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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
A2ML1_chr12_8817621_8881787 | 8840978 | A | AGAAGGAA others(9): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00639.hp2 HG00642.hp1 others(18): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0002c0003others(8): Show | a0001c0001t0001a0001c0002t0002a0002c0003t0001others(9): Show | a0001c0001t0001g0208a0001c0001t0001g0298a0001c0002t0002g0050others(17): Show | 21 | 368 | 0.0571 | 16 | c.108 others(33): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 10/35 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
A2ML1_chr12_8817621_8881787 | 8841005 | A | AGGAAGGA others(9): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0004 | a0004c0042 | a0004c0042t0002 | a0004c0042t0002g0013 | 1 | 368 | 0.0027 | 16 | c.108 others(33): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 10/35 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
A2ML1_chr12_8817621_8881787 | 8841009 | A | AGGAAGGA others(9): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00423.hp2 others(56): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0006others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0057a0001c0001t0001g0125a0001c0001t0001g0154others(53): Show | 59 | 368 | 0.1603 | 16 | c.108 others(33): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 10/35 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
A2ML1_chr12_8817621_8881787 | 8841021 | A | AGGAAGGA others(9): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0033 | a0033c0049 | a0033c0049t0001 | a0033c0049t0001g0021 | 1 | 368 | 0.0027 | 16 | c.108 others(33): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 10/35 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
A2M_chr12_9062708_9120919 | 9120852 | C | CATGTGTG others(9): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0053a0001c0001t0002g0071 | 2 | 332 | 0.0060 | 16 | c.-50 others(27): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 4934 | chr12 | TogoVar | ||||||
A2M_chr12_9062708_9120919 | 9120852 | C | CGTGTGTG others(9): Show |
upstream_gene_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 332 | 0.0030 | 16 | c.-50 others(27): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 4934 | chr12 | TogoVar | ||||||
A3GALT2_chr1_33301766_33326098 | 33308750 | G | GTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG03225.hp2 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0132a0001c0001t0000g0258 | 2 | 418 | 0.0048 | 16 | c.336 others(33): Show |
A3GALT2 | ENSG00000184389.9 | transcript | ENST00000442999.3 | protein_coding | 4/4 | chr1 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42696121 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG00673.hp2 NA18962.hp1 NA18980.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0101a0001c0001t0002g0120a0001c0001t0002g0160 | 3 | 406 | 0.0074 | 16 | c.-18 others(33): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42703106 | C | CTGTGTGT others(9): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02109.hp2 HG02615.hp1 others(5): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0002t0023others(2): Show | a0001c0001t0002g0091a0001c0001t0002g0095a0001c0001t0004g0288others(5): Show | 8 | 406 | 0.0197 | 16 | c.-18 others(35): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42708545 | A | AGAAGGAA others(9): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01070.hp1 HG01071.hp2 others(34): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0009others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(13): Show | a0001c0001t0002g0087a0001c0001t0002g0152a0001c0001t0002g0205others(32): Show | 37 | 406 | 0.0911 | 16 | c.-18 others(37): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | ||||||
A4GALT_chr22_42687121_42725870 | 42709067 | A | ATATATAT others(9): Show |
intron_variant | MODIFIER | HG04199.hp1 NA18980.hp2 NA19085.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0002t0009 | a0001c0001t0007g0033a0001c0001t0007g0059a0001c0002t0009g0117 | 3 | 406 | 0.0074 | 16 | c.-18 others(37): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | ||||||
AAAS_chr12_53302460_53326610 | 53318223 | A | AGTGTGTG others(9): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 330 | 0.0030 | 16 | c.251 others(33): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | chr12 | TogoVar | ||||||
AADACL2_chr3_151728927_151766339 | 151731938 | G | GAGATAGA others(9): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG00558.hp1 HG00609.hp1 others(44): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(21): Show | a0001c0001t0001g0015a0001c0001t0001g0141a0001c0001t0003g0009others(36): Show | 47 | 428 | 0.1098 | 16 | c.-20 others(27): Show |
AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 1988 | chr3 | TogoVar | ||||||
AADACL2_chr3_151728927_151766339 | 151761204 | G | GATATATA others(9): Show |
3_prime_UTR_variant | MODIFIER | NA18942.hp2 NA18971.hp2 NA19002.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0031a0002c0002t0036 | a0001c0001t0031g0053a0001c0001t0031g0130a0002c0002t0036g0003others(1): Show | 4 | 428 | 0.0094 | 16 | c.*36 others(27): Show |
AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 5/5 | 3649 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
AADACL4_chr1_12639085_12672076 | 12648346 | A | ATCCATCC others(9): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02109.hp1 HG02280.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0002t0001a0001c0002t0004others(1): Show | a0001c0001t0002g0042a0001c0002t0001g0227a0001c0002t0001g0228others(3): Show | 6 | 310 | 0.0194 | 16 | c.169 others(33): Show |
AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AADACL4_chr1_12639085_12672076 | 12648346 | A | ATCCTTCC others(9): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01255.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110a0001c0001t0001g0111 | 2 | 310 | 0.0065 | 16 | c.169 others(33): Show |
AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AADACL4_chr1_12639085_12672076 | 12648388 | C | CCTTCCTT others(9): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01884.hp2 HG02145.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0011 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0044others(7): Show | 10 | 310 | 0.0323 | 16 | c.169 others(33): Show |
AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AADACL4_chr1_12639085_12672076 | 12658052 | C | CCTTTCTT others(9): Show |
intron_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 310 | 0.0032 | 16 | c.386 others(33): Show |
AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AADACL4_chr1_12639085_12672076 | 12658108 | T | TTTCCTTC others(9): Show |
intron_variant | MODIFIER | HG02735.hp2 HG02738.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203a0001c0001t0001g0258 | 2 | 310 | 0.0065 | 16 | c.386 others(33): Show |
AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AADAC_chr3_151809116_151833488 | 151831382 | T | TATACACA others(9): Show |
downstream_gene_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 440 | 0.0023 | 16 | c.*32 others(27): Show |
AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 2895 | chr3 | TogoVar | ||||||
AADAT_chr4_170055222_170094956 | 170056457 | T | TATATATA others(9): Show |
downstream_gene_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 378 | 0.0027 | 16 | c.*44 others(27): Show |
AADAT | ENSG00000109576.14 | transcript | ENST00000337664.9 | protein_coding | 3764 | chr4 | TogoVar | ||||||
AAGAB_chr15_67195667_67259661 | 67222242 | G | GCGCACAC others(9): Show |
intron_variant | MODIFIER | HG03471.hp1 NA18980.hp1 |
a0002a0003 | a0002c0002a0003c0005 | a0002c0002t0003a0003c0005t0004 | a0002c0002t0003g0173a0003c0005t0004g0357 | 2 | 380 | 0.0053 | 16 | c.535 others(33): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 5/9 | chr15 | TogoVar | ||||||
AAGAB_chr15_67195667_67259661 | 67222242 | G | GCGCGCAC others(9): Show |
intron_variant | MODIFIER | NA18986.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0220 | 1 | 380 | 0.0026 | 16 | c.535 others(33): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 5/9 | chr15 | TogoVar | ||||||
AAGAB_chr15_67195667_67259661 | 67222242 | G | GCGCGTGC others(9): Show |
intron_variant | MODIFIER | NA19077.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0233 | 1 | 380 | 0.0026 | 16 | c.535 others(33): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 5/9 | chr15 | TogoVar | ||||||
AAGAB_chr15_67195667_67259661 | 67222282 | A | ACACACAC others(9): Show |
intron_variant | MODIFIER | HG01081.hp1 NA18939.hp1 NA18942.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0157a0002c0002t0003g0176a0002c0002t0003g0192others(2): Show | 5 | 380 | 0.0132 | 16 | c.535 others(33): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 5/9 | chr15 | TogoVar | ||||||
AAGAB_chr15_67195667_67259661 | 67241040 | T | TACACACA others(9): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0110 | 1 | 380 | 0.0026 | 16 | c.74- others(31): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 1/9 | chr15 | TogoVar | ||||||
AAGAB_chr15_67195667_67259661 | 67253260 | C | CGGGGGGG others(9): Show |
intron_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0244 | 1 | 380 | 0.0026 | 16 | c.73+ others(31): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 1/9 | chr15 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69488149 | C | CGTGTGTG others(9): Show |
intron_variant | MODIFIER | HG01975.hp1 HG02622.hp1 HG02717.hp2 others(3): Show |
a0001a0002a0004 | a0001c0001a0002c0005a0004c0012 | a0001c0001t0006a0001c0001t0063a0001c0001t0137others(3): Show | a0001c0001t0006g0213a0001c0001t0063g0288a0001c0001t0137g0247others(3): Show | 6 | 298 | 0.0201 | 16 | c.236 others(35): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69490923 | C | CCACACAC others(9): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0063 | a0001c0001t0063g0288 | 1 | 298 | 0.0034 | 16 | c.236 others(35): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69493158 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | NA18747.hp2 NA18955.hp1 NA19090.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0013 | a0002c0002t0001g0042a0002c0002t0001g0044a0002c0002t0013g0112 | 3 | 298 | 0.0101 | 16 | c.236 others(35): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69500664 | A | AATATACA others(9): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0004 | a0001c0004t0067 | a0001c0004t0067g0077 | 1 | 298 | 0.0034 | 16 | c.227 others(35): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69500664 | A | AATATATA others(9): Show |
intron_variant | MODIFIER | NA19068.hp1 NA19084.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0034a0002c0002t0003 | a0001c0001t0034g0267a0002c0002t0003g0242 | 2 | 298 | 0.0067 | 16 | c.227 others(35): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69500698 | T | TATATATA others(9): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0002 | a0002c0005 | a0002c0005t0122 | a0002c0005t0122g0182 | 1 | 298 | 0.0034 | 16 | c.227 others(35): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69500698 | T | TATATATA others(9): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0245 | 1 | 298 | 0.0034 | 16 | c.227 others(35): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69500698 | T | TATATATA others(9): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0002 | a0002c0002 | a0002c0002t0033 | a0002c0002t0033g0200 | 1 | 298 | 0.0034 | 16 | c.227 others(35): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | chr2 | TogoVar | ||||||
AAK1_chr2_69452997_69648739 | 69500698 | T | TATATATA others(9): Show |
intron_variant | MODIFIER | HG01934.hp1 HG01975.hp2 HG02602.hp2 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003a0002c0002t0005others(2): Show | a0002c0002t0001g0019a0002c0002t0001g0038a0002c0002t0003g0215others(5): Show | 8 | 298 | 0.0269 | 16 | c.227 others(35): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 16/21 | chr2 | TogoVar | ||||||
AAMDC_chr11_77816144_77877352 | 77852224 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00735.hp2 HG00741.hp2 others(47): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0005a0001c0001t0001g0095a0001c0001t0001g0097others(46): Show | 50 | 382 | 0.1309 | 16 | c.132 others(33): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AAMDC_chr11_77816144_77877352 | 77852239 | A | AAAAAAAA others(9): Show |
intron_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 382 | 0.0026 | 16 | c.132 others(33): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AARS1_chr16_70247298_70294506 | 70249014 | T | TAAAAAAA others(9): Show |
downstream_gene_variant | MODIFIER | HG02572.hp2 HG03471.hp2 HG03579.hp2 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0347a0002c0004t0001g0350a0002c0004t0001g0354 | 3 | 362 | 0.0083 | 16 | c.*36 others(27): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 3283 | chr16 | TogoVar | ||||||
AARS1_chr16_70247298_70294506 | 70272889 | G | GACACACA others(9): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG01433.hp2 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(1): Show | a0001c0001t0001g0006a0001c0001t0001g0014a0001c0001t0001g0017others(12): Show | 15 | 362 | 0.0414 | 16 | c.480 others(31): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 4/20 | chr16 | TogoVar | ||||||
AASDH_chr4_56333290_56392491 | 56381649 | T | TCACACAC others(9): Show |
intron_variant | MODIFIER | HG02809.hp2 HG02922.hp1 HG02976.hp2 |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0010t0001 | a0001c0001t0001g0015a0001c0010t0001g0281 | 3 | 382 | 0.0079 | 16 | c.351 others(31): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 3/14 | chr4 | TogoVar | ||||||
AASDH_chr4_56333290_56392491 | 56381649 | T | TCTCACAC others(9): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(34): Show |
a0002a0003a0004others(1): Show | a0002c0002a0003c0003a0004c0004others(1): Show | a0002c0002t0001a0003c0003t0002a0004c0004t0001others(1): Show | a0002c0002t0001g0215a0002c0002t0001g0216a0003c0003t0002g0010others(30): Show | 37 | 382 | 0.0969 | 16 | c.351 others(31): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 3/14 | chr4 | TogoVar | ||||||
AASDH_chr4_56333290_56392491 | 56381649 | T | TCTCTCAC others(9): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0034 | 1 | 382 | 0.0026 | 16 | c.351 others(31): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 3/14 | chr4 | TogoVar | ||||||
AASS_chr7_122068549_122149249 | 122135862 | T | TTTTATAT others(9): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(275): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0014others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(32): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(232): Show | 278 | 384 | 0.7240 | 16 | c.-15 others(33): Show |
AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 1/23 | chr7 | TogoVar | ||||||
AASS_chr7_122068549_122149249 | 122140485 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00558.hp2 others(28): Show |
a0001a0007a0009 | a0001c0001a0001c0014a0007c0008others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0052a0001c0001t0001g0053a0001c0001t0001g0054others(24): Show | 31 | 384 | 0.0807 | 16 | c.-16 others(33): Show |
AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 1/23 | chr7 | TogoVar | ||||||
AATF_chr17_36943954_37061871 | 37001405 | G | GAGGGAGG others(9): Show |
intron_variant | MODIFIER | HG02055.hp1 HG03491.hp1 NA18983.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002 | a0001c0001t0001g0090a0001c0001t0001g0162a0001c0001t0001g0179others(3): Show | 6 | 245 | 0.0245 | 16 | c.139 others(37): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AATF_chr17_36943954_37061871 | 37001405 | G | GAGGGAGG others(9): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0124 | 1 | 245 | 0.0041 | 16 | c.139 others(37): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AATF_chr17_36943954_37061871 | 37001405 | G | GAGGGAGG others(9): Show |
intron_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009 | 1 | 245 | 0.0041 | 16 | c.139 others(37): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AATF_chr17_36943954_37061871 | 37058147 | G | GTATTTAT others(9): Show |
downstream_gene_variant | MODIFIER | HG02647.hp1 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0094 | 1 | 245 | 0.0041 | 16 | c.*14 others(27): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 1277 | chr17 | TogoVar | ||||||
AATF_chr17_36943954_37061871 | 37059836 | G | GGAGTGCA others(9): Show |
downstream_gene_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0075 | 1 | 245 | 0.0041 | 16 | c.*31 others(27): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 2966 | chr17 | TogoVar |