ClinVar Miner

Variants from Department of Human Genetics, Hannover Medical School

Location: Germany  Primary collection method: clinical testing
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
403 446 246 4 0 1099

Gene and significance breakdown #

Total genes and gene combinations: 609
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
PKD1 10 17 2 0 29
BRCA2 17 0 2 1 20
NF1 10 4 1 0 15
PAH 8 7 0 0 15
ATM 7 0 6 0 13
BRCA1 12 0 0 0 12
DNAH5 3 1 7 0 11
JAG1 2 3 5 0 10
ANKRD11 2 7 0 0 9
GJB2 9 0 0 0 9
ATP7B 4 4 0 0 8
CFTR 4 1 3 0 8
DNAH11 1 7 0 0 8
EXT1 5 2 1 0 8
ABCA4 5 1 1 0 7
FBN1 1 5 1 0 7
SCN1A 3 3 1 0 7
TTN 0 3 4 0 7
ANK3 0 1 5 0 6
BTK 4 2 0 0 6
CLASP1, RNU4ATAC 0 6 0 0 6
MLH1 2 1 3 0 6
PKD2 3 3 0 0 6
ACADM 2 3 0 0 5
CHEK2 3 2 0 0 5
MECP2 4 1 0 0 5
MMAA 4 1 0 0 5
MSH2 4 1 0 0 5
MYH7 2 2 1 0 5
NIPBL 3 1 1 0 5
ACADVL 1 2 1 0 4
ACVRL1 1 3 0 0 4
BRIP1 0 1 3 0 4
CCDC40 4 0 0 0 4
COL4A4 3 0 1 0 4
FECH 2 2 0 0 4
GAA 2 2 0 0 4
ILDR1 2 0 2 0 4
MEFV 1 1 2 0 4
MSH6 2 0 2 0 4
MYBPC3 3 0 1 0 4
NLRP12 0 0 4 0 4
NOTCH2 0 1 2 1 4
NOTCH3 0 4 0 0 4
PALB2 4 0 0 0 4
PTEN 3 1 0 0 4
RAD51D, RAD51L3-RFFL 2 0 2 0 4
RYR1 2 0 2 0 4
SLC26A4 4 0 0 0 4
SPAST 1 3 0 0 4
TBCEL-TECTA, TECTA 0 0 4 0 4
TMPRSS3 2 1 1 0 4
TRIO 0 2 2 0 4
ALDH7A1 2 0 1 0 3
ATM, C11orf65 1 0 2 0 3
ATP8B1 0 3 0 0 3
CDH1 0 0 3 0 3
CFAP300 1 2 0 0 3
COL4A5 0 3 0 0 3
DMD 3 0 0 0 3
EXT2 2 1 0 0 3
GJB1 1 1 1 0 3
HYDIN 1 2 0 0 3
KANSL1 0 3 0 0 3
KCNH2 0 3 0 0 3
KMT2C 1 0 2 0 3
L2HGDH 2 1 0 0 3
LPIN2 0 0 3 0 3
MAGT1 0 3 0 0 3
MAT1A 0 3 0 0 3
MED13 0 1 2 0 3
MVP-DT, PRRT2 3 0 0 0 3
MYO15A 0 3 0 0 3
ODAD2 0 1 2 0 3
ODAD4 3 0 0 0 3
OTOG 1 2 0 0 3
PIGV 2 0 1 0 3
PTCH1 0 3 0 0 3
PTPN11 3 0 0 0 3
PYGM 1 0 2 0 3
RAD51C 2 1 0 0 3
RSPH4A 0 0 3 0 3
SDHA 0 3 0 0 3
SGSH 1 2 0 0 3
SYNGAP1 1 2 0 0 3
ZMYND10 1 2 0 0 3
​intergenic 2 0 0 0 2
ABCA3 0 1 1 0 2
ABCC2 0 2 0 0 2
ACAT1 2 0 0 0 2
ANO5 1 1 0 0 2
APC 1 1 0 0 2
ARID1B 0 1 1 0 2
ASL 0 2 0 0 2
BARD1 0 0 2 0 2
BTD 2 0 0 0 2
CACNA1A 0 2 0 0 2
CACNA1S 1 0 1 0 2
CAPN3 0 2 0 0 2
CCDC39 0 1 1 0 2
CCDST, FLG 1 1 0 0 2
CDAN1 1 1 0 0 2
CDKN2A 1 1 0 0 2
CEP290 0 0 2 0 2
CHD5 0 2 0 0 2
CHD7 0 2 0 0 2
CHD8 0 0 2 0 2
CIC 0 2 0 0 2
CLCN1 1 1 0 0 2
COL1A1 0 2 0 0 2
COL2A1 0 2 0 0 2
COL4A2 0 2 0 0 2
COL7A1 1 1 0 0 2
CPT2 1 1 0 0 2
CTRC 1 0 1 0 2
CYBB 1 1 0 0 2
CYP1B1 2 0 0 0 2
DEAF1 0 1 1 0 2
DEPDC5 0 1 1 0 2
DHCR7 1 1 0 0 2
DRC1, OTOF 0 2 0 0 2
ELANE 0 1 1 0 2
ELN 0 2 0 0 2
ETFDH 2 0 0 0 2
FGF8 0 0 2 0 2
FLNA 1 0 1 0 2
FLNC 1 1 0 0 2
FOXF1 1 1 0 0 2
G6PD 0 1 0 1 2
GANAB 0 2 0 0 2
GATA3 0 2 0 0 2
GATAD2B 1 1 0 0 2
GH-LCR, SCN4A 0 0 2 0 2
GLA, RPL36A-HNRNPH2 0 1 1 0 2
HBA-LCR, NPRL3 1 0 1 0 2
HBB, LOC106099062, LOC107133510 2 0 0 0 2
HFE 2 0 0 0 2
HSD17B4 1 1 0 0 2
HUWE1 0 1 1 0 2
IVD 0 2 0 0 2
KCNQ1 2 0 0 0 2
KDM5B 0 0 2 0 2
KIF11 0 2 0 0 2
LMNA 1 1 0 0 2
LMX1A 0 1 1 0 2
LOC126862264, MEFV 2 0 0 0 2
LOXHD1 2 0 0 0 2
LRBA 0 0 2 0 2
MAP2K1 1 1 0 0 2
MCCC2 1 1 0 0 2
MED13L 0 1 1 0 2
MIR6511B1, PKD1 0 1 1 0 2
MSH3 0 0 2 0 2
MVK 0 2 0 0 2
MYO7A 2 0 0 0 2
NBAS 1 1 0 0 2
NBEA 1 1 0 0 2
NFKB1 1 1 0 0 2
NR1H4 0 0 2 0 2
ODAD1 0 2 0 0 2
PAX3 0 2 0 0 2
PEX26 0 2 0 0 2
PHKA2 0 2 0 0 2
PIGN 1 1 0 0 2
PIGT 2 0 0 0 2
PIK3R1 0 0 2 0 2
PLCG2 0 0 2 0 2
PMM2 0 2 0 0 2
POLG 2 0 0 0 2
PPM1D 2 0 0 0 2
PPOX 0 2 0 0 2
PPT1 2 0 0 0 2
RAG1 1 1 0 0 2
RIT1 1 1 0 0 2
RP1 0 2 0 0 2
RSPH1 1 0 1 0 2
SATB2 2 0 0 0 2
SCN8A 0 0 2 0 2
SERPING1 0 2 0 0 2
SETD5 0 2 0 0 2
SFTPC 1 1 0 0 2
SHANK2 0 1 1 0 2
SLC38A8 0 0 2 0 2
SLC7A9 1 1 0 0 2
SOX17 0 1 1 0 2
SOX5 0 2 0 0 2
SPG7 0 1 1 0 2
SPTAN1 0 2 0 0 2
SPTBN1 0 2 0 0 2
STAT1 0 1 1 0 2
STAT3 1 1 0 0 2
STING1 2 0 0 0 2
STXBP1 0 2 0 0 2
SURF1 0 2 0 0 2
TERT 0 0 2 0 2
TMEM67 1 1 0 0 2
TMEM94 0 1 1 0 2
TNFAIP3 1 1 0 0 2
TNFRSF13B 0 0 2 0 2
TSC1 1 0 1 0 2
TSC2 0 2 0 0 2
TUBB3 0 2 0 0 2
TWNK 0 2 0 0 2
TYR 1 1 0 0 2
USP7 0 1 1 0 2
ABCB11 0 1 0 0 1
ABCB4 0 1 0 0 1
ABCC1, ABCC6, BMERB1, CEP20, MARF1, MPV17L, MYH11, NDE1, NOMO3, NPIPA5 1 0 0 0 1
ABCC8 0 1 0 0 1
ABCD1 0 1 0 0 1
ABHD11, BAZ1B, BCL7B, BUD23, CLDN3, CLDN4, CLIP2, DNAJC30, EIF4H, ELN, FKBP6, FZD9, GTF2I, GTF2IRD1, LAT2, LIMK1, METTL27, MIR590, MLXIPL, NSUN5, POM121, RFC2, STX1A, TBL2, TMEM270, TRIM50, TRIM74, VPS37D 1 0 0 0 1
ABHD3, ACAA2, ADNP2, ALPK2, ANKRD29, AQP4, ARK2C, ARK2N, ASXL3, ATP5F1A, ATP8B1, ATP9B, B4GALT6, BCL2, BOD1L2, C18orf32, C18orf54, C18orf63, CABLES1, CABYR, CBLN2, CCBE1, CCDC102B, CCDC178, CCDC68, CD226, CDH19, CDH2, CDH20, CDH7, CELF4, CFAP53, CHST9, CNDP1, CNDP2, COSMOC, CPLX4, CTAGE1, CTDP1, CTDP1-DT, CTIF, CXXC1, CYB5A, DCC, DIPK1C, DOK6, DSC1, DSC2, DSC3, DSCAS, DSEL, DSG1, DSG2, DSG3, DSG4, DTNA, DYM, DYNAP, ELAC1, ELOA2, ELP2, EPG5, ESCO1, FBXO15, FECH, FHOD3, GALNT1, GALR1, GAREM1, GATA6, GREB1L, GREB1L-DT, GRP, GTSCR1, HAUS1, HDHD2, HMSD, HRH4, HSBP1L1, IER3IP1, IMPACT, INO80C, KATNAL2, KC6, KCNG2, KCTD1, KDSR, KDSR-DT, KIAA1328, KLHL14, LAMA3, LINC-ROR, LINC00305, LINC00683, LINC00907, LINC00908, LINC01029, LINC01415, LINC01416, LINC01477, LINC01478, LINC01538, LINC01539, LINC01541, LINC01543, LINC01544, LINC01601, LINC01630, LINC01879, LINC01893, LINC01894, LINC01896, LINC01897, LINC01898, LINC01899, LINC01900, LINC01901, LINC01902, LINC01903, LINC01905, LINC01908, LINC01909, LINC01910, LINC01912, LINC01915, LINC01916, LINC01917, LINC01919, LINC01922, LINC01924, LINC01926, LINC01927, LINC01929, LINC02565, LINC02582, LINC02837, LINC02864, LINC02879, LINC02958, LINC03069, LINC03110, LINC03111, LIPG, LIVAR, LMAN1, LOC105372028, LOC105372035, LOC105372038, LOC105372041, LOC105372066, LOC105372068, LOC105372069, LOC105372071, LOC105372143, LOC105372155, LOC105372173, LOC105372179, LOC105372187, LOC105372228, LOC107457587, LOC107457597, LOC107992389, LOC108281158, LOC109609705, LOC110120864, LOC110120865, LOC110120866, LOC110120867, LOC110120868, LOC110120885, LOC110120900, LOC110120915, LOC110120920, LOC110120931, LOC110120935, LOC110120940, LOC110120953, LOC110121312, LOC110121313, LOC110121314, LOC110121315, LOC110121318, LOC110121328, LOC110121329, LOC110121330, LOC110121352, LOC110121353, LOC110121357, LOC110121361, LOC110121367, LOC110121371, LOC110121390, LOC110121394, LOC110121398, LOC110121416, LOC110121417, LOC110121420, LOC110121421, LOC110121423, LOC110121438, LOC110121493, LOC111365166, LOC111365201, LOC111501775, LOC111718495, LOC112538444, LOC112540014, LOC112540015, LOC112540016, LOC112540017, LOC112543421, LOC112543422, LOC112543424, LOC112543425, LOC112543426, LOC112543427, LOC112543428, LOC112543429, LOC112543430, LOC112543432, LOC112543433, LOC113939964, LOC113939965, LOC114803473, LOC114827854, LOC114827855, LOC116276490, LOC116276491, LOC116276492, LOC121627824, LOC121627825, LOC121627826, LOC121627827, LOC121627828, LOC121627829, LOC121627830, LOC121627831, LOC121627832, LOC121627833, LOC121627834, LOC121627835, LOC121627836, LOC121627838, LOC121627839, LOC121627840, LOC121627841, LOC121852959, LOC121852960, LOC121852961, LOC121852962, LOC121852963, LOC121852964, LOC121852965, LOC121852966, LOC121852967, LOC121852968, LOC121852969, LOC121852970, LOC124904333, LOC125368554, LOC125368555, LOC125368556, LOC125368557, LOC125368558, LOC125368559, LOC125368560, LOC125371406, LOC125371407, LOC125371408, LOC125371409, LOC125371410, LOC125371411, LOC125371412, LOC125371413, LOC125371414, LOC125371416, LOC125371417, LOC125371418, LOC125371419, LOC125371420, LOC125371421, LOC125371424, LOC125371425, LOC125371426, LOC125371427, LOC125371428, LOC125371429, LOC125371430, LOC125371431, LOC125371432, LOC125371433, LOC125371434, LOC125371435, LOC125371436, LOC125371437, LOC125371438, LOC125371439, LOC125371440, LOC125371441, LOC125371442, LOC125371443, LOC126862702, LOC126862703, LOC126862704, LOC126862705, LOC126862706, LOC126862707, LOC126862708, LOC126862709, LOC126862710, LOC126862711, LOC126862712, LOC126862713, LOC126862714, LOC126862715, LOC126862716, LOC126862717, LOC126862718, LOC126862719, LOC126862720, LOC126862721, LOC126862722, LOC126862723, LOC126862724, LOC126862725, LOC126862726, LOC126862727, LOC126862728, LOC126862729, LOC126862730, LOC126862731, LOC126862732, LOC126862733, LOC126862734, LOC126862735, LOC126862736, LOC126862737, LOC126862738, LOC126862739, LOC126862740, LOC126862741, LOC126862742, LOC126862743, LOC126862744, LOC126862745, LOC126862746, LOC126862747, LOC126862748, LOC126862749, LOC126862750, LOC126862751, LOC126862752, LOC126862753, LOC126862754, LOC126862755, LOC126862756, LOC126862757, LOC126862758, LOC126862759, LOC126862760, LOC126862761, LOC126862762, LOC126862763, LOC126862764, LOC126862765, LOC126862766, LOC126862767, LOC126862768, LOC126862769, LOC126862770, LOC126862771, LOC126862772, LOC126862773, LOC126862774, LOC126862775, LOC126862776, LOC126862777, LOC126862778, LOC126862779, LOC126862780, LOC126862781, LOC126862782, LOC126862783, LOC126862784, LOC126862785, LOC126862786, LOC126862787, LOC126862788, LOC126862789, LOC126862790, LOC126862791, LOC126862792, LOC126862793, LOC126862794, LOC126862795, LOC126862796, LOC126862797, LOC126862798, LOC126862799, LOC126862800, LOC126862801, LOC126862802, LOC126862803, LOC126862804, LOC126862805, LOC126862806, LOC126862807, LOC126862808, LOC126862809, LOC126862810, LOC126862811, LOC126862812, LOC126862813, LOC126862814, LOC126862815, LOC126862816, LOC126862817, LOC126862818, LOC126862819, LOC126862820, LOC126862821, LOC126862822, LOC126862823, LOC126862824, LOC126862825, LOC126862826, LOC126862827, LOC126862828, LOC126862829, LOC126862830, LOC126862831, LOC126862832, LOC126862833, LOC126862834, LOC129390959, LOC129390960, LOC129390961, LOC129390962, LOC129390963, LOC129390964, LOC129390965, LOC129390966, LOC129390967, LOC129390968, LOC129390969, LOC129390970, LOC129390971, LOC129390972, LOC129390973, LOC129390974, LOC129390975, LOC129390976, LOC129390977, LOC129390978, LOC129390979, LOC129390980, LOC129390981, LOC129390982, LOC129390983, LOC129390984, LOC129390985, LOC129390986, LOC129390987, LOC129390988, LOC129390989, LOC129390990, LOC129390991, LOC129390992, LOC129390993, LOC129390994, LOC129390995, LOC129390996, LOC129390997, LOC129390998, LOC129390999, LOC129391000, LOC129391001, LOC129391002, LOC129391003, LOC129391004, LOC129391005, LOC129391006, LOC129391007, LOC129391008, LOC129456126, LOC130062243, LOC130062244, LOC130062245, LOC130062246, LOC130062247, LOC130062248, LOC130062249, LOC130062250, LOC130062251, LOC130062252, LOC130062253, LOC130062254, LOC130062255, LOC130062256, LOC130062257, LOC130062258, LOC130062259, LOC130062260, LOC130062261, LOC130062262, LOC130062263, LOC130062264, LOC130062265, LOC130062266, LOC130062267, LOC130062268, LOC130062269, LOC130062270, LOC130062271, LOC130062272, LOC130062273, LOC130062274, LOC130062275, LOC130062276, LOC130062277, LOC130062278, LOC130062279, LOC130062280, LOC130062281, LOC130062282, LOC130062283, LOC130062284, LOC130062285, LOC130062286, LOC130062287, LOC130062288, LOC130062289, LOC130062290, LOC130062291, LOC130062292, LOC130062293, LOC130062294, LOC130062295, LOC130062296, LOC130062297, LOC130062298, LOC130062299, LOC130062300, LOC130062301, LOC130062302, LOC130062303, LOC130062304, LOC130062305, LOC130062306, LOC130062307, LOC130062308, LOC130062309, LOC130062310, LOC130062311, LOC130062312, LOC130062313, LOC130062314, LOC130062315, LOC130062316, LOC130062317, LOC130062318, LOC130062319, LOC130062320, LOC130062321, LOC130062322, LOC130062323, LOC130062324, LOC130062325, LOC130062326, LOC130062327, LOC130062328, LOC130062329, LOC130062330, LOC130062331, LOC130062332, LOC130062333, LOC130062334, LOC130062335, LOC130062336, LOC130062337, LOC130062338, LOC130062339, LOC130062340, LOC130062341, LOC130062342, LOC130062343, LOC130062344, LOC130062345, LOC130062346, LOC130062347, LOC130062348, LOC130062349, LOC130062350, LOC130062351, LOC130062352, LOC130062353, LOC130062354, LOC130062355, LOC130062356, LOC130062357, LOC130062358, LOC130062359, LOC130062360, LOC130062361, LOC130062362, LOC130062363, LOC130062364, LOC130062365, LOC130062366, LOC130062367, LOC130062368, LOC130062369, LOC130062370, LOC130062371, LOC130062372, LOC130062373, LOC130062374, LOC130062375, LOC130062376, LOC130062377, LOC130062378, LOC130062379, LOC130062380, LOC130062381, LOC130062382, LOC130062383, LOC130062384, LOC130062385, LOC130062386, LOC130062387, LOC130062388, LOC130062389, LOC130062390, LOC130062391, LOC130062392, LOC130062393, LOC130062394, LOC130062395, LOC130062396, LOC130062397, LOC130062398, LOC130062399, LOC130062400, LOC130062401, LOC130062402, LOC130062403, LOC130062404, LOC130062405, LOC130062406, LOC130062407, LOC130062408, LOC130062409, LOC130062410, LOC130062411, LOC130062412, LOC130062413, LOC130062414, LOC130062415, LOC130062416, LOC130062417, LOC130062418, LOC130062419, LOC130062420, LOC130062421, LOC130062422, LOC130062423, LOC130062424, LOC130062425, LOC130062426, LOC130062427, LOC130062428, LOC130062429, LOC130062430, LOC130062431, LOC130062432, LOC130062433, LOC130062434, LOC130062435, LOC130062436, LOC130062437, LOC130062438, LOC130062439, LOC130062440, LOC130062441, LOC130062442, LOC130062443, LOC130062444, LOC130062445, LOC130062446, LOC130062447, LOC130062448, LOC130062449, LOC130062450, LOC130062451, LOC130062452, LOC130062453, LOC130062454, LOC130062455, LOC130062456, LOC130062457, LOC130062458, LOC130062459, LOC130062460, LOC130062461, LOC130062462, LOC130062463, LOC130062464, LOC130062465, LOC130062466, LOC130062467, LOC130062468, LOC130062469, LOC130062470, LOC130062471, LOC130062472, LOC130062473, LOC130062474, LOC130062475, LOC130062476, LOC130062477, LOC130062478, LOC130062479, LOC130062480, LOC130062481, LOC130062482, LOC130062483, LOC130062484, LOC130062485, LOC130062486, LOC130062487, LOC130062488, LOC130062489, LOC130062490, LOC130062491, LOC130062492, LOC130062493, LOC130062494, LOC130062495, LOC130062496, LOC130062497, LOC130062498, LOC130062499, LOC130062500, LOC130062501, LOC130062502, LOC130062503, LOC130062504, LOC130062505, LOC130062506, LOC130062507, LOC130062508, LOC130062509, LOC130062510, LOC130062511, LOC130062512, LOC130062513, LOC130062514, LOC130062515, LOC130062516, LOC130062517, LOC130062518, LOC130062519, LOC130062520, LOC130062521, LOC130062522, LOC130062523, LOC130062524, LOC130062525, LOC130062526, LOC130062527, LOC130062528, LOC130062529, LOC130062530, LOC130062531, LOC130062532, LOC130062533, LOC130062534, LOC130062535, LOC130062536, LOC130062537, LOC130062538, LOC130062539, LOC130062540, LOC130062541, LOC130062542, LOC130062543, LOC130062544, LOC130062545, LOC130062546, LOC130062547, LOC130062548, LOC130062549, LOC130062550, LOC130062551, LOC130062552, LOC130062553, LOC130062554, LOC130062555, LOC130062556, LOC130062557, LOC130062558, LOC130062559, LOC130062560, LOC130062561, LOC130062562, LOC130062563, LOC130062564, LOC130062565, LOC130062566, LOC130062567, LOC130062568, LOC130062569, LOC130062570, LOC130062571, LOC130062572, LOC130062573, LOC130062574, LOC130062575, LOC130062576, LOC130062577, LOC130062578, LOC130062579, LOC130062580, LOC130062581, LOC130062582, LOC130062583, LOC130062584, LOC130062585, LOC130062586, LOC130062587, LOC130062588, LOC130062589, LOC130062590, LOC130062591, LOC130062592, LOC130062593, LOC130062594, LOC130062595, LOC130062596, LOC130062597, LOC130062598, LOC130062599, LOC130062600, LOC130062601, LOC130062602, LOC130062603, LOC130062604, LOC130062605, LOC130062606, LOC130062607, LOC130062608, LOC130062609, LOC130062610, LOC130062611, LOC130062612, LOC130062613, LOC130062614, LOC130062615, LOC130062616, LOC130062617, LOC130062618, LOC130062619, LOC130062620, LOC130062621, LOC130062622, LOC130062623, LOC130062624, LOC130062625, LOC130062626, LOC130062627, LOC130062628, LOC130062629, LOC130062630, LOC130062631, LOC130062632, LOC130062633, LOC130062634, LOC130062635, LOC130062636, LOC130062637, LOC130062638, LOC130062639, LOC130062640, LOC130062641, LOC130062642, LOC130062643, LOC130062644, LOC130062645, LOC130062646, LOC130062647, LOC130062648, LOC130062649, LOC130062650, LOC130062651, LOC130062652, LOC130062653, LOC130062654, LOC130062655, LOC130062656, LOC130062657, LOC130062658, LOC130062659, LOC130062660, LOC130062661, LOC130062662, LOC130062663, LOC130062664, LOC130062665, LOC130062666, LOC130062667, LOC130062668, LOC130062669, LOC130062670, LOC130062671, LOC130062672, LOC130062673, LOC130062674, LOC130062675, LOC130062676, LOC130062677, LOC130062678, LOC130062679, LOC130062680, LOC130062681, LOC130062682, LOC130062683, LOC130062684, LOC130062685, LOC130062686, LOC130062687, LOC130062688, LOC130062689, LOC130062690, LOC130062691, LOC130062692, LOC130062693, LOC130062694, LOC130062695, LOC130062696, LOC130062697, LOC130062698, LOC130062699, LOC130062700, LOC130062701, LOC130062702, LOC130062703, LOC130062704, LOC130062705, LOC130062706, LOC130062707, LOC130062708, LOC130062709, LOC130062710, LOC130062711, LOC130062712, LOC130062713, LOC130062714, LOC130062715, LOC130062716, LOC130062717, LOC130062718, LOC130062719, LOC130062720, LOC130062721, LOC130062722, LOC130062723, LOC130062724, LOC130062725, LOC130062726, LOC130062727, LOC130062728, LOC130062729, LOC130062730, LOC130062731, LOC130062732, LOC130062733, LOC130062734, LOC130062735, LOC130062736, LOC130062737, LOC130062738, LOC130062739, LOC130062740, LOC130062741, LOC130062742, LOC130062743, LOC130062744, LOC130062745, LOC130062746, LOC130062747, LOC130062748, LOC130062749, LOC130062750, LOC130062751, LOC130062752, LOC130062753, LOC130062754, LOC130062755, LOC130062756, LOC130062757, LOC130062758, LOC130062759, LOC130062760, LOC130062761, LOC130062762, LOC130062763, LOC130062764, LOC130062765, LOC130062766, LOC130062767, LOC130062768, LOC130062769, LOC130062770, LOC130062771, LOC130062772, LOC130062773, LOC130062774, LOC130062775, LOC130062776, LOC130062777, LOC130062778, LOC130062779, LOC130062780, LOC130062781, LOC130062782, LOC130062783, LOC130062784, LOC130062785, LOC130062786, LOC130062787, LOC130062788, LOC130062789, LOC130062790, LOC130062791, LOC130062792, LOC130062793, LOC130062794, LOC130062795, LOC130062796, LOC130062797, LOC130062798, LOC130062799, LOC130062800, LOC130062801, LOC130062802, LOC130062803, LOC130062804, LOC130062805, LOC130062806, LOC132090488, LOC132090490, LOC132090491, LOC132090492, LOC132090493, LOC132090494, LOC132090495, LOC132090496, LOC132090497, LOC132090498, LOC132090499, LOC132090500, LOC132090501, LOC132090502, LOC132090503, LOC132090504, LOC132090505, LOC132090506, LOC132090507, LOC132090508, LOC132090509, LOC132090510, LOC132090511, LOC132090512, LOC132090513, LOC132090514, LOC132090515, LOC132090516, LOC132090517, LOC132090518, LOC132090519, LOC132090520, LOC132090521, LOC132090522, LOC132090523, LOC132090524, LOC132090525, LOC132090526, LOC132090527, LOC132090528, LOC132090529, LOC132090530, LOC132090899, LOC132090900, LOC132090901, LOC132211113, LOC132211114, LOC284240, LOC339298, LOXHD1, MALT1, MAPK4, MAPRE2, MBD1, MBD2, MBP, MC4R, ME2, MEP1B, MEX3C, MIB1, MIR1-2, MIR122, MIR122HG, MIR133A1, MIR133A1HG, MIR1539, MIR187, MIR302F, MIR320C1, MIR320C2, MIR3591, MIR3929, MIR3975, MIR4318, MIR4319, MIR4320, MIR4527, MIR4527HG, MIR4528, MIR4529, MIR4741, MIR4743, MIR4744, MIR5011, MIR548AV, MIR5583-1, MIR5583-2, MIR8057, MIR924, MIR924HG, MOCOS, MRO, MYO5B, NARS1, NEDD4L, NETO1, NETO1-DT, NFATC1, NOL4, NPC1, ONECUT2, OSBPL1A, PARD6G, PCAT18, PHLPP1, PIAS2, PIGN, PIK3C3, PMAIP1, POLI, PSMA8, PSTPIP2, PTGR3, RAB27B, RAX, RBBP8, RBFA, RBFADN, RELCH, RIOK3, RIT2, RMC1, RMP24, RNF125, RNF138, RNF152, ROCK1, RPL17, RPL17-C18orf32, RPRD1A, RTTN, SALL3, SCARNA17, SEC11C, SERPINB10, SERPINB11, SERPINB12, SERPINB13, SERPINB2, SERPINB3, SERPINB4, SERPINB5, SERPINB7, SERPINB8, SETBP1, SETBP1-DT, SIGLEC15, SKA1, SKOR2, SLC14A1, SLC14A2, SLC25A52, SLC35D4, SLC39A6, SLC66A2, SMAD2, SMAD4, SMAD7, SMIM21, SNHG22, SNORA108, SNORA111, SNORA37, SNORD58A, SNORD58B, SNORD58C, SNRPD1, SOCS6, SS18, ST8SIA3, ST8SIA5, ST8SIA5-DT, STARD6, SYT4, TAF4B, TCF4, TIMM21, TMX3, TNFRSF11A, TPGS2, TRAPPC8, TRK-CTT6-1, TSHZ1, TTC39C, TTR, TXNL1, TXNL4A, VPS4B, WDR7, WDR7-OT1, ZBTB7C, ZCCHC2, ZNF236, ZNF236-DT, ZNF24, ZNF24TR, ZNF396, ZNF397, ZNF407, ZNF516, ZNF516-DT, ZNF521, ZNF532, ZSCAN30 1 0 0 0 1
ACAD8, ACRV1, ADAMTS15, ADAMTS8, APLP2, ARHGAP32, B3GAT1, B3GAT1-DT, BARX2, BLID, BSX, CCDC15, CCDC15-DT, CDON, CHEK1, CLMP, CRTAM, DCPS, DDX25, EI24, ESAM, ETS1, FEZ1, FLI1, FOXRED1, GLB1L2, GLB1L3, GRAMD1B, GSEC, HEPACAM, HEPN1, HSPA8, HYLS1, IGSF9B, JAM3, JHY, KCNJ1, KCNJ5, KIRREL3, LINC01395, LINC02098, LINC02551, LINC02684, LINC02697, LINC02706, LINC02712, LINC02714, LINC02717, LINC02725, LINC02727, LINC02730, LINC02731, LINC02743, LINC02873, LOC100507548, LOC101929473, LOC101929538, LOC105369558, LOC108165612, LOC108165613, LOC108281156, LOC108353823, LOC110120853, LOC110120944, LOC110121418, LOC111365219, LOC111464985, LOC112042784, LOC112042785, LOC112042786, LOC112061819, LOC112061820, LOC112061821, LOC112061822, LOC112061823, LOC112067710, LOC112067711, LOC116225304, LOC116225305, LOC116225306, LOC116225307, LOC118567325, LOC121392949, LOC121392950, LOC121392951, LOC121392952, LOC121392953, LOC121392954, LOC121832822, LOC121832823, LOC121832824, LOC124625855, LOC124625856, LOC124625857, LOC124625858, LOC124625859, LOC124625860, LOC124625861, LOC124625862, LOC124625863, LOC124625864, LOC124625865, LOC124625866, LOC124625867, LOC124625868, LOC124625870, LOC124625871, LOC124625872, LOC124625873, LOC124625874, LOC124625875, LOC126861368, LOC126861369, LOC126861370, LOC126861371, LOC126861372, LOC126861373, LOC126861374, LOC126861375, LOC126861376, LOC126861377, LOC126861378, LOC126861379, LOC126861380, LOC126861381, LOC126861382, LOC126861383, LOC126861384, LOC126861385, LOC126861386, LOC126861387, LOC126861388, LOC126861389, LOC126861390, LOC126861391, LOC126861392, LOC126861393, LOC126861394, LOC126861395, LOC126861396, LOC126861397, LOC126861398, LOC126861399, LOC126861400, LOC126861401, LOC126861402, LOC126861403, LOC126861404, LOC126861405, LOC126861406, LOC126861407, LOC126861408, LOC126861409, LOC127823033, LOC128462392, LOC128462393, LOC128462394, LOC128462411, LOC129390371, LOC129390372, LOC129390373, LOC129390374, LOC129390375, LOC129390376, LOC129390377, LOC129390378, LOC129390379, LOC129390380, LOC129390381, LOC129390382, LOC129390383, LOC129390384, LOC130006952, LOC130006953, LOC130006954, LOC130006955, LOC130006956, LOC130006957, LOC130006958, LOC130006959, LOC130006960, LOC130006961, LOC130006962, LOC130006963, LOC130006964, LOC130006965, LOC130006966, LOC130006967, LOC130006968, LOC130006969, LOC130006970, LOC130006971, LOC130006972, LOC130006973, LOC130006974, LOC130006975, LOC130006976, LOC130006977, LOC130006978, LOC130006979, LOC130006980, LOC130006981, LOC130006982, LOC130006983, LOC130006984, LOC130006985, LOC130006986, LOC130006987, LOC130006988, LOC130006989, LOC130006990, LOC130006991, LOC130006992, LOC130006993, LOC130006994, LOC130006995, LOC130006996, LOC130006997, LOC130006998, LOC130006999, LOC130007000, LOC130007001, LOC130007002, LOC130007003, LOC130007004, LOC130007005, LOC130007006, LOC130007007, LOC130007008, LOC130007009, LOC130007010, LOC130007011, LOC130007012, LOC130007013, LOC130007014, LOC130007015, LOC130007016, LOC130007017, LOC130007018, LOC130007019, LOC130007020, LOC130007021, LOC130007022, LOC130007023, LOC130007024, LOC130007025, LOC130007026, LOC130007027, LOC130007028, LOC130007029, LOC130007030, LOC130007031, LOC130007032, LOC130007033, LOC130007034, LOC130007035, LOC130007036, LOC130007037, LOC130007038, LOC130007039, LOC130007040, LOC130007041, LOC130007042, LOC130007043, LOC130007044, LOC130007045, LOC130007046, LOC130007047, LOC130007048, LOC130007049, LOC130007050, LOC130007051, LOC130007052, LOC130007053, LOC130007054, LOC130007055, LOC130007056, LOC130007057, LOC130007058, LOC130007059, LOC130007060, LOC130007061, LOC130007062, LOC130007063, LOC130007064, LOC130007065, LOC130007066, LOC130007067, LOC130007068, LOC130007069, LOC130007070, LOC130007071, LOC130007072, LOC130007073, LOC130007074, LOC130007075, LOC130007076, LOC130007077, LOC130007078, LOC130007079, LOC130007080, LOC130007081, LOC130007082, LOC130007083, LOC130007084, LOC130007085, LOC130007086, LOC130007087, LOC130007088, LOC130007089, LOC130007090, LOC130007091, LOC130007092, LOC130007093, LOC130007094, LOC130007095, LOC130007096, LOC130007097, LOC130007098, LOC130007099, LOC130007100, LOC130007101, LOC130007102, LOC130007103, LOC130007104, LOC130007105, LOC130007106, LOC130007107, LOC130007108, LOC130007109, LOC130007110, LOC130007111, LOC130007112, LOC130007113, LOC130007114, LOC130007115, LOC130007116, LOC130007117, LOC130007118, LOC130007119, LOC130007120, LOC130007121, LOC130007122, LOC130007123, LOC130007124, LOC130007125, LOC130007126, LOC130007127, LOC130007128, LOC130007129, LOC130007130, LOC130007131, LOC132089907, LOC132089908, LOC399975, LOC403312, MIR100, MIR100HG, MIR10526, MIR125B1, MIR3167, MIR4493, MIR4697, MIR6090, MIR8052, MIRLET7A2, MSANTD2, NCAPD3, NFRKB, NRGN, NTM, NTM-IT, OPCML, OPCML-IT1, OR10D3, OR10G4, OR10G6, OR10G7, OR10G8, OR10G9, OR10S1, OR4D5, OR6M1, OR6T1, OR6X1, OR8A1, OR8B12, OR8B2, OR8B3, OR8B4, OR8B8, OR8D1, OR8D2, OR8D4, OR8G1, OR8G3, OR8G5, PANX3, PATE1, PATE2, PATE3, PATE4, PKNOX2, PKNOX2-DT, PRDM10, PRDM10-DT, PUS3, ROBO3, ROBO4, RPUSD4, SCN3B, SENCR, SIAE, SIRAL1, SLC37A2, SNORD14C, SNORD14D, SNORD14E, SNORD153, SNX19, SORL1, SPA17, SPATA19, SRPRA, ST14, ST3GAL4, STT3A, TBRG1, THYN1, TIRAP, TMEM218, TMEM225, TMEM45B, TP53AIP1, TRK-TTT2-1, UBASH3B, VPS26B, VSIG10L2, VSIG2, VWA5A, ZBTB44, ZBTB44-DT, ZNF202 1 0 0 0 1
ACAD8, ADAMTS15, ADAMTS8, APLP2, ARHGAP32, B3GAT1, B3GAT1-DT, BARX2, ETS1, FLI1, GLB1L2, GLB1L3, IGSF9B, JAM3, KCNJ1, KCNJ5, LINC01395, LINC02098, LINC02551, LINC02684, LINC02697, LINC02706, LINC02714, LINC02717, LINC02725, LINC02730, LINC02731, LINC02743, LINC02873, LOC100507548, LOC101929538, LOC108165612, LOC108165613, LOC108281156, LOC108353823, LOC110120853, LOC111464985, LOC112061822, LOC112061823, LOC112067710, LOC112067711, LOC116225307, LOC121392949, LOC121392950, LOC121392951, LOC121392952, LOC121392953, LOC121392954, LOC121832822, LOC121832823, LOC121832824, LOC124625868, LOC124625870, LOC124625871, LOC124625872, LOC124625873, LOC124625874, LOC124625875, LOC126861381, LOC126861382, LOC126861383, LOC126861384, LOC126861385, LOC126861386, LOC126861387, LOC126861388, LOC126861389, LOC126861390, LOC126861391, LOC126861392, LOC126861393, LOC126861394, LOC126861395, LOC126861396, LOC126861397, LOC126861398, LOC126861399, LOC126861400, LOC126861401, LOC126861402, LOC126861403, LOC126861404, LOC126861405, LOC126861406, LOC126861407, LOC126861408, LOC126861409, LOC127823033, LOC128462392, LOC128462393, LOC128462394, LOC128462411, LOC129390376, LOC129390377, LOC129390378, LOC129390379, LOC129390380, LOC129390381, LOC129390382, LOC129390383, LOC129390384, LOC130007035, LOC130007036, LOC130007037, LOC130007038, LOC130007039, LOC130007040, LOC130007041, LOC130007042, LOC130007043, LOC130007044, LOC130007045, LOC130007046, LOC130007047, LOC130007048, LOC130007049, LOC130007050, LOC130007051, LOC130007052, LOC130007053, LOC130007054, LOC130007055, LOC130007056, LOC130007057, LOC130007058, LOC130007059, LOC130007060, LOC130007061, LOC130007062, LOC130007063, LOC130007064, LOC130007065, LOC130007066, LOC130007067, LOC130007068, LOC130007069, LOC130007070, LOC130007071, LOC130007072, LOC130007073, LOC130007074, LOC130007075, LOC130007076, LOC130007077, LOC130007078, LOC130007079, LOC130007080, LOC130007081, LOC130007082, LOC130007083, LOC130007084, LOC130007085, LOC130007086, LOC130007087, LOC130007088, LOC130007089, LOC130007090, LOC130007091, LOC130007092, LOC130007093, LOC130007094, LOC130007095, LOC130007096, LOC130007097, LOC130007098, LOC130007099, LOC130007100, LOC130007101, LOC130007102, LOC130007103, LOC130007104, LOC130007105, LOC130007106, LOC130007107, LOC130007108, LOC130007109, LOC130007110, LOC130007111, LOC130007112, LOC130007113, LOC130007114, LOC130007115, LOC130007116, LOC130007117, LOC130007118, LOC130007119, LOC130007120, LOC130007121, LOC130007122, LOC130007123, LOC130007124, LOC130007125, LOC130007126, LOC130007127, LOC130007128, LOC130007129, LOC130007130, LOC130007131, LOC132089908, LOC399975, MIR4697, MIR6090, MIR8052, NCAPD3, NFRKB, NTM, NTM-IT, OPCML, OPCML-IT1, PRDM10, PRDM10-DT, SENCR, SNORD153, SNX19, SPATA19, ST14, THYN1, TMEM45B, TP53AIP1, VPS26B, ZBTB44, ZBTB44-DT 1 0 0 0 1
ACE 1 0 0 0 1
ACHE, ACTL6B, AGFG2, AP1S1, AP4M1, AZGP1, CLDN15, CNPY4, COL26A1, COPS6, CUX1, CYP3A4, CYP3A43, CYP3A5, CYP3A7, CYP3A7-CYP3A51P, EMSLR, EPHB4, EPO, FBXO24, FIS1, GAL3ST4, GIGYF1, GJC3, GNB2, GPC2, IFT22, LAMTOR4, LINC01007, LNCPRESS1, LOC100630923, LOC105375423, LOC105375429, LOC110366354, LOC110366355, LOC110599591, LOC110599592, LOC111365160, LOC111776221, LOC113687174, LOC113687175, LOC113687176, LOC113687177, LOC116183093, LOC116183094, LOC116183095, LOC120807605, LOC121175352, LOC121175353, LOC121175354, LOC121175355, LOC121175356, LOC123956187, LOC123956188, LOC123956189, LOC123956190, LOC123956191, LOC123956192, LOC123956193, LOC123956194, LOC123956195, LOC123956196, LOC126860123, LOC126860124, LOC126860125, LOC126860126, LOC126860127, LOC129389831, LOC129998878, LOC129998879, LOC129998880, LOC129998881, LOC129998882, LOC129998883, LOC129998884, LOC129998885, LOC129998886, LOC129998887, LOC129998888, LOC129998889, LOC129998890, LOC129998891, LOC129998892, LOC129998893, LOC129998894, LOC129998895, LOC129998896, LOC129998897, LOC129998898, LOC129998899, LOC129998900, LOC129998901, LOC129998902, LOC129998903, LOC129998904, LOC129998905, LOC129998906, LOC129998907, LOC129998908, LOC129998909, LOC129998910, LOC129998911, LOC129998912, LOC129998913, LOC129998914, LOC129998915, LOC129998916, LOC129998917, LOC129998918, LOC129998919, LOC129998920, LOC129998921, LOC129998922, LOC129998923, LOC129998924, LOC129998925, LOC129998926, LOC129998927, LOC129998928, LOC129998929, LOC129998930, LOC129998931, LOC129998932, LOC129998933, LOC129998934, LOC129998935, LOC129998936, LOC129998937, LOC129998938, LOC129998939, LOC129998940, LOC129998941, LOC129998942, LOC129998943, LOC129998944, LOC129998945, LOC129998946, LOC129998947, LOC129998948, LOC129998949, LOC129998950, LOC129998951, LOC129998952, LOC129998953, LOC129998954, LOC129998955, LOC129998956, LOC129998957, LOC129998958, LOC129998959, LOC129998960, LOC129998961, LOC129998962, LOC129998963, LOC129998964, LOC129998965, LOC129998966, LOC129998967, LOC129998968, LOC129998969, LOC129998970, LOC129998971, LOC129998972, LOC129998973, LOC129998974, LOC129998975, LOC129998976, LOC129998977, LOC129998978, LOC129998979, LOC129998980, LOC129998981, LOC129998982, LOC129998983, LOC129998984, LOC129998985, LOC129998986, LOC129998987, LOC129998988, LOC129998989, LOC129998990, LOC129998991, LOC129998992, LOC129998993, LOC129998994, LOC129998995, LOC129998996, LOC129998997, LOC129998998, LOC129998999, LOC129999000, LOC129999001, LOC129999002, LOC129999003, LOC129999004, LOC129999005, LOC129999006, LOC129999007, LOC129999008, LOC129999009, LOC129999010, LOC129999011, LOC129999012, LOC129999013, LOC129999014, LOC129999015, LOC129999016, LOC129999017, LOC129999018, LOC129999019, LOC129999020, LOC129999021, LOC129999022, LOC129999023, LOC129999024, LOC129999025, LOC129999026, LOC129999027, LOC129999028, LOC129999029, LOC129999030, LOC129999031, LOC129999032, LOC129999033, LOC129999034, LOC129999035, LOC129999036, LOC129999037, LOC129999038, LOC129999039, LOC129999040, LRCH4, MBLAC1, MCM7, MEPCE, MIR106B, MIR25, MIR4285, MIR4653, MIR4658, MIR6840, MIR6875, MIR93, MOGAT3, MOSPD3, MUC12, MUC17, MUC3A, MYL10, NAT16, NYAP1, OR2AE1, PCOLCE, PILRA, PILRB, PLOD3, POP7, PPP1R35, PVRIG, SAP25, SERPINE1, SH2B2, SLC12A9, SPACDR, SPDYE3, SPDYE6, SRRT, STAG3, STAG3L5P-PVRIG2P-PILRB, TAF6, TFR2, TMEM225B, TRAPPC14, TRIM4, TRIM56, TRIP6, TSC22D4, TSC22D4-C7ORF61, UFSP1, VGF, ZAN, ZASP, ZBED8L, ZCWPW1, ZKSCAN1, ZKSCAN5, ZNF3, ZNF394, ZNF655, ZNHIT1, ZSCAN21, ZSCAN25 1 0 0 0 1
ACOD1, BORA, CLN5, COMMD6, DACH1, DIS3, EDNRB, FBXL3, KCTD12, KLF12, KLF5, LINC00402, LMO7, LMO7DN, LOC100288208, MIR4500HG, MYCBP2, MZT1, NDFIP2, OBI1, PIBF1, POU4F1, RBM26, SCEL, SLAIN1, SLITRK1, SLITRK5, SLITRK6, SPRY2, TBC1D4, UCHL3 1 0 0 0 1
ACTA1 0 0 1 0 1
ACTG1 0 1 0 0 1
ADA 0 1 0 0 1
ADAP2, ATAD5, COPRS, CRLF3, EVI2A, EVI2B, LOC106113037, LOC108281169, LOC108281170, LOC108281180, LOC108281181, LOC108281182, LOC108771181, LOC108771182, LOC108771184, LOC108783647, LOC108783652, LOC108783653, LOC111811965, LOC112529907, LOC121587585, LOC121587586, LOC125177454, LOC125177455, LOC126862531, LOC129390850, LOC129390851, LOC130060642, LOC130060643, LOC130060644, LOC130060645, LOC130060646, LOC130060647, LOC130060648, LOC130060649, LOC130060650, LOC130060651, LOC130060652, LOC130060653, LOC130060654, LOC130060655, LOC130060656, LOC130060657, LOC130060658, LOC130060659, LOC130060660, LOC130060661, LOC130060662, LOC130060663, LOC130060664, LOC130060665, LOC130060666, LOC130060667, LOC130060668, LOC130060669, LOC130060670, LOC130060671, LOC130060672, LRRC37B, MIR193A, MIR365B, MIR365BHG, MIR4724, MIR4725, MIR4733, MIR4733HG, NF1, OMG, RAB11FIP4, RNF135, SUZ12, TEFM, TRT-CGT4-1, UTP6, VILMIR 1 0 0 0 1
ADAT3, SCAMP4 0 0 1 0 1
ADGRL1 0 1 0 0 1
ADNP 0 0 1 0 1
ADNP2, ATP9B, C18orf63, CBLN2, CNDP1, CNDP2, CTDP1, CTDP1-DT, CYB5A, DIPK1C, FBXO15, GALR1, HSBP1L1, KCNG2, LINC00683, LINC00908, LINC01029, LINC01541, LINC01879, LINC01893, LINC01896, LINC01898, LINC01899, LINC01922, LINC01927, LINC02582, LINC02864, LOC105372187, LOC105372228, LOC107992389, LOC110120868, LOC110120915, LOC110120931, LOC110120935, LOC110121312, LOC110121314, LOC110121318, LOC110121330, LOC116276492, LOC121627836, LOC121627838, LOC121627839, LOC121627840, LOC121627841, LOC121852970, LOC124904333, LOC125371439, LOC125371440, LOC125371441, LOC125371442, LOC125371443, LOC126862788, LOC126862789, LOC126862790, LOC126862791, LOC126862792, LOC126862793, LOC126862794, LOC126862795, LOC126862796, LOC126862797, LOC126862798, LOC126862799, LOC126862800, LOC126862801, LOC126862802, LOC126862803, LOC126862804, LOC126862805, LOC126862806, LOC126862807, LOC126862808, LOC126862809, LOC126862810, LOC126862811, LOC126862812, LOC126862813, LOC126862814, LOC126862815, LOC126862816, LOC126862817, LOC126862818, LOC126862819, LOC126862820, LOC126862821, LOC126862822, LOC126862823, LOC126862824, LOC126862825, LOC126862826, LOC126862827, LOC126862828, LOC126862829, LOC126862830, LOC126862831, LOC126862832, LOC126862833, LOC126862834, LOC129391005, LOC129391006, LOC129391007, LOC129391008, LOC129456126, LOC130062708, LOC130062709, LOC130062710, LOC130062711, LOC130062712, LOC130062713, LOC130062714, LOC130062715, LOC130062716, LOC130062717, LOC130062718, LOC130062719, LOC130062720, LOC130062721, LOC130062722, LOC130062723, LOC130062724, LOC130062725, LOC130062726, LOC130062727, LOC130062728, LOC130062729, LOC130062730, LOC130062731, LOC130062732, LOC130062733, LOC130062734, LOC130062735, LOC130062736, LOC130062737, LOC130062738, LOC130062739, LOC130062740, LOC130062741, LOC130062742, LOC130062743, LOC130062744, LOC130062745, LOC130062746, LOC130062747, LOC130062748, LOC130062749, LOC130062750, LOC130062751, LOC130062752, LOC130062753, LOC130062754, LOC130062755, LOC130062756, LOC130062757, LOC130062758, LOC130062759, LOC130062760, LOC130062761, LOC130062762, LOC130062763, LOC130062764, LOC130062765, LOC130062766, LOC130062767, LOC130062768, LOC130062769, LOC130062770, LOC130062771, LOC130062772, LOC130062773, LOC130062774, LOC130062775, LOC130062776, LOC130062777, LOC130062778, LOC130062779, LOC130062780, LOC130062781, LOC130062782, LOC130062783, LOC130062784, LOC130062785, LOC130062786, LOC130062787, LOC130062788, LOC130062789, LOC130062790, LOC130062791, LOC130062792, LOC130062793, LOC130062794, LOC130062795, LOC130062796, LOC130062797, LOC130062798, LOC130062799, LOC130062800, LOC130062801, LOC130062802, LOC130062803, LOC130062804, LOC130062805, LOC130062806, LOC132090510, LOC132090511, LOC132090512, LOC132090513, LOC132090514, LOC132090515, LOC132090516, LOC132090517, LOC132090518, LOC132090519, LOC132090520, LOC132090521, LOC132090522, LOC132090523, LOC132090524, LOC132090525, LOC132090526, LOC132090527, LOC132090528, LOC132090529, LOC132090530, LOC132090900, LOC132090901, LOC132211114, LOC284240, LOC339298, MBP, MIR548AV, NETO1, NETO1-DT, NFATC1, PARD6G, PTGR3, RBFA, RBFADN, SALL3, SLC66A2, SMIM21, TIMM21, TSHZ1, TXNL4A, ZNF236, ZNF236-DT, ZNF407, ZNF516, ZNF516-DT 1 0 0 0 1
AFF4 0 1 0 0 1
AGPAT2 0 1 0 0 1
AICDA 0 0 1 0 1
AIFM3, ARVCF, C22orf39, CCDC188, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR11, DGCR2, DGCR5, DGCR6, DGCR6L, DGCR8, ESS2, FAM230B, FAM230F, FAM230G, FAM230H, FAM246A, FAM246C, FAM247A, GGT2, GNB1L, GP1BB, GSC2, HIRA, HSERVPRODH, KLHL22, LINC00895, LINC00896, LINC01311, LINC01637, LINC01651, LINC02891, LOC108510655, LOC110120888, LOC110121413, LOC112694764, LOC112694766, LOC112694767, LOC114004361, LOC116309126, LOC116309127, LOC121627929, LOC121627930, LOC121627931, LOC122455341, LOC125424386, LOC125424387, LOC125424388, LOC126863097, LOC126863098, LOC129391263, LOC129391264, LOC129391265, LOC129391266, LOC129391267, LOC129391268, LOC129391269, LOC130066949, LOC130066950, LOC130066951, LOC130066952, LOC130066953, LOC130066954, LOC130066955, LOC130066956, LOC130066957, LOC130066958, LOC130066959, LOC130066960, LOC130066961, LOC130066962, LOC130066963, LOC130066964, LOC130066965, LOC130066966, LOC130066967, LOC130066968, LOC130066969, LOC130066970, LOC130066971, LOC130066972, LOC130066973, LOC130066974, LOC130066975, LOC130066976, LOC130066977, LOC130066978, LOC130066979, LOC130066980, LOC130066981, LOC130066982, LOC130066983, LOC130066984, LOC130066985, LOC130066986, LOC130066987, LOC130066988, LOC130066989, LOC130066990, LOC130066991, LOC130066992, LOC130066993, LOC130066994, LOC130066995, LOC130066996, LOC130066997, LOC130066998, LOC130066999, LOC130067000, LOC130067001, LOC130067002, LOC130067003, LOC130067004, LOC130067005, LOC130067006, LOC130067007, LOC130067008, LOC130067009, LOC130067010, LOC130067011, LOC130067012, LOC130067013, LOC130067014, LOC130067015, LOC130067016, LOC130067017, LOC130067018, LOC130067019, LOC130067020, LOC132090627, LOC132090628, LOC132090629, LOC132090630, LOC132090631, LOC132090632, LOC132090633, LOC132090634, LOC132090635, LOC132090636, LOC132090637, LOC132090638, LOC132090918, LOC132090919, LOC132090920, LRRC74B, LZTR1, MED15, MIR1286, MIR1306, MIR185, MIR3618, MIR4761, MIR649, MIR6816, MRPL40, P2RX6, PI4KA, PRODH, RANBP1, RIMBP3B, RTL10, RTN4R, SCARF2, SEPT5-GP1BB, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, SNORA77B, TANGO2, TBX1, THAP7, TRMT2A, TSSK2, TXNRD2, UFD1, USP41, ZDHHC8, ZNF74 1 0 0 0 1
AIFM3, ARVCF, C22orf39, CCDC188, CDC45, CLDN5, CLTCL1, COMT, CRKL, DGCR11, DGCR2, DGCR5, DGCR6L, DGCR8, ESS2, FAM230G, FAM246C, GNB1L, GP1BB, GSC2, HIRA, KLHL22, LINC00895, LINC00896, LINC01311, LINC01637, LINC02891, LOC108510655, LOC110120888, LOC110121413, LOC112694764, LOC112694766, LOC112694767, LOC114004361, LOC116309126, LOC116309127, LOC121627929, LOC121627930, LOC121627931, LOC122455341, LOC125424386, LOC125424387, LOC125424388, LOC126863097, LOC126863098, LOC129391263, LOC129391264, LOC129391265, LOC129391266, LOC129391267, LOC130066949, LOC130066950, LOC130066951, LOC130066952, LOC130066953, LOC130066954, LOC130066955, LOC130066956, LOC130066957, LOC130066958, LOC130066959, LOC130066960, LOC130066961, LOC130066962, LOC130066963, LOC130066964, LOC130066965, LOC130066966, LOC130066967, LOC130066968, LOC130066969, LOC130066970, LOC130066971, LOC130066972, LOC130066973, LOC130066974, LOC130066975, LOC130066976, LOC130066977, LOC130066978, LOC130066979, LOC130066980, LOC130066981, LOC130066982, LOC130066983, LOC130066984, LOC130066985, LOC130066986, LOC130066987, LOC130066988, LOC130066989, LOC130066990, LOC130066991, LOC130066992, LOC130066993, LOC130066994, LOC130066995, LOC130066996, LOC130066997, LOC130066998, LOC130066999, LOC130067000, LOC130067001, LOC130067002, LOC130067003, LOC130067004, LOC130067005, LOC130067006, LOC130067007, LOC130067008, LOC130067009, LOC130067010, LOC130067011, LOC130067012, LOC130067013, LOC130067014, LOC130067015, LOC130067016, LOC130067017, LOC130067018, LOC130067019, LOC130067020, LOC132090627, LOC132090628, LOC132090629, LOC132090630, LOC132090631, LOC132090632, LOC132090633, LOC132090634, LOC132090635, LOC132090636, LOC132090637, LOC132090638, LOC132090918, LOC132090919, LOC132090920, LRRC74B, LZTR1, MED15, MIR1286, MIR1306, MIR185, MIR3618, MIR4761, MIR649, MIR6816, MRPL40, P2RX6, PI4KA, RANBP1, RTL10, RTN4R, SCARF2, SEPT5-GP1BB, SEPTIN5, SERPIND1, SLC25A1, SLC7A4, SNAP29, SNORA77B, TANGO2, TBX1, THAP7, TRMT2A, TSSK2, TXNRD2, UFD1, USP41, ZDHHC8, ZNF74 1 0 0 0 1
ALDH5A1 0 1 0 0 1
ALDOA, ASPHD1, BOLA2, BOLA2-SMG1P6, BOLA2B, C16orf54, CDIPT, CDIPTOSP, CORO1A, DOC2A, FIMP1, GDPD3, HIRIP3, INO80E, KCTD13, KCTD13-DT, KIF22, LOC112352679, LOC112352680, LOC112694756, LOC116276452, LOC121587540, LOC121587541, LOC121847976, LOC121847977, LOC125146439, LOC125146440, LOC125146441, LOC129390783, LOC130058756, LOC130058757, LOC130058758, LOC130058759, LOC130058760, LOC130058761, LOC130058762, LOC130058763, LOC130058764, LOC130058765, LOC130058766, LOC130058767, LOC130058768, LOC130058769, LOC130058770, LOC130058771, LOC130058772, LOC130058773, LOC130058774, LOC130058775, LOC130058776, LOC130058777, LOC130058778, LOC130058779, LOC130058780, LOC130058781, LOC130058782, LOC130058783, LOC130058784, LOC130058785, LOC130058786, LOC130058787, LOC130058788, LOC130058789, LOC130058790, LOC130058791, LOC130058792, LOC130058793, LOC130058794, LOC130058795, LOC130058796, LOC130058797, LOC130058798, LOC130058799, LOC130058800, LOC130058801, LOC130058802, LOC130058803, LOC130058804, LOC130058805, LOC130058806, LOC130058807, LOC130058808, LOC130058809, LOC130058810, LOC130058811, LOC130058812, LOC130058813, LOC130058814, LOC130058815, LOC130058816, LOC130058817, LOC130058818, LOC130058819, MAPK3, MAZ, MIR3680-2, MVP, MVP-DT, NPIPB12, NPIPB13, PAGR1, PPP4C, PRRT2, QPRT, SEZ6L2, SLX1A, SLX1A-SULT1A3, SLX1B, SLX1B-SULT1A4, SPN, SULT1A3, SULT1A4, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3, YPEL3-DT, ZG16 1 0 0 0 1
AMN, CDC42BPB, LOC130056553 1 0 0 0 1
AMT 0 1 0 0 1
ANKS1B, LOC130008530, LOC132090154 1 0 0 0 1
AP1G1 1 0 0 0 1
AP5Z1 0 0 1 0 1
APC, LOC129994371 1 0 0 0 1
APC2 0 0 1 0 1
ARHGEF9 1 0 0 0 1
ARID1A 0 1 0 0 1
ARID1B, LOC115308161 0 0 1 0 1
ARID4B, B3GALNT2, COA6, EDARADD, ERO1B, GGPS1, GNG4, GPR137B, IRF2BP2, LINC00184, LINC01132, LINC01348, LINC01354, LINC02768, LINC02961, LINC02971, LINC03108, LNCATV, LOC101927787, LOC105373209, LOC107546745, LOC107546746, LOC107546747, LOC107546778, LOC107546780, LOC107548103, LOC111365197, LOC111365208, LOC112577555, LOC112577556, LOC112577557, LOC112577558, LOC112577559, LOC112577560, LOC120908917, LOC120908918, LOC120908919, LOC120908920, LOC120908921, LOC120908922, LOC120908923, LOC122152340, LOC122152341, LOC122152342, LOC122152343, LOC122152344, LOC122152345, LOC126264117, LOC126806056, LOC126806057, LOC126806058, LOC126806059, LOC126806060, LOC126806061, LOC126806062, LOC126806063, LOC126806064, LOC126806065, LOC129388781, LOC129388782, LOC129388783, LOC129388784, LOC129388785, LOC129388786, LOC129869688, LOC129929020, LOC129932794, LOC129932795, LOC129932796, LOC129932797, LOC129932798, LOC129932799, LOC129932800, LOC129932801, LOC129932802, LOC129932803, LOC129932804, LOC129932805, LOC129932806, LOC129932807, LOC129932808, LOC129932809, LOC129932810, LOC129932811, LOC129932812, LOC129932813, LOC129932814, LOC129932815, LOC129932816, LOC129932817, LOC129932818, LOC129932819, LOC129932820, LOC129932821, LOC129932822, LOC129932823, LOC129932824, LOC129932825, LOC129932826, LOC129932827, LOC129932828, LOC129932829, LOC129932830, LOC129932831, LOC129932832, LOC129932833, LOC129932834, LOC129932835, LOC129932836, LOC129932837, LOC129932838, LOC129932839, LOC129932840, LOC129932841, LOC129932842, LOC129932843, LOC129932844, LOC129932845, LOC129932846, LOC129932847, LOC129932848, LOC129932849, LOC129932850, LOC129932851, LOC129932852, LOC129932853, LOC129932854, LOC129932855, LOC129932856, LOC129932857, LOC129932858, LOC129932859, LOC129932860, LOC129932861, LOC129932862, LOC129932863, LOC129932864, LOC129932865, LOC129932866, LOC129932867, LOC129932868, LOC129932869, LOC129932870, LOC129932871, LOC129932872, LOC129932873, LOC129932874, LOC129932875, LOC129932876, LOC129932877, LOC132088684, LYST, MIR1537, MIR4671, MIR4753, NID1, RBM34, SLC35F3, SNORA14B, TARBP1, TBCE, TOMM20 1 0 0 0 1
ARMC5 0 0 1 0 1
ARSA 1 0 0 0 1
ARSB 0 1 0 0 1
ARVCF, C22orf39, CDC45, CLDN5, CLTCL1, COMT, DGCR2, DGCR6, DGCR6L, DGCR8, ESS2, GGTLC3, GNB1L, GP1BB, GSC2, HIRA, MRPL40, PRODH, RANBP1, RIMBP3, RTL10, RTN4R, SEPTIN5, SLC25A1, TANGO2, TBX1, TMEM191B, TRMT2A, TSSK2, TXNRD2, UFD1, USP18, ZDHHC8 1 0 0 0 1
ARX 0 1 0 0 1
ASPM 0 1 0 0 1
ASXL1 0 1 0 0 1
ATAD3A 0 0 1 0 1
ATP10A, GABRA5, GABRB3, GABRG3, GOLGA6L2, HERC2, IPW, MAGEL2, MKRN3, NDN, NPAP1, OCA2, PWAR1, PWAR4, PWAR5, PWAR6, PWARSN, PWRN1, PWRN2, SNORD115-1, SNORD116-1, SNRPN, SNURF, UBE3A 0 1 0 0 1
ATP1A3 1 0 0 0 1
ATP2A2 1 0 0 0 1
AUTS2 0 1 0 0 1
AXDND1, NPHS2 0 1 0 0 1
BBS5 0 1 0 0 1
BCKDHA 1 0 0 0 1
BCL11A 0 0 1 0 1
BIVM, BIVM-ERCC5, ERCC5, FGF14, ITGBL1, LRTM3, METTL21C, NALCN, POGLUT2, SLC10A2, TEX30, TPP2 1 0 0 0 1
BLNK 0 1 0 0 1
BMPR2 1 0 0 0 1
BRAF 1 0 0 0 1
BRD4 1 0 0 0 1
BRWD3 0 1 0 0 1
BTK, TIMM8A 0 1 0 0 1
C10orf67, PTF1A 1 0 0 0 1
C2 1 0 0 0 1
C2, CFB 0 0 1 0 1
C6 1 0 0 0 1
CACNA1C 0 1 0 0 1
CACNA1I 0 1 0 0 1
CAMK2A 0 1 0 0 1
CAMTA1 1 0 0 0 1
CARS1 0 0 1 0 1
CASK 0 1 0 0 1
CCDC141, TTN 1 0 0 0 1
CCDC39, TTC14 0 1 0 0 1
CCNO, LOC129993895 1 0 0 0 1
CDC42BPB 0 0 1 0 1
CDH23, PSAP 0 1 0 0 1
CDK13 0 1 0 0 1
CDK18, CNTN2, DSTYK, ELK4, KLHDC8A, LEMD1, LRRN2, MDM4, NFASC, NUAK2, NUCKS1, PIK3C2B, PM20D1, RAB29, RBBP5, SLC26A9, SLC41A1, SLC45A3, SLC60A1, TMCC2, TMEM81 1 0 0 0 1
CDK19 0 0 1 0 1
CDRT15, CDRT3, CDRT4, CDRT7, CDRT8, COX10, HS3ST3B1, LINC02096, LOC101928475, LOC105943586, LOC112529896, LOC125177427, LOC126862511, LOC126862512, LOC126862513, LOC130060304, LOC130060305, LOC130060306, LOC130060307, LOC132090456, LROMI1, MGC12916, MIR4731, PMP22, TEKT3, TVP23C, TVP23C-CDRT4 0 1 0 0 1
CFH 0 1 0 0 1
CFI 1 0 0 0 1
CFTR, LOC113633877 1 0 0 0 1
CHAT 0 0 1 0 1
CHD2 0 1 0 0 1
CHD3 0 0 1 0 1
CHN1 0 0 1 0 1
CIB2, SH2D7 0 1 0 0 1
CIC, PAFAH1B3 0 0 1 0 1
CIMIP2B, RUSC2 0 0 1 0 1
CLCN3 0 0 1 0 1
CLCN5, LOC126863258 0 1 0 0 1
CNKSR2 0 1 0 0 1
CNOT1 1 0 0 0 1
COL11A2 1 0 0 0 1
COL13A1 0 1 0 0 1
COL1A2 0 1 0 0 1
COL3A1 0 0 1 0 1
COL6A2 0 1 0 0 1
COLQ 1 0 0 0 1
COPA 0 0 1 0 1
COQ2 1 0 0 0 1
COQ2, LOC112997540 0 1 0 0 1
CPA1 0 0 1 0 1
CREB3L3 0 1 0 0 1
CREBBP 0 0 1 0 1
CRTAP 0 0 1 0 1
CSF1R 1 0 0 0 1
CSF2RA 0 1 0 0 1
CSNK2A1 0 1 0 0 1
CSRP3 0 1 0 0 1
CTCF 0 1 0 0 1
CTNNA2 0 0 1 0 1
CTNNB1, LOC126806658 0 1 0 0 1
CUL3 0 1 0 0 1
CUX1 1 0 0 0 1
CYLD 0 1 0 0 1
DARS1 0 0 1 0 1
DARS2 1 0 0 0 1
DCTN5, PALB2 1 0 0 0 1
DCX 1 0 0 0 1
DDX11 0 1 0 0 1
DENND5A, TMEM41B 0 0 1 0 1
DICER1 0 1 0 0 1
DLG3 0 0 1 0 1
DLL3 0 1 0 0 1
DNAAF4, DNAAF4-CCPG1 1 0 0 0 1
DNAH11, LOC126859961 0 1 0 0 1
DNAH11, LOC126859962 1 0 0 0 1
DNAH5, LOC126807318 0 1 0 0 1
DNAI2 0 0 1 0 1
DNAJB2 0 0 1 0 1
DNM1, LOC113839516 0 1 0 0 1
DNM2 0 1 0 0 1
DOCK7 1 0 0 0 1
DPP6 0 1 0 0 1
DRC1 0 1 0 0 1
DSG2 1 0 0 0 1
DYNC2H1 1 0 0 0 1
DYSF 1 0 0 0 1
EDA 1 0 0 0 1
EDAR, RANBP2 0 1 0 0 1
EDNRB 0 1 0 0 1
EEF1A2, FNDC11, GMEB2, HELZ2, KCNQ2, PPDPF, PTK6, RTEL1, SRMS, STMN3 1 0 0 0 1
EIF2AK4 0 0 1 0 1
EIF2S3 0 0 1 0 1
EP300 0 1 0 0 1
EPHB6, TRPV6 0 0 1 0 1
EPM2A 1 0 0 0 1
ERF 0 1 0 0 1
FAS 0 1 0 0 1
FENDRR, FOXF1 1 0 0 0 1
FGA 1 0 0 0 1
FGFR2 0 1 0 0 1
FHOD3 0 1 0 0 1
FKRP 1 0 0 0 1
FLCN 1 0 0 0 1
FLNB 1 0 0 0 1
FOXN1 0 1 0 0 1
GABRB3 0 1 0 0 1
GABRG2 0 1 0 0 1
GALK1 1 0 0 0 1
GATA1 0 1 0 0 1
GATA2 0 1 0 0 1
GATA4 0 1 0 0 1
GCDH 0 1 0 0 1
GCH1 0 1 0 0 1
GCK 0 1 0 0 1
GJB6 0 0 1 0 1
GLB1 0 1 0 0 1
GLDN 1 0 0 0 1
GRIA1 1 0 0 0 1
GRIN2D 0 0 1 0 1
GSDME 1 0 0 0 1
GSTZ1 0 1 0 0 1
HAX1 1 0 0 0 1
HIVEP2 0 1 0 0 1
HMGCL 1 0 0 0 1
HNF1A 0 1 0 0 1
HNMT 0 1 0 0 1
HNRNPU 0 1 0 0 1
HPGD 1 0 0 0 1
HR 0 0 1 0 1
HRAS, LRRC56 1 0 0 0 1
HSD17B10 0 1 0 0 1
HTT 0 0 1 0 1
IDS 1 0 0 0 1
IKZF1 0 1 0 0 1
IL10RA 0 0 1 0 1
IL1RAPL1 0 1 0 0 1
IL2RG 1 0 0 0 1
IL36RN 0 1 0 0 1
IL6ST 0 0 1 0 1
IRAK1BP1, PHIP 0 1 0 0 1
IRF2BP2 0 0 1 0 1
IRF6 0 1 0 0 1
IRF7 0 0 1 0 1
ITGB2 1 0 0 0 1
ITPR1 1 0 0 0 1
JMJD8, STUB1 0 0 1 0 1
KAT6A 0 1 0 0 1
KCNA2 1 0 0 0 1
KCNJ11 0 1 0 0 1
KCNQ2 1 0 0 0 1
KCNQ4 0 0 1 0 1
KCNT1 0 0 1 0 1
KDM5C 0 1 0 0 1
KDM6B 0 0 1 0 1
KIT 0 0 1 0 1
KMT2B 0 0 1 0 1
KMT2E 0 1 0 0 1
KRAS 1 0 0 0 1
KRT14 0 1 0 0 1
L1CAM 0 1 0 0 1
LAMA3 0 1 0 0 1
LAMC2 1 0 0 0 1
LARP7 0 1 0 0 1
LDLR 0 1 0 0 1
LHFPL5 1 0 0 0 1
LIMS4, MALL, NPHP1, RGPD6 1 0 0 0 1
LOC102724058, SCN1A 0 0 1 0 1
LOC106029312, NCF1 0 1 0 0 1
LOC110011216, PHOX2B 1 0 0 0 1
LOC110121269, SCN5A 0 0 1 0 1
LOC111811965, MIR4733HG, NF1 1 0 0 0 1
LOC113783879, LOC130000874, SPAG1, ZNNT1 1 0 0 0 1
LOC113875024, LOC121627966, LOC130068157, LOC130068158, LOC130068159, USP9X 0 1 0 0 1
LOC122152296, USH2A 1 0 0 0 1
LOC125467768, PCDH19 1 0 0 0 1
LOC126806423, TTN 0 1 0 0 1
LOC126807127, NFKB1 0 1 0 0 1
LOC126807619, NSD1 0 1 0 0 1
LOC126861339, SDHD 1 0 0 0 1
LOC126861615, PAH 1 0 0 0 1
LOC126861898, MYH7 0 1 0 0 1
LOC129992813, PKD2 0 1 0 0 1
LOC130002652, STXBP1 1 0 0 0 1
LOC130009573, RFXAP 0 1 0 0 1
LOC130062899, STK11 0 0 1 0 1
LOC130067357, RAC2 0 0 1 0 1
LOC132090430, WWOX 1 0 0 0 1
LPL 0 0 1 0 1
LRBA, MAB21L2 0 0 1 0 1
LRSAM1 0 1 0 0 1
LZTR1, THAP7 0 1 0 0 1
MAN2B1 0 1 0 0 1
MAOA 0 1 0 0 1
MAPT 0 1 0 0 1
MDH2 0 0 1 0 1
MEA1, PPP2R5D 1 0 0 0 1
MECOM 0 0 1 0 1
MEN1 0 1 0 0 1
MET 0 0 1 0 1
MFN2 1 0 0 0 1
MIR1225, PKD1, TSC2 0 1 0 0 1
MIR6857, SMC1A 0 0 1 0 1
MPZL2 1 0 0 0 1
MSX1 0 1 0 0 1
MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-TA, MT-TC, MT-TD, MT-TG, MT-TH, MT-TI, MT-TK, MT-TM, MT-TN, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TW, MT-TY 1 0 0 0 1
MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-TA, MT-TC, MT-TD, MT-TG, MT-TH, MT-TK, MT-TN, MT-TR, MT-TS1, MT-TS2, MT-TW, MT-TY 0 1 0 0 1
MTM1 0 1 0 0 1
MTTP 0 1 0 0 1
MUTYH 1 0 0 0 1
MYD88 1 0 0 0 1
MYH11 0 0 1 0 1
MYH3 0 0 1 0 1
MYT1L 0 1 0 0 1
NAA15 0 1 0 0 1
NAGLU 0 1 0 0 1
NALCN 0 0 1 0 1
NARS1 0 1 0 0 1
NCKAP1 0 1 0 0 1
NEU1 0 0 1 0 1
NF2 1 0 0 0 1
NFIB 1 0 0 0 1
NKX2-1, SFTA3 0 0 1 0 1
NLRC4 0 0 1 0 1
NR2F1 0 1 0 0 1
OCA2 0 0 1 0 1
ODC1 0 1 0 0 1
OPA1 1 0 0 0 1
OTC 0 1 0 0 1
OTOGL 1 0 0 0 1
PAX6 1 0 0 0 1
PCCB 0 1 0 0 1
PCDH19 0 1 0 0 1
PDHA1 0 1 0 0 1
PEX1 0 0 1 0 1
PEX2 1 0 0 0 1
PHF21A 1 0 0 0 1
PHIP 0 0 1 0 1
PIK3CD 1 0 0 0 1
PINK1 0 0 1 0 1
PKP2 1 0 0 0 1
PLOD1 0 1 0 0 1
PLS3 0 0 1 0 1
PMP22 0 0 1 0 1
PMS2 0 0 1 0 1
PNPLA4, PUDP, STS, VCX, VCX3A 1 0 0 0 1
PNPLA6 0 0 1 0 1
PNPLA8 0 0 1 0 1
POGZ 1 0 0 0 1
POLR2A 0 1 0 0 1
POU3F4 0 1 0 0 1
PPM1N, RTN2 0 0 1 0 1
PRODH 0 0 1 0 1
PRSS12 0 0 1 0 1
PSMD12 0 1 0 0 1
PTPRQ 0 0 1 0 1
PUM1 0 1 0 0 1
PURA 0 1 0 0 1
RAB39B 0 0 1 0 1
RARB, TOP2B 0 1 0 0 1
RARS1 0 1 0 0 1
RASSF1, ZMYND10 0 1 0 0 1
RELA 0 1 0 0 1
RET 0 0 0 1 1
RNU4-1, RNU4-2, SIRT4 1 0 0 0 1
RPL18 0 1 0 0 1
RSPH3 1 0 0 0 1
RSPH4A, ZUP1 1 0 0 0 1
RTEL1, RTEL1-TNFRSF6B 0 1 0 0 1
RUNX2 0 1 0 0 1
RYR2 0 1 0 0 1
SAMD9L 0 1 0 0 1
SBDS 1 0 0 0 1
SBF1 0 0 1 0 1
SCN10A 0 0 1 0 1
SCN1A, SCN9A 0 0 1 0 1
SCN2A 0 1 0 0 1
SCN4A 1 0 0 0 1
SCN5A 0 1 0 0 1
SCNN1A 1 0 0 0 1
SERPINA1 1 0 0 0 1
SETX 0 1 0 0 1
SFTPA2 0 1 0 0 1
SFTPB 0 0 1 0 1
SH2D1A 1 0 0 0 1
SHOC2 1 0 0 0 1
SI 0 1 0 0 1
SIX1 0 1 0 0 1
SLC12A2 0 1 0 0 1
SLC22A5 0 1 0 0 1
SLC2A1 0 1 0 0 1
SLC2A2 1 0 0 0 1
SLC34A3 0 1 0 0 1
SLC37A4 1 0 0 0 1
SLC4A1 1 0 0 0 1
SLC6A1 1 0 0 0 1
SMC3 0 1 0 0 1
SON 1 0 0 0 1
SORD 0 1 0 0 1
SOS1 1 0 0 0 1
SOST 0 1 0 0 1
SOX4 0 1 0 0 1
SPAG1 1 0 0 0 1
SPG11 1 0 0 0 1
SPR 0 0 1 0 1
SPTB 0 1 0 0 1
SPTBN2 0 0 1 0 1
STAG2 1 0 0 0 1
SYNE1 0 0 1 0 1
SYNE2 0 1 0 0 1
TAB2 0 1 0 0 1
TAFAZZIN 0 1 0 0 1
TBX5 0 1 0 0 1
TCF12 0 1 0 0 1
TCF3 0 1 0 0 1
TCF7L2 0 1 0 0 1
TENM4 0 0 1 0 1
THSD4 0 0 1 0 1
TJP2 0 0 1 0 1
TMC1 0 0 1 0 1
TNFRSF1A 1 0 0 0 1
TNNT2 0 0 1 0 1
TNRC6B 0 1 0 0 1
TOGARAM1 0 0 1 0 1
TP53 0 0 1 0 1
TPK1 0 1 0 0 1
TRAF7 1 0 0 0 1
TRAPPC9 0 0 1 0 1
TRPM6 0 0 1 0 1
TRPS1 0 1 0 0 1
TTR 1 0 0 0 1
TUBA1A 1 0 0 0 1
TUBA4A 0 1 0 0 1
TUBB4A 0 1 0 0 1
TUBG1 0 1 0 0 1
UMPS 0 0 1 0 1
UNC13A 0 0 1 0 1
UQCRB 0 1 0 0 1
USH1C 1 0 0 0 1
USH2A 1 0 0 0 1
VPS13B 0 1 0 0 1
WAS 1 0 0 0 1
WASHC5 0 0 1 0 1
WDR45 0 1 0 0 1
WFS1 1 0 0 0 1
WNT10A 1 0 0 0 1
XIAP 0 1 0 0 1
YARS1 0 1 0 0 1
ZEB2 0 1 0 0 1
ZNF148 0 0 1 0 1
ZNF462 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 600
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign total
Polycystic kidney disease, adult type 10 19 1 0 30
Familial cancer of breast 7 1 12 0 20
Breast-ovarian cancer, familial, susceptibility to, 2 16 0 1 1 18
Phenylketonuria 9 7 0 0 16
Neurofibromatosis, type 1 10 4 1 0 15
Breast-ovarian cancer, familial, susceptibility to, 1 11 0 0 1 12
Primary ciliary dyskinesia 3 3 2 7 0 12
Alagille syndrome due to a JAG1 point mutation 2 3 5 0 10
Autosomal recessive nonsyndromic hearing loss 1A 9 0 0 0 9
KBG syndrome 2 7 0 0 9
Polycystic kidney disease 2 3 4 2 0 9
Dilated cardiomyopathy 1G 1 4 3 0 8
Exostoses, multiple, type 1 5 2 1 0 8
Primary ciliary dyskinesia 7 2 6 0 0 8
Wilson disease 4 4 0 0 8
Cystic fibrosis 4 0 3 0 7
Marfan syndrome 1 5 1 0 7
X-linked agammaglobulinemia 4 3 0 0 7
Colorectal cancer, hereditary nonpolyposis, type 2 2 1 3 0 6
Hereditary pancreatitis 2 1 3 0 6
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome 0 1 5 0 6
Primary ciliary dyskinesia 22 1 5 0 0 6
Roifman syndrome 0 6 0 0 6
Breast-ovarian cancer, familial, susceptibility to, 5 5 0 0 0 5
CHEK2-related cancer predisposition 3 2 0 0 5
Cornelia de Lange syndrome 1 3 1 1 0 5
Hypertrophic cardiomyopathy 1 1 4 0 0 5
Lynch syndrome 1 4 1 0 0 5
Medium-chain acyl-coenzyme A dehydrogenase deficiency 2 3 0 0 5
Methylmalonic aciduria, cblA type 4 1 0 0 5
Rett syndrome 4 1 0 0 5
Severe early-childhood-onset retinal dystrophy 4 0 1 0 5
Autosomal recessive nonsyndromic hearing loss 21 0 0 4 0 4
Autosomal recessive nonsyndromic hearing loss 42 2 0 2 0 4
Autosomal recessive nonsyndromic hearing loss 8 2 1 1 0 4
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 0 4 0 0 4
Familial Mediterranean fever, autosomal dominant 3 0 1 0 4
Generalized epilepsy with febrile seizures plus, type 2 1 2 1 0 4
Glycogen storage disease, type II 2 2 0 0 4
Hereditary spastic paraplegia 4 1 3 0 0 4
Lynch syndrome 5 2 0 2 0 4
Primary ciliary dyskinesia 11 1 0 3 0 4
Primary ciliary dyskinesia 15 4 0 0 0 4
Protoporphyria, erythropoietic, 1 2 2 0 0 4
Severe myoclonic epilepsy in infancy 2 1 1 0 4
Stuve-Wiedemann syndrome 2 0 0 4 0 4
Very long chain acyl-CoA dehydrogenase deficiency 1 2 1 0 4
X-linked Alport syndrome 0 3 1 0 4
Alagille syndrome due to a NOTCH2 point mutation 0 1 1 1 3
Alveolar capillary dysplasia with pulmonary venous misalignment 2 1 0 0 3
Autosomal recessive nonsyndromic hearing loss 18B 1 2 0 0 3
Autosomal recessive nonsyndromic hearing loss 3 0 3 0 0 3
Autosomal recessive nonsyndromic hearing loss 4 3 0 0 0 3
Basal cell nevus syndrome 1 0 3 0 0 3
Breast-ovarian cancer, familial, susceptibility to, 3 2 1 0 0 3
Breast-ovarian cancer, familial, susceptibility to, 4 1 0 2 0 3
Charcot-Marie-Tooth disease X-linked dominant 1 1 1 1 0 3
Ciliary dyskinesia, primary, 38 1 2 0 0 3
Coffin-Siris syndrome 1 0 1 2 0 3
Combined immunodeficiency due to LRBA deficiency 0 0 3 0 3
Cowden syndrome 1 2 1 0 0 3
Developmental and epileptic encephalopathy, 4 1 2 0 0 3
Exostoses, multiple, type 2 2 1 0 0 3
Familial cold autoinflammatory syndrome 2 0 0 3 0 3
Glycogen storage disease, type V 1 0 2 0 3
Hepatic methionine adenosyltransferase deficiency 0 3 0 0 3
Hereditary diffuse gastric adenocarcinoma 0 0 3 0 3
Hyperphosphatasia with intellectual disability syndrome 1 2 0 1 0 3
Hypertrophic cardiomyopathy 4 3 0 0 0 3
Immunodeficiency, common variable, 12 1 2 0 0 3
Intellectual developmental disorder 61 0 1 2 0 3
Intellectual disability, autosomal dominant 45 0 3 0 0 3
Intellectual disability, autosomal dominant 5 1 2 0 0 3
Kleefstra syndrome 2 1 0 2 0 3
Koolen-de Vries syndrome 0 3 0 0 3
L-2-hydroxyglutaric aciduria 2 1 0 0 3
Long QT syndrome 2 0 3 0 0 3
Majeed syndrome 0 0 3 0 3
Malignant hyperthermia, susceptibility to, 1 2 0 1 0 3
Mucopolysaccharidosis, MPS-III-A 1 2 0 0 3
Noonan syndrome 1 3 0 0 0 3
Pheochromocytoma/paraganglioma syndrome 5 0 3 0 0 3
Primary ciliary dyskinesia 14 0 2 1 0 3
Primary ciliary dyskinesia 21 0 3 0 0 3
Primary ciliary dyskinesia 23 0 1 2 0 3
Primary ciliary dyskinesia 35 3 0 0 0 3
Primary ciliary dyskinesia 5 1 2 0 0 3
Progressive familial intrahepatic cholestasis type 1 0 3 0 0 3
Pyridoxine-dependent epilepsy 2 0 1 0 3
Telangiectasia, hereditary hemorrhagic, type 2 1 2 0 0 3
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia 0 3 0 0 3
11q partial monosomy syndrome 2 0 0 0 2
15q11q13 microduplication syndrome 2 0 0 0 2
3-methylcrotonyl-CoA carboxylase 2 deficiency 1 1 0 0 2
Anemia, congenital dyserythropoietic, type 1a 1 1 0 0 2
Anemia, nonspherocytic hemolytic, due to G6PD deficiency 0 1 0 1 2
Argininosuccinate lyase deficiency 0 2 0 0 2
Ataxia-telangiectasia syndrome 1 0 1 0 2
Autism, susceptibility to, 17 0 1 1 0 2
Autoimmune interstitial lung disease-arthritis syndrome 0 0 2 0 2
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation 0 0 2 0 2
Autoinflammatory syndrome, familial, Behcet-like 1 1 1 0 0 2
Autosomal dominant nonsyndromic hearing loss 7 0 1 1 0 2
Autosomal recessive Alport syndrome 2 0 0 0 2
Autosomal recessive limb-girdle muscular dystrophy type 2L 1 1 0 0 2
Autosomal recessive nonsyndromic hearing loss 2 2 0 0 0 2
Autosomal recessive nonsyndromic hearing loss 77 2 0 0 0 2
Becker muscular dystrophy 2 0 0 0 2
Beta-thalassemia HBB/LCRB 2 0 0 0 2
Bifunctional peroxisomal enzyme deficiency 1 1 0 0 2
Biotinidase deficiency 2 0 0 0 2
Brain small vessel disease 2A, autosomal dominant 0 2 0 0 2
Cardiac anomalies - developmental delay - facial dysmorphism syndrome 0 1 1 0 2
Cardiofaciocutaneous syndrome 3 1 1 0 0 2
Carnitine palmitoyl transferase II deficiency, myopathic form 1 1 0 0 2
Charcot-Marie-Tooth disease, type IA 0 1 1 0 2
Cholestasis, progressive familial intrahepatic, 5 0 0 2 0 2
Cholestatic liver disease 1 1 0 0 2
Chromosome 2q32-q33 deletion syndrome 2 0 0 0 2
Coenzyme Q10 deficiency, primary, 1 1 1 0 0 2
Complement component 2 deficiency 1 0 1 0 2
Complex cortical dysplasia with other brain malformations 1 0 2 0 0 2
Complex neurodevelopmental disorder 0 2 0 0 2
Cone-rod dystrophy 3 1 1 0 0 2
Congenital myopathy 22B, severe fetal 0 0 2 0 2
Cystinuria 1 1 0 0 2
Deficiency of acetyl-CoA acetyltransferase 2 0 0 0 2
Dermatitis, atopic, 2 1 1 0 0 2
Developmental and epileptic encephalopathy, 13 0 0 2 0 2
Developmental and epileptic encephalopathy, 9 1 1 0 0 2
Developmental delay, impaired speech, and behavioral abnormalities 0 2 0 0 2
Dias-Logan syndrome; Intellectual disability, autosomal dominant 45 0 0 2 0 2
Dilated cardiomyopathy 1S 1 0 1 0 2
Dubin-Johnson syndrome 0 2 0 0 2
Epilepsy, familial focal, with variable foci 1 0 1 1 0 2
Epilepsy, familial focal, with variable foci 3 1 0 1 0 2
Episodic kinesigenic dyskinesia 1 2 0 0 0 2
Fabry disease 0 1 1 0 2
Familial Mediterranean fever 0 1 1 0 2
Familial adenomatous polyposis 1 1 1 0 0 2
Familial adenomatous polyposis 4 0 0 2 0 2
Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome 0 0 2 0 2
Glaucoma 3A 2 0 0 0 2
Glycogen storage disease IXa1 0 2 0 0 2
Granulomatous disease, chronic, X-linked 1 1 0 0 2
Hemochromatosis type 1 2 0 0 0 2
Hereditary spastic paraplegia 7 0 1 1 0 2
Heterotopia, periventricular, X-linked dominant 1 0 1 0 2
Hyperimmunoglobulin D with periodic fever 0 2 0 0 2
Hypogonadotropic hypogonadism 6 with or without anosmia 0 0 2 0 2
Hypokalemic periodic paralysis, type 1 1 0 1 0 2
Hypoparathyroidism, deafness, renal disease syndrome 0 2 0 0 2
Immunodeficiency, common variable, 14 1 0 1 0 2
Immunodeficiency, common variable, 2 0 0 2 0 2
Infantile liver failure syndrome 2 1 1 0 0 2
Intellectual developmental disorder with autism and macrocephaly 0 0 2 0 2
Intellectual developmental disorder with cardiac defects and dysmorphic facies 0 1 1 0 2
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold 2 0 0 0 2
Intellectual disability, X-linked syndromic, Turner type 0 1 1 0 2
Intellectual disability, autosomal recessive 65 0 0 2 0 2
Interstitial lung disease due to ABCA3 deficiency 0 1 1 0 2
Isovaleryl-CoA dehydrogenase deficiency 0 2 0 0 2
Lamb-Shaffer syndrome 0 2 0 0 2
Long QT syndrome 1 2 0 0 0 2
Melanoma, cutaneous malignant, susceptibility to, 2 1 1 0 0 2
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 0 2 0 0 2
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 0 2 0 0 2
Mitochondrial complex IV deficiency, nuclear type 1 0 2 0 0 2
Multiple acyl-CoA dehydrogenase deficiency 2 0 0 0 2
Multiple congenital anomalies-hypotonia-seizures syndrome 1 1 1 0 0 2
Multiple congenital anomalies-hypotonia-seizures syndrome 3 2 0 0 0 2
Neurodevelopmental disorder with or without early-onset generalized epilepsy 1 1 0 0 2
Neuronal ceroid lipofuscinosis 1 2 0 0 0 2
Noonan syndrome 8 1 1 0 0 2
Oculocutaneous albinism type 1B 1 1 0 0 2
Osteogenesis imperfecta type I 0 2 0 0 2
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 0 1 1 0 2
PMM2-congenital disorder of glycosylation 0 2 0 0 2
Pancreatic agenesis 2 1 1 0 0 2
Pancreatic cancer, susceptibility to, 2 1 0 1 0 2
Parenti-mignot neurodevelopmental syndrome 0 2 0 0 2
Peroxisome biogenesis disorder 7A (Zellweger) 0 2 0 0 2
Perrault syndrome 5 0 2 0 0 2
Polycystic kidney disease 3 with or without polycystic liver disease 0 2 0 0 2
Primary ciliary dyskinesia 20 0 2 0 0 2
Primary ciliary dyskinesia 24 1 0 1 0 2
Primary ciliary dyskinesia 28 2 0 0 0 2
Progressive sclerosing poliodystrophy 2 0 0 0 2
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 0 0 2 0 2
Pulmonary hypertension, primary, 7 0 1 1 0 2
Recessive dystrophic epidermolysis bullosa 1 1 0 0 2
Retinitis pigmentosa 1 0 2 0 0 2
STING-associated vasculopathy with onset in infancy 2 0 0 0 2
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 1 1 0 0 2
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 1 1 0 0 2
Smith-Lemli-Opitz syndrome 1 1 0 0 2
Supravalvar aortic stenosis 0 2 0 0 2
Surfactant metabolism dysfunction, pulmonary, 2 1 1 0 0 2
Tuberous sclerosis 1 1 0 1 0 2
Tuberous sclerosis 2 0 2 0 0 2
Usher syndrome type 2A 2 0 0 0 2
Variegate porphyria 0 2 0 0 2
Waardenburg syndrome type 1 0 2 0 0 2
16p13.11 microdeletion 1 0 0 0 1
1q32.1microduplication 1 0 0 0 1
22q11.2 microdeletion 1 0 0 0 1
3-Methylglutaconic aciduria type 2 0 1 0 0 1
7q22 microdeletion 1 0 0 0 1
ACTH-independent macronodular adrenal hyperplasia 2 0 0 1 0 1
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 0 0 1 0 1
ANKS1B-related disorder 1 0 0 0 1
Abetalipoproteinaemia 0 1 0 0 1
Acrodermatitis continua suppurativa of Hallopeau 0 1 0 0 1
Actin accumulation myopathy 0 0 1 0 1
Adrenoleukodystrophy 0 1 0 0 1
Agammaglobulinemia 4, autosomal recessive 0 1 0 0 1
Agammaglobulinemia 7, autosomal recessive 0 0 1 0 1
Agammaglobulinemia 8b, autosomal recessive 0 1 0 0 1
Alopecia universalis congenita 0 0 1 0 1
Alpha-1-antitrypsin deficiency 1 0 0 0 1
Amyloidosis, hereditary systemic 1 1 0 0 0 1
Amyotrophic lateral sclerosis 0 0 1 0 1
Amyotrophic lateral sclerosis type 22 0 1 0 0 1
Aortic aneurysm, familial thoracic 12 0 0 1 0 1
Aortic aneurysm, familial thoracic 4 0 0 1 0 1
Arrhythmogenic right ventricular dysplasia 10 1 0 0 0 1
Arrhythmogenic right ventricular dysplasia 9 1 0 0 0 1
Asphyxiating thoracic dystrophy 3 1 0 0 0 1
Atrioventricular septal defect 4 0 1 0 0 1
Autism spectrum disorder due to AUTS2 deficiency 0 1 0 0 1
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome 0 0 1 0 1
Autoimmune lymphoproliferative syndrome type 1 0 1 0 0 1
Autosomal dominant distal renal tubular acidosis 1 0 0 0 1
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 20 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 23 0 1 0 0 1
Autosomal dominant nonsyndromic hearing loss 2A 0 0 1 0 1
Autosomal dominant nonsyndromic hearing loss 5 1 0 0 0 1
Autosomal dominant nonsyndromic hearing loss 6 1 0 0 0 1
Autosomal dominant optic atrophy classic form 1 0 0 0 1
Autosomal recessive ataxia, Beauce type 0 0 1 0 1
Autosomal recessive early-onset Parkinson disease 6 0 0 1 0 1
Autosomal recessive hypophosphatemic bone disease 0 1 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2A 0 1 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2B 1 0 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2I 1 0 0 0 1
Autosomal recessive limb-girdle muscular dystrophy type 2J 0 0 1 0 1
Autosomal recessive nonsyndromic hearing loss 28 0 0 1 0 1
Autosomal recessive nonsyndromic hearing loss 48 0 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 67 1 0 0 0 1
Autosomal recessive nonsyndromic hearing loss 7 0 0 1 0 1
Autosomal recessive nonsyndromic hearing loss 84A 0 0 1 0 1
Autosomal recessive nonsyndromic hearing loss 84B 1 0 0 0 1
BAP1-related tumor predisposition syndrome 1 0 0 0 1
Bardet-Biedl syndrome 5 0 1 0 0 1
Bethlem myopathy 1B 0 1 0 0 1
Birt-Hogg-Dube syndrome 1 1 0 0 0 1
Bohring-Opitz syndrome 0 1 0 0 1
Bosch-Boonstra-Schaaf optic atrophy syndrome 0 1 0 0 1
Brain-lung-thyroid syndrome 0 0 1 0 1
Brooke-Spiegler syndrome 0 1 0 0 1
Brugada syndrome 1 0 1 0 0 1
Brunner syndrome 0 1 0 0 1
C1 inhibitor deficiency 0 1 0 0 1
CHARGE syndrome 0 1 0 0 1
CHD7-related CHARGE syndrome 0 1 0 0 1
CTCF-related neurodevelopmental disorder 0 1 0 0 1
Cardiac, facial, and digital anomalies with developmental delay 1 0 0 0 1
Cardiofaciocutaneous syndrome 1 1 0 0 0 1
Catecholaminergic polymorphic ventricular tachycardia 1 0 1 0 0 1
Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease 1 0 0 0 1
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome 1 0 0 0 1
Cerebellar dysfunction with variable cognitive and behavioral abnormalities 1 0 0 0 1
Channelopathy-associated congenital insensitivity to pain, autosomal recessive 0 0 1 0 1
Charcot-Marie-Tooth disease axonal type 2P 0 1 0 0 1
Charcot-Marie-Tooth disease dominant intermediate B 0 1 0 0 1
Charcot-Marie-Tooth disease dominant intermediate C 0 1 0 0 1
Charcot-Marie-Tooth disease type 2A2 1 0 0 0 1
Charcot-Marie-Tooth disease type 4B3 0 0 1 0 1
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency 0 1 0 0 1
Chilton-Okur-Chung neurodevelopmental syndrome 0 0 1 0 1
Cholestasis, progressive familial intrahepatic, 4 0 0 1 0 1
Chromosome 17q11.2 deletion syndrome, 1.4Mb 1 0 0 0 1
Chromosome 22q11.2 microduplication syndrome 1 0 0 0 1
Cleidocranial dysostosis 0 1 0 0 1
Coffin-Siris syndrome 10 0 1 0 0 1
Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome 0 1 0 0 1
Cohen syndrome 0 1 0 0 1
Coloboma, ocular, autosomal dominant 1 0 0 0 1
Combined PSAP deficiency 0 1 0 0 1
Combined immunodeficiency, X-linked 1 0 0 0 1
Complement component 6 deficiency 1 0 0 0 1
Complex cortical dysplasia with other brain malformations 4 0 1 0 0 1
Congenital disorder of glycosylation, type IIw 1 0 0 0 1
Congenital generalized lipodystrophy type 1 0 1 0 0 1
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 0 1 0 0 1
Congenital heart defects, multiple types, 2 0 1 0 0 1
Congenital multicore myopathy with external ophthalmoplegia 0 0 1 0 1
Congenital myasthenic syndrome 19 1 0 0 0 1
Congenital myasthenic syndrome 5 1 0 0 0 1
Congenital myotonia, autosomal dominant form 1 0 0 0 1
Congenital myotonia, autosomal recessive form 0 1 0 0 1
Cornelia de Lange syndrome 3 0 1 0 0 1
Cornelia de Lange syndrome 6 1 0 0 0 1
Cortical dysplasia, complex, with other brain malformations 9 0 0 1 0 1
Costello syndrome 1 0 0 0 1
Craniodiaphyseal dysplasia, autosomal dominant 0 1 0 0 1
Craniosynostosis 4 0 1 0 0 1
Crouzon syndrome 0 1 0 0 1
Cyclical neutropenia 0 0 1 0 1
Deficiency of alpha-mannosidase 0 1 0 0 1
Deficiency of galactokinase 1 0 0 0 1
Deficiency of hydroxymethylglutaryl-CoA lyase 1 0 0 0 1
Deletion of long arm of chromosome 18 1 0 0 0 1
Delpire-McNeill syndrome 0 1 0 0 1
Dent disease type 1 0 1 0 0 1
Developmental and epileptic encephalopathy 94 0 1 0 0 1
Developmental and epileptic encephalopathy, 1 0 1 0 0 1
Developmental and epileptic encephalopathy, 11 0 1 0 0 1
Developmental and epileptic encephalopathy, 14 0 0 1 0 1
Developmental and epileptic encephalopathy, 23 1 0 0 0 1
Developmental and epileptic encephalopathy, 28 1 0 0 0 1
Developmental and epileptic encephalopathy, 31A 0 1 0 0 1
Developmental and epileptic encephalopathy, 32 1 0 0 0 1
Developmental and epileptic encephalopathy, 42 0 1 0 0 1
Developmental and epileptic encephalopathy, 43 0 1 0 0 1
Developmental and epileptic encephalopathy, 46 0 0 1 0 1
Developmental and epileptic encephalopathy, 49 0 0 1 0 1
Developmental and epileptic encephalopathy, 5 0 1 0 0 1
Developmental and epileptic encephalopathy, 51 0 0 1 0 1
Developmental and epileptic encephalopathy, 54 0 1 0 0 1
Developmental and epileptic encephalopathy, 7 1 0 0 0 1
Developmental and epileptic encephalopathy, 8 1 0 0 0 1
Developmental and epileptic encephalopathy, 85, with or without midline brain defects 0 0 1 0 1
Developmental and epileptic encephalopathy, 87 0 0 1 0 1
Developmental delay, behavioral abnormalities, and neuropsychiatric disorders 0 1 0 0 1
DiGeorge syndrome 1 0 0 0 1
Diabetes mellitus, transient neonatal, 3 0 1 0 0 1
Diamond-Blackfan anemia 18 0 1 0 0 1
Dilated cardiomyopathy 1A 0 1 0 0 1
Dopa-responsive dystonia due to sepiapterin reductase deficiency 0 0 1 0 1
Duane retraction syndrome 2 0 0 1 0 1
Duchenne muscular dystrophy 1 0 0 0 1
Dystonia 28, childhood-onset 0 0 1 0 1
Dystonia 5 0 1 0 0 1
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive 0 1 0 0 1
Ehlers-Danlos syndrome, kyphoscoliotic type 1 0 1 0 0 1
Ehlers-Danlos syndrome, type 4 0 0 1 0 1
Emery-Dreifuss muscular dystrophy 2, autosomal dominant 1 0 0 0 1
Emery-Dreifuss muscular dystrophy 5, autosomal dominant 0 1 0 0 1
Encephalopathy due to GLUT1 deficiency 0 1 0 0 1
Epidermolysis bullosa simplex 1C, localized 0 1 0 0 1
Epidermolysis bullosa, junctional 2B, severe 0 1 0 0 1
Epidermolysis bullosa, junctional 3B, severe 1 0 0 0 1
Epilepsy with myoclonic atonic seizures 1 0 0 0 1
Episodic ataxia type 2 0 1 0 0 1
Episodic pain syndrome, familial, 2 0 0 1 0 1
Factor H deficiency 0 1 0 0 1
Factor I deficiency 1 0 0 0 1
Familial adenomatous polyposis 2 1 0 0 0 1
Familial infantile myasthenia 0 0 1 0 1
Familial pulmonary capillary hemangiomatosis 0 0 1 0 1
Familial visceral amyloidosis, Ostertag type 1 0 0 0 1
Fanconi-Bickel syndrome 1 0 0 0 1
Febrile seizures, familial, 8 0 1 0 0 1
Freeman-Sheldon syndrome 0 0 1 0 1
Frontotemporal dementia 0 1 0 0 1
GM1 gangliosidosis type 2 0 1 0 0 1
Gastric adenocarcinoma and proximal polyposis of the stomach 1 0 0 0 1
Global developmental delay with or without impaired intellectual development 0 1 0 0 1
Global developmental delay with speech and behavioral abnormalities 0 1 0 0 1
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 0 0 1 0 1
Glutaric aciduria, type 1 0 1 0 0 1
Glycine encephalopathy 2 0 1 0 0 1
Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 0 1 0 0 1
HSD10 mitochondrial disease 0 1 0 0 1
Hajdu-Cheney syndrome 0 0 1 0 1
Hao-Fountain syndrome 0 0 1 0 1
Hao-Fountain syndrome due to USP7 mutation 0 1 0 0 1
Harel-Yoon syndrome 0 0 1 0 1
Hearing loss, autosomal recessive 0 0 1 0 1
Hearing loss, autosomal recessive 111 1 0 0 0 1
Hematuria, benign familial, 1 1 0 0 0 1
Hereditary angioedema type 1 0 1 0 0 1
Hereditary spastic paraplegia 11 1 0 0 0 1
Hereditary spastic paraplegia 12 0 0 1 0 1
Hereditary spastic paraplegia 39 0 0 1 0 1
Hereditary spastic paraplegia 48 0 0 1 0 1
Hereditary spastic paraplegia 8 0 0 1 0 1
Hereditary spherocytosis type 2 0 1 0 0 1
Hernia, anterior diaphragmatic 0 0 1 0 1
Holt-Oram syndrome 0 1 0 0 1
Houge-Janssens syndrome 1 1 0 0 0 1
Hyper-IgE recurrent infection syndrome 1, autosomal dominant 0 1 0 0 1
Hyper-IgM syndrome type 2 0 0 1 0 1
Hypercholesterolemia, familial, 1 0 1 0 0 1
Hyperinsulinemic hypoglycemia, familial, 1 0 1 0 0 1
Hyperlipidemia, familial combined, LPL related 0 0 1 0 1
Hypertriglyceridemia 2 0 1 0 0 1
Hypertrophic cardiomyopathy 2 0 0 1 0 1
Hypertrophic cardiomyopathy 26 0 1 0 0 1
Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 1 0 0 0 1
Hypohidrotic X-linked ectodermal dysplasia 1 0 0 0 1
Hypokalemic periodic paralysis, type 2 1 0 0 0 1
Hypomyelinating leukodystrophy 6 0 1 0 0 1
Hypomyelinating leukodystrophy 9 0 1 0 0 1
Hypomyelination with brain stem and spinal cord involvement and leg spasticity 0 0 1 0 1
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 0 0 1 0 1
Imerslund-Grasbeck syndrome type 2 1 0 0 0 1
Immunodeficiency 14 1 0 0 0 1
Immunodeficiency 39 0 0 1 0 1
Inflammatory bowel disease 28 0 0 1 0 1
Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures 1 0 0 0 1
Intellectual developmental disorder, autosomal dominant 63, with macrocephaly 0 0 1 0 1
Intellectual developmental disorder, autosomal dominant 67 1 0 0 0 1
Intellectual developmental disorder, autosomal recessive 74 0 0 1 0 1
Intellectual disability, X-linked 21 0 1 0 0 1
Intellectual disability, X-linked 72 0 0 1 0 1
Intellectual disability, X-linked 90 0 0 1 0 1
Intellectual disability, X-linked 93 0 1 0 0 1
Intellectual disability, X-linked 99, syndromic, female-restricted 0 1 0 0 1
Intellectual disability, X-linked, syndromic, Houge type 0 1 0 0 1
Intellectual disability, autosomal dominant 14 0 1 0 0 1
Intellectual disability, autosomal dominant 24 0 0 1 0 1
Intellectual disability, autosomal dominant 33 0 1 0 0 1
Intellectual disability, autosomal dominant 39 0 1 0 0 1
Intellectual disability, autosomal dominant 43 0 1 0 0 1
Intellectual disability, autosomal dominant 50 0 1 0 0 1
Intellectual disability, autosomal dominant 53 0 1 0 0 1
Intellectual disability, autosomal recessive 1 0 0 1 0 1
Intellectual disability, autosomal recessive 13 0 0 1 0 1
Intellectual disability, autosomal recessive 51 0 1 0 0 1
Intellectual disability-epilepsy-extrapyramidal syndrome 0 1 0 0 1
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 0 1 0 0 1
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 1 0 0 0 1
Intellectual disability-strabismus syndrome 0 0 1 0 1
Interstitial lung disease 2 0 1 0 0 1
Intestinal hypomagnesemia 1 0 0 1 0 1
Joubert syndrome 37 0 0 1 0 1
Keratosis follicularis 1 0 0 0 1
Kostmann syndrome 1 0 0 0 1
LZTR1-related schwannomatosis 0 1 0 0 1
Larsen syndrome 1 0 0 0 1
Leber optic atrophy 0 1 0 0 1
Left ventricular noncompaction 10 0 0 1 0 1
Leigh syndrome 1 0 0 0 1
Lethal congenital contracture syndrome 11 1 0 0 0 1
Leukocyte adhesion deficiency 1 1 0 0 0 1
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome 1 0 0 0 1
Leukoencephalopathy, diffuse hereditary, with spheroids 1 1 0 0 0 1
Li-Fraumeni syndrome 1 0 0 1 0 1
Lissencephaly due to TUBA1A mutation 1 0 0 0 1
Lissencephaly type 1 due to doublecortin gene mutation 1 0 0 0 1
Long QT syndrome 3 0 0 1 0 1
Long QT syndrome 8 0 1 0 0 1
Lopes-Maciel-Rodan syndrome 0 0 1 0 1
Lynch syndrome 4 0 0 1 0 1
MASA syndrome 0 1 0 0 1
MEHMO syndrome 0 0 1 0 1
MHC class II deficiency 1 0 1 0 0 1
Macrocephaly, acquired, with impaired intellectual development 1 0 0 0 1
Macrocephaly-autism syndrome 1 0 0 0 1
Maleylacetoacetate isomerase deficiency 0 1 0 0 1
Maple syrup urine disease type 1A 1 0 0 0 1
Maturity-onset diabetes of the young type 2 0 1 0 0 1
Maturity-onset diabetes of the young type 3 0 1 0 0 1
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency 0 1 0 0 1
Menke-Hennekam syndrome 1 0 0 1 0 1
Metachromatic leukodystrophy 1 0 0 0 1
Microcephalic primordial dwarfism, Alazami type 0 1 0 0 1
Microcephaly 5, primary, autosomal recessive 0 1 0 0 1
Microcephaly, developmental delay, and brittle hair syndrome 0 0 1 0 1
Microphthalmia, syndromic 12 0 1 0 0 1
Mitochondrial complex III deficiency nuclear type 3 0 1 0 0 1
Mitochondrial myopathy-lactic acidosis-deafness syndrome 0 0 1 0 1
Monocytopenia with susceptibility to infections 0 1 0 0 1
Monosomy 7 myelodysplasia and leukemia syndrome 1 0 1 0 0 1
Mowat-Wilson syndrome 0 1 0 0 1
Mucocutaneous ulceration, chronic 0 1 0 0 1
Mucopolysaccharidosis type 6 0 1 0 0 1
Mucopolysaccharidosis, MPS-II 1 0 0 0 1
Mucopolysaccharidosis, MPS-III-B 0 1 0 0 1
Mullegama-Klein-Martinez syndrome 1 0 0 0 1
Multiple endocrine neoplasia, type 1 0 1 0 0 1
Muscular dystrophy, limb-girdle, autosomal dominant 4 0 1 0 0 1
Myoclonic epilepsy of Lafora 1 1 0 0 0 1
Myofibrillar myopathy 5 1 0 0 0 1
Nephronophthisis 1 1 0 0 0 1
Nephrotic syndrome, type 2 0 1 0 0 1
Neurodegeneration with brain iron accumulation 5 0 1 0 0 1
Neurodevelopmental disorder with alopecia and brain abnormalities 0 1 0 0 1
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities 0 0 1 0 1
Neurodevelopmental disorder with hypotonia and brain abnormalities 0 0 1 0 1
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities 0 1 0 0 1
Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language 1 0 0 0 1
Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities 0 1 0 0 1
Neurodevelopmental disorder with or without autism or seizures 0 1 0 0 1
Neurodevelopmental disorder with speech impairment and with or without seizures 0 1 0 0 1
Neurofibromatosis, type 2 1 0 0 0 1
Neurofibromatosis-Noonan syndrome 1 0 0 0 1
Neuronopathy, distal hereditary motor, autosomal recessive 5 0 0 1 0 1
Neuronopathy, distal hereditary motor, autosomal recessive 8 0 1 0 0 1
Neutropenia, severe congenital, 1, autosomal dominant 0 1 0 0 1
Neutrophil immunodeficiency syndrome 0 0 1 0 1
Noonan syndrome 3 1 0 0 0 1
Noonan syndrome 4 1 0 0 0 1
Noonan syndrome-like disorder with loose anagen hair 1 1 0 0 0 1
O'Donnell-Luria-Rodan syndrome 0 1 0 0 1
Odonto-onycho-dermal dysplasia 1 0 0 0 1
Okur-Chung neurodevelopmental syndrome 0 1 0 0 1
Ornithine carbamoyltransferase deficiency 0 1 0 0 1
Oroticaciduria 0 0 1 0 1
Osteogenesis imperfecta type 7 0 0 1 0 1
Osteogenesis imperfecta with normal sclerae, dominant form 0 1 0 0 1
Otospondylomegaepiphyseal dysplasia, autosomal recessive 1 0 0 0 1
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 0 1 0 0 1
Pancreatic cancer, susceptibility to, 4 1 0 0 0 1
Pancytopenia due to IKZF1 mutations 0 1 0 0 1
Papillary renal cell carcinoma type 1 0 0 1 0 1
Partial 13q deletion 1 0 0 0 1
Partial 18p monosomy with 18q trisomy 1 0 0 0 1
Pendred syndrome 1 0 0 0 1
Periodic fever-infantile enterocolitis-autoinflammatory syndrome 0 0 1 0 1
Peroxisome biogenesis disorder 1A (Zellweger) 0 0 1 0 1
Peroxisome biogenesis disorder 5A (Zellweger) 1 0 0 0 1
Peutz-Jeghers syndrome 0 0 1 0 1
Pheochromocytoma/paraganglioma syndrome 1 1 0 0 0 1
Piebaldism 0 0 1 0 1
Pleuropulmonary blastoma 0 1 0 0 1
Primary ciliary dyskinesia 25 1 0 0 0 1
Primary ciliary dyskinesia 29 1 0 0 0 1
Primary ciliary dyskinesia 32 1 0 0 0 1
Primary ciliary dyskinesia 9 0 0 1 0 1
Primary dilated cardiomyopathy 0 1 0 0 1
Progressive familial intrahepatic cholestasis type 2 0 1 0 0 1
Progressive familial intrahepatic cholestasis type 3 0 1 0 0 1
Proline dehydrogenase deficiency 0 0 1 0 1
Propionic acidemia 0 1 0 0 1
Proximal 16p11.2 microdeletion syndrome 1 0 0 0 1
Pseudohypoaldosteronism, type IB1, autosomal recessive 1 0 0 0 1
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 0 1 0 0 1
Pulmonary hypertension, primary, 1 1 0 0 0 1
Pyogenic bacterial infections due to MyD88 deficiency 1 0 0 0 1
Pyruvate dehydrogenase E1-alpha deficiency 0 1 0 0 1
Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 0 0 1 0 1
Renal carnitine transport defect 0 1 0 0 1
Renal tubular dysgenesis of genetic origin 1 0 0 0 1
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 0 1 0 0 1
SHORT syndrome 0 0 1 0 1
STAT3-related early-onset multisystem autoimmune disease 1 0 0 0 1
Seizures, benign familial infantile, 2 1 0 0 0 1
Seizures, benign familial neonatal, 1 1 0 0 0 1
Severe X-linked myotubular myopathy 0 1 0 0 1
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 0 1 0 0 1
Severe intellectual disability-progressive spastic diplegia syndrome 0 1 0 0 1
Shwachman-Diamond syndrome 1 1 0 0 0 1
Sialidosis type 2 0 0 1 0 1
Skeletal dysplasia 0 1 0 0 1
Snijders Blok-Campeau syndrome 0 0 1 0 1
Sotos syndrome 0 1 0 0 1
Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia 0 1 0 0 1
Spinocerebellar ataxia 27A 1 0 0 0 1
Spinocerebellar ataxia 47 0 1 0 0 1
Spinocerebellar ataxia 48 0 0 1 0 1
Spinocerebellar ataxia type 15/16 1 0 0 0 1
Spinocerebellar ataxia type 5 0 0 1 0 1
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 0 1 0 0 1
Spondylocostal dysostosis 1, autosomal recessive 0 1 0 0 1
Stankiewicz-Isidor syndrome 0 1 0 0 1
Stickler syndrome type 1 0 1 0 0 1
Succinate-semialdehyde dehydrogenase deficiency 0 1 0 0 1
Sucrase-isomaltase deficiency 0 1 0 0 1
Surfactant metabolism dysfunction, pulmonary, 1 0 0 1 0 1
Surfactant metabolism dysfunction, pulmonary, 4 0 1 0 0 1
Syndromic X-linked intellectual disability Claes-Jensen type 0 1 0 0 1
Syndromic X-linked intellectual disability Najm type 0 1 0 0 1
T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant 0 1 0 0 1
TCF12-related craniosynostosis 0 1 0 0 1
TNF receptor-associated periodic fever syndrome (TRAPS) 1 0 0 0 1
Telangiectasia, hereditary hemorrhagic, type 2; Hereditary hemorrhagic telangiectasia 0 1 0 0 1
Tooth agenesis, selective, 1 0 1 0 0 1
Tremor, hereditary essential, 5 0 0 1 0 1
Trichorhinophalangeal dysplasia type I 0 1 0 0 1
Tyrosinase-positive oculocutaneous albinism 0 0 1 0 1
Usher syndrome type 1C 1 0 0 0 1
Usmani-Riazuddin syndrome, autosomal recessive 1 0 0 0 1
Van der Woude syndrome 1 0 1 0 0 1
Vissers-Bodmer syndrome 1 0 0 0 1
Waardenburg syndrome type 4A 0 1 0 0 1
Warsaw breakage syndrome 0 1 0 0 1
Weiss-Kruszka syndrome 0 1 0 0 1
Williams syndrome 1 0 0 0 1
Wiskott-Aldrich syndrome 1 0 0 0 1
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia 0 1 0 0 1
X-linked ichthyosis with steryl-sulfatase deficiency 1 0 0 0 1
X-linked lymphoproliferative disease due to SH2D1A deficiency 1 0 0 0 1
X-linked lymphoproliferative disease due to XIAP deficiency 0 1 0 0 1
X-linked mixed hearing loss with perilymphatic gusher 0 1 0 0 1
ZTTK syndrome 1 0 0 0 1
alpha Thalassemia 1 0 0 0 1

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