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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ALMS1_chr2_73380836_73614916 | 73568995 | CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(48): Show |
a0002a0004a0009others(9): Show | a0002c0004a0002c0011a0002c0041others(15): Show | a0002c0004t0001a0002c0011t0001a0002c0041t0001others(15): Show | a0002c0004t0001g0005a0002c0004t0001g0035a0002c0004t0001g0036others(48): Show | 51 | 248 | 0.2057 | -7 | c.103 others(28): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALOX15B_chr17_8034059_8054134 | 8050878 | AAAGAGCT | A | downstream_gene_variant | MODIFIER | HG01109.hp2 HG02129.hp1 HG02145.hp1 others(36): Show |
a0003a0016a0020 | a0003c0004a0003c0028a0016c0050others(1): Show | a0003c0004t0001a0003c0004t0002a0003c0004t0005others(3): Show | a0003c0004t0001g0061a0003c0004t0001g0076a0003c0004t0001g0150others(34): Show | 39 | 470 | 0.0830 | -7 | c.*23 others(18): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 1745 | chr17 | TogoVar | ||||||
ALOX5_chr10_45369216_45451117 | 45391003 | CCCTCTCT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(202): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(19): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0012others(180): Show | 205 | 345 | 0.5942 | -7 | c.350 others(24): Show |
ALOX5 | ENSG00000012779.12 | transcript | ENST00000374391.7 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ALOXE3_chr17_8090900_8123514 | 8098234 | GTTTTTTT | G | intron_variant | MODIFIER | HG02109.hp1 HG02809.hp1 HG02818.hp2 others(10): Show |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0001a0001c0002t0003a0001c0002t0012others(3): Show | a0001c0002t0001g0263a0001c0002t0001g0334a0001c0002t0001g0336others(10): Show | 13 | 422 | 0.0308 | -7 | c.195 others(26): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 15/15 | chr17 | TogoVar | ||||||
ALOXE3_chr17_8090900_8123514 | 8107945 | GAAAGAAA | G | intron_variant | MODIFIER | HG02083.hp1 NA18993.hp1 NA19064.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0062a0001c0001t0002g0213a0001c0001t0002g0310 | 3 | 422 | 0.0071 | -7 | c.168 others(24): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | ||||||
ALOXE3_chr17_8090900_8123514 | 8107958 | AAAGGAAG | A | intron_variant | MODIFIER | HG00423.hp1 HG01123.hp1 HG01175.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0057a0001c0001t0002g0062a0001c0001t0002g0160others(19): Show | 22 | 422 | 0.0521 | -7 | c.168 others(24): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | ||||||
ALOXE3_chr17_8090900_8123514 | 8107991 | AAAGGAAG | A | intron_variant | MODIFIER | HG01069.hp1 HG01074.hp1 HG01099.hp2 others(16): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0002t0001others(5): Show | a0001c0001t0002g0023a0001c0001t0002g0247a0001c0001t0002g0275others(16): Show | 19 | 422 | 0.0450 | -7 | c.168 others(24): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58495030 | CTGCCCCA | C | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00438.hp2 others(74): Show |
a0001a0002a0004others(22): Show | a0001c0001a0002c0002a0002c0014others(33): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(51): Show | a0001c0001t0001g0179a0001c0001t0002g0071a0002c0002t0001g0147others(74): Show | 77 | 320 | 0.2406 | -7 | c.629 others(26): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 12/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58502172 | ACACACAC | A | intron_variant | MODIFIER | HG02300.hp2 NA19077.hp2 NA19080.hp2 |
a0003a0009a0043 | a0003c0012a0009c0008a0043c0070 | a0003c0012t0001a0009c0008t0002a0043c0070t0002 | a0003c0012t0001g0195a0009c0008t0002g0026a0043c0070t0002g0039 | 3 | 320 | 0.0094 | -7 | c.624 others(26): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 11/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58514784 | CTTAAATA | C | intron_variant | MODIFIER | HG02572.hp1 HG03098.hp1 HG03130.hp1 others(4): Show |
a0017a0024a0027others(1): Show | a0017c0017a0017c0052a0024c0025others(3): Show | a0017c0017t0012a0017c0017t0023a0017c0052t0013others(4): Show | a0017c0017t0012g0096a0017c0017t0023g0139a0017c0052t0013g0115others(4): Show | 7 | 320 | 0.0219 | -7 | c.602 others(24): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 10/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58613710 | ATAATAAT | A | intron_variant | MODIFIER | HG00738.hp2 HG01884.hp2 HG02145.hp2 others(16): Show |
a0002a0004a0006others(10): Show | a0002c0002a0004c0004a0006c0024others(11): Show | a0002c0002t0004a0004c0004t0003a0006c0024t0005others(13): Show | a0002c0002t0004g0280a0004c0004t0003g0253a0006c0024t0005g0279others(16): Show | 19 | 320 | 0.0594 | -7 | c.-20 others(24): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 1/12 | chr18 | TogoVar | ||||||
ALPL_chr1_21504423_21583410 | 21554923 | TTTCTTTC | T | intron_variant | MODIFIER | HG00733.hp1 HG00741.hp1 HG01069.hp1 others(24): Show |
a0001a0003 | a0001c0001a0001c0008a0001c0012others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0002g0178a0001c0001t0002g0179a0001c0001t0002g0183others(22): Show | 27 | 370 | 0.0730 | -7 | c.61+ others(20): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ALPL_chr1_21504423_21583410 | 21576246 | GGATGGAT | G | intron_variant | MODIFIER | HG00140.hp2 HG01081.hp2 HG01192.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0009a0002c0002t0005a0002c0002t0016 | a0001c0001t0009g0059a0001c0001t0009g0139a0001c0001t0009g0140others(3): Show | 6 | 370 | 0.0162 | -7 | c.119 others(24): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AMBRA1_chr11_46391414_46599023 | 46516423 | CTTTTTTT | C | intron_variant | MODIFIER | HG01243.hp1 HG02451.hp1 HG02559.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0025a0001c0001t0001g0061a0001c0001t0001g0062others(12): Show | 15 | 160 | 0.0938 | -7 | c.207 others(26): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 7/17 | chr11 | TogoVar | ||||||
AMER1_chrX_64180117_64210708 | 64189512 | GTGTATAT | G | 3_prime_UTR_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0090 | a0001c0001t0090g0093 | 1 | 243 | 0.0041 | -7 | c.*36 others(16): Show |
AMER1 | ENSG00000184675.11 | transcript | ENST00000374869.8 | protein_coding | 2/2 | 360 | chrX | TogoVar | |||||
AMIGO1_chr1_109499178_109514727 | 109511256 | AAAGAAAG | A | upstream_gene_variant | MODIFIER | HG02165.hp1 HG03669.hp1 NA18940.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0001a0001c0001t0002g0002a0001c0001t0006g0006others(1): Show | 13 | 400 | 0.0325 | -7 | c.-19 others(18): Show |
AMIGO1 | ENSG00000181754.7 | transcript | ENST00000369864.5 | protein_coding | 1530 | chr1 | TogoVar | ||||||
AMMECR1_chrX_110189186_110323085 | 110307864 | CTTTTTTT | C | intron_variant | MODIFIER | HG01106.hp1 HG02109.hp2 HG02145.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0129a0001c0001t0002g0130a0001c0001t0002g0131others(1): Show | 4 | 155 | 0.0258 | -7 | c.473 others(24): Show |
AMMECR1 | ENSG00000101935.13 | transcript | ENST00000262844.10 | protein_coding | 1/5 | chrX | TogoVar | ||||||
AMN1_chr12_31666142_31734021 | 31699395 | CAAAAAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00597.hp2 HG00642.hp2 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0023others(20): Show | 32 | 432 | 0.0741 | -7 | c.317 others(24): Show |
AMN1 | ENSG00000151743.11 | transcript | ENST00000281471.11 | protein_coding | 3/6 | chr12 | TogoVar | ||||||
AMOTL1_chr11_94763356_94881748 | 94786566 | CTTCTTTT | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00558.hp1 others(234): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0005others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(72): Show | a0001c0001t0001g0001a0001c0001t0001g0016a0001c0001t0001g0017others(224): Show | 237 | 246 | 0.9634 | -7 | c.50- others(22): Show |
AMOTL1 | ENSG00000166025.18 | transcript | ENST00000433060.3 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AMPD3_chr11_10450264_10512579 | 10482687 | ATATATAT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(266): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(43): Show | a0001c0001t0001g0012a0001c0001t0001g0024a0001c0001t0001g0027others(246): Show | 269 | 390 | 0.6897 | -7 | c.589 others(22): Show |
AMPD3 | ENSG00000133805.16 | transcript | ENST00000396553.7 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AMPH_chr7_38378704_38636373 | 38399110 | CACTTTAG | C | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00597.hp2 others(23): Show |
a0002a0006 | a0002c0004a0002c0008a0006c0014 | a0002c0004t0003a0002c0004t0005a0002c0008t0002others(2): Show | a0002c0004t0003g0188a0002c0004t0005g0029a0002c0004t0005g0051others(23): Show | 26 | 288 | 0.0903 | -7 | c.139 others(26): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 17/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38469153 | CAAAAAAA | C | intron_variant | MODIFIER | HG00642.hp1 HG01070.hp2 HG01106.hp1 others(39): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0124a0001c0001t0001g0241a0001c0001t0002g0017others(39): Show | 42 | 288 | 0.1458 | -7 | c.591 others(24): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 7/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38473710 | CAAAAAAA | C | intron_variant | MODIFIER | HG01515.hp2 HG01517.hp2 HG01978.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(2): Show | a0001c0001t0001g0055a0001c0001t0001g0176a0001c0001t0001g0177others(9): Show | 12 | 288 | 0.0417 | -7 | c.590 others(24): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 7/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38571275 | ATATTTTT | A | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp1 HG00642.hp2 others(27): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0020a0001c0001t0001g0055a0001c0001t0001g0056others(27): Show | 30 | 288 | 0.1042 | -7 | c.70- others(24): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 1/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38610299 | AAGAAAAG | A | intron_variant | MODIFIER | HG00621.hp2 HG00642.hp2 HG01099.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0049a0001c0001t0001g0117a0001c0001t0003g0060others(11): Show | 14 | 288 | 0.0486 | -7 | c.69+ others(24): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 1/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38612084 | CTTCTTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00733.hp1 HG01192.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0003a0001c0001t0006a0001c0002t0002others(2): Show | a0001c0001t0003g0278a0001c0001t0003g0279a0001c0001t0003g0281others(7): Show | 10 | 288 | 0.0347 | -7 | c.69+ others(24): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 1/20 | chr7 | TogoVar | ||||||
AMTN_chr4_70513569_70537743 | 70516298 | AAAAATAT | A | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00609.hp2 others(45): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0005c0006t0001 | a0001c0001t0001g0002a0001c0001t0001g0014a0001c0001t0001g0022others(14): Show | 48 | 458 | 0.1048 | -7 | c.-23 others(18): Show |
AMTN | ENSG00000187689.10 | transcript | ENST00000339336.9 | protein_coding | 2270 | chr4 | TogoVar | ||||||
AMTN_chr4_70513569_70537743 | 70516300 | AAATATAT | A | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02896.hp1 HG03195.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0002a0001c0001t0001g0022a0001c0001t0001g0055others(4): Show | 7 | 458 | 0.0153 | -7 | c.-23 others(18): Show |
AMTN | ENSG00000187689.10 | transcript | ENST00000339336.9 | protein_coding | 2268 | chr4 | TogoVar | ||||||
AMTN_chr4_70513569_70537743 | 70521640 | CTTTTTTT | C | intron_variant | MODIFIER | HG01346.hp2 HG01934.hp1 HG02004.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0095a0001c0001t0001g0134a0001c0001t0001g0135others(4): Show | 10 | 458 | 0.0218 | -7 | c.55- others(22): Show |
AMTN | ENSG00000187689.10 | transcript | ENST00000339336.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
AMZ2_chr17_68243043_68262155 | 68257923 | ATGTATCT | A | downstream_gene_variant | MODIFIER | HG00544.hp1 HG00558.hp2 NA18957.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 4 | 438 | 0.0091 | -7 | c.*95 others(16): Show |
AMZ2 | ENSG00000196704.14 | transcript | ENST00000359904.8 | protein_coding | 769 | chr17 | TogoVar | ||||||
ANAPC11_chr17_81886723_81905255 | 81896798 | CTTTTTTT | C | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG01891.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0027others(4): Show | 14 | 312 | 0.0449 | -7 | c.109 others(24): Show |
ANAPC11 | ENSG00000141552.18 | transcript | ENST00000344877.10 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ANAPC16_chr10_72211012_72240860 | 72229032 | GCTTTCCT | G | intron_variant | MODIFIER | HG01433.hp2 HG02280.hp1 HG02572.hp1 others(10): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0024 | a0001c0002t0004g0189a0001c0002t0004g0190a0001c0002t0004g0191others(10): Show | 13 | 352 | 0.0369 | -7 | c.143 others(24): Show |
ANAPC16 | ENSG00000166295.9 | transcript | ENST00000299381.5 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ANAPC7_chr12_110367900_110408708 | 110382456 | AAAAAAAT | A | intron_variant | MODIFIER | HG00423.hp1 HG00558.hp2 HG02071.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048a0001c0001t0001g0064a0001c0001t0001g0089others(4): Show | 7 | 298 | 0.0235 | -7 | c.935 others(22): Show |
ANAPC7 | ENSG00000196510.14 | transcript | ENST00000455511.9 | protein_coding | 7/10 | chr12 | TogoVar | ||||||
ANGEL2_chr1_212987182_213020867 | 212996641 | ATATATAT | A | intron_variant | MODIFIER | HG00408.hp2 HG02080.hp1 NA18952.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0130a0001c0001t0004g0131a0001c0001t0004g0139others(3): Show | 6 | 392 | 0.0153 | -7 | c.148 others(24): Show |
ANGEL2 | ENSG00000174606.14 | transcript | ENST00000366962.8 | protein_coding | 8/8 | chr1 | TogoVar | ||||||
ANGPT1_chr8_107244482_107502918 | 107272733 | CATATATA | C | intron_variant | MODIFIER | HG01891.hp1 HG02257.hp2 HG02809.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0192a0001c0001t0007g0217a0001c0001t0007g0218others(5): Show | 8 | 292 | 0.0274 | -7 | c.120 others(26): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 7/8 | chr8 | TogoVar | ||||||
ANGPT1_chr8_107244482_107502918 | 107429666 | AAAAGTCG | A | intron_variant | MODIFIER | HG01071.hp1 HG02145.hp2 HG02280.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0180a0001c0001t0001g0181a0001c0001t0002g0177others(4): Show | 7 | 292 | 0.0240 | -7 | c.297 others(26): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
ANGPT2_chr8_6494632_6568245 | 6505332 | TAGAAAGA | T | intron_variant | MODIFIER | HG02055.hp2 HG03239.hp1 HG03669.hp1 |
a0001 | a0001c0005a0001c0008 | a0001c0005t0002a0001c0005t0021a0001c0008t0002 | a0001c0005t0002g0134a0001c0005t0021g0026a0001c0008t0002g0097 | 3 | 336 | 0.0089 | -7 | c.132 others(26): Show |
ANGPT2 | ENSG00000091879.14 | transcript | ENST00000629816.3 | protein_coding | 8/8 | chr8 | TogoVar | ||||||
ANGPTL1_chr1_178844535_178876077 | 178849420 | GGTTGTAT | G | downstream_gene_variant | MODIFIER | HG02895.hp2 HG02897.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044a0001c0001t0001g0291 | 3 | 424 | 0.0071 | -7 | c.*17 others(18): Show |
ANGPTL1 | ENSG00000116194.13 | transcript | ENST00000234816.7 | protein_coding | 114 | chr1 | TogoVar | ||||||
ANGPTL6_chr19_10087338_10107678 | 10103617 | AAATAAAT | A | upstream_gene_variant | MODIFIER | HG02615.hp2 HG02965.hp1 HG03516.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0013a0001c0001t0001g0030others(4): Show | 7 | 462 | 0.0152 | -7 | c.-10 others(18): Show |
ANGPTL6 | ENSG00000130812.11 | transcript | ENST00000253109.5 | protein_coding | 940 | chr19 | TogoVar | ||||||
ANGPTL6_chr19_10087338_10107678 | 10104310 | TGTGTGTG | T | upstream_gene_variant | MODIFIER | HG01361.hp2 HG01515.hp2 HG03704.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0011others(3): Show | 6 | 462 | 0.0130 | -7 | c.-17 others(18): Show |
ANGPTL6 | ENSG00000130812.11 | transcript | ENST00000253109.5 | protein_coding | 1633 | chr19 | TogoVar | ||||||
ANK2_chr4_113044653_113388736 | 113186580 | CTCTCTCT | C | intron_variant | MODIFIER | HG00558.hp2 HG01069.hp2 HG01255.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0092a0001c0001t0001g0095a0001c0001t0001g0166others(1): Show | 4 | 178 | 0.0225 | -7 | c.187 others(24): Show |
ANK2 | ENSG00000145362.21 | transcript | ENST00000357077.9 | protein_coding | 2/45 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ANK2_chr4_113044653_113388736 | 113240799 | TATTTCCA | T | intron_variant | MODIFIER | HG02109.hp2 HG03017.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069a0001c0001t0001g0149 | 2 | 178 | 0.0112 | -7 | c.792 others(22): Show |
ANK2 | ENSG00000145362.21 | transcript | ENST00000357077.9 | protein_coding | 8/45 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ANK2_chr4_113044653_113388736 | 113312167 | GGTGCTGA | G | intron_variant | MODIFIER | HG00609.hp1 HG00639.hp1 HG00642.hp2 others(55): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0001c0007others(16): Show | a0001c0001t0001a0001c0004t0001a0001c0007t0001others(18): Show | a0001c0001t0001g0022a0001c0001t0001g0044a0001c0001t0001g0078others(55): Show | 58 | 178 | 0.3258 | -7 | c.269 others(24): Show |
ANK2 | ENSG00000145362.21 | transcript | ENST00000357077.9 | protein_coding | 24/45 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ANK3_chr10_60021298_60394875 | 60218097 | CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG02145.hp1 others(24): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0008others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(22): Show | a0001c0001t0001g0133a0001c0001t0002g0043a0001c0001t0002g0075others(24): Show | 27 | 192 | 0.1406 | -7 | c.898 others(24): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 8/43 | chr10 | TogoVar | ||||||
ANK3_chr10_60021298_60394875 | 60226537 | CATAGTAT | C | intron_variant | MODIFIER | HG00544.hp1 HG02071.hp1 HG02165.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0067a0001c0068others(3): Show | a0001c0001t0004a0001c0067t0005a0001c0068t0002others(3): Show | a0001c0001t0004g0085a0001c0067t0005g0121a0001c0068t0002g0138others(3): Show | 6 | 192 | 0.0313 | -7 | c.897 others(24): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 8/43 | chr10 | TogoVar | ||||||
ANK3_chr10_60021298_60394875 | 60235550 | GTTTTTTT | G | intron_variant | MODIFIER | HG00323.hp2 HG00544.hp1 HG01071.hp2 others(31): Show |
a0001a0002a0004others(6): Show | a0001c0001a0001c0002a0001c0011others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0178a0001c0001t0002g0044a0001c0001t0003g0113others(31): Show | 34 | 192 | 0.1771 | -7 | c.799 others(22): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 7/43 | chr10 | TogoVar | ||||||
ANK3_chr10_60021298_60394875 | 60246255 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00544.hp1 others(44): Show |
a0001a0002a0004others(8): Show | a0001c0001a0001c0002a0001c0007others(27): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(40): Show | a0001c0001t0001g0126a0001c0001t0001g0178a0001c0001t0002g0044others(44): Show | 47 | 192 | 0.2448 | -7 | c.799 others(26): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 7/43 | chr10 | TogoVar | ||||||
ANKAR_chr2_189669670_189751647 | 189677128 | TTTTTTTG | T | intron_variant | MODIFIER | HG02559.hp1 HG02572.hp1 HG02622.hp2 others(10): Show |
a0001 | a0001c0001a0001c0015 | a0001c0001t0001a0001c0015t0001 | a0001c0001t0001g0073a0001c0001t0001g0074a0001c0001t0001g0075others(10): Show | 13 | 296 | 0.0439 | -7 | c.601 others(20): Show |
ANKAR | ENSG00000151687.15 | transcript | ENST00000684021.1 | protein_coding | 2/22 | chr2 | TogoVar | ||||||
ANKAR_chr2_189669670_189751647 | 189742974 | ACACACAC | A | intron_variant | MODIFIER | HG01175.hp1 HG01981.hp2 HG02630.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0040a0001c0001t0001g0135a0001c0001t0001g0233others(2): Show | 5 | 296 | 0.0169 | -7 | c.381 others(24): Show |
ANKAR | ENSG00000151687.15 | transcript | ENST00000684021.1 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ANKDD1A_chr15_64906902_64963691 | 64952710 | CCTTTCTT | C | intron_variant | MODIFIER | HG01884.hp2 HG02145.hp1 HG02257.hp2 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0208a0001c0002t0004g0229a0001c0002t0004g0231others(6): Show | 9 | 338 | 0.0266 | -7 | c.148 others(26): Show |
ANKDD1A | ENSG00000166839.18 | transcript | ENST00000319580.13 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |