view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CDCP1_chr3_45077277_45151378 | 45133446 | T | TGGTGGCT others(862): Show |
intron_variant | MODIFIER | NA18522.hp2 NA19030.hp1 |
a0002 | a0002c0002a0002c0005 | a0002c0002t0001a0002c0005t0016 | a0002c0002t0001g0366 a0002c0005t0016g0251 |
2 | 253 | 0.0079 | 869 | c.82+ others(886): Show |
CDCP1 | ENSG00000163814.8 | transcript | ENST00000296129.6 | protein_coding | 1/8 | chr3 | TogoVar | |||||||
CDCP1_chr3_45077277_45151378 | 45133446 | T | TGGTGGCT others(862): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01109.hp2 HG01358.hp1 others(10): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0001c0019others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0002g0241 others(10): Show |
13 | 264 | 0.0492 | 869 | c.82+ others(886): Show |
CDCP1 | ENSG00000163814.8 | transcript | ENST00000296129.6 | protein_coding | 1/8 | chr3 | TogoVar | |||||||
CDH23_chr10_71391920_71820947 | 71688971 | T | TCAGGGGT others(862): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0004 | a0004c0037 | a0004c0037t0005 | a0004c0037t0005g0154 | 1 | 193 | 0.0052 | 869 | c.205 others(888): Show |
CDH23 | ENSG00000107736.22 | transcript | ENST00000224721.12 | protein_coding | 19/69 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CDKN2AIPNL_chr5_134397065_134416881 | 134407262 | C | CACACACA others(862): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 378 | 0.0026 | 869 | c.339 others(886): Show |
CDKN2AIPNL | ENSG00000237190.4 | transcript | ENST00000458198.3 | protein_coding | 2/2 | chr5 | TogoVar | |||||||
CFAP61_chr20_20047532_20365698 | 20320483 | A | ATATTATA others(862): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0180 | 1 | 174 | 0.0057 | 869 | c.342 others(890): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134685430 | C | CCATCCAT others(862): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0201 | 1 | 3 | 0.3333 | 869 | c.110 others(886): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134685430 | C | CCATCCAT others(862): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01109.hp2 HG02129.hp2 others(3): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0004others(2): Show | a0001c0002t0005a0001c0003t0001a0001c0004t0001others(2): Show | a0001c0002t0005g0060 a0001c0003t0001g0269 a0001c0003t0001g0270 others(3): Show |
6 | 8 | 0.7500 | 869 | c.110 others(886): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
FHIT_chr3_59742277_61256452 | 60861204 | T | TATATATG others(862): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0007 | 1 | 23 | 0.0435 | 869 | c.-11 others(890): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 3/9 | chr3 | TogoVar | |||||||
FOXP1_chr3_70949708_71588728 | 71435244 | A | AAGGAAGG others(862): Show |
intron_variant | MODIFIER | HG02723.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0042a0001c0001t0064 | a0001c0001t0042g0063 a0001c0001t0064g0088 |
2 | 82 | 0.0244 | 869 | c.-16 others(890): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 3/20 | chr3 | TogoVar | |||||||
INPP5A_chr10_132532787_132788480 | 132718900 | C | CGCCTTAG others(862): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0201 | 1 | 202 | 0.0050 | 869 | c.648 others(886): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
INS_chr11_2154779_2166209 | 2161579 | G | GACCCCTG others(862): Show |
upstream_gene_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 274 | 0.0036 | 869 | c.-43 others(878): Show |
INS | ENSG00000254647.7 | transcript | ENST00000381330.5 | protein_coding | 371 | chr11 | TogoVar | |||||||
JUND_chr19_18274694_18286622 | 18284520 | A | AAATAATA others(862): Show |
upstream_gene_variant | MODIFIER | NA18959.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0000 | 1 | 188 | 0.0053 | 869 | c.-30 others(880): Show |
JUND | ENSG00000130522.6 | transcript | ENST00000252818.5 | protein_coding | 2899 | chr19 | TogoVar | |||||||
JUND_chr19_18274694_18286622 | 18284520 | A | ATAATAAT others(862): Show |
upstream_gene_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 188 | 0.0053 | 869 | c.-30 others(880): Show |
JUND | ENSG00000130522.6 | transcript | ENST00000252818.5 | protein_coding | 2899 | chr19 | TogoVar | |||||||
JUND_chr19_18274694_18286622 | 18284563 | A | AATAAAGA others(862): Show |
upstream_gene_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 406 | 0.0025 | 869 | c.-30 others(880): Show |
JUND | ENSG00000130522.6 | transcript | ENST00000252818.5 | protein_coding | 2942 | chr19 | TogoVar | |||||||
KIF16B_chr20_16267104_16578448 | 16288419 | G | GTGATAAG others(862): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01069.hp2 HG01071.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0001t0013a0001c0002t0007 | a0001c0001t0007g0196 a0001c0001t0007g0204 a0001c0001t0013g0210 others(2): Show |
5 | 241 | 0.0207 | 869 | c.379 others(890): Show |
KIF16B | ENSG00000089177.20 | transcript | ENST00000354981.7 | protein_coding | 25/25 | chr20 | TogoVar | |||||||
KIF16B_chr20_16267104_16578448 | 16288419 | G | GTGATAAG others(862): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01433.hp2 HG03491.hp1 others(1): Show |
a0001 | a0001c0005a0001c0006 | a0001c0005t0001a0001c0006t0007 | a0001c0005t0001g0090 a0001c0005t0001g0091 a0001c0006t0007g0113 others(1): Show |
4 | 240 | 0.0167 | 869 | c.379 others(890): Show |
KIF16B | ENSG00000089177.20 | transcript | ENST00000354981.7 | protein_coding | 25/25 | chr20 | TogoVar | |||||||
KIF16B_chr20_16267104_16578448 | 16288478 | A | GGTAAACA others(862): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0047 | 1 | 150 | 0.0067 | 869 | c.379 others(890): Show |
KIF16B | ENSG00000089177.20 | transcript | ENST00000354981.7 | protein_coding | 25/25 | chr20 | TogoVar | |||||||
LDLRAD3_chr11_35939062_36237136 | 36055106 | A | ATAGAGGG others(862): Show |
intron_variant | MODIFIER | HG03831.hp1 NA18612.hp1 NA19056.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0001a0001c0002t0004 | a0001c0001t0004g0076 a0001c0002t0001g0183 a0001c0002t0004g0080 |
3 | 162 | 0.0185 | 869 | c.193 others(888): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 859063 | G | GTGTCTCG others(862): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0091 | 1 | 214 | 0.0047 | 869 | c.153 others(888): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LRRC27_chr10_132327193_132386508 | 132364368 | T | TACACCCA others(862): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0180 | 1 | 220 | 0.0045 | 869 | c.129 others(888): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LRRC7_chr1_69562922_70149364 | 69916173 | A | AATATATA others(862): Show |
intron_variant | MODIFIER | HG00738.hp2 HG02970.hp2 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0018a0001c0001t0046 | a0001c0001t0013g0084 a0001c0001t0018g0023 a0001c0001t0046g0078 |
3 | 101 | 0.0297 | 869 | c.648 others(888): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LSS_chr21_46183446_46233774 | 46184673 | A | ACCCAGTG others(862): Show |
downstream_gene_variant | MODIFIER | HG01975.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0014 | 1 | 355 | 0.0028 | 869 | c.*64 others(880): Show |
LSS | ENSG00000160285.15 | transcript | ENST00000397728.8 | protein_coding | 3772 | chr21 | TogoVar | |||||||
MCTP2_chr15_94226561_94488952 | 94348434 | C | CCTCCCCC others(862): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0150 | 1 | 6 | 0.1667 | 869 | c.100 others(888): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MOCS1_chr6_39899170_39939462 | 39926745 | G | GGGAAGGG others(862): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 213 | 0.0047 | 869 | c.250 others(884): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
OGDHL_chr10_49729641_49767323 | 49742423 | C | CACACCAC others(862): Show |
intron_variant | MODIFIER | NA19077.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0089 | 1 | 121 | 0.0083 | 869 | c.201 others(886): Show |
OGDHL | ENSG00000197444.10 | transcript | ENST00000374103.9 | protein_coding | 15/22 | chr10 | TogoVar | |||||||
OGDHL_chr10_49729641_49767323 | 49742423 | C | CACACCAC others(862): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0008 | a0008c0027 | a0008c0027t0002 | a0008c0027t0002g0113 | 1 | 121 | 0.0083 | 869 | c.201 others(886): Show |
OGDHL | ENSG00000197444.10 | transcript | ENST00000374103.9 | protein_coding | 15/22 | chr10 | TogoVar | |||||||
PPP1R14C_chr6_150138044_150255392 | 150167973 | T | TCCTTCTC others(862): Show |
intron_variant | MODIFIER | HG01891.hp1 NA18906.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0128 a0001c0001t0001g0177 a0001c0001t0002g0080 |
3 | 69 | 0.0435 | 869 | c.306 others(888): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3260742 | A | ATGATGGT others(862): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00741.hp2 HG01069.hp1 others(44): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0020others(38): Show | a0001c0001t0001g0150 a0001c0001t0001g0201 a0001c0001t0012g0129 others(44): Show |
47 | 116 | 0.4052 | 869 | c.438 others(888): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 492507 | C | CCCAGGGC others(862): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0206 | 1 | 126 | 0.0079 | 869 | c.126 others(888): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(862): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0009 | 1 | 19 | 0.0526 | 869 | c.24+ others(886): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(862): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0062 | 1 | 19 | 0.0526 | 869 | c.24+ others(886): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13934343 | C | CATATATA others(862): Show |
intron_variant | MODIFIER | NA18997.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032 | 1 | 230 | 0.0043 | 869 | c.115 others(886): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SLIT3_chr5_168656740_169306139 | 168726538 | G | GAGGGAGG others(862): Show |
intron_variant | MODIFIER | HG02559.hp2 NA19240.hp2 |
a0001 | a0001c0003 | a0001c0003t0015 | a0001c0003t0015g0007 a0001c0003t0015g0074 |
2 | 3 | 0.6667 | 869 | c.227 others(888): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 20/35 | chr5 | TogoVar | |||||||
SWAP70_chr11_9659077_9757993 | 9706026 | T | TTGGTGAT others(862): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0021 | 1 | 271 | 0.0037 | 869 | c.241 others(886): Show |
SWAP70 | ENSG00000133789.15 | transcript | ENST00000318950.11 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 46878326 | A | AGAGAGAA others(862): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0110 | 1 | 31 | 0.0323 | 869 | c.638 others(884): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TCEA3_chr1_23375909_23429748 | 23392445 | A | AATACACA others(862): Show |
intron_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0263 | 1 | 2 | 0.5000 | 869 | c.819 others(886): Show |
TCEA3 | ENSG00000204219.11 | transcript | ENST00000450454.7 | protein_coding | 8/10 | chr1 | TogoVar | |||||||
TCEA3_chr1_23375909_23429748 | 23392445 | A | AATACACA others(862): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02723.hp2 HG03098.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0196 a0001c0001t0002g0285 a0001c0001t0002g0287 others(1): Show |
4 | 5 | 0.8000 | 869 | c.819 others(886): Show |
TCEA3 | ENSG00000204219.11 | transcript | ENST00000450454.7 | protein_coding | 8/10 | chr1 | TogoVar | |||||||
TERT_chr5_1248167_1300068 | 1273788 | C | CCGACCAC others(862): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0005 | 2 | 99 | 0.0202 | 869 | c.228 others(888): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
TH_chr11_2158929_2176815 | 2161579 | G | GACCCCTG others(862): Show |
downstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0052 | 1 | 294 | 0.0034 | 869 | c.*26 others(880): Show |
TH | ENSG00000180176.15 | transcript | ENST00000352909.8 | protein_coding | 2349 | chr11 | TogoVar | |||||||
TMPRSS9_chr19_2355265_2431261 | 2377639 | C | CTCTCCCC others(862): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0027 | a0001c0027t0002 | a0001c0027t0002g0066 | 1 | 10 | 0.1000 | 869 | c.-25 others(888): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TMPRSS9_chr19_2355265_2431261 | 2418721 | T | TCCTTCCC others(862): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 86 | 0.0116 | 869 | c.215 others(886): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238870213 | C | CACACACA others(862): Show |
intron_variant | MODIFIER | NA18993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 281 | 0.0036 | 869 | c.*35 others(888): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
TXNDC16_chr14_52425596_52557505 | 52530465 | T | TAATAATA others(862): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 83 | 0.0120 | 869 | c.392 others(886): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 6/20 | chr14 | TogoVar | |||||||
TXNDC16_chr14_52425596_52557505 | 52530564 | T | TATAATAA others(862): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0210 | 1 | 99 | 0.0101 | 869 | c.392 others(886): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 6/20 | chr14 | TogoVar | |||||||
ZBTB8A_chr1_32534427_32610941 | 32581182 | T | TTATATAT others(862): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0267 | 1 | 44 | 0.0227 | 869 | c.-1- others(886): Show |
ZBTB8A | ENSG00000160062.15 | transcript | ENST00000373510.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168975252 | T | TAAATATA others(863): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0002 | a0001c0002t0027 | a0001c0002t0027g0156 | 1 | 153 | 0.0065 | 870 | c.130 others(889): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168975252 | T | TATATTTA others(863): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0003 | a0003c0017 | a0003c0017t0004 | a0003c0017t0004g0010 | 1 | 153 | 0.0065 | 870 | c.130 others(889): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ACAP3_chr1_1287391_1312930 | 1288943 | C | CCGTGTCT others(863): Show |
downstream_gene_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 274 | 0.0036 | 870 | c.*46 others(881): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 3447 | chr1 | TogoVar | |||||||
ARHGEF10_chr8_1818926_1963641 | 1833057 | G | GACAGAAG others(863): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0002 | a0002c0125 | a0002c0125t0054 | a0002c0125t0054g0306 | 1 | 317 | 0.0032 | 870 | c.-48 others(887): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ASB9_chrX_15238987_15275083 | 15267555 | T | TAACATGG others(863): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0219 | 1 | 27 | 0.0370 | 870 | c.94+ others(885): Show |
ASB9 | ENSG00000102048.16 | transcript | ENST00000380488.9 | protein_coding | 1/6 | chrX | TogoVar |