view | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DOCK8_chr9_209865_470255 | 451977 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG02572.hp1 HG03098.hp1 HG03453.hp2 others(1): Show |
a0003a0008a0011others(1): Show | a0003c0001a0008c0118a0011c0156others(1): Show | a0003c0001t0001a0008c0118t0001a0011c0156t0001others(1): Show | a0003c0001t0001g0145a0008c0118t0001g0036a0011c0156t0001g0052others(1): Show | 4 | 256 | 0.0156 | -10 | c.596 others(24): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 45/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DOCK9_chr13_98788429_98983064 | 98814935 | CAAAATAA others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00597.hp1 HG00642.hp1 others(49): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0017a0001c0001t0001g0038others(48): Show | 52 | 348 | 0.1494 | -10 | c.513 others(29): Show |
DOCK9 | ENSG00000088387.22 | transcript | ENST00000682017.1 | protein_coding | 45/52 | chr13 | TogoVar | |||||||
DOCK9_chr13_98788429_98983064 | 98872370 | CCTATTTT others(3): Show |
C | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 348 | 0.0029 | -10 | c.294 others(29): Show |
DOCK9 | ENSG00000088387.22 | transcript | ENST00000682017.1 | protein_coding | 27/52 | chr13 | TogoVar | |||||||
DOCK9_chr13_98788429_98983064 | 98954863 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0067 | 1 | 348 | 0.0029 | -10 | c.243 others(25): Show |
DOCK9 | ENSG00000088387.22 | transcript | ENST00000682017.1 | protein_coding | 2/52 | chr13 | TogoVar | |||||||
DOCK9_chr13_98788429_98983064 | 98975472 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00673.hp1 HG01081.hp1 others(29): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0039others(29): Show | 32 | 348 | 0.0920 | -10 | c.126 others(27): Show |
DOCK9 | ENSG00000088387.22 | transcript | ENST00000682017.1 | protein_coding | 1/52 | chr13 | TogoVar | |||||||
DOK2_chr8_21903873_21918690 | 21916497 | TATAACAT others(3): Show |
T | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00639.hp1 others(67): Show |
a0001a0004a0010 | a0001c0001a0001c0002a0004c0006others(1): Show | a0001c0001t0001a0001c0002t0001a0004c0006t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(11): Show | 70 | 442 | 0.1584 | -10 | c.-29 others(21): Show |
DOK2 | ENSG00000147443.13 | transcript | ENST00000276420.9 | protein_coding | 2808 | chr8 | TogoVar | |||||||
DOK3_chr5_177496904_177514826 | 177497008 | GGGGGGGG others(3): Show |
G | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00438.hp2 others(49): Show |
a0001a0002a0004 | a0001c0001a0001c0007a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0014a0001c0001t0017others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0020a0001c0001t0001g0031others(14): Show | 52 | 436 | 0.1193 | -10 | c.*69 others(21): Show |
DOK3 | ENSG00000146094.16 | transcript | ENST00000510898.7 | protein_coding | 4895 | chr5 | TogoVar | |||||||
DOK5_chr20_54470593_54656169 | 54480925 | CAATCATC others(3): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG03471.hp1 NA19043.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0112a0001c0001t0002g0113a0001c0002t0001g0003 | 3 | 130 | 0.0231 | -10 | c.66+ others(25): Show |
DOK5 | ENSG00000101134.12 | transcript | ENST00000262593.10 | protein_coding | 1/7 | chr20 | TogoVar | |||||||
DOK5_chr20_54470593_54656169 | 54486325 | GATATGTC others(3): Show |
G | intron_variant | MODIFIER | HG01109.hp2 HG02258.hp1 HG02818.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0032others(2): Show | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0106others(6): Show | 9 | 130 | 0.0692 | -10 | c.66+ others(27): Show |
DOK5 | ENSG00000101134.12 | transcript | ENST00000262593.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DOK5_chr20_54470593_54656169 | 54501483 | AAAAAAAA others(3): Show |
A | intron_variant | MODIFIER | HG01106.hp2 HG02809.hp1 HG03453.hp1 others(3): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(1): Show | a0001c0001t0001g0081a0001c0001t0002g0079a0001c0001t0002g0082others(3): Show | 6 | 130 | 0.0462 | -10 | c.66+ others(27): Show |
DOK5 | ENSG00000101134.12 | transcript | ENST00000262593.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DOK5_chr20_54470593_54656169 | 54605010 | AAAATATA others(3): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG00733.hp2 HG00735.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(10): Show | a0001c0001t0002g0055a0001c0001t0004g0096a0001c0001t0006g0064others(16): Show | 19 | 130 | 0.1462 | -10 | c.600 others(27): Show |
DOK5 | ENSG00000101134.12 | transcript | ENST00000262593.10 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DOK5_chr20_54470593_54656169 | 54616784 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG03209.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0014a0001c0001t0001g0106a0001c0001t0012g0129 | 3 | 130 | 0.0231 | -10 | c.735 others(27): Show |
DOK5 | ENSG00000101134.12 | transcript | ENST00000262593.10 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DOK5_chr20_54470593_54656169 | 54619023 | TTATATAT others(3): Show |
T | intron_variant | MODIFIER | HG02559.hp2 HG03098.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0020 | a0001c0001t0002g0113a0001c0001t0007g0097a0001c0001t0020g0124 | 3 | 130 | 0.0231 | -10 | c.735 others(27): Show |
DOK5 | ENSG00000101134.12 | transcript | ENST00000262593.10 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DOK5_chr20_54470593_54656169 | 54633072 | AAAAACAA others(3): Show |
A | intron_variant | MODIFIER | HG00741.hp2 HG02559.hp1 HG02818.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0016 | a0001c0001t0002g0055a0001c0001t0007g0085a0001c0001t0016g0073 | 3 | 130 | 0.0231 | -10 | c.736 others(29): Show |
DOK5 | ENSG00000101134.12 | transcript | ENST00000262593.10 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DOK5_chr20_54470593_54656169 | 54644997 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0085 | 1 | 130 | 0.0077 | -10 | c.856 others(27): Show |
DOK5 | ENSG00000101134.12 | transcript | ENST00000262593.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DOK5_chr20_54470593_54656169 | 54645925 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG00735.hp1 HG01256.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0002g0112a0001c0001t0003g0025a0001c0001t0003g0036others(8): Show | 11 | 130 | 0.0846 | -10 | c.856 others(27): Show |
DOK5 | ENSG00000101134.12 | transcript | ENST00000262593.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DOK6_chr18_69395888_69854087 | 69405592 | TAAATAAA others(3): Show |
T | intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0068 | a0001c0001t0068g0001 | 1 | 170 | 0.0059 | -10 | c.66+ others(25): Show |
DOK6 | ENSG00000206052.11 | transcript | ENST00000382713.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
DOK6_chr18_69395888_69854087 | 69429620 | CATATATA others(3): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00735.hp2 HG04115.hp2 others(3): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0006 | a0001c0001t0001a0001c0001t0012a0001c0001t0067others(3): Show | a0001c0001t0001g0060a0001c0001t0012g0144a0001c0001t0067g0143others(3): Show | 6 | 170 | 0.0353 | -10 | c.66+ others(27): Show |
DOK6 | ENSG00000206052.11 | transcript | ENST00000382713.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
DOK6_chr18_69395888_69854087 | 69455065 | AAAAAGAA others(3): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00558.hp1 HG00609.hp1 others(32): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(27): Show | a0001c0001t0001g0060a0001c0001t0001g0140a0001c0001t0001g0146others(32): Show | 35 | 170 | 0.2059 | -10 | c.66+ others(27): Show |
DOK6 | ENSG00000206052.11 | transcript | ENST00000382713.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
DOK6_chr18_69395888_69854087 | 69459187 | TTGTGTGT others(3): Show |
T | intron_variant | MODIFIER | HG02683.hp2 HG03041.hp1 NA19030.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0033a0001c0002t0095 | a0001c0001t0005g0133a0001c0001t0033g0015a0001c0002t0095g0094 | 3 | 170 | 0.0177 | -10 | c.66+ others(27): Show |
DOK6 | ENSG00000206052.11 | transcript | ENST00000382713.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
DOK6_chr18_69395888_69854087 | 69487177 | ATGTGTGT others(3): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG00609.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0011others(21): Show | a0001c0001t0001g0100a0001c0001t0001g0140a0001c0001t0005g0006others(22): Show | 25 | 170 | 0.1471 | -10 | c.67- others(27): Show |
DOK6 | ENSG00000206052.11 | transcript | ENST00000382713.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
DOK6_chr18_69395888_69854087 | 69540034 | ACTGTCAA others(3): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00423.hp1 others(117): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(89): Show | a0001c0001t0001g0060a0001c0001t0001g0064a0001c0001t0001g0065others(117): Show | 120 | 170 | 0.7059 | -10 | c.67- others(27): Show |
DOK6 | ENSG00000206052.11 | transcript | ENST00000382713.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
DOK6_chr18_69395888_69854087 | 69541242 | TTGCAGAC others(3): Show |
T | intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0155 | 1 | 170 | 0.0059 | -10 | c.67- others(27): Show |
DOK6 | ENSG00000206052.11 | transcript | ENST00000382713.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
DOK6_chr18_69395888_69854087 | 69565517 | GTGTGTAT others(3): Show |
G | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0107 | 1 | 170 | 0.0059 | -10 | c.174 others(25): Show |
DOK6 | ENSG00000206052.11 | transcript | ENST00000382713.10 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
DOK6_chr18_69395888_69854087 | 69583752 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp1 HG02559.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0014a0001c0001t0022a0001c0001t0071others(3): Show | a0001c0001t0014g0148a0001c0001t0022g0061a0001c0001t0071g0010others(3): Show | 6 | 170 | 0.0353 | -10 | c.175 others(29): Show |
DOK6 | ENSG00000206052.11 | transcript | ENST00000382713.10 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
DOK6_chr18_69395888_69854087 | 69605076 | TTGTGTGT others(3): Show |
T | intron_variant | MODIFIER | HG03486.hp2 NA19043.hp1 |
a0001 | a0001c0003 | a0001c0003t0030a0001c0003t0094 | a0001c0003t0030g0053a0001c0003t0094g0160 | 2 | 170 | 0.0118 | -10 | c.289 others(27): Show |
DOK6 | ENSG00000206052.11 | transcript | ENST00000382713.10 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
DOK6_chr18_69395888_69854087 | 69605150 | TCATTTTG others(3): Show |
T | intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0126 | 1 | 170 | 0.0059 | -10 | c.289 others(27): Show |
DOK6 | ENSG00000206052.11 | transcript | ENST00000382713.10 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
DOK6_chr18_69395888_69854087 | 69694058 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02145.hp1 NA19240.hp2 |
a0001 | a0001c0002 | a0001c0002t0053a0001c0002t0109 | a0001c0002t0053g0063a0001c0002t0109g0018 | 2 | 170 | 0.0118 | -10 | c.410 others(27): Show |
DOK6 | ENSG00000206052.11 | transcript | ENST00000382713.10 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
DOK6_chr18_69395888_69854087 | 69712317 | AAAAAAAA others(3): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp2 HG00609.hp1 others(27): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(20): Show | a0001c0001t0001g0059a0001c0001t0001g0071a0001c0001t0001g0100others(27): Show | 30 | 170 | 0.1765 | -10 | c.599 others(29): Show |
DOK6 | ENSG00000206052.11 | transcript | ENST00000382713.10 | protein_coding | 5/7 | chr18 | TogoVar | |||||||
DOK6_chr18_69395888_69854087 | 69801084 | ATTTTGTT others(3): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG01069.hp2 HG01071.hp2 others(27): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0005a0001c0001t0011a0001c0001t0014others(26): Show | a0001c0001t0005g0006a0001c0001t0011g0095a0001c0001t0014g0148others(27): Show | 30 | 170 | 0.1765 | -10 | c.857 others(29): Show |
DOK6 | ENSG00000206052.11 | transcript | ENST00000382713.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
DOK6_chr18_69395888_69854087 | 69811524 | TTATATAT others(3): Show |
T | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0002 | a0001c0002t0053 | a0001c0002t0053g0063 | 1 | 170 | 0.0059 | -10 | c.857 others(29): Show |
DOK6 | ENSG00000206052.11 | transcript | ENST00000382713.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
DOK6_chr18_69395888_69854087 | 69811569 | TATATATA others(3): Show |
T | intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0151 | 1 | 170 | 0.0059 | -10 | c.857 others(29): Show |
DOK6 | ENSG00000206052.11 | transcript | ENST00000382713.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
DOK6_chr18_69395888_69854087 | 69848019 | TCACACAC others(3): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00642.hp2 HG00738.hp1 HG01069.hp1 others(32): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0004a0001c0001t0005a0001c0001t0014others(22): Show | a0001c0001t0004g0107a0001c0001t0004g0137a0001c0001t0005g0006others(32): Show | 35 | 170 | 0.2059 | -10 | c.*66 others(21): Show |
DOK6 | ENSG00000206052.11 | transcript | ENST00000382713.10 | protein_coding | 8/8 | 6671 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
DOK7_chr4_3458306_3499482 | 3490405 | TCACCCCC others(3): Show |
T | intron_variant | MODIFIER | HG02258.hp1 | a0004 | a0004c0007 | a0004c0007t0011 | a0004c0007t0011g0319 | 1 | 404 | 0.0025 | -10 | c.772 others(25): Show |
DOK7 | ENSG00000175920.18 | transcript | ENST00000340083.6 | protein_coding | 6/6 | chr4 | TogoVar | |||||||
DOLK_chr9_128940530_128952603 | 128944681 | TTTTTGTT others(3): Show |
T | downstream_gene_variant | MODIFIER | HG02896.hp2 HG02897.hp2 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0000 | 2 | 352 | 0.0057 | -10 | c.*99 others(20): Show |
DOLK | ENSG00000175283.8 | transcript | ENST00000372586.4 | protein_coding | 848 | chr9 | TogoVar | |||||||
DOLK_chr9_128940530_128952603 | 128948711 | CTTTTTTT others(3): Show |
C | upstream_gene_variant | MODIFIER | HG06807.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0000 | 1 | 352 | 0.0028 | -10 | c.-14 others(21): Show |
DOLK | ENSG00000175283.8 | transcript | ENST00000372586.4 | protein_coding | 1109 | chr9 | TogoVar | |||||||
DONSON_chr21_33572551_33593684 | 33577604 | TACACACA others(3): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01081.hp1 others(13): Show |
a0001a0007 | a0001c0001a0007c0011 | a0001c0001t0010a0001c0001t0028a0001c0001t0067others(1): Show | a0001c0001t0010g0016a0001c0001t0010g0117a0001c0001t0010g0118others(11): Show | 16 | 426 | 0.0376 | -10 | c.*69 others(19): Show |
DONSON | ENSG00000159147.18 | transcript | ENST00000303071.10 | protein_coding | 10/10 | 693 | chr21 | TogoVar | ||||||
DONSON_chr21_33572551_33593684 | 33577693 | ACACACAC others(3): Show |
A | 3_prime_UTR_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0001 | a0001c0001t0136 | a0001c0001t0136g0061 | 1 | 426 | 0.0024 | -10 | c.*60 others(19): Show |
DONSON | ENSG00000159147.18 | transcript | ENST00000303071.10 | protein_coding | 10/10 | 604 | chr21 | TogoVar | ||||||
DONSON_chr21_33572551_33593684 | 33580463 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG01981.hp1 HG02055.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(8): Show | a0001c0001t0002g0237a0001c0001t0004g0086a0001c0001t0005g0223others(8): Show | 11 | 426 | 0.0258 | -10 | c.135 others(27): Show |
DONSON | ENSG00000159147.18 | transcript | ENST00000303071.10 | protein_coding | 8/9 | chr21 | TogoVar | |||||||
DONSON_chr21_33572551_33593684 | 33584014 | TTATATAT others(3): Show |
T | intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0075 | a0001c0001t0075g0039 | 1 | 426 | 0.0024 | -10 | c.786 others(25): Show |
DONSON | ENSG00000159147.18 | transcript | ENST00000303071.10 | protein_coding | 4/9 | chr21 | TogoVar | |||||||
DOP1A_chr6_83062671_83173471 | 83074268 | GTAGCACT others(3): Show |
G | intron_variant | MODIFIER | NA19075.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0240 | 1 | 298 | 0.0034 | -10 | c.-14 others(29): Show |
DOP1A | ENSG00000083097.15 | transcript | ENST00000349129.7 | protein_coding | 1/38 | chr6 | TogoVar | |||||||
DOP1A_chr6_83062671_83173471 | 83085778 | TTTATGTT others(3): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG01891.hp2 HG02258.hp1 others(23): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0002c0002t0002a0003c0003t0001others(4): Show | a0001c0001t0001g0038a0001c0001t0001g0074a0001c0001t0001g0135others(23): Show | 26 | 298 | 0.0873 | -10 | c.-14 others(31): Show |
DOP1A | ENSG00000083097.15 | transcript | ENST00000349129.7 | protein_coding | 1/38 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DOP1A_chr6_83062671_83173471 | 83097865 | ATTATTTT others(3): Show |
A | intron_variant | MODIFIER | HG00597.hp1 HG02080.hp1 NA18972.hp1 |
a0002a0007 | a0002c0002a0007c0007 | a0002c0002t0002a0007c0007t0002 | a0002c0002t0002g0082a0002c0002t0002g0083a0007c0007t0002g0084 | 3 | 298 | 0.0101 | -10 | c.138 others(25): Show |
DOP1A | ENSG00000083097.15 | transcript | ENST00000349129.7 | protein_coding | 3/38 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DOP1A_chr6_83062671_83173471 | 83104026 | TAGTTTAA others(3): Show |
T | intron_variant | MODIFIER | HG02559.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0278a0001c0001t0003g0279 | 2 | 298 | 0.0067 | -10 | c.320 others(27): Show |
DOP1A | ENSG00000083097.15 | transcript | ENST00000349129.7 | protein_coding | 4/38 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DOP1A_chr6_83062671_83173471 | 83105356 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | NA18941.hp1 NA18957.hp1 NA18961.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014a0001c0001t0001g0067a0001c0001t0001g0068others(2): Show | 6 | 298 | 0.0201 | -10 | c.321 others(27): Show |
DOP1A | ENSG00000083097.15 | transcript | ENST00000349129.7 | protein_coding | 4/38 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DOP1A_chr6_83062671_83173471 | 83117119 | TTTTTATT others(3): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp1 HG02809.hp2 others(7): Show |
a0001a0012 | a0001c0001a0012c0011 | a0001c0001t0001a0012c0011t0001 | a0001c0001t0001g0026a0001c0001t0001g0027a0001c0001t0001g0029others(7): Show | 10 | 298 | 0.0336 | -10 | c.781 others(27): Show |
DOP1A | ENSG00000083097.15 | transcript | ENST00000349129.7 | protein_coding | 7/38 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DOP1A_chr6_83062671_83173471 | 83138579 | AGTTTTAT others(3): Show |
A | frameshift_variant | HIGH | HG03516.hp2 | a0010 | a0010c0013 | a0010c0013t0001 | a0010c0013t0001g0129 | 1 | 298 | 0.0034 | -10 | c.453 others(19): Show |
p.Ser others(6): Show |
DOP1A | ENSG00000083097.15 | transcript | ENST00000349129.7 | protein_coding | 21/39 | 4793/7957 | 4538/7398 | 1513/2465 | chr6 | TogoVar | |||
DOP1B_chr21_36151824_36299274 | 36228774 | TAAATAAA others(3): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG00741.hp1 HG00741.hp2 others(69): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(12): Show | a0001c0001t0001g0047a0001c0001t0001g0071a0001c0001t0001g0072others(69): Show | 72 | 292 | 0.2466 | -10 | c.166 others(27): Show |
DOP1B | ENSG00000142197.13 | transcript | ENST00000691173.1 | protein_coding | 13/36 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DOP1B_chr21_36151824_36299274 | 36236730 | ATGACTTT others(3): Show |
A | intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0139 | 1 | 292 | 0.0034 | -10 | c.262 others(27): Show |
DOP1B | ENSG00000142197.13 | transcript | ENST00000691173.1 | protein_coding | 15/36 | chr21 | TogoVar | |||||||
DOP1B_chr21_36151824_36299274 | 36246843 | ATTATGTT others(3): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00558.hp1 others(76): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(13): Show | a0001c0001t0001g0071a0001c0001t0001g0073a0001c0001t0001g0078others(76): Show | 79 | 292 | 0.2706 | -10 | c.469 others(27): Show |
DOP1B | ENSG00000142197.13 | transcript | ENST00000691173.1 | protein_coding | 19/36 | INFO_REALIGN_3_PRIME | chr21 | TogoVar |