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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
THSD4_chr15_71110471_71788383 | 71377871 | C | CACACACA others(35): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0016 | a0001c0016t0002 | a0001c0016t0002g0072 | 1 | 116 | 0.0086 | 42 | c.101 others(63): Show |
THSD4 | ENSG00000187720.15 | transcript | ENST00000261862.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
THSD4_chr15_71110471_71788383 | 71724287 | A | ATATATAT others(35): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0060 | 1 | 116 | 0.0086 | 42 | c.135 others(61): Show |
THSD4 | ENSG00000187720.15 | transcript | ENST00000261862.8 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
THSD7A_chr7_11365365_11837198 | 11769153 | A | ATATATAT others(35): Show |
intron_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0053 | a0001c0053t0010 | a0001c0053t0010g0166 | 1 | 180 | 0.0056 | 42 | c.190 others(61): Show |
THSD7A | ENSG00000005108.17 | transcript | ENST00000423059.9 | protein_coding | 1/27 | chr7 | TogoVar | ||||||
THSD7B_chr2_136760545_137682718 | 136802639 | T | TTATATAT others(35): Show |
intron_variant | MODIFIER | NA18993.hp2 | a0004 | a0004c0055 | a0004c0055t0003 | a0004c0055t0003g0076 | 1 | 98 | 0.0102 | 42 | c.-36 others(61): Show |
THSD7B | ENSG00000144229.13 | transcript | ENST00000409968.6 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
THSD7B_chr2_136760545_137682718 | 137211350 | A | ACACACAC others(35): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0039 | 1 | 98 | 0.0102 | 42 | c.172 others(63): Show |
THSD7B | ENSG00000144229.13 | transcript | ENST00000409968.6 | protein_coding | 7/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
THSD7B_chr2_136760545_137682718 | 137303674 | A | ATATATAT others(35): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0003 | a0003c0025 | a0003c0025t0001 | a0003c0025t0001g0006 | 1 | 98 | 0.0102 | 42 | c.250 others(63): Show |
THSD7B | ENSG00000144229.13 | transcript | ENST00000409968.6 | protein_coding | 12/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TH_chr11_2158929_2176815 | 2161706 | C | CACCCCTG others(35): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 HG00735.hp1 HG01099.hp2 others(40): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0006others(1): Show | a0001c0002t0001a0001c0003t0001a0001c0006t0001others(1): Show | a0001c0002t0001g0003a0001c0002t0001g0005a0001c0002t0001g0033others(10): Show | 43 | 388 | 0.1108 | 42 | c.*25 others(53): Show |
TH | ENSG00000180176.15 | transcript | ENST00000352909.8 | protein_coding | 2222 | chr11 | TogoVar | ||||||
TH_chr11_2158929_2176815 | 2161751 | C | CCCCTGTC others(35): Show |
downstream_gene_variant | MODIFIER | NA19054.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 388 | 0.0026 | 42 | c.*24 others(53): Show |
TH | ENSG00000180176.15 | transcript | ENST00000352909.8 | protein_coding | 2177 | chr11 | TogoVar | ||||||
TH_chr11_2158929_2176815 | 2161805 | C | CACCCCTG others(35): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0009 | 1 | 388 | 0.0026 | 42 | c.*24 others(53): Show |
TH | ENSG00000180176.15 | transcript | ENST00000352909.8 | protein_coding | 2123 | chr11 | TogoVar | ||||||
TH_chr11_2158929_2176815 | 2161903 | A | ACACCCCT others(35): Show |
downstream_gene_variant | MODIFIER | HG02280.hp1 HG02818.hp2 HG03540.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0009a0001c0002t0001g0084 | 3 | 388 | 0.0077 | 42 | c.*23 others(53): Show |
TH | ENSG00000180176.15 | transcript | ENST00000352909.8 | protein_coding | 2025 | chr11 | TogoVar | ||||||
TH_chr11_2158929_2176815 | 2161962 | G | GACCCCTG others(35): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 HG01070.hp1 HG02257.hp1 others(5): Show |
a0001 | a0001c0005a0001c0018 | a0001c0005t0001a0001c0018t0001 | a0001c0005t0001g0012a0001c0005t0001g0075a0001c0018t0001g0103 | 8 | 388 | 0.0206 | 42 | c.*22 others(53): Show |
TH | ENSG00000180176.15 | transcript | ENST00000352909.8 | protein_coding | 1966 | chr11 | TogoVar | ||||||
TIAM1_chr21_31113418_31349261 | 31222707 | A | ATATATAT others(35): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0164 | 1 | 212 | 0.0047 | 42 | c.199 others(59): Show |
TIAM1 | ENSG00000156299.15 | transcript | ENST00000541036.6 | protein_coding | 8/27 | chr21 | TogoVar | ||||||
TIAM1_chr21_31113418_31349261 | 31228234 | A | AAAAAAAA others(35): Show |
intron_variant | MODIFIER | HG03195.hp2 NA21309.hp1 |
a0001 | a0001c0001a0001c0020 | a0001c0001t0002a0001c0020t0022 | a0001c0001t0002g0077a0001c0020t0022g0107 | 2 | 212 | 0.0094 | 42 | c.158 others(61): Show |
TIAM1 | ENSG00000156299.15 | transcript | ENST00000541036.6 | protein_coding | 6/27 | chr21 | TogoVar | ||||||
TIAM1_chr21_31113418_31349261 | 31228235 | A | AAAAAAAA others(35): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01106.hp2 HG02622.hp1 others(3): Show |
a0001 | a0001c0002a0001c0007 | a0001c0002t0001a0001c0002t0005a0001c0007t0002others(1): Show | a0001c0002t0001g0104a0001c0002t0001g0135a0001c0002t0005g0051others(3): Show | 6 | 212 | 0.0283 | 42 | c.158 others(61): Show |
TIAM1 | ENSG00000156299.15 | transcript | ENST00000541036.6 | protein_coding | 6/27 | chr21 | TogoVar | ||||||
TIAM2_chr6_154990315_155262723 | 155018683 | T | TCCCCCCC others(35): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 230 | 0.0044 | 42 | c.-20 others(63): Show |
TIAM2 | ENSG00000146426.19 | transcript | ENST00000682666.1 | protein_coding | 1/26 | chr6 | TogoVar | ||||||
TIAM2_chr6_154990315_155262723 | 155018686 | C | CCCCCCTC others(35): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0002 | a0001c0002t0033 | a0001c0002t0033g0005 | 1 | 230 | 0.0044 | 42 | c.-20 others(63): Show |
TIAM2 | ENSG00000146426.19 | transcript | ENST00000682666.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
TIAM2_chr6_154990315_155262723 | 155029508 | A | ATATAGTA others(35): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01081.hp2 HG01192.hp2 others(11): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0005others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(9): Show | a0001c0001t0001g0139a0001c0001t0001g0149a0001c0002t0001g0058others(11): Show | 14 | 230 | 0.0609 | 42 | c.-20 others(63): Show |
TIAM2 | ENSG00000146426.19 | transcript | ENST00000682666.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
TIAM2_chr6_154990315_155262723 | 155029513 | C | CTATATAT others(35): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02257.hp2 HG02965.hp1 |
a0001a0012a0018 | a0001c0009a0012c0060a0018c0029 | a0001c0009t0008a0012c0060t0005a0018c0029t0001 | a0001c0009t0008g0077a0012c0060t0005g0206a0018c0029t0001g0041 | 3 | 230 | 0.0130 | 42 | c.-20 others(63): Show |
TIAM2 | ENSG00000146426.19 | transcript | ENST00000682666.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
TIE1_chr1_43295982_43328108 | 43308457 | A | AGGGATTG others(35): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(293): Show |
a0001a0004a0005others(7): Show | a0001c0001a0001c0003a0001c0004others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(145): Show | 296 | 400 | 0.7400 | 42 | c.104 others(59): Show |
TIE1 | ENSG00000066056.14 | transcript | ENST00000372476.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
TIE1_chr1_43295982_43328108 | 43308460 | G | GATTGGGG others(35): Show |
intron_variant | MODIFIER | HG02559.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189a0001c0001t0001g0190 | 2 | 400 | 0.0050 | 42 | c.104 others(59): Show |
TIE1 | ENSG00000066056.14 | transcript | ENST00000372476.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
TIGD2_chr4_89106533_89119901 | 89108015 | T | TATCAGCA others(35): Show |
upstream_gene_variant | MODIFIER | NA18997.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0001 | 1 | 430 | 0.0023 | 42 | c.-47 others(53): Show |
TIGD2 | ENSG00000180346.5 | transcript | ENST00000603357.3 | protein_coding | 3517 | chr4 | TogoVar | ||||||
TIGIT_chr3_114289028_114315288 | 114303575 | A | ATATATAT others(35): Show |
intron_variant | MODIFIER | HG02818.hp2 HG02886.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0060a0001c0001t0008g0062a0001c0001t0008g0219 | 3 | 424 | 0.0071 | 42 | c.498 others(59): Show |
TIGIT | ENSG00000181847.12 | transcript | ENST00000383671.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
TIMM23B_chr10_49937053_49979850 | 49977109 | T | TCTCATAT others(35): Show |
downstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0041 | 1 | 376 | 0.0027 | 42 | c.*40 others(53): Show |
TIMM23B | ENSG00000204152.14 | transcript | ENST00000651259.3 | protein_coding | 2260 | chr10 | TogoVar | ||||||
TIMP2_chr17_78847977_78930387 | 78904091 | A | ATGTGTGT others(35): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02040.hp2 HG02965.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0232a0001c0001t0002g0143a0001c0001t0005g0165others(4): Show | 7 | 316 | 0.0222 | 42 | c.130 others(61): Show |
TIMP2 | ENSG00000035862.13 | transcript | ENST00000262768.11 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
TLDC2_chr20_36871138_36899235 | 36880070 | C | CATATATA others(35): Show |
intron_variant | MODIFIER | HG04184.hp1 NA18940.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091a0001c0001t0001g0195 | 2 | 384 | 0.0052 | 42 | c.343 others(57): Show |
TLDC2 | ENSG00000101342.10 | transcript | ENST00000217320.8 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TLDC2_chr20_36871138_36899235 | 36880070 | C | CATATATA others(35): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 384 | 0.0026 | 42 | c.343 others(57): Show |
TLDC2 | ENSG00000101342.10 | transcript | ENST00000217320.8 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TLK1_chr2_170985823_171165893 | 171103264 | T | TTATATAT others(35): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0143 | 1 | 266 | 0.0038 | 42 | c.258 others(61): Show |
TLK1 | ENSG00000198586.14 | transcript | ENST00000431350.7 | protein_coding | 2/20 | chr2 | TogoVar | ||||||
TLL1_chr4_165868237_166109457 | 165923421 | C | CTTTTTTT others(35): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0117 | 1 | 250 | 0.0040 | 42 | c.169 others(61): Show |
TLL1 | ENSG00000038295.8 | transcript | ENST00000061240.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
TLL1_chr4_165868237_166109457 | 166052965 | G | GTGTATAT others(35): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00673.hp1 others(6): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(3): Show | a0001c0001t0001g0076a0001c0001t0001g0163a0001c0001t0001g0164others(6): Show | 9 | 250 | 0.0360 | 42 | c.152 others(61): Show |
TLL1 | ENSG00000038295.8 | transcript | ENST00000061240.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
TLL1_chr4_165868237_166109457 | 166052965 | G | GTGTGTGT others(35): Show |
intron_variant | MODIFIER | HG02717.hp2 HG03195.hp2 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0015a0003c0004t0019 | a0001c0001t0015g0053a0003c0004t0019g0150 | 2 | 250 | 0.0080 | 42 | c.152 others(61): Show |
TLL1 | ENSG00000038295.8 | transcript | ENST00000061240.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
TLL1_chr4_165868237_166109457 | 166052965 | G | GTGTGTGT others(35): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02976.hp2 HG04184.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0191a0001c0001t0002g0037a0001c0001t0004g0219others(1): Show | 4 | 250 | 0.0160 | 42 | c.152 others(61): Show |
TLL1 | ENSG00000038295.8 | transcript | ENST00000061240.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
TLL1_chr4_165868237_166109457 | 166052965 | G | GTGTGTGT others(35): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0208 | 1 | 250 | 0.0040 | 42 | c.152 others(61): Show |
TLL1 | ENSG00000038295.8 | transcript | ENST00000061240.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
TLR4_chr9_117699403_117729735 | 117724889 | T | TACACACA others(35): Show |
downstream_gene_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0004 | 1 | 394 | 0.0025 | 42 | c.*10 others(55): Show |
TLR4 | ENSG00000136869.16 | transcript | ENST00000355622.8 | protein_coding | 155 | chr9 | TogoVar | ||||||
TM9SF4_chr20_32104714_32172256 | 32123866 | A | ATATATAT others(35): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0269 | 1 | 298 | 0.0034 | 42 | c.16- others(57): Show |
TM9SF4 | ENSG00000101337.16 | transcript | ENST00000398022.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TMC5_chr16_19412883_19504113 | 19438433 | A | AGAGAAGA others(35): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 336 | 0.0030 | 42 | c.-79 others(59): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 2/21 | chr16 | TogoVar | ||||||
TMC5_chr16_19412883_19504113 | 19490903 | C | CTCCCTTC others(35): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0010 | a0010c0014 | a0010c0014t0023 | a0010c0014t0023g0010 | 1 | 336 | 0.0030 | 42 | c.274 others(59): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
TMC6_chr17_78102397_78133755 | 78113573 | T | TCTCGTAG others(35): Show |
conservative_inframe_insertion | MODERATE | NA18989.hp1 | a0014 | a0014c0036 | a0014c0036t0029 | a0014c0036t0029g0412 | 1 | 444 | 0.0023 | 42 | c.228 others(51): Show |
p.Glu others(55): Show |
TMC6 | ENSG00000141524.19 | transcript | ENST00000590602.6 | protein_coding | 19/20 | 2546/8387 | 2328/2418 | 776/805 | chr17 | TogoVar | ||
TMC6_chr17_78102397_78133755 | 78115614 | G | GAGGAGCG others(35): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02083.hp2 HG02135.hp2 others(2): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0003a0001c0005t0014a0002c0002t0006others(2): Show | a0001c0001t0003g0166a0001c0005t0014g0313a0002c0002t0006g0071others(2): Show | 5 | 444 | 0.0113 | 42 | c.227 others(61): Show |
TMC6 | ENSG00000141524.19 | transcript | ENST00000590602.6 | protein_coding | 18/19 | chr17 | TogoVar | ||||||
TMC6_chr17_78102397_78133755 | 78115614 | G | GAGGGGCG others(35): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0432 | 1 | 444 | 0.0023 | 42 | c.227 others(61): Show |
TMC6 | ENSG00000141524.19 | transcript | ENST00000590602.6 | protein_coding | 18/19 | chr17 | TogoVar | ||||||
TMC6_chr17_78102397_78133755 | 78115618 | A | AGCGAAGG others(35): Show |
intron_variant | MODIFIER | HG06807.hp2 NA18968.hp2 |
a0004a0008 | a0004c0006a0008c0013 | a0004c0006t0043a0008c0013t0002 | a0004c0006t0043g0048a0008c0013t0002g0030 | 2 | 444 | 0.0045 | 42 | c.227 others(61): Show |
TMC6 | ENSG00000141524.19 | transcript | ENST00000590602.6 | protein_coding | 18/19 | chr17 | TogoVar | ||||||
TMC6_chr17_78102397_78133755 | 78115618 | A | AGCGAAGG others(35): Show |
intron_variant | MODIFIER | HG02735.hp2 HG02896.hp2 HG03490.hp1 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0009a0002c0002t0006others(1): Show | a0001c0001t0001g0005a0001c0001t0001g0329a0001c0001t0009g0016others(2): Show | 6 | 444 | 0.0135 | 42 | c.227 others(61): Show |
TMC6 | ENSG00000141524.19 | transcript | ENST00000590602.6 | protein_coding | 18/19 | chr17 | TogoVar | ||||||
TMC6_chr17_78102397_78133755 | 78115639 | G | GGCGAAGG others(35): Show |
intron_variant | MODIFIER | HG02027.hp2 HG03225.hp2 NA18943.hp1 |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0004 | a0001c0001t0004a0002c0002t0069a0005c0004t0033 | a0001c0001t0004g0272a0002c0002t0069g0422a0005c0004t0033g0197 | 3 | 444 | 0.0068 | 42 | c.227 others(61): Show |
TMC6 | ENSG00000141524.19 | transcript | ENST00000590602.6 | protein_coding | 18/19 | chr17 | TogoVar | ||||||
TMC6_chr17_78102397_78133755 | 78115681 | G | GGCGAAGG others(35): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0168 | 1 | 444 | 0.0023 | 42 | c.227 others(61): Show |
TMC6 | ENSG00000141524.19 | transcript | ENST00000590602.6 | protein_coding | 18/19 | chr17 | TogoVar | ||||||
TMC6_chr17_78102397_78133755 | 78115681 | G | GGCGAAGG others(35): Show |
intron_variant | MODIFIER | HG00099.hp1 NA19074.hp2 |
a0001a0003 | a0001c0005a0003c0003 | a0001c0005t0001a0003c0003t0003 | a0001c0005t0001g0239a0003c0003t0003g0389 | 2 | 444 | 0.0045 | 42 | c.227 others(61): Show |
TMC6 | ENSG00000141524.19 | transcript | ENST00000590602.6 | protein_coding | 18/19 | chr17 | TogoVar | ||||||
TMC6_chr17_78102397_78133755 | 78115702 | G | GGCGAAGG others(35): Show |
intron_variant | MODIFIER | HG01257.hp2 HG02040.hp1 NA19088.hp2 |
a0002a0003a0016 | a0002c0002a0003c0003a0016c0034 | a0002c0002t0002a0003c0003t0001a0016c0034t0001 | a0002c0002t0002g0075a0003c0003t0001g0399a0016c0034t0001g0205 | 3 | 444 | 0.0068 | 42 | c.227 others(61): Show |
TMC6 | ENSG00000141524.19 | transcript | ENST00000590602.6 | protein_coding | 18/19 | chr17 | TogoVar | ||||||
TMC6_chr17_78102397_78133755 | 78115723 | G | GGCGAAGG others(35): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0010 | a0010c0019 | a0010c0019t0002 | a0010c0019t0002g0069 | 1 | 444 | 0.0023 | 42 | c.227 others(61): Show |
TMC6 | ENSG00000141524.19 | transcript | ENST00000590602.6 | protein_coding | 18/19 | chr17 | TogoVar | ||||||
TMC6_chr17_78102397_78133755 | 78115744 | G | GGCGAAGG others(35): Show |
intron_variant | MODIFIER | NA19000.hp1 NA19010.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0060 | a0001c0001t0001g0171a0001c0005t0060g0190 | 2 | 444 | 0.0045 | 42 | c.227 others(61): Show |
TMC6 | ENSG00000141524.19 | transcript | ENST00000590602.6 | protein_coding | 18/19 | chr17 | TogoVar | ||||||
TMC6_chr17_78102397_78133755 | 78115786 | G | GGCGAAGG others(35): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0286 | 1 | 444 | 0.0023 | 42 | c.227 others(61): Show |
TMC6 | ENSG00000141524.19 | transcript | ENST00000590602.6 | protein_coding | 18/19 | chr17 | TogoVar | ||||||
TMC6_chr17_78102397_78133755 | 78115807 | G | GGCGAAGG others(35): Show |
intron_variant | MODIFIER | NA18991.hp1 NA21309.hp2 |
a0001a0007 | a0001c0001a0007c0007 | a0001c0001t0005a0007c0007t0002 | a0001c0001t0005g0167a0007c0007t0002g0060 | 2 | 444 | 0.0045 | 42 | c.227 others(61): Show |
TMC6 | ENSG00000141524.19 | transcript | ENST00000590602.6 | protein_coding | 18/19 | chr17 | TogoVar | ||||||
TMC6_chr17_78102397_78133755 | 78115828 | G | GGCGAAGG others(35): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0005 | a0005c0004 | a0005c0004t0003 | a0005c0004t0003g0227 | 1 | 444 | 0.0023 | 42 | c.227 others(61): Show |
TMC6 | ENSG00000141524.19 | transcript | ENST00000590602.6 | protein_coding | 18/19 | chr17 | TogoVar |