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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TMC4_chr19_54155108_54178160 | 54168972 | TTC | T | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG01168.hp2 others(35): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0011others(4): Show | a0001c0001t0001a0002c0002t0002a0002c0011t0002others(4): Show | a0001c0001t0001g0182a0002c0002t0002g0275a0002c0002t0002g0277others(34): Show | 38 | 407 | 0.0934 | -2 | c.443 others(17): Show |
TMC4 | ENSG00000167608.12 | transcript | ENST00000619895.5 | protein_coding | 3/14 | chr19 | TogoVar | ||||||
TMC4_chr19_54155108_54178160 | 54170333 | CAA | C | intron_variant | MODIFIER | HG00423.hp2 HG00733.hp2 HG01168.hp2 others(42): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0011others(4): Show | a0001c0001t0001a0002c0002t0002a0002c0011t0002others(4): Show | a0001c0001t0001g0016a0001c0001t0001g0017a0002c0002t0002g0271others(41): Show | 45 | 407 | 0.1106 | -2 | c.294 others(17): Show |
TMC4 | ENSG00000167608.12 | transcript | ENST00000619895.5 | protein_coding | 2/14 | chr19 | TogoVar | ||||||
TMC5_chr16_19412883_19504113 | 19413523 | CAA | C | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00544.hp1 others(39): Show |
a0001a0002a0012others(1): Show | a0001c0001a0002c0002a0012c0020others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0140a0001c0001t0001g0150a0001c0001t0001g0175others(39): Show | 42 | 336 | 0.1250 | -2 | c.-48 others(13): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 4359 | chr16 | TogoVar | ||||||
TMC5_chr16_19412883_19504113 | 19417418 | CAA | C | upstream_gene_variant | MODIFIER | HG01943.hp1 HG02970.hp2 HG03195.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0016 | a0001c0001t0001g0245a0001c0001t0002g0166a0001c0001t0002g0168others(3): Show | 6 | 336 | 0.0179 | -2 | c.-98 others(11): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 464 | chr16 | TogoVar | ||||||
TMC5_chr16_19412883_19504113 | 19418727 | GTT | G | intron_variant | MODIFIER | HG01109.hp2 HG01891.hp1 HG01891.hp2 others(21): Show |
a0001a0004 | a0001c0001a0001c0005a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(21): Show | 24 | 336 | 0.0714 | -2 | c.-30 others(19): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
TMC5_chr16_19412883_19504113 | 19425327 | CTT | C | intron_variant | MODIFIER | HG01884.hp2 HG02257.hp1 HG02723.hp1 others(4): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0016a0001c0001t0017a0003c0003t0002 | a0001c0001t0016g0092a0001c0001t0016g0093a0001c0001t0016g0094others(4): Show | 7 | 336 | 0.0208 | -2 | c.-30 others(21): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
TMC5_chr16_19412883_19504113 | 19427860 | TTC | T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(128): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0006c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0110a0001c0001t0001g0130a0001c0001t0001g0150others(128): Show | 131 | 336 | 0.3899 | -2 | c.-30 others(21): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
TMC5_chr16_19412883_19504113 | 19434080 | AAT | A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(242): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0009a0002c0002others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(242): Show | 245 | 336 | 0.7292 | -2 | c.-80 others(19): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
TMC5_chr16_19412883_19504113 | 19434189 | AAT | A | intron_variant | MODIFIER | HG00323.hp2 HG00597.hp2 HG00609.hp2 others(134): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0009others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0097a0001c0001t0001g0100a0001c0001t0001g0111others(134): Show | 137 | 336 | 0.4077 | -2 | c.-80 others(19): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
TMC5_chr16_19412883_19504113 | 19434223 | CTA | C | intron_variant | MODIFIER | HG00323.hp2 HG01099.hp1 HG01109.hp2 others(29): Show |
a0001a0010 | a0001c0001a0001c0005a0010c0014 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0097a0001c0001t0001g0100a0001c0001t0001g0111others(29): Show | 32 | 336 | 0.0952 | -2 | c.-80 others(19): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
TMC5_chr16_19412883_19504113 | 19435335 | CAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(261): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0005a0001c0009others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(261): Show | 264 | 336 | 0.7857 | -2 | c.-79 others(19): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
TMC5_chr16_19412883_19504113 | 19435584 | TAC | T | intron_variant | MODIFIER | HG00597.hp2 HG00735.hp2 HG00738.hp2 others(65): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0009a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0117a0001c0001t0001g0254a0001c0001t0001g0300others(65): Show | 68 | 336 | 0.2024 | -2 | c.-79 others(19): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
TMC5_chr16_19412883_19504113 | 19438407 | AAG | A | intron_variant | MODIFIER | HG00735.hp2 HG01891.hp2 HG02572.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0005a0002c0002t0001others(1): Show | a0001c0001t0004g0037a0001c0001t0004g0061a0001c0001t0004g0105others(3): Show | 6 | 336 | 0.0179 | -2 | c.-79 others(19): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
TMC5_chr16_19412883_19504113 | 19442325 | ATT | A | intron_variant | MODIFIER | HG00140.hp2 HG00597.hp1 HG00733.hp2 others(29): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0009a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0097a0001c0001t0001g0100a0001c0001t0001g0265others(29): Show | 32 | 336 | 0.0952 | -2 | c.788 others(19): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
TMC5_chr16_19412883_19504113 | 19448304 | GCA | G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(177): Show |
a0001a0002a0007others(2): Show | a0001c0001a0001c0005a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(177): Show | 180 | 336 | 0.5357 | -2 | c.959 others(19): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
TMC5_chr16_19412883_19504113 | 19457709 | CTT | C | intron_variant | MODIFIER | HG01074.hp2 HG01975.hp1 HG02258.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0140a0001c0001t0003g0034a0001c0001t0003g0255others(10): Show | 13 | 336 | 0.0387 | -2 | c.104 others(21): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
TMC5_chr16_19412883_19504113 | 19465033 | TTC | T | intron_variant | MODIFIER | HG00140.hp2 HG00733.hp2 HG02965.hp2 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0002a0003c0003t0015 | a0003c0003t0002g0063a0003c0003t0002g0281a0003c0003t0015g0282others(1): Show | 4 | 336 | 0.0119 | -2 | c.148 others(21): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
TMC5_chr16_19412883_19504113 | 19465058 | TTC | T | intron_variant | MODIFIER | HG00735.hp1 HG00741.hp1 HG01069.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0002g0077others(11): Show | 14 | 336 | 0.0417 | -2 | c.148 others(21): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 8/21 | chr16 | TogoVar | ||||||
TMC5_chr16_19412883_19504113 | 19465063 | TCC | T | intron_variant | MODIFIER | HG00735.hp1 HG00741.hp1 HG01069.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0002g0077others(11): Show | 14 | 336 | 0.0417 | -2 | c.148 others(21): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 8/21 | chr16 | TogoVar | ||||||
TMC5_chr16_19412883_19504113 | 19465083 | TCC | T | intron_variant | MODIFIER | HG01884.hp2 HG02257.hp1 HG02723.hp1 others(2): Show |
a0001a0002a0010 | a0001c0001a0002c0002a0010c0014 | a0001c0001t0017a0002c0002t0006a0010c0014t0023 | a0001c0001t0017g0121a0001c0001t0017g0122a0001c0001t0017g0123others(2): Show | 5 | 336 | 0.0149 | -2 | c.148 others(19): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 8/21 | chr16 | TogoVar | ||||||
TMC5_chr16_19412883_19504113 | 19465087 | TCC | T | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp2 HG01975.hp1 others(35): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0002c0021others(2): Show | a0001c0001t0004a0002c0002t0001a0002c0002t0002others(4): Show | a0001c0001t0004g0126a0001c0001t0004g0142a0001c0001t0004g0220others(35): Show | 38 | 336 | 0.1131 | -2 | c.148 others(19): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 8/21 | chr16 | TogoVar | ||||||
TMC5_chr16_19412883_19504113 | 19469898 | CTT | C | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00423.hp2 others(147): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0005a0001c0009others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(21): Show | a0001c0001t0001g0111a0001c0001t0001g0175a0001c0001t0001g0209others(147): Show | 150 | 336 | 0.4464 | -2 | c.178 others(17): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
TMC5_chr16_19412883_19504113 | 19470721 | TAA | T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(72): Show |
a0001a0004a0007 | a0001c0001a0001c0007a0004c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0004a0001c0001t0001g0008a0001c0001t0001g0009others(72): Show | 75 | 336 | 0.2232 | -2 | c.178 others(19): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
TMC5_chr16_19412883_19504113 | 19478578 | CCA | C | intron_variant | MODIFIER | HG01109.hp2 HG01884.hp1 HG01891.hp1 others(6): Show |
a0001a0008 | a0001c0001a0008c0013 | a0001c0001t0009a0008c0013t0009 | a0001c0001t0009g0095a0001c0001t0009g0101a0001c0001t0009g0102others(6): Show | 9 | 336 | 0.0268 | -2 | c.217 others(19): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 13/21 | chr16 | TogoVar | ||||||
TMC5_chr16_19412883_19504113 | 19480804 | CAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp2 HG00733.hp2 others(84): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0005a0001c0009others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(20): Show | a0001c0001t0001g0310a0001c0001t0002g0174a0001c0001t0004g0018others(84): Show | 87 | 336 | 0.2589 | -2 | c.226 others(19): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
TMC5_chr16_19412883_19504113 | 19489644 | ATT | A | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG00733.hp2 others(56): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0009others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(16): Show | a0001c0001t0001g0290a0001c0001t0002g0145a0001c0001t0002g0251others(56): Show | 59 | 336 | 0.1756 | -2 | c.257 others(19): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
TMC5_chr16_19412883_19504113 | 19493445 | GTC | G | intron_variant | MODIFIER | HG02630.hp2 HG02647.hp2 HG02896.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0020a0001c0001t0027 | a0001c0001t0014g0051a0001c0001t0014g0113a0001c0001t0014g0125others(3): Show | 6 | 336 | 0.0179 | -2 | c.282 others(19): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
TMC5_chr16_19412883_19504113 | 19496887 | CAA | C | intron_variant | MODIFIER | HG00639.hp1 HG01358.hp1 HG01361.hp1 others(8): Show |
a0001a0002a0016 | a0001c0001a0001c0009a0002c0002others(1): Show | a0001c0001t0004a0001c0009t0018a0002c0002t0001others(2): Show | a0001c0001t0004g0018a0001c0001t0004g0115a0001c0001t0004g0119others(8): Show | 11 | 336 | 0.0327 | -2 | c.293 others(19): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
TMC5_chr16_19412883_19504113 | 19501299 | CTT | C | downstream_gene_variant | MODIFIER | HG01361.hp1 HG02055.hp2 HG02486.hp2 others(17): Show |
a0001a0002a0004 | a0001c0001a0001c0009a0002c0021others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(8): Show | a0001c0001t0002g0065a0001c0001t0002g0146a0001c0001t0002g0160others(17): Show | 20 | 336 | 0.0595 | -2 | c.*33 others(13): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 2187 | chr16 | TogoVar | ||||||
TMC6_chr17_78102397_78133755 | 78105634 | AGT | A | downstream_gene_variant | MODIFIER | HG02258.hp2 HG02486.hp1 HG02622.hp2 others(9): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0006others(2): Show | a0001c0001t0007a0002c0002t0007a0002c0002t0052others(3): Show | a0001c0001t0007g0081a0002c0002t0007g0107a0002c0002t0007g0108others(9): Show | 12 | 444 | 0.0270 | -2 | c.*75 others(13): Show |
TMC6 | ENSG00000141524.19 | transcript | ENST00000590602.6 | protein_coding | 1762 | chr17 | TogoVar | ||||||
TMC6_chr17_78102397_78133755 | 78108492 | CTG | C | 3_prime_UTR_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00544.hp2 others(45): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0005a0001c0033others(8): Show | a0001c0001t0004a0001c0001t0011a0001c0001t0017others(19): Show | a0001c0001t0004g0161a0001c0001t0004g0249a0001c0001t0004g0250others(45): Show | 48 | 444 | 0.1081 | -2 | c.*46 others(13): Show |
TMC6 | ENSG00000141524.19 | transcript | ENST00000590602.6 | protein_coding | 20/20 | 4654 | chr17 | TogoVar | |||||
TMC6_chr17_78102397_78133755 | 78120152 | CTT | C | intron_variant | MODIFIER | HG01106.hp1 HG01433.hp1 HG06807.hp2 others(4): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0002c0002others(4): Show | a0001c0001t0068a0001c0005t0072a0002c0002t0002others(4): Show | a0001c0001t0068g0253a0001c0005t0072g0299a0002c0002t0002g0093others(4): Show | 7 | 444 | 0.0158 | -2 | c.171 others(19): Show |
TMC6 | ENSG00000141524.19 | transcript | ENST00000590602.6 | protein_coding | 13/19 | chr17 | TogoVar | ||||||
TMC6_chr17_78102397_78133755 | 78121820 | AAC | A | intron_variant | MODIFIER | HG01884.hp2 HG02109.hp2 HG02615.hp1 others(8): Show |
a0002a0004a0008 | a0002c0002a0004c0006a0008c0013 | a0002c0002t0015a0004c0006t0007a0004c0006t0010others(4): Show | a0002c0002t0015g0236a0004c0006t0007g0035a0004c0006t0007g0036others(8): Show | 11 | 444 | 0.0248 | -2 | c.122 others(19): Show |
TMC6 | ENSG00000141524.19 | transcript | ENST00000590602.6 | protein_coding | 10/19 | chr17 | TogoVar | ||||||
TMC6_chr17_78102397_78133755 | 78128798 | CGG | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(114): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0001c0017others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(53): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(112): Show | 117 | 444 | 0.2635 | -2 | c.-26 others(11): Show |
TMC6 | ENSG00000141524.19 | transcript | ENST00000590602.6 | protein_coding | 44 | chr17 | TogoVar | ||||||
TMC6_chr17_78102397_78133755 | 78129113 | AGC | A | upstream_gene_variant | MODIFIER | HG01070.hp1 HG01074.hp2 HG01192.hp2 others(29): Show |
a0001a0004a0008 | a0001c0001a0004c0006a0004c0011others(3): Show | a0001c0001t0001a0004c0006t0002a0004c0006t0006others(13): Show | a0001c0001t0001g0263a0004c0006t0002g0019a0004c0006t0002g0020others(29): Show | 32 | 444 | 0.0721 | -2 | c.-57 others(11): Show |
TMC6 | ENSG00000141524.19 | transcript | ENST00000590602.6 | protein_coding | 359 | chr17 | TogoVar | ||||||
TMC7_chr16_18978934_19068942 | 18982215 | CTT | C | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(111): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0002c0013others(3): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(16): Show | a0001c0001t0001g0039a0001c0001t0001g0062a0001c0001t0001g0069others(110): Show | 114 | 282 | 0.4043 | -2 | c.-18 others(13): Show |
TMC7 | ENSG00000170537.13 | transcript | ENST00000304381.10 | protein_coding | 1718 | chr16 | TogoVar | ||||||
TMC7_chr16_18978934_19068942 | 18985698 | GTT | G | intron_variant | MODIFIER | HG01081.hp2 HG01884.hp2 HG02615.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0007a0001c0001t0026a0002c0003t0009 | a0001c0001t0007g0204a0001c0001t0007g0205a0001c0001t0007g0206others(3): Show | 6 | 282 | 0.0213 | -2 | c.67+ others(17): Show |
TMC7 | ENSG00000170537.13 | transcript | ENST00000304381.10 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
TMC7_chr16_18978934_19068942 | 18997729 | CTT | C | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00639.hp1 others(74): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0005a0001c0009others(5): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(10): Show | a0001c0001t0001g0002a0001c0001t0001g0080a0001c0001t0001g0114others(73): Show | 77 | 282 | 0.2731 | -2 | c.68- others(19): Show |
TMC7 | ENSG00000170537.13 | transcript | ENST00000304381.10 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
TMC7_chr16_18978934_19068942 | 18998753 | CAA | C | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00639.hp1 others(76): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0005a0001c0009others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(8): Show | a0001c0001t0001g0002a0001c0001t0001g0074a0001c0001t0001g0075others(75): Show | 79 | 282 | 0.2801 | -2 | c.68- others(19): Show |
TMC7 | ENSG00000170537.13 | transcript | ENST00000304381.10 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
TMC7_chr16_18978934_19068942 | 19004041 | TTA | T | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(96): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0006a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(22): Show | a0001c0001t0001g0039a0001c0001t0001g0062a0001c0001t0001g0069others(96): Show | 99 | 282 | 0.3511 | -2 | c.68- others(17): Show |
TMC7 | ENSG00000170537.13 | transcript | ENST00000304381.10 | protein_coding | 1/15 | chr16 | TogoVar | ||||||
TMC7_chr16_18978934_19068942 | 19004042 | TAA | T | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00639.hp1 others(73): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0005a0001c0009others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(8): Show | a0001c0001t0001g0002a0001c0001t0001g0075a0001c0001t0001g0076others(72): Show | 76 | 282 | 0.2695 | -2 | c.68- others(17): Show |
TMC7 | ENSG00000170537.13 | transcript | ENST00000304381.10 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
TMC7_chr16_18978934_19068942 | 19011699 | CAG | C | intron_variant | MODIFIER | HG00738.hp2 HG01074.hp2 NA20129.hp2 others(1): Show |
a0001 | a0001c0006 | a0001c0006t0006a0001c0006t0018a0001c0006t0034 | a0001c0006t0006g0179a0001c0006t0018g0155a0001c0006t0018g0156others(1): Show | 4 | 282 | 0.0142 | -2 | c.311 others(19): Show |
TMC7 | ENSG00000170537.13 | transcript | ENST00000304381.10 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
TMC7_chr16_18978934_19068942 | 19012129 | CAA | C | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp2 HG02717.hp1 others(10): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(3): Show | a0001c0001t0001g0180a0001c0001t0001g0181a0001c0001t0001g0182others(10): Show | 13 | 282 | 0.0461 | -2 | c.311 others(19): Show |
TMC7 | ENSG00000170537.13 | transcript | ENST00000304381.10 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
TMC7_chr16_18978934_19068942 | 19012788 | CAA | C | intron_variant | MODIFIER | HG00642.hp2 HG01981.hp1 HG02056.hp2 others(4): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0002others(2): Show | a0001c0001t0001g0270a0001c0001t0003g0014a0002c0002t0002g0056others(4): Show | 7 | 282 | 0.0248 | -2 | c.311 others(19): Show |
TMC7 | ENSG00000170537.13 | transcript | ENST00000304381.10 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
TMC7_chr16_18978934_19068942 | 19017667 | GTT | G | intron_variant | MODIFIER | HG00639.hp1 HG02258.hp2 HG02486.hp1 others(5): Show |
a0001a0004 | a0001c0001a0004c0008a0004c0011others(1): Show | a0001c0001t0001a0004c0008t0022a0004c0008t0025others(2): Show | a0001c0001t0001g0225a0001c0001t0001g0231a0001c0001t0001g0232others(5): Show | 8 | 282 | 0.0284 | -2 | c.460 others(19): Show |
TMC7 | ENSG00000170537.13 | transcript | ENST00000304381.10 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
TMC7_chr16_18978934_19068942 | 19029647 | TTA | T | intron_variant | MODIFIER | HG02717.hp1 HG02818.hp2 HG03041.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180a0001c0001t0001g0181a0001c0001t0001g0182others(2): Show | 5 | 282 | 0.0177 | -2 | c.712 others(17): Show |
TMC7 | ENSG00000170537.13 | transcript | ENST00000304381.10 | protein_coding | 5/15 | chr16 | TogoVar | ||||||
TMC7_chr16_18978934_19068942 | 19032547 | TAA | T | intron_variant | MODIFIER | HG00423.hp1 HG00639.hp1 HG00673.hp2 others(78): Show |
a0001a0008a0009 | a0001c0001a0001c0005a0001c0009others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(7): Show | a0001c0001t0001g0002a0001c0001t0001g0039a0001c0001t0001g0062others(77): Show | 81 | 282 | 0.2872 | -2 | c.857 others(19): Show |
TMC7 | ENSG00000170537.13 | transcript | ENST00000304381.10 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
TMC7_chr16_18978934_19068942 | 19034426 | GTC | G | intron_variant | MODIFIER | HG01074.hp1 HG01109.hp1 HG01496.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0114a0001c0001t0001g0131a0001c0001t0001g0132others(24): Show | 27 | 282 | 0.0957 | -2 | c.858 others(19): Show |
TMC7 | ENSG00000170537.13 | transcript | ENST00000304381.10 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
TMC7_chr16_18978934_19068942 | 19037402 | AAG | A | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00639.hp1 others(81): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0005a0001c0009others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(8): Show | a0001c0001t0001g0002a0001c0001t0001g0039a0001c0001t0001g0062others(80): Show | 84 | 282 | 0.2979 | -2 | c.100 others(19): Show |
TMC7 | ENSG00000170537.13 | transcript | ENST00000304381.10 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
TMC7_chr16_18978934_19068942 | 19040115 | CAA | C | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00639.hp1 others(78): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0009a0001c0017others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(8): Show | a0001c0001t0001g0002a0001c0001t0001g0039a0001c0001t0001g0062others(77): Show | 81 | 282 | 0.2872 | -2 | c.118 others(19): Show |
TMC7 | ENSG00000170537.13 | transcript | ENST00000304381.10 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |