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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
IPMK_chr10_58186517_58272894 | 58217688 | C | CAAAAAAA | intron_variant | MODIFIER | HG00741.hp2 HG01070.hp2 HG01167.hp1 others(14): Show |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0003g0257 a0001c0001t0004g0279 a0001c0001t0005g0260 others(14): Show |
17 | 346 | 0.0491 | 7 | c.374 others(24): Show |
IPMK | ENSG00000151151.6 | transcript | ENST00000373935.4 | protein_coding | 3/5 | chr10 | TogoVar | |||||||
IPMK_chr10_58186517_58272894 | 58229562 | C | CAAAAAAA | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00597.hp1 others(40): Show |
a0001a0005 | a0001c0001a0005c0009 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0099 others(39): Show |
43 | 346 | 0.1243 | 7 | c.277 others(24): Show |
IPMK | ENSG00000151151.6 | transcript | ENST00000373935.4 | protein_coding | 2/5 | chr10 | TogoVar | |||||||
IPMK_chr10_58186517_58272894 | 58271041 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG01261.hp1 HG01346.hp2 HG02486.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0008 | a0001c0001t0006g0272 a0001c0001t0006g0273 a0001c0001t0008g0275 others(3): Show |
6 | 346 | 0.0173 | 7 | c.-34 others(18): Show |
IPMK | ENSG00000151151.6 | transcript | ENST00000373935.4 | protein_coding | 3148 | chr10 | TogoVar | |||||||
IPO11_chr5_62407763_62633582 | 62568574 | C | CAAAAAAA | intron_variant | MODIFIER | HG00544.hp2 HG00733.hp2 HG00738.hp1 others(29): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0005a0001c0003t0001 | a0001c0002t0001g0007 a0001c0002t0001g0178 a0001c0002t0001g0188 others(29): Show |
32 | 330 | 0.0970 | 7 | c.258 others(26): Show |
IPO11 | ENSG00000086200.17 | transcript | ENST00000325324.11 | protein_coding | 27/29 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
IPO11_chr5_62407763_62633582 | 62596268 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(131): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0013others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(5): Show | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 others(131): Show |
134 | 330 | 0.4061 | 7 | c.267 others(26): Show |
IPO11 | ENSG00000086200.17 | transcript | ENST00000325324.11 | protein_coding | 28/29 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
IPO7_chr11_9379652_9453127 | 9414619 | C | CTTTTTTT | intron_variant | MODIFIER | HG02486.hp1 HG02622.hp2 HG02895.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0008 | a0001c0001t0002g0224 a0001c0001t0004g0281 a0001c0001t0004g0282 others(3): Show |
6 | 314 | 0.0191 | 7 | c.636 others(22): Show |
IPO7 | ENSG00000205339.10 | transcript | ENST00000379719.8 | protein_coding | 5/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
IPO7_chr11_9379652_9453127 | 9419545 | T | TAAAAAAA | intron_variant | MODIFIER | HG02071.hp1 HG02165.hp2 NA18747.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 others(11): Show |
14 | 314 | 0.0446 | 7 | c.727 others(22): Show |
IPO7 | ENSG00000205339.10 | transcript | ENST00000379719.8 | protein_coding | 6/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
IPO7_chr11_9379652_9453127 | 9432989 | G | GTTTTTTT | intron_variant | MODIFIER | HG00738.hp2 HG01516.hp2 HG01517.hp2 others(6): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0004a0001c0003t0011 | a0001c0002t0004g0271 a0001c0002t0004g0272 a0001c0002t0004g0273 others(6): Show |
9 | 314 | 0.0287 | 7 | c.188 others(24): Show |
IPO7 | ENSG00000205339.10 | transcript | ENST00000379719.8 | protein_coding | 16/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
IPP_chr1_45693711_45755653 | 45709432 | C | CAAAAAAA | intron_variant | MODIFIER | HG01243.hp1 HG01891.hp2 HG01943.hp2 others(42): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0008 others(42): Show |
45 | 128 | 0.3516 | 7 | c.153 others(26): Show |
IPP | ENSG00000197429.11 | transcript | ENST00000396478.4 | protein_coding | 8/8 | chr1 | TogoVar | |||||||
IPP_chr1_45693711_45755653 | 45732361 | C | CAAAAAAA | intron_variant | MODIFIER | HG02055.hp1 HG02257.hp1 HG02258.hp1 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0002 a0001c0001t0002g0034 a0001c0001t0002g0047 others(12): Show |
15 | 128 | 0.1172 | 7 | c.725 others(24): Show |
IPP | ENSG00000197429.11 | transcript | ENST00000396478.4 | protein_coding | 3/8 | chr1 | TogoVar | |||||||
IQANK1_chr8_143729139_143795645 | 143771743 | C | CCTCGGGG | intron_variant | MODIFIER | HG02257.hp2 HG03471.hp2 NA19030.hp2 |
a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0030 a0006c0006t0001g0031 a0006c0006t0001g0060 |
3 | 349 | 0.0086 | 7 | c.307 others(20): Show |
IQANK1 | ENSG00000203499.12 | transcript | ENST00000527139.7 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
IQCA1_chr2_236319151_236512476 | 236356921 | T | TTCATATA | intron_variant | MODIFIER | HG02055.hp2 HG02615.hp2 HG02630.hp1 others(9): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0044 a0001c0001t0002g0191 a0001c0001t0004g0052 others(9): Show |
12 | 208 | 0.0577 | 7 | c.186 others(26): Show |
IQCA1 | ENSG00000132321.17 | transcript | ENST00000409907.8 | protein_coding | 15/18 | chr2 | TogoVar | |||||||
IQCA1_chr2_236319151_236512476 | 236357642 | A | AAATATAT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00639.hp2 others(111): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0001c0005others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0034 a0001c0001t0001g0043 a0001c0001t0001g0045 others(111): Show |
114 | 208 | 0.5481 | 7 | c.186 others(26): Show |
IQCA1 | ENSG00000132321.17 | transcript | ENST00000409907.8 | protein_coding | 15/18 | chr2 | TogoVar | |||||||
IQCD_chr12_113190446_113226094 | 113223435 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02559.hp2 HG02615.hp2 others(3): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004 | a0001c0001t0001a0001c0003t0001a0003c0004t0001 | a0001c0001t0001g0186 a0001c0003t0001g0017 a0001c0003t0001g0031 others(3): Show |
6 | 332 | 0.0181 | 7 | c.-25 others(18): Show |
IQCD | ENSG00000166578.10 | transcript | ENST00000416617.3 | protein_coding | 2342 | chr12 | TogoVar | |||||||
IQCE_chr7_2553979_2619728 | 2583822 | G | GGGGCGGA | intron_variant | MODIFIER | HG01192.hp1 HG02572.hp1 HG02896.hp1 others(2): Show |
a0007a0013 | a0007c0006a0013c0018 | a0007c0006t0024a0007c0006t0046a0007c0006t0086others(1): Show | a0007c0006t0024g0151 a0007c0006t0046g0111 a0007c0006t0086g0125 others(2): Show |
5 | 416 | 0.0120 | 7 | c.774 others(22): Show |
IQCE | ENSG00000106012.19 | transcript | ENST00000402050.7 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
IQCE_chr7_2553979_2619728 | 2583908 | G | GGGGCGGA | intron_variant | MODIFIER | HG01192.hp1 HG02572.hp1 HG02896.hp1 others(3): Show |
a0003a0007a0013 | a0003c0005a0007c0006a0013c0018 | a0003c0005t0088a0007c0006t0024a0007c0006t0046others(2): Show | a0003c0005t0088g0164 a0007c0006t0024g0151 a0007c0006t0046g0111 others(3): Show |
6 | 416 | 0.0144 | 7 | c.774 others(22): Show |
IQCE | ENSG00000106012.19 | transcript | ENST00000402050.7 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
IQCE_chr7_2553979_2619728 | 2588654 | G | GTTTTTTT | intron_variant | MODIFIER | HG01192.hp2 HG01243.hp1 HG02486.hp1 others(4): Show |
a0001 | a0001c0010a0001c0035 | a0001c0010t0009a0001c0010t0053a0001c0035t0009 | a0001c0010t0009g0005 a0001c0010t0009g0121 a0001c0010t0009g0122 others(4): Show |
7 | 416 | 0.0168 | 7 | c.104 others(24): Show |
IQCE | ENSG00000106012.19 | transcript | ENST00000402050.7 | protein_coding | 13/21 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
IQCG_chr3_197884077_197964991 | 197932957 | T | TTATTATA | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp1 HG00558.hp2 others(90): Show |
a0002a0004 | a0002c0002a0004c0011 | a0002c0002t0001a0002c0002t0002a0002c0002t0004others(4): Show | a0002c0002t0001g0001 a0002c0002t0001g0021 a0002c0002t0001g0022 others(89): Show |
93 | 280 | 0.3321 | 7 | c.516 others(22): Show |
IQCG | ENSG00000114473.14 | transcript | ENST00000265239.11 | protein_coding | 5/11 | chr3 | TogoVar | |||||||
IQCH_chr15_67249786_67506804 | 67253247 | A | AAACCCCG | upstream_gene_variant | MODIFIER | NA18747.hp2 NA18991.hp1 NA19086.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 |
3 | 276 | 0.0109 | 7 | c.-16 others(18): Show |
IQCH | ENSG00000103599.20 | transcript | ENST00000335894.9 | protein_coding | 1538 | chr15 | TogoVar | |||||||
IQCJ_chr3_159064319_159268747 | 159109527 | T | TAAAAAAA | intron_variant | MODIFIER | HG00621.hp1 HG00673.hp2 HG00738.hp1 others(45): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(2): Show | a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 others(44): Show |
48 | 252 | 0.1905 | 7 | c.9+4 others(22): Show |
IQCJ | ENSG00000214216.11 | transcript | ENST00000397832.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
IQCK_chr16_19713271_19863467 | 19861087 | T | TAAAAAAA | downstream_gene_variant | MODIFIER | HG00735.hp1 HG01167.hp2 HG01433.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003 | a0001c0001t0001g0003 a0001c0001t0001g0083 a0001c0001t0001g0244 others(4): Show |
7 | 244 | 0.0287 | 7 | c.*45 others(18): Show |
IQCK | ENSG00000174628.17 | transcript | ENST00000695302.1 | protein_coding | 2621 | chr16 | TogoVar | |||||||
IQCM_chr4_149346709_149820843 | 149374998 | T | TGTGTGTG | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00609.hp1 others(35): Show |
a0001a0004a0005others(2): Show | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0026 others(35): Show |
38 | 252 | 0.1508 | 7 | c.139 others(28): Show |
IQCM | ENSG00000234828.9 | transcript | ENST00000636793.2 | protein_coding | 13/13 | chr4 | TogoVar | |||||||
IQCM_chr4_149346709_149820843 | 149726140 | A | AAAGAAAG | intron_variant | MODIFIER | HG02572.hp2 HG02976.hp2 HG03225.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0101 a0001c0001t0002g0217 a0001c0001t0002g0226 others(1): Show |
4 | 252 | 0.0159 | 7 | c.385 others(24): Show |
IQCM | ENSG00000234828.9 | transcript | ENST00000636793.2 | protein_coding | 5/13 | chr4 | TogoVar | |||||||
IQCN_chr19_18252098_18279452 | 18270051 | T | TAAAAAAA | intron_variant | MODIFIER | HG01109.hp2 HG01261.hp1 HG01358.hp2 others(16): Show |
a0001a0003a0004others(2): Show | a0001c0001a0003c0003a0003c0014others(4): Show | a0001c0001t0001a0003c0003t0001a0003c0014t0001others(5): Show | a0001c0001t0001g0121 a0003c0003t0001g0035 a0003c0003t0001g0230 others(14): Show |
19 | 434 | 0.0438 | 7 | c.-10 others(24): Show |
IQCN | ENSG00000130518.18 | transcript | ENST00000392413.5 | protein_coding | 1/3 | chr19 | TogoVar | |||||||
IQCN_chr19_18252098_18279452 | 18276307 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00741.hp2 HG01515.hp1 HG01516.hp2 others(4): Show |
a0002a0019 | a0002c0002a0019c0023 | a0002c0002t0001a0002c0002t0002a0019c0023t0001 | a0002c0002t0001g0010 a0002c0002t0001g0184 a0002c0002t0001g0186 others(3): Show |
7 | 434 | 0.0161 | 7 | c.-20 others(18): Show |
IQCN | ENSG00000130518.18 | transcript | ENST00000392413.5 | protein_coding | 1856 | chr19 | TogoVar | |||||||
IQGAP1_chr15_90383242_90507239 | 90387148 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00323.hp2 HG01884.hp1 HG02922.hp2 others(13): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0006 | a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 others(12): Show |
16 | 360 | 0.0444 | 7 | c.-11 others(18): Show |
IQGAP1 | ENSG00000140575.13 | transcript | ENST00000268182.10 | protein_coding | 1093 | chr15 | TogoVar | |||||||
IQGAP1_chr15_90383242_90507239 | 90392748 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00544.hp2 others(42): Show |
a0001 | a0001c0002a0001c0007a0001c0009others(2): Show | a0001c0002t0003a0001c0002t0004a0001c0002t0011others(4): Show | a0001c0002t0003g0002 a0001c0002t0003g0107 a0001c0002t0003g0172 others(41): Show |
45 | 360 | 0.1250 | 7 | c.155 others(24): Show |
IQGAP1 | ENSG00000140575.13 | transcript | ENST00000268182.10 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
IQGAP2_chr5_76398285_76713132 | 76496725 | T | TTTCTTTC | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00558.hp1 others(13): Show |
a0001a0002a0004others(6): Show | a0001c0002a0001c0018a0002c0001others(8): Show | a0001c0002t0005a0001c0018t0001a0002c0001t0001others(12): Show | a0001c0002t0005g0027 a0001c0002t0005g0031 a0001c0018t0001g0185 others(13): Show |
16 | 222 | 0.0721 | 7 | c.146 others(26): Show |
IQGAP2 | ENSG00000145703.17 | transcript | ENST00000274364.11 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
IQGAP2_chr5_76398285_76713132 | 76501643 | C | CTTTTTTT | intron_variant | MODIFIER | HG02647.hp1 HG02818.hp1 HG02976.hp2 others(3): Show |
a0002a0003a0013 | a0002c0001a0002c0013a0003c0004others(3): Show | a0002c0001t0002a0002c0013t0001a0003c0004t0004others(3): Show | a0002c0001t0002g0115 a0002c0013t0001g0209 a0003c0004t0004g0184 others(3): Show |
6 | 222 | 0.0270 | 7 | c.146 others(26): Show |
IQGAP2 | ENSG00000145703.17 | transcript | ENST00000274364.11 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
IQGAP3_chr1_156520405_156577565 | 156525729 | C | CAAAAAAA | 3_prime_UTR_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02258.hp1 others(6): Show |
a0003a0005a0007 | a0003c0003a0005c0007a0007c0010 | a0003c0003t0010a0005c0007t0010a0007c0010t0010others(1): Show | a0003c0003t0010g0011 a0003c0003t0010g0095 a0003c0003t0010g0100 others(5): Show |
9 | 340 | 0.0265 | 7 | c.*75 others(16): Show |
IQGAP3 | ENSG00000183856.11 | transcript | ENST00000361170.7 | protein_coding | 38/38 | 756 | chr1 | TogoVar | ||||||
IQGAP3_chr1_156520405_156577565 | 156529916 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG01069.hp2 others(68): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0035a0002c0006others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(24): Show | a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0016 others(61): Show |
71 | 340 | 0.2088 | 7 | c.440 others(24): Show |
IQGAP3 | ENSG00000183856.11 | transcript | ENST00000361170.7 | protein_coding | 34/37 | chr1 | TogoVar | |||||||
IQSEC2_chrX_53227876_53326350 | 53266686 | T | TTCCAAGC | intron_variant | MODIFIER | HG00735.hp2 HG01934.hp1 HG02145.hp1 others(10): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0006others(2): Show | a0001c0001t0001g0162 a0001c0002t0001g0015 a0001c0002t0001g0149 others(10): Show |
13 | 213 | 0.0610 | 7 | c.738 others(26): Show |
IQSEC2 | ENSG00000124313.19 | transcript | ENST00000642864.1 | protein_coding | 2/14 | chrX | TogoVar | |||||||
IQSEC2_chrX_53261328_53286584 | 53266686 | T | TTCCAAGC | 3_prime_UTR_variant | MODIFIER | HG00735.hp1 HG01934.hp1 HG02145.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 others(9): Show |
15 | 299 | 0.0502 | 7 | c.*27 others(16): Show |
IQSEC2 | ENSG00000124313.19 | transcript | ENST00000639161.2 | protein_coding | 3/3 | 278 | chrX | TogoVar | ||||||
IQUB_chr7_123447193_123539595 | 123529724 | T | TAAAAAAA | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00642.hp2 others(46): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0004others(3): Show | a0001c0001t0001a0002c0002t0002a0002c0004t0001others(3): Show | a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0127 others(43): Show |
49 | 370 | 0.1324 | 7 | c.-5+ others(22): Show |
IQUB | ENSG00000164675.11 | transcript | ENST00000324698.11 | protein_coding | 1/12 | chr7 | TogoVar | |||||||
IRAG1_chr11_10568095_10698755 | 10643176 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00621.hp1 HG01243.hp1 others(19): Show |
a0001a0002a0017others(1): Show | a0001c0001a0001c0005a0002c0003others(4): Show | a0001c0001t0001a0001c0001t0017a0001c0001t0026others(11): Show | a0001c0001t0001g0118 a0001c0001t0001g0163 a0001c0001t0001g0165 others(19): Show |
22 | 278 | 0.0791 | 7 | c.225 others(24): Show |
IRAG1 | ENSG00000072952.21 | transcript | ENST00000423302.7 | protein_coding | 2/20 | chr11 | TogoVar | |||||||
IRAG2_chr12_25047706_25113335 | 25049982 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00621.hp2 HG01070.hp2 others(16): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0008a0001c0010others(5): Show | a0001c0001t0001a0001c0008t0001a0001c0010t0001others(6): Show | a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0095 others(15): Show |
19 | 344 | 0.0552 | 7 | c.-34 others(18): Show |
IRAG2 | ENSG00000118308.16 | transcript | ENST00000556887.6 | protein_coding | 2723 | chr12 | TogoVar | |||||||
IRAG2_chr12_25047706_25113335 | 25077244 | T | TATATGAA | intron_variant | MODIFIER | HG00280.hp2 HG00738.hp2 HG01069.hp1 others(33): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(6): Show | a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0253 others(31): Show |
36 | 344 | 0.1047 | 7 | c.25- others(22): Show |
IRAG2 | ENSG00000118308.16 | transcript | ENST00000556887.6 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
IRAK2_chr3_10159919_10248745 | 10240558 | C | CCCCGCCT | intron_variant | MODIFIER | HG00544.hp2 HG00642.hp1 HG01952.hp2 others(13): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0011 | a0001c0001t0001a0002c0002t0001a0007c0011t0004 | a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0043 others(13): Show |
16 | 292 | 0.0548 | 7 | c.176 others(26): Show |
IRAK2 | ENSG00000134070.5 | transcript | ENST00000256458.5 | protein_coding | 12/12 | chr3 | TogoVar | |||||||
IRAK2_chr3_10159919_10248745 | 10240558 | C | CCCGCCTT | intron_variant | MODIFIER | HG01081.hp2 HG02280.hp2 HG02451.hp1 others(2): Show |
a0001a0012a0015 | a0001c0001a0001c0014a0012c0021others(1): Show | a0001c0001t0002a0001c0014t0001a0012c0021t0002others(1): Show | a0001c0001t0002g0055 a0001c0001t0002g0272 a0001c0014t0001g0110 others(2): Show |
5 | 292 | 0.0171 | 7 | c.176 others(26): Show |
IRAK2 | ENSG00000134070.5 | transcript | ENST00000256458.5 | protein_coding | 12/12 | chr3 | TogoVar | |||||||
IRAK4_chr12_43753951_43794541 | 43775874 | C | CTTTTTTT | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01099.hp2 others(8): Show |
a0002 | a0002c0002 | a0002c0002t0007a0002c0002t0009a0002c0002t0018 | a0002c0002t0007g0008 a0002c0002t0009g0047 a0002c0002t0009g0152 others(1): Show |
11 | 354 | 0.0311 | 7 | c.717 others(24): Show |
IRAK4 | ENSG00000198001.16 | transcript | ENST00000613694.5 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
IRF2_chr4_184382729_184479550 | 184452770 | C | CAAAAAAA | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00423.hp1 others(71): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0324 a0001c0001t0002g0003 a0001c0001t0002g0028 others(69): Show |
74 | 376 | 0.1968 | 7 | c.-7+ others(24): Show |
IRF2 | ENSG00000168310.12 | transcript | ENST00000393593.8 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
IRF5_chr7_128932927_128955038 | 128943023 | A | ATTTTTTT | intron_variant | MODIFIER | HG01515.hp1 HG02109.hp2 HG03453.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0014a0002c0002 | a0001c0001t0001a0001c0001t0006a0001c0014t0001others(1): Show | a0001c0001t0001g0013 a0001c0001t0001g0154 a0001c0001t0006g0149 others(4): Show |
12 | 404 | 0.0297 | 7 | c.195 others(22): Show |
IRF5 | ENSG00000128604.21 | transcript | ENST00000357234.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
IRS1_chr2_226726312_226804820 | 226751274 | A | ATTTTTTT | intron_variant | MODIFIER | HG00280.hp2 HG00597.hp2 HG01109.hp2 others(33): Show |
a0001a0007a0014 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0054a0001c0002t0002others(9): Show | a0001c0001t0002g0185 a0001c0001t0054g0155 a0001c0002t0002g0211 others(33): Show |
36 | 278 | 0.1295 | 7 | c.*22 others(26): Show |
IRS1 | ENSG00000169047.6 | transcript | ENST00000305123.6 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
IRS2_chr13_109747695_109791583 | 109775753 | A | ACACACAC | intron_variant | MODIFIER | HG01099.hp1 HG01361.hp1 NA18941.hp1 |
a0001a0004a0007 | a0001c0004a0004c0012a0007c0015 | a0001c0004t0002a0004c0012t0031a0007c0015t0043 | a0001c0004t0002g0252 a0004c0012t0031g0247 a0007c0015t0043g0045 |
3 | 398 | 0.0075 | 7 | c.401 others(26): Show |
IRS2 | ENSG00000185950.9 | transcript | ENST00000375856.5 | protein_coding | 1/1 | chr13 | TogoVar | |||||||
IRX2_chr5_2741165_2756677 | 2748631 | C | CCGCGCAA | frameshift_variant | HIGH | NA18985.hp2 | a0013 | a0013c0015 | a0013c0015t0001 | a0013c0015t0001g0081 | 1 | 436 | 0.0023 | 7 | c.107 others(16): Show |
p.Pro others(5): Show |
IRX2 | ENSG00000170561.13 | transcript | ENST00000302057.6 | protein_coding | 3/4 | 1340/3079 | 1076/1416 | 359/471 | chr5 | TogoVar | |||
IRX3_chr16_54278304_54291787 | 54285333 | C | CGGGGGCG | frameshift_variant | HIGH | NA19001.hp2 | a0010 | a0010c0008 | a0010c0008t0001 | a0010c0008t0001g0035 | 1 | 388 | 0.0026 | 7 | c.547 others(14): Show |
p.Arg others(5): Show |
IRX3 | ENSG00000177508.12 | transcript | ENST00000329734.4 | protein_coding | 2/4 | 1284/2625 | 547/1506 | 183/501 | chr16 | TogoVar | |||
IRX6_chr16_55319203_55335756 | 55326137 | A | AAATGCGT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(348): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0005a0001c0016others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(25): Show | a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0013 others(224): Show |
351 | 448 | 0.7835 | 7 | c.46- others(20): Show |
IRX6 | ENSG00000159387.8 | transcript | ENST00000290552.8 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
ISL1_chr5_51378448_51399730 | 51390642 | C | CTTTTTTT | intron_variant | MODIFIER | HG00741.hp2 HG01106.hp2 HG01168.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0036 others(16): Show |
32 | 342 | 0.0936 | 7 | c.766 others(22): Show |
ISL1 | ENSG00000016082.15 | transcript | ENST00000230658.12 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ISL1_chr5_51378448_51399730 | 51396189 | G | GTTTGTTT | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00733.hp1 others(125): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0007 | a0001c0001t0004a0001c0002t0002a0001c0002t0003others(6): Show | a0001c0001t0004g0085 a0001c0001t0004g0086 a0001c0001t0004g0087 others(54): Show |
128 | 342 | 0.3743 | 7 | c.*25 others(18): Show |
ISL1 | ENSG00000016082.15 | transcript | ENST00000230658.12 | protein_coding | 1460 | chr5 | TogoVar | |||||||
ISOC1_chr5_129089749_129119028 | 129101192 | A | AAATATAT | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG03669.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0053 a0001c0001t0001g0091 a0001c0001t0003g0025 others(1): Show |
7 | 418 | 0.0168 | 7 | c.310 others(24): Show |
ISOC1 | ENSG00000066583.12 | transcript | ENST00000173527.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |