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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TMPRSS6_chr22_37060436_37114713 | 37069345 | C | CTGGGGTG others(3): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG01099.hp2 HG01884.hp1 HG01884.hp2 others(9): Show |
a0001a0013 | a0001c0007a0001c0017a0001c0020others(2): Show | a0001c0007t0001a0001c0017t0001a0001c0020t0001others(3): Show | a0001c0007t0001g0021 a0001c0007t0001g0096 a0001c0007t0001g0160 others(9): Show |
12 | 348 | 0.0345 | 10 | c.184 others(24): Show |
TMPRSS6 | ENSG00000187045.19 | transcript | ENST00000676104.1 | protein_coding | 15/17 | chr22 | TogoVar | |||||||
TMPRSS6_chr22_37060436_37114713 | 37069375 | G | GTGGGGTG others(3): Show |
intron_variant | MODIFIER | HG02451.hp2 HG03139.hp1 |
a0007 | a0007c0028 | a0007c0028t0001 | a0007c0028t0001g0024 a0007c0028t0001g0312 |
2 | 348 | 0.0058 | 10 | c.184 others(25): Show |
TMPRSS6 | ENSG00000187045.19 | transcript | ENST00000676104.1 | protein_coding | 15/17 | chr22 | TogoVar | |||||||
TMPRSS6_chr22_37060436_37114713 | 37078957 | G | GAAAGAAA others(3): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01243.hp2 |
a0001a0012 | a0001c0004a0012c0082 | a0001c0004t0005a0012c0082t0001 | a0001c0004t0005g0268 a0012c0082t0001g0012 |
2 | 348 | 0.0058 | 10 | c.119 others(29): Show |
TMPRSS6 | ENSG00000187045.19 | transcript | ENST00000676104.1 | protein_coding | 10/17 | chr22 | TogoVar | |||||||
TMPRSS6_chr22_37060436_37114713 | 37078957 | G | GAAAGAAA others(3): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0016 | a0016c0043 | a0016c0043t0010 | a0016c0043t0010g0091 | 1 | 348 | 0.0029 | 10 | c.119 others(29): Show |
TMPRSS6 | ENSG00000187045.19 | transcript | ENST00000676104.1 | protein_coding | 10/17 | chr22 | TogoVar | |||||||
TMPRSS6_chr22_37060436_37114713 | 37078973 | A | AAGAAAGA others(3): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00621.hp1 HG01081.hp1 others(15): Show |
a0001a0002a0003others(3): Show | a0001c0004a0002c0001a0002c0012others(8): Show | a0001c0004t0001a0001c0004t0002a0002c0001t0001others(9): Show | a0001c0004t0001g0029 a0001c0004t0002g0324 a0002c0001t0001g0192 others(15): Show |
18 | 348 | 0.0517 | 10 | c.119 others(29): Show |
TMPRSS6 | ENSG00000187045.19 | transcript | ENST00000676104.1 | protein_coding | 10/17 | chr22 | TogoVar | |||||||
TMPRSS6_chr22_37060436_37114713 | 37084094 | A | AAGCCGGG others(3): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02145.hp2 HG02258.hp2 others(5): Show |
a0002a0015 | a0002c0014a0002c0016a0002c0031others(2): Show | a0002c0014t0007a0002c0016t0007a0002c0031t0006others(2): Show | a0002c0014t0007g0011 a0002c0016t0007g0309 a0002c0016t0007g0310 others(5): Show |
8 | 348 | 0.0230 | 10 | c.119 others(27): Show |
TMPRSS6 | ENSG00000187045.19 | transcript | ENST00000676104.1 | protein_coding | 10/17 | chr22 | TogoVar | |||||||
TMPRSS6_chr22_37060436_37114713 | 37111144 | C | CGTGTGTG others(3): Show |
upstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0069 | 1 | 348 | 0.0029 | 10 | c.-16 others(21): Show |
TMPRSS6 | ENSG00000187045.19 | transcript | ENST00000676104.1 | protein_coding | 1432 | chr22 | TogoVar | |||||||
TMPRSS7_chr3_112029736_112086269 | 112050522 | G | GAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG02970.hp2 HG03471.hp1 HG03540.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0013a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0150 a0001c0001t0001g0216 a0001c0001t0002g0149 others(5): Show |
8 | 420 | 0.0191 | 10 | c.109 others(27): Show |
TMPRSS7 | ENSG00000176040.14 | transcript | ENST00000452346.7 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TMPRSS7_chr3_112029736_112086269 | 112055454 | G | GACACACA others(3): Show |
intron_variant | MODIFIER | HG01358.hp1 HG03225.hp1 HG03654.hp1 others(1): Show |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0001a0004c0009t0004 | a0001c0001t0001g0215 a0001c0001t0001g0257 a0001c0001t0001g0258 others(1): Show |
4 | 420 | 0.0095 | 10 | c.120 others(29): Show |
TMPRSS7 | ENSG00000176040.14 | transcript | ENST00000452346.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TMPRSS7_chr3_112029736_112086269 | 112064351 | C | CTTTTCTT others(3): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(371): Show |
a0001a0002a0003others(21): Show | a0001c0001a0001c0002a0001c0004others(42): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(50): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(357): Show |
374 | 420 | 0.8905 | 10 | c.155 others(27): Show |
TMPRSS7 | ENSG00000176040.14 | transcript | ENST00000452346.7 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TMPRSS7_chr3_112029736_112086269 | 112064356 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0035 | 1 | 420 | 0.0024 | 10 | c.155 others(27): Show |
TMPRSS7 | ENSG00000176040.14 | transcript | ENST00000452346.7 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TMPRSS7_chr3_112029736_112086269 | 112085040 | T | TTAACCCT others(3): Show |
downstream_gene_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0152 | 1 | 420 | 0.0024 | 10 | c.*39 others(21): Show |
TMPRSS7 | ENSG00000176040.14 | transcript | ENST00000452346.7 | protein_coding | 3772 | chr3 | TogoVar | |||||||
TMPRSS7_chr3_112029736_112086269 | 112085348 | A | ATGTGTGT others(3): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00642.hp2 HG00738.hp2 others(32): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0009a0001c0002t0001others(7): Show | a0001c0001t0001g0131 a0001c0001t0001g0139 a0001c0001t0001g0145 others(32): Show |
35 | 420 | 0.0833 | 10 | c.*42 others(21): Show |
TMPRSS7 | ENSG00000176040.14 | transcript | ENST00000452346.7 | protein_coding | 4080 | chr3 | TogoVar | |||||||
TMPRSS9_chr19_2355265_2431261 | 2359758 | A | AACACACA others(3): Show |
upstream_gene_variant | MODIFIER | HG02630.hp1 | a0012 | a0012c0023 | a0012c0023t0002 | a0012c0023t0002g0106 | 1 | 114 | 0.0088 | 10 | c.-62 others(19): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 506 | chr19 | TogoVar | |||||||
TMPRSS9_chr19_2355265_2431261 | 2368774 | G | GTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG01346.hp2 NA20805.hp1 NA20805.hp2 |
a0001a0002a0024 | a0001c0004a0002c0001a0024c0029 | a0001c0004t0002a0002c0001t0001a0024c0029t0001 | a0001c0004t0002g0034 a0002c0001t0001g0030 a0024c0029t0001g0052 |
3 | 114 | 0.0263 | 10 | c.-26 others(27): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TMPRSS9_chr19_2355265_2431261 | 2377544 | C | CCTCTCCC others(3): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0007 | a0007c0012 | a0007c0012t0001 | a0007c0012t0001g0024 | 1 | 114 | 0.0088 | 10 | c.-25 others(29): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TMPRSS9_chr19_2355265_2431261 | 2379677 | C | CTTTCTTT others(3): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0005 | a0005c0010 | a0005c0010t0002 | a0005c0010t0002g0085 | 1 | 114 | 0.0088 | 10 | c.-25 others(29): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TMPRSS9_chr19_2355265_2431261 | 2379680 | T | TCTTTCTT others(3): Show |
intron_variant | MODIFIER | HG02040.hp2 HG03834.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0078 a0001c0002t0001g0108 |
2 | 114 | 0.0175 | 10 | c.-25 others(29): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 1/18 | chr19 | TogoVar | |||||||
TMPRSS9_chr19_2355265_2431261 | 2380598 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01069.hp1 HG01071.hp1 others(11): Show |
a0001a0003a0004others(3): Show | a0001c0002a0003c0006a0003c0009others(5): Show | a0001c0002t0001a0003c0006t0001a0003c0009t0002others(5): Show | a0001c0002t0001g0007 a0001c0002t0001g0055 a0001c0002t0001g0068 others(11): Show |
14 | 114 | 0.1228 | 10 | c.-25 others(27): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TMPRSS9_chr19_2355265_2431261 | 2418315 | C | CTCCTTCC others(3): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02809.hp2 HG03139.hp2 others(3): Show |
a0002a0007a0016others(3): Show | a0002c0001a0007c0025a0016c0016others(3): Show | a0002c0001t0001a0007c0025t0002a0016c0016t0001others(3): Show | a0002c0001t0001g0059 a0007c0025t0002g0114 a0016c0016t0001g0111 others(3): Show |
6 | 114 | 0.0526 | 10 | c.215 others(27): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TMPRSS9_chr19_2355265_2431261 | 2418496 | C | CCTCCCTA others(3): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0002 | a0002c0011 | a0002c0011t0001 | a0002c0011t0001g0087 | 1 | 114 | 0.0088 | 10 | c.215 others(27): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 14/18 | chr19 | TogoVar | |||||||
TMPRSS9_chr19_2355265_2431261 | 2418912 | C | CTCCTCCC others(3): Show |
intron_variant | MODIFIER | HG02148.hp1 HG02630.hp1 NA19066.hp2 |
a0001a0012a0023 | a0001c0004a0012c0023a0023c0024 | a0001c0004t0002a0012c0023t0002a0023c0024t0002 | a0001c0004t0002g0017 a0012c0023t0002g0106 a0023c0024t0002g0013 |
3 | 114 | 0.0263 | 10 | c.215 others(27): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 14/18 | chr19 | TogoVar | |||||||
TMPRSS9_chr19_2355265_2431261 | 2418967 | C | CTCCTCCC others(3): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0060 | 1 | 114 | 0.0088 | 10 | c.215 others(27): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 14/18 | chr19 | TogoVar | |||||||
TMSB10_chr2_84900656_84911671 | 84904032 | T | TAAAAAAA others(3): Show |
upstream_gene_variant | MODIFIER | HG01257.hp1 HG01358.hp2 HG01433.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 10 | 356 | 0.0281 | 10 | c.-17 others(21): Show |
TMSB10 | ENSG00000034510.6 | transcript | ENST00000233143.6 | protein_coding | 1623 | chr2 | TogoVar | |||||||
TMSB4Y_chrY_13698899_13711024 | 13699080 | G | GGTGTGTG others(3): Show |
upstream_gene_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 132 | 0.0076 | 10 | c.-52 others(21): Show |
TMSB4Y | ENSG00000154620.6 | transcript | ENST00000284856.4 | protein_coding | 4818 | chrY | TogoVar | |||||||
TMSB4Y_chrY_13698899_13711024 | 13699082 | G | GGTGTGTG others(3): Show |
upstream_gene_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 132 | 0.0076 | 10 | c.-52 others(21): Show |
TMSB4Y | ENSG00000154620.6 | transcript | ENST00000284856.4 | protein_coding | 4816 | chrY | TogoVar | |||||||
TMTC1_chr12_29495840_29788942 | 29497269 | C | CAAACAAA others(3): Show |
downstream_gene_variant | MODIFIER | HG00597.hp1 HG01256.hp1 HG01258.hp1 others(24): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0016others(18): Show | a0001c0001t0001g0181 a0001c0001t0003g0134 a0001c0001t0016g0137 others(24): Show |
27 | 276 | 0.0978 | 10 | c.*95 others(21): Show |
TMTC1 | ENSG00000133687.16 | transcript | ENST00000539277.6 | protein_coding | 3570 | chr12 | TogoVar | |||||||
TMTC1_chr12_29495840_29788942 | 29545629 | T | TCACACAC others(3): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0023 | a0001c0023t0064 | a0001c0023t0064g0008 | 1 | 276 | 0.0036 | 10 | c.167 others(29): Show |
TMTC1 | ENSG00000133687.16 | transcript | ENST00000539277.6 | protein_coding | 10/17 | chr12 | TogoVar | |||||||
TMTC1_chr12_29495840_29788942 | 29545629 | T | TCACTCAC others(3): Show |
intron_variant | MODIFIER | HG01361.hp1 NA19070.hp1 NA19091.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0067a0001c0001t0073a0002c0003t0007 | a0001c0001t0067g0152 a0001c0001t0073g0039 a0002c0003t0007g0271 |
3 | 276 | 0.0109 | 10 | c.167 others(29): Show |
TMTC1 | ENSG00000133687.16 | transcript | ENST00000539277.6 | protein_coding | 10/17 | chr12 | TogoVar | |||||||
TMTC1_chr12_29495840_29788942 | 29545629 | T | TCTCACAC others(3): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0006 | a0001c0006t0010 | a0001c0006t0010g0014 | 1 | 276 | 0.0036 | 10 | c.167 others(29): Show |
TMTC1 | ENSG00000133687.16 | transcript | ENST00000539277.6 | protein_coding | 10/17 | chr12 | TogoVar | |||||||
TMTC1_chr12_29495840_29788942 | 29545676 | C | CACACACA others(3): Show |
intron_variant | MODIFIER | HG01516.hp2 HG01884.hp2 HG02809.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0003 | a0001c0001t0002a0001c0001t0031a0001c0001t0034others(3): Show | a0001c0001t0002g0156 a0001c0001t0031g0067 a0001c0001t0034g0098 others(3): Show |
6 | 276 | 0.0217 | 10 | c.167 others(29): Show |
TMTC1 | ENSG00000133687.16 | transcript | ENST00000539277.6 | protein_coding | 10/17 | chr12 | TogoVar | |||||||
TMTC1_chr12_29495840_29788942 | 29550933 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG02055.hp1 HG03098.hp1 NA18522.hp1 |
a0001 | a0001c0002a0001c0006 | a0001c0002t0013a0001c0002t0048a0001c0006t0024 | a0001c0002t0013g0116 a0001c0002t0048g0046 a0001c0006t0024g0024 |
3 | 276 | 0.0109 | 10 | c.167 others(29): Show |
TMTC1 | ENSG00000133687.16 | transcript | ENST00000539277.6 | protein_coding | 10/17 | chr12 | TogoVar | |||||||
TMTC1_chr12_29495840_29788942 | 29591908 | G | GAAAACAA others(3): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(118): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(73): Show | a0001c0001t0001g0081 a0001c0001t0001g0087 a0001c0001t0002g0036 others(118): Show |
121 | 276 | 0.4384 | 10 | c.125 others(29): Show |
TMTC1 | ENSG00000133687.16 | transcript | ENST00000539277.6 | protein_coding | 7/17 | chr12 | TogoVar | |||||||
TMTC1_chr12_29495840_29788942 | 29591928 | C | CAAAACAA others(3): Show |
intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02145.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0007others(2): Show | a0001c0001t0034a0001c0005t0013a0001c0007t0010others(5): Show | a0001c0001t0034g0098 a0001c0005t0013g0094 a0001c0007t0010g0026 others(5): Show |
8 | 276 | 0.0290 | 10 | c.125 others(29): Show |
TMTC1 | ENSG00000133687.16 | transcript | ENST00000539277.6 | protein_coding | 7/17 | chr12 | TogoVar | |||||||
TMTC1_chr12_29495840_29788942 | 29599982 | G | GTATATAC others(3): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02717.hp2 NA18906.hp2 |
a0001 | a0001c0006a0001c0010 | a0001c0006t0010a0001c0010t0001 | a0001c0006t0010g0014 a0001c0006t0010g0015 a0001c0010t0001g0055 |
3 | 276 | 0.0109 | 10 | c.125 others(29): Show |
TMTC1 | ENSG00000133687.16 | transcript | ENST00000539277.6 | protein_coding | 7/17 | chr12 | TogoVar | |||||||
TMTC1_chr12_29495840_29788942 | 29617536 | C | CAGAGAGA others(3): Show |
intron_variant | MODIFIER | HG02056.hp2 HG02735.hp1 HG03017.hp1 others(1): Show |
a0001 | a0001c0002a0001c0008a0001c0017 | a0001c0002t0001a0001c0002t0032a0001c0008t0004others(1): Show | a0001c0002t0001g0162 a0001c0002t0032g0064 a0001c0008t0004g0063 others(1): Show |
4 | 276 | 0.0145 | 10 | c.112 others(31): Show |
TMTC1 | ENSG00000133687.16 | transcript | ENST00000539277.6 | protein_coding | 6/17 | chr12 | TogoVar | |||||||
TMTC1_chr12_29495840_29788942 | 29637085 | A | AAAACACA others(3): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG02071.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0078a0001c0002t0003a0001c0002t0015others(6): Show | a0001c0001t0078g0199 a0001c0002t0003g0178 a0001c0002t0015g0079 others(6): Show |
9 | 276 | 0.0326 | 10 | c.939 others(27): Show |
TMTC1 | ENSG00000133687.16 | transcript | ENST00000539277.6 | protein_coding | 5/17 | chr12 | TogoVar | |||||||
TMTC1_chr12_29495840_29788942 | 29643717 | A | ACATATTT others(3): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02818.hp2 |
a0001a0002 | a0001c0001a0002c0009 | a0001c0001t0027a0002c0009t0023 | a0001c0001t0027g0102 a0002c0009t0023g0216 |
2 | 276 | 0.0073 | 10 | c.939 others(29): Show |
TMTC1 | ENSG00000133687.16 | transcript | ENST00000539277.6 | protein_coding | 5/17 | chr12 | TogoVar | |||||||
TMTC1_chr12_29495840_29788942 | 29644003 | A | AATATAAA others(3): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0002 | a0002c0003 | a0002c0003t0012 | a0002c0003t0012g0228 | 1 | 276 | 0.0036 | 10 | c.939 others(29): Show |
TMTC1 | ENSG00000133687.16 | transcript | ENST00000539277.6 | protein_coding | 5/17 | chr12 | TogoVar | |||||||
TMTC1_chr12_29495840_29788942 | 29668454 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | NA18969.hp1 NA19012.hp2 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004 | a0001c0002t0002g0084 a0001c0002t0004g0103 |
2 | 276 | 0.0073 | 10 | c.939 others(29): Show |
TMTC1 | ENSG00000133687.16 | transcript | ENST00000539277.6 | protein_coding | 5/17 | chr12 | TogoVar | |||||||
TMTC1_chr12_29495840_29788942 | 29670934 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00558.hp1 others(48): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0005others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(41): Show | a0001c0001t0001g0147 a0001c0001t0002g0149 a0001c0001t0003g0134 others(48): Show |
51 | 276 | 0.1848 | 10 | c.939 others(29): Show |
TMTC1 | ENSG00000133687.16 | transcript | ENST00000539277.6 | protein_coding | 5/17 | chr12 | TogoVar | |||||||
TMTC1_chr12_29495840_29788942 | 29694934 | C | CAACAAAA others(3): Show |
intron_variant | MODIFIER | HG00738.hp2 HG02055.hp1 HG02257.hp2 |
a0001a0002 | a0001c0002a0001c0027a0002c0003 | a0001c0002t0048a0001c0027t0028a0002c0003t0080 | a0001c0002t0048g0046 a0001c0027t0028g0056 a0002c0003t0080g0273 |
3 | 276 | 0.0109 | 10 | c.938 others(29): Show |
TMTC1 | ENSG00000133687.16 | transcript | ENST00000539277.6 | protein_coding | 5/17 | chr12 | TogoVar | |||||||
TMTC1_chr12_29495840_29788942 | 29695793 | T | TTATATAT others(3): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0002 | a0002c0028 | a0002c0028t0092 | a0002c0028t0092g0261 | 1 | 276 | 0.0036 | 10 | c.938 others(29): Show |
TMTC1 | ENSG00000133687.16 | transcript | ENST00000539277.6 | protein_coding | 5/17 | chr12 | TogoVar | |||||||
TMTC1_chr12_29495840_29788942 | 29713300 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01081.hp1 HG01257.hp1 others(3): Show |
a0001a0002a0003 | a0001c0002a0001c0007a0002c0003others(1): Show | a0001c0002t0003a0001c0007t0010a0002c0003t0022others(2): Show | a0001c0002t0003g0085 a0001c0007t0010g0021 a0002c0003t0022g0252 others(3): Show |
6 | 276 | 0.0217 | 10 | c.938 others(29): Show |
TMTC1 | ENSG00000133687.16 | transcript | ENST00000539277.6 | protein_coding | 5/17 | chr12 | TogoVar | |||||||
TMTC1_chr12_29495840_29788942 | 29727782 | A | AGTTTTTT others(3): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00438.hp2 others(38): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0008others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0087 a0001c0001t0002g0156 a0001c0001t0002g0174 others(38): Show |
41 | 276 | 0.1486 | 10 | c.938 others(29): Show |
TMTC1 | ENSG00000133687.16 | transcript | ENST00000539277.6 | protein_coding | 5/17 | chr12 | TogoVar | |||||||
TMTC1_chr12_29495840_29788942 | 29727782 | A | AGTTTTTT others(3): Show |
intron_variant | MODIFIER | HG01496.hp2 HG01884.hp1 HG01993.hp2 others(13): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0034others(10): Show | a0001c0001t0001g0175 a0001c0001t0006g0052 a0001c0001t0034g0098 others(13): Show |
16 | 276 | 0.0580 | 10 | c.938 others(29): Show |
TMTC1 | ENSG00000133687.16 | transcript | ENST00000539277.6 | protein_coding | 5/17 | chr12 | TogoVar | |||||||
TMTC1_chr12_29495840_29788942 | 29750062 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | HG02698.hp2 HG02965.hp2 HG03139.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0016a0001c0001t0036others(7): Show | a0001c0001t0001g0147 a0001c0001t0016g0137 a0001c0001t0036g0115 others(8): Show |
11 | 276 | 0.0399 | 10 | c.938 others(27): Show |
TMTC1 | ENSG00000133687.16 | transcript | ENST00000539277.6 | protein_coding | 5/17 | chr12 | TogoVar | |||||||
TMTC1_chr12_29495840_29788942 | 29752128 | A | AACACACA others(3): Show |
intron_variant | MODIFIER | HG00544.hp2 HG02056.hp1 HG02083.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0008others(1): Show | a0001c0001t0005a0001c0005t0010a0001c0008t0032others(1): Show | a0001c0001t0005g0153 a0001c0005t0010g0106 a0001c0008t0032g0125 others(1): Show |
4 | 276 | 0.0145 | 10 | c.732 others(25): Show |
TMTC1 | ENSG00000133687.16 | transcript | ENST00000539277.6 | protein_coding | 4/17 | chr12 | TogoVar | |||||||
TMTC2_chr12_82681906_83139866 | 82719085 | A | ATATATTT others(3): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0005 | a0001c0005t0026 | a0001c0005t0026g0003 | 1 | 96 | 0.0104 | 10 | c.83+ others(27): Show |
TMTC2 | ENSG00000179104.9 | transcript | ENST00000321196.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMTC2_chr12_82681906_83139866 | 82783290 | C | CTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02809.hp1 HG02818.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0002a0001c0001t0031a0003c0006t0003 | a0001c0001t0002g0038 a0001c0001t0002g0089 a0001c0001t0031g0014 others(1): Show |
4 | 96 | 0.0417 | 10 | c.84- others(27): Show |
TMTC2 | ENSG00000179104.9 | transcript | ENST00000321196.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |