regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1058): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00609.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0072a0001c0001t0002g0093 | 2 | 238 | 0.0084 | 1065 | c.787 others(1080): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | ||||||
ATG10_chr5_81967023_82261133 | 82140209 | C | CGCCCGGC others(1058): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0155 | 1 | 226 | 0.0044 | 1065 | c.217 others(1084): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ATG10_chr5_81967023_82261133 | 82140209 | C | CGCCCGGC others(1058): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0144 | 1 | 226 | 0.0044 | 1065 | c.217 others(1084): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ATG10_chr5_81967023_82261133 | 82140209 | C | CGCCCGGC others(1058): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 226 | 0.0044 | 1065 | c.217 others(1084): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ATG10_chr5_81967023_82261133 | 82140209 | C | CGCCCGGC others(1058): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0002 | a0002c0002 | a0002c0002t0030 | a0002c0002t0030g0084 | 1 | 226 | 0.0044 | 1065 | c.217 others(1084): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AZU1_chr19_822837_837018 | 835500 | G | GCAGCCCC others(1058): Show |
downstream_gene_variant | MODIFIER | HG02300.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0020 | 1 | 391 | 0.0026 | 1065 | c.*36 others(1076): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3483 | chr19 | TogoVar | ||||||
C10orf67_chr10_23197696_23349797 | 23331548 | A | AGGGAAGG others(1058): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02559.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0140a0001c0001t0004g0141 | 2 | 326 | 0.0061 | 1065 | c.327 others(1082): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1058): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02717.hp1 |
a0005 | a0005c0044a0005c0083 | a0005c0044t0001a0005c0083t0001 | a0005c0044t0001g0066a0005c0083t0001g0035 | 2 | 278 | 0.0072 | 1065 | c.328 others(1082): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | ||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1058): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0088 | 1 | 278 | 0.0036 | 1065 | c.328 others(1082): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | ||||||
CHTF18_chr16_783620_803074 | 795593 | T | TGCTGCCC others(1058): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0059 | 1 | 428 | 0.0023 | 1065 | c.217 others(1080): Show |
CHTF18 | ENSG00000127586.17 | transcript | ENST00000262315.14 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CRTC3_chr15_90524923_90650345 | 90647246 | T | TCAATCCT others(1058): Show |
downstream_gene_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0051 | 1 | 276 | 0.0036 | 1065 | c.*51 others(1076): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 1902 | chr15 | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90647275 | A | ACAATCCT others(1058): Show |
downstream_gene_variant | MODIFIER | HG01255.hp2 HG02735.hp1 HG03688.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0043a0001c0001t0001g0046a0003c0003t0001g0045 | 3 | 276 | 0.0109 | 1065 | c.*51 others(1076): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 1931 | chr15 | TogoVar | ||||||
GNG13_chr16_793041_805734 | 795593 | T | TGCTGCCC others(1058): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 422 | 0.0024 | 1065 | c.*31 others(1076): Show |
GNG13 | ENSG00000127588.5 | transcript | ENST00000248150.5 | protein_coding | 2447 | chr16 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10399223 | C | CCACCACC others(1058): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0277 | 1 | 314 | 0.0032 | 1065 | c.-25 others(1082): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
HPCAL1_chr2_10297904_10432604 | 10399225 | A | ACCACCGC others(1058): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 314 | 0.0032 | 1065 | c.-25 others(1082): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
HPCAL1_chr2_10297904_10432604 | 10399225 | A | ACCACCGC others(1058): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 314 | 0.0032 | 1065 | c.-25 others(1082): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
HPCAL1_chr2_10297904_10432604 | 10399423 | A | ACCACCAC others(1058): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0022 | 1 | 314 | 0.0032 | 1065 | c.-25 others(1082): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | chr2 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10399424 | T | TCATCACC others(1058): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0090 | 1 | 314 | 0.0032 | 1065 | c.-25 others(1082): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ICA1_chr7_8108184_8267167 | 8152561 | C | CACCACCA others(1058): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0212 | 1 | 274 | 0.0037 | 1065 | c.804 others(1082): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | ||||||
KIF3B_chr20_32272651_32340011 | 32322994 | A | ATATTTAT others(1058): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0195 | 1 | 242 | 0.0041 | 1065 | c.174 others(1084): Show |
KIF3B | ENSG00000101350.8 | transcript | ENST00000375712.4 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
LDLRAD3_chr11_35939062_36237136 | 36055112 | A | AGGGATAG others(1058): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0206 | 1 | 236 | 0.0042 | 1065 | c.193 others(1084): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 922708 | G | GTGAAAGT others(1058): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0007 | a0007c0046 | a0007c0046t0004 | a0007c0046t0004g0036 | 1 | 294 | 0.0034 | 1065 | c.514 others(1084): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 922708 | G | GTGAAAGT others(1058): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0008 | a0008c0036 | a0008c0036t0003 | a0008c0036t0003g0277 | 1 | 294 | 0.0034 | 1065 | c.514 others(1084): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 922708 | G | GTGAAAGT others(1058): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0279 | 1 | 294 | 0.0034 | 1065 | c.514 others(1084): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | ||||||
MAEA_chr4_1284891_1345137 | 1317117 | G | GCCCCACA others(1058): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0320 | 1 | 388 | 0.0026 | 1065 | c.456 others(1082): Show |
MAEA | ENSG00000090316.16 | transcript | ENST00000303400.9 | protein_coding | 3/8 | chr4 | TogoVar | ||||||
MAP3K15_chrX_19355059_19520508 | 19478121 | G | GGAGGGGA others(1058): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0124 | 1 | 163 | 0.0061 | 1065 | c.525 others(1082): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 3/28 | chrX | TogoVar | ||||||
PPP6R2_chr22_50338327_50450090 | 50397547 | A | AGGGGGGC others(1058): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0233 | 1 | 340 | 0.0029 | 1065 | c.227 others(1082): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PPP6R2_chr22_50338327_50450090 | 50397569 | C | CTGTCATC others(1058): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0177 | 1 | 340 | 0.0029 | 1065 | c.227 others(1082): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
RAD54L2_chr3_51533719_51673660 | 51596086 | G | GCCCAGCT others(1058): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0122 | 1 | 276 | 0.0036 | 1065 | c.139 others(1082): Show |
RAD54L2 | ENSG00000164080.14 | transcript | ENST00000684192.1 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
RGS12_chr4_3288021_3444913 | 3341671 | G | GGAGGGTG others(1058): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0010 | 1 | 312 | 0.0032 | 1065 | c.188 others(1084): Show |
RGS12 | ENSG00000159788.20 | transcript | ENST00000336727.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SLC6A3_chr5_1387794_1450440 | 1414399 | G | GGGGGGGC others(1058): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 373 | 0.0027 | 1065 | c.115 others(1082): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | ||||||
TMPRSS2_chr21_41459305_41513158 | 41475639 | A | AGTGAGGG others(1058): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01433.hp2 HG01891.hp1 |
a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0303a0001c0002t0008g0304a0001c0002t0008g0316 | 3 | 382 | 0.0079 | 1065 | c.727 others(1080): Show |
TMPRSS2 | ENSG00000184012.14 | transcript | ENST00000332149.10 | protein_coding | 8/13 | chr21 | TogoVar | ||||||
UVSSA_chr4_1342208_1393049 | 1372721 | T | TGCTACTC others(1058): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0235 | 1 | 400 | 0.0025 | 1065 | c.128 others(1084): Show |
UVSSA | ENSG00000163945.19 | transcript | ENST00000389851.10 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
VEZF1_chr17_57966552_57993254 | 57969305 | G | GCACTTTG others(1058): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG01243.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0003a0001c0002t0002g0032 | 2 | 274 | 0.0073 | 1065 | c.*51 others(1076): Show |
VEZF1 | ENSG00000136451.9 | transcript | ENST00000581208.2 | protein_coding | 2246 | chr17 | TogoVar | ||||||
ZBTB42_chr14_104796101_104809712 | 104808224 | G | GAGCACCC others(1058): Show |
downstream_gene_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0000 | 1 | 99 | 0.0101 | 1065 | c.*57 others(1076): Show |
ZBTB42 | ENSG00000179627.10 | transcript | ENST00000342537.8 | protein_coding | 3513 | chr14 | TogoVar | ||||||
AMER2_chr13_25156679_25177288 | 25159099 | T | TATATATA others(1059): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0000 | 1 | 416 | 0.0024 | 1066 | c.*10 others(1079): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2579 | chr13 | TogoVar | ||||||
AMER2_chr13_25156679_25177288 | 25159099 | T | TATATATA others(1059): Show |
downstream_gene_variant | MODIFIER | NA18522.hp1 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0000 | 1 | 416 | 0.0024 | 1066 | c.*10 others(1079): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2579 | chr13 | TogoVar | ||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1059): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 238 | 0.0042 | 1066 | c.787 others(1081): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | ||||||
ATG10_chr5_81967023_82261133 | 82140209 | C | CCGCCCGG others(1059): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0005 | a0005c0005 | a0005c0005t0010 | a0005c0005t0010g0003 | 1 | 226 | 0.0044 | 1066 | c.217 others(1085): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | chr5 | TogoVar | ||||||
C10orf67_chr10_23197696_23349797 | 23331548 | A | AGGGAAGG others(1059): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0011 | 1 | 326 | 0.0031 | 1066 | c.327 others(1083): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2539206 | G | GAGGAGGG others(1059): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0052 | 1 | 104 | 0.0096 | 1066 | c.139 others(1087): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 9/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2539206 | G | GAGGAGGG others(1059): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0033 | a0001c0033t0020 | a0001c0033t0020g0070 | 1 | 104 | 0.0096 | 1066 | c.139 others(1087): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 9/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2539665 | T | TTTCATAA others(1059): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0002 | a0002c0013 | a0002c0013t0016 | a0002c0013t0016g0022 | 1 | 104 | 0.0096 | 1066 | c.139 others(1087): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 9/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP46_chr10_132803392_132947570 | 132896030 | C | CGGTGAGA others(1059): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0028 | a0028c0027 | a0028c0027t0002 | a0028c0027t0002g0028 | 1 | 246 | 0.0041 | 1066 | c.321 others(1085): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 24/57 | chr10 | TogoVar | ||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1059): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0002 | a0002c0056 | a0002c0056t0002 | a0002c0056t0002g0218 | 1 | 278 | 0.0036 | 1066 | c.328 others(1083): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | ||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1059): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0009 | a0009c0011 | a0009c0011t0001 | a0009c0011t0001g0204 | 1 | 278 | 0.0036 | 1066 | c.328 others(1083): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | ||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1059): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(43): Show |
a0003a0006a0007others(14): Show | a0003c0003a0003c0013a0003c0015others(18): Show | a0003c0003t0001a0003c0013t0001a0003c0015t0001others(18): Show | a0003c0003t0001g0091a0003c0003t0001g0092a0003c0003t0001g0097others(43): Show | 46 | 278 | 0.1655 | 1066 | c.328 others(1083): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | ||||||
CLCN5_chrX_49917596_50104230 | 50057375 | G | GTCCTGGA others(1059): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 175 | 0.0057 | 1066 | c.164 others(1085): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CRTC3_chr15_90524923_90650345 | 90647237 | C | CCCTCCTC others(1059): Show |
downstream_gene_variant | MODIFIER | HG03516.hp2 | a0002 | a0002c0002 | a0002c0002t0018 | a0002c0002t0018g0119 | 1 | 276 | 0.0036 | 1066 | c.*50 others(1077): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 1893 | chr15 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1059): Show |
intron_variant | MODIFIER | NA18982.hp2 | a0022 | a0022c0022 | a0022c0022t0001 | a0022c0022t0001g0013 | 1 | 252 | 0.0040 | 1066 | c.118 others(1085): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar |