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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RAB40B_chr17_82649973_82703698 | 82672045 | C | CCACCCCT others(1217): Show |
intron_variant | MODIFIER | HG02080.hp2 NA18947.hp1 NA18954.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031a0001c0001t0001g0200a0001c0001t0001g0201others(2): Show | 5 | 338 | 0.0148 | 1224 | c.143 others(1241): Show |
RAB40B | ENSG00000141542.11 | transcript | ENST00000571995.6 | protein_coding | 1/5 | chr17 | TogoVar | ||||||
RABL6_chr9_136802948_136846187 | 136803145 | G | GCCGGGGG others(1217): Show |
upstream_gene_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0079 | 1 | 330 | 0.0030 | 1224 | c.-50 others(1235): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 4802 | chr9 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80743737 | C | CTACTAGC others(1217): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0091 | a0001c0091t0016 | a0001c0091t0016g0166 | 1 | 196 | 0.0051 | 1224 | c.655 others(1243): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RPTOR_chr17_80539838_80971368 | 80744061 | C | CTACTAGC others(1217): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0020 | a0001c0020t0064 | a0001c0020t0064g0190 | 1 | 196 | 0.0051 | 1224 | c.655 others(1241): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RPTOR_chr17_80539838_80971368 | 80744079 | T | TTACTAGC others(1217): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0003 | a0001c0003t0013 | a0001c0003t0013g0043 | 1 | 196 | 0.0051 | 1224 | c.655 others(1241): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RTEL1_chr20_63653312_63701245 | 63693732 | T | TCCACCAC others(1217): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0008 | a0008c0013 | a0008c0013t0002 | a0008c0013t0002g0015 | 1 | 60 | 0.0167 | 1224 | c.299 others(1241): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SDK1_chr7_3296252_4274000 | 3977201 | C | CCACGCAG others(1217): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0019 | a0019c0051 | a0019c0051t0062 | a0019c0051t0062g0019 | 1 | 116 | 0.0086 | 1224 | c.199 others(1243): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 13/44 | chr7 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31431776 | A | AATAGGGT others(1217): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0095 | 1 | 376 | 0.0027 | 1224 | c.101 others(1243): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SERINC2_chr1_31408213_31439678 | 31432003 | T | TAGGGTGG others(1217): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0342 | 1 | 376 | 0.0027 | 1224 | c.101 others(1241): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SERINC2_chr1_31408213_31439678 | 31432093 | C | CAGGGTGG others(1217): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0104 | 1 | 376 | 0.0027 | 1224 | c.101 others(1241): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SPATA3_chr2_230991121_231013040 | 231005545 | C | CATCACCA others(1217): Show |
intron_variant | MODIFIER | NA18988.hp2 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0089 | 1 | 436 | 0.0023 | 1224 | c.*11 others(1243): Show |
SPATA3 | ENSG00000173699.17 | transcript | ENST00000433428.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
STK32B_chr4_5046480_5505989 | 5357721 | T | TGGCAGTG others(1217): Show |
intron_variant | MODIFIER | HG02559.hp1 HG03471.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0021a0002c0002t0001 | a0001c0001t0021g0134a0002c0002t0001g0145 | 2 | 170 | 0.0118 | 1224 | c.434 others(1243): Show |
STK32B | ENSG00000152953.13 | transcript | ENST00000282908.10 | protein_coding | 4/11 | chr4 | TogoVar | ||||||
STK32B_chr4_5046480_5505989 | 5357721 | T | TGGCAGTG others(1217): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00741.hp1 others(36): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(13): Show | a0001c0001t0001g0031a0001c0001t0001g0055a0001c0001t0001g0065others(36): Show | 39 | 170 | 0.2294 | 1224 | c.434 others(1243): Show |
STK32B | ENSG00000152953.13 | transcript | ENST00000282908.10 | protein_coding | 4/11 | chr4 | TogoVar | ||||||
STK32B_chr4_5046480_5505989 | 5357721 | T | TGGCAGTG others(1217): Show |
intron_variant | MODIFIER | NA18988.hp2 NA18990.hp2 NA19009.hp2 |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0010 | a0001c0001t0003a0002c0002t0001a0004c0010t0004 | a0001c0001t0003g0100a0002c0002t0001g0026a0004c0010t0004g0118 | 3 | 170 | 0.0177 | 1224 | c.434 others(1243): Show |
STK32B | ENSG00000152953.13 | transcript | ENST00000282908.10 | protein_coding | 4/11 | chr4 | TogoVar | ||||||
TBCD_chr17_82747065_82950914 | 82905749 | T | TCGTCCGT others(1217): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0002 | a0002c0012 | a0002c0012t0008 | a0002c0012t0008g0171 | 1 | 318 | 0.0031 | 1224 | c.180 others(1241): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 19/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
TBCD_chr17_82747065_82950914 | 82905749 | T | TCGTCCGT others(1217): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0002 | a0002c0012 | a0002c0012t0008 | a0002c0012t0008g0170 | 1 | 318 | 0.0031 | 1224 | c.180 others(1241): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 19/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
TCERG1L_chr10_131087391_131316721 | 131176845 | C | CATACAAA others(1217): Show |
intron_variant | MODIFIER | HG01358.hp1 HG01978.hp2 HG01993.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(1): Show | a0001c0001t0001g0025a0001c0001t0003g0086a0001c0001t0006g0022others(1): Show | 4 | 324 | 0.0124 | 1224 | c.857 others(1241): Show |
TCERG1L | ENSG00000176769.9 | transcript | ENST00000368642.4 | protein_coding | 4/11 | chr10 | TogoVar | ||||||
TRIO_chr5_14138342_14515204 | 14347035 | T | TGGACCTG others(1217): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0046 | 1 | 198 | 0.0051 | 1224 | c.204 others(1245): Show |
TRIO | ENSG00000038382.23 | transcript | ENST00000344204.9 | protein_coding | 11/56 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
USP12_chr13_27061156_27176811 | 27063935 | A | AGGAGAGG others(1217): Show |
downstream_gene_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0120 | 1 | 167 | 0.0060 | 1224 | c.*53 others(1235): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2220 | chr13 | TogoVar | ||||||
ANKLE2_chr12_132720503_132766832 | 132759133 | C | CGGGGCAC others(1218): Show |
intron_variant | MODIFIER | NA18984.hp2 NA18990.hp1 NA19082.hp2 |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0168a0004c0004t0001g0287a0004c0004t0001g0288 | 3 | 350 | 0.0086 | 1225 | c.181 others(1242): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 1/12 | chr12 | TogoVar | ||||||
ARHGAP19_chr10_97217179_97297637 | 97251500 | A | AAGGAAGG others(1218): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0148 | 1 | 242 | 0.0041 | 1225 | c.927 others(1242): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | ||||||
ARHGAP19_chr10_97217179_97297637 | 97251500 | A | AAGGGGAA others(1218): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0087 | 1 | 242 | 0.0041 | 1225 | c.927 others(1242): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | ||||||
ARHGAP19_chr10_97217179_97297637 | 97251500 | A | AAGGGGAA others(1218): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 242 | 0.0041 | 1225 | c.927 others(1242): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | ||||||
BDH1_chr3_197504783_197560968 | 197517944 | T | TCAGTCAC others(1218): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02622.hp2 HG02886.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0046a0001c0002t0047a0001c0002t0048others(1): Show | a0001c0002t0046g0012a0001c0002t0047g0010a0001c0002t0048g0011others(1): Show | 4 | 319 | 0.0125 | 1225 | c.410 others(1242): Show |
BDH1 | ENSG00000161267.12 | transcript | ENST00000392379.6 | protein_coding | 6/7 | chr3 | TogoVar | ||||||
BDH1_chr3_197504783_197560968 | 197517944 | T | TCAGTCAC others(1218): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0002 | a0001c0002t0051 | a0001c0002t0051g0016 | 1 | 319 | 0.0031 | 1225 | c.410 others(1242): Show |
BDH1 | ENSG00000161267.12 | transcript | ENST00000392379.6 | protein_coding | 6/7 | chr3 | TogoVar | ||||||
BOK_chr2_241553745_241579131 | 241570689 | G | GTGGGGGT others(1218): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0152 | 1 | 434 | 0.0023 | 1225 | c.513 others(1240): Show |
BOK | ENSG00000176720.6 | transcript | ENST00000318407.5 | protein_coding | 4/4 | chr2 | TogoVar | ||||||
BRF1_chr14_105204286_105306001 | 105229841 | T | TGGGGGCG others(1218): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 72 | 0.0139 | 1225 | c.695 others(1240): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 6/17 | chr14 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2539200 | T | TGACTTAA others(1218): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0069 | 1 | 104 | 0.0096 | 1225 | c.139 others(1246): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 9/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CENPM_chr22_41933737_41952152 | 41939840 | A | AAAAGAAG others(1218): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 258 | 0.0039 | 1225 | c.403 others(1240): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
CYLC1_chrX_83856146_83891698 | 83878183 | G | GTATATAA others(1218): Show |
intron_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 208 | 0.0048 | 1225 | c.192 others(1244): Show |
CYLC1 | ENSG00000183035.13 | transcript | ENST00000329312.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DGKB_chr7_14140049_14907751 | 14471356 | A | AATATATG others(1218): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 148 | 0.0068 | 1225 | c.183 others(1244): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 21/25 | chr7 | TogoVar | ||||||
DGKB_chr7_14140049_14907751 | 14471356 | A | AATATATG others(1218): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0142 | 1 | 148 | 0.0068 | 1225 | c.183 others(1244): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 21/25 | chr7 | TogoVar | ||||||
LRRC7_chr1_69562922_70149364 | 69916099 | T | TTATATAT others(1218): Show |
intron_variant | MODIFIER | HG02572.hp1 HG03195.hp2 |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0076a0002c0006t0045 | a0001c0001t0076g0053a0002c0006t0045g0025 | 2 | 108 | 0.0185 | 1225 | c.648 others(1244): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
LRRC7_chr1_69562922_70149364 | 69916109 | T | TATATATA others(1218): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0108 | 1 | 108 | 0.0093 | 1225 | c.648 others(1244): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
LRRC7_chr1_69562922_70149364 | 69916109 | T | TATATATA others(1218): Show |
intron_variant | MODIFIER | HG02735.hp1 NA19000.hp2 |
a0001 | a0001c0001 | a0001c0001t0047a0001c0001t0067 | a0001c0001t0047g0021a0001c0001t0067g0075 | 2 | 108 | 0.0185 | 1225 | c.648 others(1244): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
LRRC7_chr1_69562922_70149364 | 69916109 | T | TATATATA others(1218): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0011 | 1 | 108 | 0.0093 | 1225 | c.648 others(1244): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
LRRC7_chr1_69562922_70149364 | 69916109 | T | TATATATA others(1218): Show |
intron_variant | MODIFIER | NA18959.hp2 NA19004.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0022a0001c0002t0061 | a0001c0001t0022g0088a0001c0002t0061g0018 | 2 | 108 | 0.0185 | 1225 | c.648 others(1244): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
LRRC7_chr1_69562922_70149364 | 69916142 | T | TATATATT others(1218): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0006 | a0006c0016 | a0006c0016t0065 | a0006c0016t0065g0052 | 1 | 108 | 0.0093 | 1225 | c.648 others(1244): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
OLFM1_chr9_135082668_135126180 | 135096118 | C | CTCCTTCT others(1218): Show |
intron_variant | MODIFIER | HG02622.hp1 NA18995.hp2 NA19070.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0285a0001c0001t0001g0286a0001c0001t0004g0287 | 3 | 360 | 0.0083 | 1225 | c.456 others(1240): Show |
OLFM1 | ENSG00000130558.20 | transcript | ENST00000371793.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
OLFM1_chr9_135082668_135126180 | 135096119 | T | TCCTTCTT others(1218): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02559.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0014 | a0001c0001t0004g0005a0001c0001t0004g0017a0001c0001t0004g0296others(2): Show | 8 | 360 | 0.0222 | 1225 | c.456 others(1240): Show |
OLFM1 | ENSG00000130558.20 | transcript | ENST00000371793.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
OLFM1_chr9_135082668_135126180 | 135096119 | T | TCCTTCTT others(1218): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0298 | 1 | 360 | 0.0028 | 1225 | c.456 others(1240): Show |
OLFM1 | ENSG00000130558.20 | transcript | ENST00000371793.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PARP10_chr8_143972158_143991460 | 143981429 | G | GTGGTGAT others(1218): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0059 | 1 | 380 | 0.0026 | 1225 | c.255 others(1244): Show |
PARP10 | ENSG00000178685.14 | transcript | ENST00000313028.12 | protein_coding | 9/10 | chr8 | TogoVar | ||||||
PDE1C_chr7_31746179_32075407 | 31886826 | T | TTTCAGAA others(1218): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0027 | 1 | 262 | 0.0038 | 1225 | c.129 others(1242): Show |
PDE1C | ENSG00000154678.18 | transcript | ENST00000396191.6 | protein_coding | 2/17 | chr7 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2124101 | C | CTGTAGTT others(1218): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0035 | 1 | 286 | 0.0035 | 1225 | c.335 others(1244): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | chr1 | TogoVar | ||||||
RGN_chrX_47073443_47098313 | 47089406 | T | TTAATGTT others(1218): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 304 | 0.0033 | 1225 | c.347 others(1240): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 4/7 | chrX | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157311934 | A | ACCTAGCC others(1218): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 344 | 0.0029 | 1225 | c.327 others(1242): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131917167 | C | CGGAGGCT others(1218): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0266 | 1 | 344 | 0.0029 | 1225 | c.218 others(1242): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ZBTB34_chr9_126855639_126890878 | 126876191 | C | CCCCTTCC others(1218): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0083 | 1 | 246 | 0.0041 | 1225 | c.-10 others(1242): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ABCB11_chr2_168915781_169036324 | 168975252 | T | TAAATATA others(1219): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 306 | 0.0033 | 1226 | c.130 others(1245): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
ARHGAP19_chr10_97217179_97297637 | 97251500 | A | AAGGGGAA others(1219): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0082 | 1 | 242 | 0.0041 | 1226 | c.927 others(1243): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar |