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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FSTL5_chr4_161378897_162169000 | 161516561 | CATATAGT others(77): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00621.hp2 HG01069.hp1 others(29): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0037 others(29): Show |
32 | 142 | 0.2254 | -84 | c.131 others(103): Show |
FSTL5 | ENSG00000168843.14 | transcript | ENST00000306100.10 | protein_coding | 10/15 | chr4 | TogoVar | |||||||
GABRG3_chr15_26966181_27546984 | 27307295 | GTTTATAT others(77): Show |
G | intron_variant | MODIFIER | HG01099.hp1 HG01891.hp1 HG02717.hp2 |
a0001 | a0001c0001a0001c0012a0001c0016 | a0001c0001t0028a0001c0012t0003a0001c0016t0001 | a0001c0001t0028g0054 a0001c0012t0003g0068 a0001c0016t0001g0074 |
3 | 92 | 0.0326 | -84 | c.271 others(103): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GATA5_chr20_62458497_62480995 | 62477137 | CTTTTCTT others(77): Show |
C | upstream_gene_variant | MODIFIER | HG01109.hp2 NA20129.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0272 a0001c0003t0001g0273 |
2 | 382 | 0.0052 | -84 | c.-13 others(95): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 1143 | chr20 | TogoVar | |||||||
GATA5_chr20_62458497_62480995 | 62477138 | TTTTCTTT others(77): Show |
T | upstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0218 | 1 | 382 | 0.0026 | -84 | c.-13 others(95): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 1144 | chr20 | TogoVar | |||||||
GATA5_chr20_62458497_62480995 | 62477165 | TCTCGGAG others(77): Show |
T | upstream_gene_variant | MODIFIER | HG02572.hp1 | a0003 | a0003c0010 | a0003c0010t0001 | a0003c0010t0001g0051 | 1 | 382 | 0.0026 | -84 | c.-13 others(95): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 1171 | chr20 | TogoVar | |||||||
GATD1_chr11_762222_782487 | 772175 | TCGGGAGC others(77): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(306): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0005a0001c0001t0006a0001c0001t0010others(52): Show | a0001c0001t0005g0014 a0001c0001t0005g0015 a0001c0001t0005g0021 others(107): Show |
309 | 430 | 0.7186 | -84 | c.450 others(99): Show |
GATD1 | ENSG00000177225.17 | transcript | ENST00000319863.13 | protein_coding | 5/7 | chr11 | TogoVar | |||||||
GATD1_chr11_762222_782487 | 772235 | CTGCCTCG others(77): Show |
C | intron_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 430 | 0.0023 | -84 | c.450 others(99): Show |
GATD1 | ENSG00000177225.17 | transcript | ENST00000319863.13 | protein_coding | 5/7 | chr11 | TogoVar | |||||||
GATD1_chr11_762222_782487 | 779920 | GCGCCTCT others(77): Show |
G | upstream_gene_variant | MODIFIER | HG01928.hp2 HG01934.hp2 HG01952.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0012others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0110 a0001c0001t0005g0014 others(3): Show |
16 | 430 | 0.0372 | -84 | c.-25 others(95): Show |
GATD1 | ENSG00000177225.17 | transcript | ENST00000319863.13 | protein_coding | 2434 | chr11 | TogoVar | |||||||
GATD1_chr11_762222_782487 | 779939 | AGGTGGGA others(77): Show |
A | upstream_gene_variant | MODIFIER | HG00642.hp1 NA18522.hp1 NA18983.hp1 |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0058a0001c0002t0002a0001c0004t0005 | a0001c0001t0058g0102 a0001c0002t0002g0002 a0001c0004t0005g0013 |
3 | 430 | 0.0070 | -84 | c.-25 others(95): Show |
GATD1 | ENSG00000177225.17 | transcript | ENST00000319863.13 | protein_coding | 2453 | chr11 | TogoVar | |||||||
GDF2_chr10_47317454_47332588 | 47329188 | AGTGTGTG others(77): Show |
A | downstream_gene_variant | MODIFIER | HG01070.hp2 HG01074.hp2 |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0005c0005t0001 | a0001c0001t0001g0001 a0005c0005t0001g0026 |
2 | 424 | 0.0047 | -84 | c.*34 others(95): Show |
GDF2 | ENSG00000263761.3 | transcript | ENST00000581492.3 | protein_coding | 1601 | chr10 | TogoVar | |||||||
GEN1_chr2_17749138_17793946 | 17778255 | CACATATG others(77): Show |
C | intron_variant | MODIFIER | HG01261.hp1 HG01891.hp2 HG02145.hp1 others(4): Show |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0007 a0003c0003t0003g0046 a0003c0003t0003g0060 others(2): Show |
7 | 318 | 0.0220 | -84 | c.126 others(101): Show |
GEN1 | ENSG00000178295.15 | transcript | ENST00000381254.7 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GEN1_chr2_17749138_17793946 | 17778264 | GTGTACAT others(77): Show |
G | intron_variant | MODIFIER | HG00140.hp1 | a0003 | a0003c0019 | a0003c0019t0003 | a0003c0019t0003g0068 | 1 | 318 | 0.0031 | -84 | c.126 others(101): Show |
GEN1 | ENSG00000178295.15 | transcript | ENST00000381254.7 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GFPT2_chr5_180295698_180358336 | 180296871 | ACACACAC others(77): Show |
A | downstream_gene_variant | MODIFIER | HG00438.hp2 HG01109.hp2 HG01255.hp2 others(27): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0005others(3): Show | a0001c0001t0006a0001c0004t0001a0001c0004t0002others(11): Show | a0001c0001t0006g0374 a0001c0004t0001g0004 a0001c0004t0001g0060 others(26): Show |
30 | 412 | 0.0728 | -84 | c.*46 others(95): Show |
GFPT2 | ENSG00000131459.13 | transcript | ENST00000253778.13 | protein_coding | 3826 | chr5 | TogoVar | |||||||
GGT1_chr22_24598193_24633996 | 24605586 | ATAATATT others(77): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00609.hp2 others(13): Show |
a0001 | a0001c0001a0001c0021 | a0001c0001t0001a0001c0021t0001 | a0001c0001t0001g0065 a0001c0001t0001g0086 a0001c0001t0001g0087 others(13): Show |
16 | 426 | 0.0376 | -84 | c.-42 others(103): Show |
GGT1 | ENSG00000100031.19 | transcript | ENST00000400382.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
GGT1_chr22_24598193_24633996 | 24605614 | ATAATATT others(77): Show |
A | intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 426 | 0.0024 | -84 | c.-42 others(103): Show |
GGT1 | ENSG00000100031.19 | transcript | ENST00000400382.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
GHR_chr5_42418439_42726878 | 42564101 | AGTGTGAG others(77): Show |
A | intron_variant | MODIFIER | HG02486.hp2 HG02559.hp1 HG02572.hp2 others(7): Show |
a0001a0002a0003 | a0001c0001a0001c0009a0002c0002others(1): Show | a0001c0001t0002a0001c0009t0001a0001c0009t0006others(2): Show | a0001c0001t0002g0106 a0001c0009t0001g0112 a0001c0009t0006g0081 others(7): Show |
10 | 210 | 0.0476 | -84 | c.-11 others(101): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GHR_chr5_42418439_42726878 | 42564241 | AGTGTGAG others(77): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00609.hp1 others(13): Show |
a0001a0002a0003others(1): Show | a0001c0004a0002c0002a0003c0003others(1): Show | a0001c0004t0011a0001c0004t0012a0001c0004t0016others(6): Show | a0001c0004t0011g0001 a0001c0004t0011g0002 a0001c0004t0012g0007 others(13): Show |
16 | 210 | 0.0762 | -84 | c.-11 others(101): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GHR_chr5_42418439_42726878 | 42564269 | AGTGTGAG others(77): Show |
A | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0031 | 1 | 210 | 0.0048 | -84 | c.-11 others(101): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GLT8D2_chr12_103983987_104055187 | 104021887 | AGAAGAAG others(77): Show |
A | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 416 | 0.0024 | -84 | c.-16 others(101): Show |
GLT8D2 | ENSG00000120820.13 | transcript | ENST00000360814.9 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
GOLGA6L10_chr15_82334993_82354475 | 82344941 | ATAGCCTC others(77): Show |
A | conservative_inframe_deletion | MODERATE | HG00140.hp2 HG00423.hp1 HG00609.hp2 others(51): Show |
a0001a0026a0057 | a0001c0001a0001c0045a0026c0051others(1): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0016others(7): Show | a0001c0001t0003g0002 a0001c0001t0003g0008 a0001c0001t0003g0009 others(18): Show |
54 | 301 | 0.1794 | -84 | c.835 others(91): Show |
p.Arg others(13): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 1018/4452 | 835/1569 | 279/522 | chr15 | TogoVar | |||
GOLGA6L10_chr15_82334993_82354475 | 82345150 | CACAGCCT others(77): Show |
C | disruptive_inframe_deletion | MODERATE | NA18522.hp1 | a0041 | a0041c0044 | a0041c0044t0005 | a0041c0044t0005g0106 | 1 | 301 | 0.0033 | -84 | c.626 others(91): Show |
p.His others(19): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 809/4452 | 626/1569 | 209/522 | chr15 | TogoVar | |||
GP1BB_chr22_19718539_19729771 | 19727618 | GCGCTGTG others(77): Show |
G | downstream_gene_variant | MODIFIER | HG02976.hp2 HG03471.hp1 NA19074.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 3 | 410 | 0.0073 | -84 | c.*31 others(95): Show |
GP1BB | ENSG00000203618.6 | transcript | ENST00000366425.4 | protein_coding | 2848 | chr22 | TogoVar | |||||||
GPC6_chr13_93221807_94413020 | 93231314 | CATATATA others(77): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG01433.hp2 HG01975.hp2 others(12): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0008a0001c0001t0012a0001c0001t0019others(11): Show | a0001c0001t0008g0060 a0001c0001t0012g0002 a0001c0001t0012g0003 others(12): Show |
15 | 76 | 0.1974 | -84 | c.160 others(101): Show |
GPC6 | ENSG00000183098.12 | transcript | ENST00000377047.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
GPR146_chr7_1039546_1064261 | 1041274 | ACCTGGGC others(77): Show |
A | upstream_gene_variant | MODIFIER | HG00733.hp1 HG00738.hp2 HG01256.hp1 others(32): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0012others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(5): Show | a0001c0001t0001g0200 a0001c0001t0001g0207 a0001c0001t0001g0216 others(26): Show |
35 | 434 | 0.0807 | -84 | c.-34 others(95): Show |
GPR146 | ENSG00000164849.10 | transcript | ENST00000444847.2 | protein_coding | 3271 | chr7 | TogoVar | |||||||
GZMA_chr5_55097646_55115252 | 55106266 | TAAAATAA others(77): Show |
T | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 390 | 0.0026 | -84 | c.215 others(99): Show |
GZMA | ENSG00000145649.8 | transcript | ENST00000274306.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
HACL1_chr3_15555699_15606569 | 15592530 | ATGTATAC others(77): Show |
A | intron_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0403 | 1 | 428 | 0.0023 | -84 | c.228 others(99): Show |
HACL1 | ENSG00000131373.15 | transcript | ENST00000321169.10 | protein_coding | 3/16 | chr3 | TogoVar | |||||||
HACL1_chr3_15555699_15606569 | 15592941 | CATGTGTG others(77): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00733.hp2 HG00738.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0020 others(17): Show |
22 | 428 | 0.0514 | -84 | c.228 others(101): Show |
HACL1 | ENSG00000131373.15 | transcript | ENST00000321169.10 | protein_coding | 3/16 | chr3 | TogoVar | |||||||
HADHB_chr2_26239939_26295465 | 26275190 | ATTTCTTA others(77): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG02056.hp1 NA18964.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0015 a0002c0002t0002g0189 a0002c0002t0002g0190 |
4 | 290 | 0.0138 | -84 | c.354 others(101): Show |
HADHB | ENSG00000138029.14 | transcript | ENST00000317799.10 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HDAC4_chr2_239043168_239406020 | 239176273 | TCCCTCCC others(77): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00438.hp2 others(62): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0002 a0001c0001t0001g0049 a0001c0001t0001g0107 others(62): Show |
65 | 242 | 0.2686 | -84 | c.490 others(98): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 5/26 | chr2 | TogoVar | |||||||
HECTD4_chr12_112155195_112387431 | 112323961 | TCTTTCTT others(77): Show |
T | intron_variant | MODIFIER | HG00597.hp2 HG01884.hp2 HG02896.hp1 others(4): Show |
a0001a0011a0012 | a0001c0001a0011c0035a0012c0022 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(3): Show | a0001c0001t0001g0121 a0001c0001t0004g0067 a0001c0001t0004g0069 others(4): Show |
7 | 270 | 0.0259 | -84 | c.178 others(101): Show |
HECTD4 | ENSG00000173064.14 | transcript | ENST00000682272.1 | protein_coding | 1/75 | chr12 | TogoVar | |||||||
HECTD4_chr12_112155195_112387431 | 112323969 | CCTTCCTT others(77): Show |
C | intron_variant | MODIFIER | HG01099.hp2 HG01243.hp2 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0216 |
3 | 270 | 0.0111 | -84 | c.178 others(101): Show |
HECTD4 | ENSG00000173064.14 | transcript | ENST00000682272.1 | protein_coding | 1/75 | chr12 | TogoVar | |||||||
HERPUD2_chr7_35627659_35700135 | 35682250 | CGTGTGTG others(77): Show |
C | intron_variant | MODIFIER | HG02735.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0383 | 1 | 392 | 0.0026 | -84 | c.148 others(101): Show |
HERPUD2 | ENSG00000122557.11 | transcript | ENST00000311350.8 | protein_coding | 2/8 | chr7 | TogoVar | |||||||
HHAT_chr1_210323902_210681290 | 210466084 | GAATGAAT others(77): Show |
G | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 |
a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0015 a0001c0002t0011g0016 |
2 | 268 | 0.0075 | -84 | c.100 others(103): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HIP1_chr7_75528298_75743941 | 75663966 | ATATATAC others(77): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00639.hp1 HG00642.hp2 others(2): Show |
a0001a0008 | a0001c0001a0001c0025a0008c0009 | a0001c0001t0001a0001c0001t0003a0001c0025t0014others(1): Show | a0001c0001t0001g0198 a0001c0001t0001g0218 a0001c0001t0003g0238 others(2): Show |
5 | 254 | 0.0197 | -84 | c.121 others(103): Show |
HIP1 | ENSG00000127946.17 | transcript | ENST00000336926.11 | protein_coding | 1/30 | chr7 | TogoVar | |||||||
HIVEP3_chr1_41501365_41923922 | 41635541 | TGTATGTA others(77): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(78): Show |
a0001a0002a0003others(22): Show | a0001c0001a0001c0003a0001c0004others(30): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0078others(61): Show | a0001c0001t0002g0011 a0001c0001t0005g0035 a0001c0001t0005g0055 others(78): Show |
81 | 134 | 0.6045 | -84 | c.-72 others(103): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 2/8 | chr1 | TogoVar | |||||||
HMCN2_chr9_130260760_130439123 | 130277805 | CCACCACC others(77): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG01516.hp1 HG01517.hp1 |
a0004a0040a0042 | a0004c0174a0040c0187a0042c0186 | a0004c0174t0002a0040c0187t0002a0042c0186t0002 | a0004c0174t0002g0189 a0040c0187t0002g0191 a0042c0186t0002g0190 |
3 | 258 | 0.0116 | -84 | c.260 others(101): Show |
HMCN2 | ENSG00000148357.18 | transcript | ENST00000683500.2 | protein_coding | 1/97 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
HMCN2_chr9_130260760_130439123 | 130429686 | GTACGGGG others(77): Show |
G | intron_variant | MODIFIER | HG00741.hp1 HG01175.hp2 HG01516.hp1 others(13): Show |
a0001a0003a0031others(7): Show | a0001c0058a0001c0070a0001c0081others(12): Show | a0001c0058t0003a0001c0070t0003a0001c0081t0001others(12): Show | a0001c0058t0003g0121 a0001c0070t0003g0082 a0001c0081t0001g0112 others(13): Show |
16 | 258 | 0.0620 | -84 | c.143 others(102): Show |
HMCN2 | ENSG00000148357.18 | transcript | ENST00000683500.2 | protein_coding | 94/97 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
HMOX1_chr22_35376096_35399207 | 35389319 | CTTCTTTC others(77): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG03490.hp2 NA19000.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 a0001c0001t0001g0054 a0001c0001t0001g0056 others(1): Show |
4 | 384 | 0.0104 | -84 | c.637 others(99): Show |
HMOX1 | ENSG00000100292.18 | transcript | ENST00000216117.9 | protein_coding | 3/4 | chr22 | TogoVar | |||||||
HNRNPA3_chr2_177207794_177228959 | 177224951 | ATTTCAGT others(77): Show |
A | downstream_gene_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 1 | 332 | 0.0030 | -84 | c.*55 others(95): Show |
HNRNPA3 | ENSG00000170144.22 | transcript | ENST00000392524.7 | protein_coding | 993 | chr2 | TogoVar | |||||||
HRAS_chr11_527242_540576 | 530895 | GAGTGTGG others(77): Show |
G | downstream_gene_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 397 | 0.0025 | -84 | c.*15 others(95): Show |
HRAS | ENSG00000174775.18 | transcript | ENST00000311189.8 | protein_coding | 1346 | chr11 | TogoVar | |||||||
HRH3_chr20_62209960_62225278 | 62213436 | GGGGGAGG others(77): Show |
G | downstream_gene_variant | MODIFIER | HG01515.hp2 NA19074.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0034 a0001c0002t0001g0011 |
2 | 368 | 0.0054 | -84 | c.*24 others(95): Show |
HRH3 | ENSG00000101180.17 | transcript | ENST00000340177.10 | protein_coding | 1523 | chr20 | TogoVar | |||||||
HSD3B2_chr1_119410150_119428034 | 119421381 | ATATATAT others(77): Show |
A | intron_variant | MODIFIER | HG04115.hp1 HG04199.hp2 HG04204.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0028 a0001c0001t0002g0057 |
4 | 442 | 0.0091 | -84 | c.308 others(99): Show |
HSD3B2 | ENSG00000203859.10 | transcript | ENST00000369416.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HTT_chr4_3069681_3248957 | 3094533 | TGGGCGGG others(77): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG02622.hp2 HG03579.hp2 |
a0010a0020 | a0010c0039a0010c0104a0020c0118 | a0010c0039t0016a0010c0104t0029a0020c0118t0016 | a0010c0039t0016g0008 a0010c0104t0029g0006 a0020c0118t0016g0005 |
3 | 294 | 0.0102 | -84 | c.348 others(101): Show |
HTT | ENSG00000197386.14 | transcript | ENST00000355072.11 | protein_coding | 2/66 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HTT_chr4_3069681_3248957 | 3094649 | GGCGGGTG others(77): Show |
G | intron_variant | MODIFIER | HG01243.hp2 | a0011 | a0011c0013 | a0011c0013t0003 | a0011c0013t0003g0015 | 1 | 294 | 0.0034 | -84 | c.348 others(101): Show |
HTT | ENSG00000197386.14 | transcript | ENST00000355072.11 | protein_coding | 2/66 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
IGSF21_chr1_18102798_18383483 | 18273399 | CCTTTCCT others(77): Show |
C | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0123 | 1 | 248 | 0.0040 | -84 | c.184 others(103): Show |
IGSF21 | ENSG00000117154.12 | transcript | ENST00000251296.4 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
IL1RL2_chr2_102182023_102245002 | 102195577 | CTTTCTTT others(77): Show |
C | intron_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 | 1 | 374 | 0.0027 | -84 | c.489 others(101): Show |
IL1RL2 | ENSG00000115598.10 | transcript | ENST00000264257.7 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ILRUN_chr6_34582288_34701767 | 34683415 | TATACATA others(77): Show |
T | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0313 | 1 | 316 | 0.0032 | -84 | c.158 others(103): Show |
ILRUN | ENSG00000196821.10 | transcript | ENST00000374023.8 | protein_coding | 1/4 | chr6 | TogoVar | |||||||
ING5_chr2_241697039_241734478 | 241714812 | TCTCAAAC others(77): Show |
T | intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0252 | 1 | 394 | 0.0025 | -84 | c.482 others(101): Show |
ING5 | ENSG00000168395.16 | transcript | ENST00000313552.11 | protein_coding | 5/7 | chr2 | TogoVar | |||||||
INPP4B_chr4_142018160_142851301 | 142565963 | CCAACGTA others(77): Show |
C | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0034 | 1 | 90 | 0.0111 | -84 | c.-19 others(107): Show |
INPP4B | ENSG00000109452.13 | transcript | ENST00000262992.9 | protein_coding | 2/25 | chr4 | TogoVar | |||||||
INPP4B_chr4_142018160_142851301 | 142566009 | ATTCATTC others(77): Show |
A | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0060 | 1 | 90 | 0.0111 | -84 | c.-19 others(107): Show |
INPP4B | ENSG00000109452.13 | transcript | ENST00000262992.9 | protein_coding | 2/25 | chr4 | TogoVar |