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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AGO3_chr1_35926105_36077500 | 36050832 | C | CGTTTT | intron_variant | MODIFIER | HG01074.hp2 HG02145.hp1 HG02145.hp2 others(5): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0009a0001c0001t0015others(3): Show | a0001c0001t0001g0109 a0001c0001t0001g0140 a0001c0001t0009g0177 others(5): Show |
8 | 250 | 0.0320 | 5 | c.227 others(24): Show |
AGO3 | ENSG00000126070.20 | transcript | ENST00000373191.9 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AGPAT3_chr21_43860223_43992592 | 43914533 | T | TTTTTG | intron_variant | MODIFIER | HG02647.hp1 HG02683.hp1 HG03041.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008a0001c0001t0018others(1): Show | a0001c0001t0003g0085 a0001c0001t0008g0040 a0001c0001t0018g0084 others(1): Show |
4 | 326 | 0.0123 | 5 | c.-49 others(24): Show |
AGPAT3 | ENSG00000160216.21 | transcript | ENST00000291572.13 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
AGPAT3_chr21_43860223_43992592 | 43978279 | G | GTTGTT | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp2 HG01243.hp2 others(49): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0003a0001c0001t0007a0001c0001t0012others(11): Show | a0001c0001t0003g0002 a0001c0001t0003g0080 a0001c0001t0003g0085 others(48): Show |
52 | 340 | 0.1529 | 5 | c.843 others(20): Show |
AGPAT3 | ENSG00000160216.21 | transcript | ENST00000291572.13 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
AGPAT4_chr6_161124967_161279061 | 161183698 | G | GGAGGA | intron_variant | MODIFIER | HG02145.hp2 HG02895.hp1 HG02896.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0012 a0001c0001t0010g0013 a0001c0001t0010g0014 others(5): Show |
8 | 259 | 0.0309 | 5 | c.179 others(24): Show |
AGPAT4 | ENSG00000026652.15 | transcript | ENST00000320285.9 | protein_coding | 2/8 | chr6 | TogoVar | |||||||
AGPAT4_chr6_161124967_161279061 | 161278923 | A | ATTTTT | upstream_gene_variant | MODIFIER | HG01978.hp2 HG03139.hp2 HG03471.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0001g0233 a0001c0001t0003g0154 a0001c0001t0006g0228 others(3): Show |
6 | 120 | 0.0500 | 5 | c.-50 others(16): Show |
AGPAT4 | ENSG00000026652.15 | transcript | ENST00000320285.9 | protein_coding | 4863 | chr6 | TogoVar | |||||||
AGPAT5_chr8_6703642_6766503 | 6729345 | C | CTTTTT | intron_variant | MODIFIER | HG01175.hp1 HG01934.hp1 HG02886.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0064 a0001c0001t0002g0036 a0001c0001t0002g0306 others(12): Show |
18 | 96 | 0.1875 | 5 | c.290 others(22): Show |
AGPAT5 | ENSG00000155189.12 | transcript | ENST00000285518.11 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
AGPAT5_chr8_6703642_6766503 | 6732177 | A | AGTATT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(304): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(52): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 others(237): Show |
307 | 402 | 0.7637 | 5 | c.406 others(20): Show |
AGPAT5 | ENSG00000155189.12 | transcript | ENST00000285518.11 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
AGPAT5_chr8_6703642_6766503 | 6762132 | T | TAAAAA | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00423.hp2 others(65): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 others(52): Show |
68 | 144 | 0.4722 | 5 | c.*47 others(16): Show |
AGPAT5 | ENSG00000155189.12 | transcript | ENST00000285518.11 | protein_coding | 630 | chr8 | TogoVar | |||||||
AGPS_chr2_177387773_177548834 | 177389754 | A | ATTTTT | upstream_gene_variant | MODIFIER | HG02258.hp1 HG02280.hp1 HG02602.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0004a0001c0002t0004a0001c0002t0048others(1): Show | a0001c0001t0004g0094 a0001c0002t0004g0002 a0001c0002t0004g0003 others(8): Show |
11 | 19 | 0.5789 | 5 | c.-30 others(16): Show |
AGPS | ENSG00000018510.18 | transcript | ENST00000264167.11 | protein_coding | 3018 | chr2 | TogoVar | |||||||
AGPS_chr2_177387773_177548834 | 177436139 | A | ATTTTT | intron_variant | MODIFIER | HG02258.hp1 HG02280.hp1 HG02602.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0004a0001c0001t0025a0001c0002t0004others(2): Show | a0001c0001t0004g0094 a0001c0001t0025g0253 a0001c0002t0004g0003 others(9): Show |
12 | 32 | 0.3750 | 5 | c.442 others(20): Show |
AGPS | ENSG00000018510.18 | transcript | ENST00000264167.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AGR3_chr7_16854412_16886983 | 16880537 | C | CTCCTT | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(52): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0022 others(37): Show |
55 | 451 | 0.1220 | 5 | c.-28 others(22): Show |
AGR3 | ENSG00000173467.9 | transcript | ENST00000310398.7 | protein_coding | 1/7 | chr7 | TogoVar | |||||||
AGTPBP1_chr9_85541539_85746954 | 85566529 | C | CAAAAA | intron_variant | MODIFIER | HG00423.hp1 HG01069.hp2 HG01167.hp2 others(28): Show |
a0001a0005 | a0001c0001a0005c0014 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0006 a0001c0001t0001g0020 a0001c0001t0001g0028 others(28): Show |
31 | 105 | 0.2952 | 5 | c.350 others(24): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 25/25 | chr9 | TogoVar | |||||||
AGTPBP1_chr9_85541539_85746954 | 85689925 | A | AAAAAT | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG02071.hp1 others(10): Show |
a0001a0004 | a0001c0001a0004c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(10): Show |
13 | 166 | 0.0783 | 5 | c.157 others(22): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 3/25 | chr9 | TogoVar | |||||||
AGTPBP1_chr9_85541539_85746954 | 85689925 | A | AAATAT | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00609.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0026 a0001c0001t0001g0042 a0001c0001t0001g0070 others(19): Show |
22 | 175 | 0.1257 | 5 | c.157 others(22): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 3/25 | chr9 | TogoVar | |||||||
AGTPBP1_chr9_85541539_85746954 | 85689925 | A | ATATAT | intron_variant | MODIFIER | HG00597.hp1 HG02615.hp2 HG02630.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0005 a0001c0001t0001g0055 a0001c0001t0001g0081 others(6): Show |
9 | 162 | 0.0556 | 5 | c.157 others(22): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 3/25 | chr9 | TogoVar | |||||||
AGTRAP_chr1_11731136_11755769 | 11737930 | T | TGTCAG | intron_variant | MODIFIER | HG01243.hp1 HG02145.hp1 HG02615.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0031 a0001c0001t0006g0045 a0001c0001t0006g0104 |
5 | 418 | 0.0120 | 5 | c.27+ others(20): Show |
AGTRAP | ENSG00000177674.16 | transcript | ENST00000314340.10 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AGT_chr1_230697523_230719122 | 230718722 | C | CTTTTT | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00621.hp2 others(19): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0003a0001c0008t0001 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0018 others(8): Show |
22 | 255 | 0.0863 | 5 | c.-46 others(16): Show |
AGT | ENSG00000135744.9 | transcript | ENST00000366667.6 | protein_coding | 4601 | chr1 | TogoVar | |||||||
AGXT2_chr5_34993102_35052949 | 35041223 | C | CAAAAA | intron_variant | MODIFIER | HG01081.hp2 HG01257.hp2 HG01258.hp2 others(6): Show |
a0002a0003a0009 | a0002c0002a0003c0006a0009c0010 | a0002c0002t0004a0003c0006t0002a0009c0010t0003 | a0002c0002t0004g0341 a0002c0002t0004g0342 a0002c0002t0004g0343 others(5): Show |
9 | 22 | 0.4091 | 5 | c.89- others(18): Show |
AGXT2 | ENSG00000113492.14 | transcript | ENST00000231420.11 | protein_coding | 1/13 | chr5 | TogoVar | |||||||
AGXT_chr2_240863824_240885500 | 240880574 | C | CTTTTT | downstream_gene_variant | MODIFIER | HG01928.hp2 HG01952.hp1 HG02056.hp2 others(18): Show |
a0001a0015 | a0001c0001a0015c0022 | a0001c0001t0004a0001c0001t0026a0001c0001t0028others(1): Show | a0001c0001t0004g0004 a0001c0001t0004g0008 a0001c0001t0004g0012 others(7): Show |
21 | 153 | 0.1373 | 5 | c.*17 others(16): Show |
AGXT | ENSG00000172482.5 | transcript | ENST00000307503.4 | protein_coding | 75 | chr2 | TogoVar | |||||||
AHCTF1_chr1_246834098_246936948 | 246834099 | T | TAAAAA | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(189): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0004a0001c0007others(27): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(40): Show | a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0041 others(189): Show |
192 | 374 | 0.5134 | 5 | c.*67 others(16): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 4998 | chr1 | TogoVar | |||||||
AHCTF1_chr1_246834098_246936948 | 246834949 | A | ATTTTT | downstream_gene_variant | MODIFIER | HG01243.hp1 HG02451.hp1 HG02630.hp2 others(3): Show |
a0001a0016 | a0001c0004a0016c0036 | a0001c0004t0002a0001c0004t0020a0016c0036t0002 | a0001c0004t0002g0143 a0001c0004t0002g0161 a0001c0004t0002g0253 others(3): Show |
6 | 91 | 0.0659 | 5 | c.*58 others(16): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 4148 | chr1 | TogoVar | |||||||
AHCTF1_chr1_246834098_246936948 | 246854962 | T | TTTTAC | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(276): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0004a0001c0007others(38): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(52): Show | a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0046 others(275): Show |
279 | 374 | 0.7460 | 5 | c.435 others(22): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 31/35 | chr1 | TogoVar | |||||||
AHCTF1_chr1_246834098_246936948 | 246857964 | C | CTTCTT | intron_variant | MODIFIER | HG00741.hp2 HG01243.hp2 HG01891.hp2 others(4): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0014a0001c0007t0001 | a0001c0001t0001g0139 a0001c0001t0014g0003 a0001c0007t0001g0270 others(4): Show |
7 | 13 | 0.5385 | 5 | c.413 others(22): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 29/35 | chr1 | TogoVar | |||||||
AHCTF1_chr1_246834098_246936948 | 246878396 | C | CAAAAA | intron_variant | MODIFIER | HG00642.hp2 HG01358.hp2 HG02004.hp1 others(9): Show |
a0001a0003a0005others(1): Show | a0001c0001a0003c0003a0005c0027others(1): Show | a0001c0001t0001a0003c0003t0001a0005c0027t0001others(1): Show | a0001c0001t0001g0174 a0001c0001t0001g0187 a0001c0001t0001g0192 others(8): Show |
12 | 98 | 0.1224 | 5 | c.266 others(24): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 21/35 | chr1 | TogoVar | |||||||
AHCYL1_chr1_109979765_110028742 | 110026029 | C | CTTTTT | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00639.hp2 HG00673.hp1 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0112 a0001c0001t0002g0005 a0001c0001t0002g0006 others(20): Show |
31 | 162 | 0.1914 | 5 | c.*43 others(16): Show |
AHCYL1 | ENSG00000168710.18 | transcript | ENST00000369799.10 | protein_coding | 2288 | chr1 | TogoVar | |||||||
AHCYL2_chr7_129220030_129435211 | 129243953 | C | CTTATT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG01070.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0140 a0001c0002t0001g0267 a0001c0002t0001g0269 others(2): Show |
5 | 286 | 0.0175 | 5 | c.363 others(24): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AHCYL2_chr7_129220030_129435211 | 129322420 | G | GTGAGC | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01123.hp2 others(23): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(7): Show | a0001c0001t0001g0115 a0001c0001t0001g0122 a0001c0001t0001g0124 others(23): Show |
26 | 290 | 0.0897 | 5 | c.364 others(24): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | chr7 | TogoVar | |||||||
AHCYL2_chr7_129220030_129435211 | 129336020 | G | GTTTCT | intron_variant | MODIFIER | HG01099.hp1 HG02559.hp2 HG02615.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0027 | a0001c0001t0007g0285 a0001c0001t0007g0286 a0001c0001t0007g0287 others(2): Show |
5 | 290 | 0.0172 | 5 | c.364 others(24): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AHCYL2_chr7_129220030_129435211 | 129369215 | T | TTTTAA | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp1 others(138): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(20): Show | a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0013 others(138): Show |
141 | 290 | 0.4862 | 5 | c.364 others(24): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AHCY_chr20_34275268_34308355 | 34305159 | C | CAAAAA | upstream_gene_variant | MODIFIER | HG00738.hp2 HG01169.hp1 HG01243.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0004 a0001c0001t0002g0021 a0001c0001t0002g0037 others(11): Show |
25 | 289 | 0.0865 | 5 | c.-18 others(16): Show |
AHCY | ENSG00000101444.13 | transcript | ENST00000217426.7 | protein_coding | 1805 | chr20 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135294324 | T | TCAAAA | intron_variant | MODIFIER | HG00140.hp2 HG00609.hp2 HG01071.hp1 others(22): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0007 a0001c0001t0001g0054 a0001c0001t0001g0079 others(22): Show |
25 | 192 | 0.1302 | 5 | c.348 others(24): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 27/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135376881 | C | CAAAAA | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp1 HG02630.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0012others(1): Show | a0001c0001t0002g0042 a0001c0001t0003g0037 a0001c0001t0003g0038 others(5): Show |
8 | 43 | 0.1860 | 5 | c.310 others(26): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135471572 | C | CAAATT | intron_variant | MODIFIER | HG00639.hp1 HG02647.hp1 HG02976.hp2 others(5): Show |
a0001 | a0001c0001a0001c0018 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 others(5): Show |
8 | 218 | 0.0367 | 5 | c.136 others(22): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 5/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135483042 | C | CCACCA | intron_variant | MODIFIER | HG01891.hp2 HG02451.hp2 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0004g0048 |
3 | 218 | 0.0138 | 5 | c.135 others(22): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 5/28 | chr6 | TogoVar | |||||||
AHNAK_chr11_62510902_62551806 | 62549902 | T | TTTTTG | upstream_gene_variant | MODIFIER | HG00609.hp1 HG00673.hp2 HG00735.hp2 others(20): Show |
a0001a0002a0008others(5): Show | a0001c0002a0001c0019a0001c0027others(9): Show | a0001c0002t0001a0001c0002t0002a0001c0019t0001others(10): Show | a0001c0002t0001g0016 a0001c0002t0001g0044 a0001c0002t0002g0032 others(12): Show |
23 | 183 | 0.1257 | 5 | c.-33 others(16): Show |
AHNAK | ENSG00000124942.14 | transcript | ENST00000378024.9 | protein_coding | 3097 | chr11 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 318112 | C | CACCCT | upstream_gene_variant | MODIFIER | HG01099.hp2 HG01891.hp1 HG02886.hp1 others(3): Show |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0001a0001c0001t0012a0001c0001t0027others(2): Show | a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0012g0154 others(3): Show |
6 | 265 | 0.0226 | 5 | c.-37 others(16): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3601 | chr5 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 341485 | T | TTCCCC | intron_variant | MODIFIER | HG00280.hp1 HG00738.hp2 HG00741.hp2 others(43): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0004others(4): Show | a0001c0001t0029a0002c0002t0001a0002c0002t0006others(20): Show | a0001c0001t0029g0012 a0001c0001t0029g0013 a0002c0002t0001g0010 others(41): Show |
46 | 266 | 0.1729 | 5 | c.-10 others(22): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 345003 | A | AGCTGT | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp2 HG02896.hp1 others(1): Show |
a0004a0006a0007 | a0004c0003a0006c0006a0007c0007 | a0004c0003t0022a0006c0006t0021a0007c0007t0035 | a0004c0003t0022g0247 a0006c0006t0021g0245 a0006c0006t0021g0246 others(1): Show |
4 | 265 | 0.0151 | 5 | c.62+ others(20): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 381506 | C | CTTTTT | intron_variant | MODIFIER | HG00621.hp2 HG01256.hp1 HG02602.hp2 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0002a0002c0002t0001a0002c0002t0006others(2): Show | a0001c0001t0002g0184 a0002c0002t0001g0204 a0002c0002t0006g0090 others(3): Show |
6 | 91 | 0.0659 | 5 | c.351 others(22): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 441497 | C | CTTTTT | downstream_gene_variant | MODIFIER | HG01891.hp1 HG01891.hp2 HG02257.hp2 others(9): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0003 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(5): Show | a0001c0001t0001g0156 a0001c0001t0001g0253 a0001c0001t0006g0262 others(9): Show |
12 | 24 | 0.5000 | 5 | c.*66 others(16): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3213 | chr5 | TogoVar | |||||||
AHSA1_chr14_77453093_77474472 | 77454934 | A | AAACTG | upstream_gene_variant | MODIFIER | HG01109.hp1 HG02451.hp2 HG02572.hp1 others(10): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0022 others(7): Show |
13 | 305 | 0.0426 | 5 | c.-32 others(16): Show |
AHSA1 | ENSG00000100591.8 | transcript | ENST00000216479.8 | protein_coding | 3158 | chr14 | TogoVar | |||||||
AIDA_chr1_222663013_222717491 | 222700971 | T | TTGGGG | intron_variant | MODIFIER | HG00735.hp1 HG01192.hp2 HG02257.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0021 others(11): Show |
20 | 171 | 0.1170 | 5 | c.180 others(22): Show |
AIDA | ENSG00000186063.13 | transcript | ENST00000340020.11 | protein_coding | 2/9 | chr1 | TogoVar | |||||||
AIG1_chr6_143055889_143346058 | 143314184 | T | TAAAAA | intron_variant | MODIFIER | HG00558.hp2 HG01074.hp1 HG01516.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0163 a0001c0001t0002g0115 a0001c0001t0002g0131 others(14): Show |
17 | 46 | 0.3696 | 5 | c.516 others(24): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AIG1_chr6_143055889_143346058 | 143345694 | A | ATTTTT | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01169.hp2 HG02109.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0005others(2): Show | a0001c0001t0001g0116 a0001c0001t0001g0172 a0001c0001t0005g0017 others(5): Show |
8 | 39 | 0.2051 | 5 | c.*60 others(16): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 4637 | chr6 | TogoVar | |||||||
AIMP1_chr4_106311550_106354456 | 106350000 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG01243.hp1 HG03041.hp1 HG03098.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 a0001c0001t0001g0037 a0001c0001t0001g0097 others(4): Show |
7 | 27 | 0.2593 | 5 | c.*23 others(16): Show |
AIMP1 | ENSG00000164022.18 | transcript | ENST00000672341.1 | protein_coding | 545 | chr4 | TogoVar | |||||||
AIMP1_chr4_106311550_106354456 | 106351113 | T | TATATG | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(307): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0011 others(216): Show |
310 | 382 | 0.8115 | 5 | c.*34 others(16): Show |
AIMP1 | ENSG00000164022.18 | transcript | ENST00000672341.1 | protein_coding | 1658 | chr4 | TogoVar | |||||||
AIPL1_chr17_6418738_6440121 | 6421853 | A | AAAAAG | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00738.hp2 others(35): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(5): Show | a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0054 others(20): Show |
38 | 308 | 0.1234 | 5 | c.*36 others(16): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 1884 | chr17 | TogoVar | |||||||
AIPL1_chr17_6418738_6440121 | 6430456 | C | CAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00438.hp1 others(71): Show |
a0001a0002a0003 | a0001c0002a0002c0003a0002c0008others(1): Show | a0001c0002t0001a0002c0003t0001a0002c0003t0003others(9): Show | a0001c0002t0001g0040 a0001c0002t0001g0140 a0001c0002t0001g0197 others(38): Show |
74 | 280 | 0.2643 | 5 | c.277 others(22): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 2/5 | chr17 | TogoVar | |||||||
AIPL1_chr17_6418738_6440121 | 6436026 | A | ATCCCC | upstream_gene_variant | MODIFIER | HG02074.hp1 HG02083.hp2 HG02135.hp1 others(14): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0004a0004c0006others(2): Show | a0001c0001t0002a0001c0004t0009a0001c0004t0024others(4): Show | a0001c0001t0002g0003 a0001c0004t0009g0016 a0001c0004t0009g0024 others(7): Show |
17 | 351 | 0.0484 | 5 | c.-92 others(14): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 906 | chr17 | TogoVar | |||||||
AIPL1_chr17_6418738_6440121 | 6436034 | C | CCCTCT | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01167.hp1 HG01255.hp1 others(20): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0002a0001c0002t0041a0001c0004t0006others(6): Show | a0001c0001t0002g0180 a0001c0002t0041g0278 a0001c0004t0006g0076 others(16): Show |
23 | 338 | 0.0680 | 5 | c.-93 others(14): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 914 | chr17 | TogoVar |