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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DPEP1_chr16_89608642_89643433 | 89634668 | C | CTCCTTTC others(218): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 250 | 0.0040 | 225 | c.105 others(242): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
DPP6_chr7_154047398_154899285 | 154062630 | T | TAGGACCC others(218): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0010 | a0001c0010t0010 | a0001c0010t0010g0009 | 1 | 38 | 0.0263 | 225 | c.243 others(242): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DPP6_chr7_154047398_154899285 | 154778649 | A | ACCACAAC others(218): Show |
intron_variant | MODIFIER | HG02486.hp2 HG03579.hp1 |
a0002 | a0002c0008a0002c0009 | a0002c0008t0012a0002c0009t0004 | a0002c0008t0012g0001 a0002c0009t0004g0004 |
2 | 38 | 0.0526 | 225 | c.113 others(244): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 10/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DPP6_chr7_154047398_154899285 | 154778649 | A | ACCACAAC others(218): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0024 | a0001c0024t0028 | a0001c0024t0028g0003 | 1 | 38 | 0.0263 | 225 | c.113 others(244): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 10/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ERBB3_chr12_56075165_56108505 | 56075791 | C | CCCCCAAC others(218): Show |
upstream_gene_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG02896.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0200 a0001c0001t0009g0201 a0001c0001t0009g0202 others(2): Show |
5 | 392 | 0.0128 | 225 | c.-45 others(236): Show |
ERBB3 | ENSG00000065361.17 | transcript | ENST00000267101.8 | protein_coding | 4373 | chr12 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 688310 | C | CCCGGCCC others(218): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01081.hp1 HG03669.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0101 a0001c0001t0001g0205 a0001c0001t0002g0246 others(3): Show |
6 | 378 | 0.0159 | 225 | c.304 others(242): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 688310 | C | CCCGGCCC others(218): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01168.hp2 HG01169.hp2 |
a0001a0007 | a0001c0001a0007c0016 | a0001c0001t0002a0007c0016t0002 | a0001c0001t0002g0011 a0007c0016t0002g0326 |
3 | 378 | 0.0079 | 225 | c.304 others(242): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 688310 | C | CCCGGCCC others(218): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 378 | 0.0027 | 225 | c.304 others(242): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 688310 | C | CCCGGCCC others(218): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0260 | 1 | 378 | 0.0027 | 225 | c.304 others(242): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 688310 | C | CCCGGCCC others(218): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01891.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0208 a0001c0001t0001g0209 others(2): Show |
6 | 378 | 0.0159 | 225 | c.304 others(242): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 688311 | C | CCGGCCCT others(218): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0315 | 1 | 378 | 0.0027 | 225 | c.304 others(242): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 688311 | C | CCGGCCCT others(218): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0316 | 1 | 378 | 0.0027 | 225 | c.304 others(242): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | |||||||
EVA1C_chr21_32407706_32520387 | 32477756 | G | GCCCTCAC others(218): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0153 | 1 | 346 | 0.0029 | 225 | c.634 others(242): Show |
EVA1C | ENSG00000166979.13 | transcript | ENST00000300255.7 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
EXOC6_chr10_92843520_93064490 | 92975823 | C | CCCGTCCG others(218): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(95): Show |
a0001a0002a0005 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0052 a0001c0001t0001g0173 a0001c0001t0001g0174 others(95): Show |
98 | 288 | 0.3403 | 225 | c.195 others(244): Show |
EXOC6 | ENSG00000138190.17 | transcript | ENST00000260762.10 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
EXOC6_chr10_92843520_93064490 | 92975823 | C | CCCGTCCG others(218): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02647.hp1 HG02818.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(2): Show |
5 | 288 | 0.0174 | 225 | c.195 others(244): Show |
EXOC6 | ENSG00000138190.17 | transcript | ENST00000260762.10 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
EXOC6_chr10_92843520_93064490 | 92975823 | C | CCCGTCCG others(218): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00639.hp2 others(89): Show |
a0001a0003a0006others(1): Show | a0001c0001a0001c0004a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0008 a0001c0001t0001g0081 a0001c0001t0001g0082 others(89): Show |
92 | 288 | 0.3194 | 225 | c.195 others(244): Show |
EXOC6 | ENSG00000138190.17 | transcript | ENST00000260762.10 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
EXOC6_chr10_92843520_93064490 | 92975823 | C | CCCGTCCG others(218): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02886.hp2 NA19030.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0079 a0001c0001t0007g0080 a0001c0001t0007g0143 others(1): Show |
4 | 288 | 0.0139 | 225 | c.195 others(244): Show |
EXOC6 | ENSG00000138190.17 | transcript | ENST00000260762.10 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
EXOC6_chr10_92843520_93064490 | 92975823 | C | CCCGTCCG others(218): Show |
intron_variant | MODIFIER | HG02300.hp2 HG02451.hp2 HG02615.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0287 a0001c0001t0006g0278 a0001c0001t0006g0279 others(1): Show |
4 | 288 | 0.0139 | 225 | c.195 others(244): Show |
EXOC6 | ENSG00000138190.17 | transcript | ENST00000260762.10 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
EXOC6_chr10_92843520_93064490 | 92975823 | C | CCCGTCCG others(218): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02922.hp2 HG03130.hp1 others(5): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0002a0004c0005t0002 | a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 others(5): Show |
8 | 288 | 0.0278 | 225 | c.195 others(244): Show |
EXOC6 | ENSG00000138190.17 | transcript | ENST00000260762.10 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
EXOC6_chr10_92843520_93064490 | 92975854 | G | GGCCGCCC others(218): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02257.hp1 HG02970.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 a0001c0001t0001g0153 a0001c0001t0001g0154 others(1): Show |
4 | 288 | 0.0139 | 225 | c.195 others(244): Show |
EXOC6 | ENSG00000138190.17 | transcript | ENST00000260762.10 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
FBXO34_chr14_55266421_55358611 | 55331753 | A | ACACCACC others(218): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0320 | 1 | 334 | 0.0030 | 225 | c.-10 others(244): Show |
FBXO34 | ENSG00000178974.11 | transcript | ENST00000313833.5 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
FER1L5_chr2_96637764_96709883 | 96659350 | C | CTTTCTTT others(218): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0009 | a0009c0025 | a0009c0025t0001 | a0009c0025t0001g0154 | 1 | 226 | 0.0044 | 225 | c.748 others(240): Show |
FER1L5 | ENSG00000249715.13 | transcript | ENST00000624922.6 | protein_coding | 9/52 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
FOXP1_chr3_70949708_71588728 | 71327315 | G | GAAGCAGG others(218): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02257.hp2 HG02572.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0036others(2): Show | a0001c0001t0001g0038 a0001c0001t0007g0065 a0001c0001t0036g0094 others(2): Show |
5 | 96 | 0.0521 | 225 | c.-72 others(244): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 4/20 | chr3 | TogoVar | |||||||
GABRG3_chr15_26966181_27546984 | 27307261 | T | TTATATGT others(218): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0003 | a0001c0003t0022 | a0001c0003t0022g0058 | 1 | 92 | 0.0109 | 225 | c.271 others(244): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GALNT9_chr12_132191372_132334589 | 132241042 | A | AGGGGCCC others(218): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0021 | 1 | 183 | 0.0055 | 225 | c.107 others(244): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132241282 | A | ACCCATTA others(218): Show |
intron_variant | MODIFIER | HG00673.hp1 HG03834.hp2 |
a0001 | a0001c0002a0001c0040 | a0001c0002t0001a0001c0040t0007 | a0001c0002t0001g0130 a0001c0040t0007g0002 |
2 | 183 | 0.0109 | 225 | c.107 others(244): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132241477 | G | GCCACACA others(218): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01099.hp2 HG01192.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0029 a0001c0001t0001g0090 others(1): Show |
4 | 183 | 0.0219 | 225 | c.107 others(244): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132242077 | C | CAGGGCCG others(218): Show |
intron_variant | MODIFIER | HG03017.hp1 HG03942.hp2 |
a0001 | a0001c0006a0001c0041 | a0001c0006t0001a0001c0041t0015 | a0001c0006t0001g0098 a0001c0041t0015g0178 |
2 | 183 | 0.0109 | 225 | c.107 others(244): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132242249 | C | CCCCTTCC others(218): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0113 | 1 | 183 | 0.0055 | 225 | c.107 others(244): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132242377 | G | GCCACACC others(218): Show |
intron_variant | MODIFIER | NA18953.hp2 NA19012.hp2 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0026 a0001c0005t0001g0037 |
2 | 183 | 0.0109 | 225 | c.107 others(244): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132242804 | T | TTCCCTAT others(218): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 183 | 0.0055 | 225 | c.107 others(244): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132242924 | A | ACCCTTCC others(218): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0025 | 1 | 183 | 0.0055 | 225 | c.107 others(244): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GALR1_chr18_77244848_77282900 | 77259022 | T | TCATGGTG others(218): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02717.hp1 |
a0001 | a0001c0004 | a0001c0004t0052 | a0001c0004t0052g0323 a0001c0004t0052g0324 |
2 | 366 | 0.0055 | 225 | c.732 others(242): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 2/2 | chr18 | TogoVar | |||||||
GALR1_chr18_77244848_77282900 | 77259022 | T | TCATGGTG others(218): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0104 | a0001c0001t0104g0069 | 1 | 366 | 0.0027 | 225 | c.732 others(242): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 2/2 | chr18 | TogoVar | |||||||
GPC5_chr13_91393621_92872237 | 92347920 | T | TAATATAT others(218): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0012 a0001c0001t0002g0037 |
2 | 42 | 0.0476 | 225 | c.156 others(248): Show |
GPC5 | ENSG00000179399.16 | transcript | ENST00000377067.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
GPR157_chr1_9095305_9134102 | 9116292 | A | ATTATATT others(218): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0109 | 1 | 404 | 0.0025 | 225 | c.384 others(242): Show |
GPR157 | ENSG00000180758.12 | transcript | ENST00000377411.5 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
GPR157_chr1_9095305_9134102 | 9116292 | A | ATTATATT others(218): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(92): Show |
a0001a0002a0004 | a0001c0001a0001c0010a0001c0011others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(28): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0012 others(82): Show |
95 | 404 | 0.2352 | 225 | c.384 others(242): Show |
GPR157 | ENSG00000180758.12 | transcript | ENST00000377411.5 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
GPR157_chr1_9095305_9134102 | 9116292 | A | ATTATATT others(218): Show |
intron_variant | MODIFIER | HG03098.hp1 HG03579.hp2 |
a0001 | a0001c0009 | a0001c0009t0015a0001c0009t0023 | a0001c0009t0015g0271 a0001c0009t0023g0316 |
2 | 404 | 0.0050 | 225 | c.384 others(242): Show |
GPR157 | ENSG00000180758.12 | transcript | ENST00000377411.5 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
GRIN1_chr9_137134154_137173756 | 137144812 | G | GGGGTCCC others(218): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 298 | 0.0034 | 225 | c.394 others(240): Show |
GRIN1 | ENSG00000176884.17 | transcript | ENST00000371561.8 | protein_coding | 2/19 | chr9 | TogoVar | |||||||
GRIN1_chr9_137134154_137173756 | 137145387 | G | GGGGTCCC others(218): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0150 | 1 | 298 | 0.0034 | 225 | c.394 others(240): Show |
GRIN1 | ENSG00000176884.17 | transcript | ENST00000371561.8 | protein_coding | 2/19 | chr9 | TogoVar | |||||||
HCN1_chr5_45249948_45701380 | 45376251 | A | AGAATATA others(218): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0075 | 1 | 226 | 0.0044 | 225 | c.123 others(246): Show |
HCN1 | ENSG00000164588.8 | transcript | ENST00000303230.6 | protein_coding | 4/7 | chr5 | TogoVar | |||||||
HIVEP3_chr1_41501365_41923922 | 41544699 | T | TCACCACC others(218): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0003 | a0003c0007 | a0003c0007t0006 | a0003c0007t0006g0050 | 1 | 134 | 0.0075 | 225 | c.520 others(246): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 5/8 | chr1 | TogoVar | |||||||
HLA-DPA1_chr6_33059569_33078649 | 33059731 | T | TGGGGCGG others(218): Show |
downstream_gene_variant | MODIFIER | HG01943.hp2 HG02258.hp1 HG03516.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0003 | a0001c0001t0002g0001 a0002c0002t0003g0010 a0002c0002t0003g0020 |
4 | 105 | 0.0381 | 225 | c.*56 others(236): Show |
HLA-DPA1 | ENSG00000231389.8 | transcript | ENST00000692443.1 | protein_coding | 4837 | chr6 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322373 | T | TATATACA others(218): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0170 | 1 | 323 | 0.0031 | 225 | c.-26 others(236): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2596 | chr21 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322373 | T | TATATATA others(218): Show |
upstream_gene_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0177 | 1 | 323 | 0.0031 | 225 | c.-26 others(236): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2596 | chr21 | TogoVar | |||||||
INPP5E_chr9_136423619_136444845 | 136431307 | G | GCCCCCCC others(218): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0047 | 1 | 382 | 0.0026 | 225 | c.155 others(242): Show |
INPP5E | ENSG00000148384.14 | transcript | ENST00000371712.4 | protein_coding | 7/9 | chr9 | TogoVar | |||||||
INPP5F_chr10_119721050_119834147 | 119722424 | G | GGCCAGCC others(218): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG01069.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0302 a0001c0003t0003g0303 a0001c0003t0003g0304 others(1): Show |
4 | 328 | 0.0122 | 225 | c.-38 others(236): Show |
INPP5F | ENSG00000198825.15 | transcript | ENST00000650623.2 | protein_coding | 3625 | chr10 | TogoVar | |||||||
INS_chr11_2154779_2166209 | 2161948 | C | CACCCCTG others(218): Show |
upstream_gene_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 376 | 0.0027 | 225 | c.-79 others(234): Show |
INS | ENSG00000254647.7 | transcript | ENST00000381330.5 | protein_coding | 740 | chr11 | TogoVar | |||||||
IPO11_chr5_62407763_62633582 | 62598379 | G | GTTTTCTT others(218): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 330 | 0.0030 | 225 | c.267 others(244): Show |
IPO11 | ENSG00000086200.17 | transcript | ENST00000325324.11 | protein_coding | 28/29 | chr5 | TogoVar | |||||||
IQSEC3_chr12_61767_183455 | 103880 | G | GGGGCTCT others(218): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0002 | a0002c0001 | a0002c0001t0008 | a0002c0001t0008g0026 | 1 | 282 | 0.0036 | 225 | c.623 others(242): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |