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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TFCP2_chr12_51088656_51178135 | 51091621 | GTGTGTGT others(5): Show |
G | downstream_gene_variant | MODIFIER | HG02976.hp1 HG03130.hp2 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0204 a0001c0001t0021g0205 a0001c0001t0021g0206 |
3 | 348 | 0.0086 | -12 | c.*36 others(23): Show |
TFCP2 | ENSG00000135457.11 | transcript | ENST00000257915.10 | protein_coding | 2034 | chr12 | TogoVar | |||||||
TFCP2_chr12_51088656_51178135 | 51155670 | TATAATCC others(5): Show |
T | intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 348 | 0.0029 | -12 | c.122 others(31): Show |
TFCP2 | ENSG00000135457.11 | transcript | ENST00000257915.10 | protein_coding | 1/14 | chr12 | TogoVar | |||||||
TFCP2_chr12_51088656_51178135 | 51173870 | CAAAAAAA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00597.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(3): Show | a0001c0001t0003g0066 a0001c0001t0003g0071 a0001c0001t0003g0077 others(21): Show |
24 | 348 | 0.0690 | -12 | c.-14 others(23): Show |
TFCP2 | ENSG00000135457.11 | transcript | ENST00000257915.10 | protein_coding | 736 | chr12 | TogoVar | |||||||
TFDP1_chr13_113579753_113646473 | 113585489 | GCTCGGCC others(5): Show |
G | intron_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0294 | 1 | 348 | 0.0029 | -12 | c.-64 others(27): Show |
TFDP1 | ENSG00000198176.13 | transcript | ENST00000375370.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
TFDP1_chr13_113579753_113646473 | 113613528 | TGAGTGTG others(5): Show |
T | intron_variant | MODIFIER | HG02451.hp2 HG02486.hp1 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 a0001c0001t0001g0046 a0001c0001t0001g0047 |
3 | 348 | 0.0086 | -12 | c.79+ others(27): Show |
TFDP1 | ENSG00000198176.13 | transcript | ENST00000375370.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
TFDP2_chr3_141939428_142154544 | 141968423 | CTCATATA others(5): Show |
C | intron_variant | MODIFIER | HG02735.hp2 HG03491.hp1 NA18956.hp1 |
a0001 | a0001c0001 | a0001c0001t0040a0001c0001t0044a0001c0001t0053 | a0001c0001t0040g0023 a0001c0001t0044g0016 a0001c0001t0053g0186 |
3 | 252 | 0.0119 | -12 | c.732 others(29): Show |
TFDP2 | ENSG00000114126.18 | transcript | ENST00000489671.6 | protein_coding | 9/12 | chr3 | TogoVar | |||||||
TFDP2_chr3_141939428_142154544 | 141977100 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0108 | a0001c0001t0108g0035 | 1 | 252 | 0.0040 | -12 | c.519 others(29): Show |
TFDP2 | ENSG00000114126.18 | transcript | ENST00000489671.6 | protein_coding | 7/12 | chr3 | TogoVar | |||||||
TFDP2_chr3_141939428_142154544 | 142061889 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG01081.hp2 HG02615.hp2 HG03130.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0037a0001c0001t0056others(2): Show | a0001c0001t0004g0232 a0001c0001t0037g0004 a0001c0001t0056g0030 others(2): Show |
5 | 252 | 0.0198 | -12 | c.82+ others(29): Show |
TFDP2 | ENSG00000114126.18 | transcript | ENST00000489671.6 | protein_coding | 3/12 | chr3 | TogoVar | |||||||
TFEB_chr6_41678978_41740608 | 41709529 | GTGGATGG others(5): Show |
G | intron_variant | MODIFIER | HG01168.hp2 HG01884.hp1 HG01891.hp2 others(21): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0013others(5): Show | a0001c0001t0001g0025 a0001c0001t0001g0113 a0001c0001t0001g0114 others(20): Show |
24 | 406 | 0.0591 | -12 | c.-22 others(31): Show |
TFEB | ENSG00000112561.19 | transcript | ENST00000373033.6 | protein_coding | 1/8 | chr6 | TogoVar | |||||||
TFEB_chr6_41678978_41740608 | 41723400 | TTCACACA others(5): Show |
T | intron_variant | MODIFIER | HG02630.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 a0001c0001t0001g0114 |
2 | 406 | 0.0049 | -12 | c.-23 others(31): Show |
TFEB | ENSG00000112561.19 | transcript | ENST00000373033.6 | protein_coding | 1/8 | chr6 | TogoVar | |||||||
TFEB_chr6_41678978_41740608 | 41735504 | CCGCCGCC others(5): Show |
C | 5_prime_UTR_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0354 | 1 | 406 | 0.0025 | -12 | c.-18 others(21): Show |
TFEB | ENSG00000112561.19 | transcript | ENST00000373033.6 | protein_coding | 1/9 | 44292 | chr6 | TogoVar | ||||||
TFEB_chr6_41678978_41740608 | 41738227 | CATATATA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG00733.hp2 HG03041.hp1 NA18941.hp2 others(1): Show |
a0001 | a0001c0002a0001c0003a0001c0004 | a0001c0002t0001a0001c0003t0001a0001c0004t0002 | a0001c0002t0001g0155 a0001c0003t0001g0160 a0001c0004t0002g0124 others(1): Show |
4 | 406 | 0.0099 | -12 | c.-29 others(23): Show |
TFEB | ENSG00000112561.19 | transcript | ENST00000373033.6 | protein_coding | 2620 | chr6 | TogoVar | |||||||
TFEC_chr7_115930152_116035763 | 115943145 | TCAATGGA others(5): Show |
T | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0170 | 1 | 394 | 0.0025 | -12 | c.516 others(29): Show |
TFEC | ENSG00000105967.16 | transcript | ENST00000265440.12 | protein_coding | 6/7 | chr7 | TogoVar | |||||||
TFEC_chr7_115930152_116035763 | 115944013 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0131 | 1 | 394 | 0.0025 | -12 | c.516 others(29): Show |
TFEC | ENSG00000105967.16 | transcript | ENST00000265440.12 | protein_coding | 6/7 | chr7 | TogoVar | |||||||
TFEC_chr7_115930152_116035763 | 115974406 | TTATATAT others(5): Show |
T | intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0308 | 1 | 394 | 0.0025 | -12 | c.181 others(27): Show |
TFEC | ENSG00000105967.16 | transcript | ENST00000265440.12 | protein_coding | 2/7 | chr7 | TogoVar | |||||||
TFEC_chr7_115930152_116035763 | 115974439 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00733.hp2 HG01255.hp1 others(2): Show |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0001a0001c0001t0004a0004c0008t0023 | a0001c0001t0001g0097 a0001c0001t0004g0009 a0001c0001t0004g0295 others(1): Show |
5 | 394 | 0.0127 | -12 | c.181 others(27): Show |
TFEC | ENSG00000105967.16 | transcript | ENST00000265440.12 | protein_coding | 2/7 | chr7 | TogoVar | |||||||
TFF2_chr21_42341357_42355994 | 42342752 | CATTATTA others(5): Show |
C | downstream_gene_variant | MODIFIER | HG02055.hp1 HG02145.hp2 HG02559.hp2 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0003 a0001c0001t0002g0017 a0001c0001t0002g0035 others(4): Show |
9 | 454 | 0.0198 | -12 | c.*37 others(23): Show |
TFF2 | ENSG00000160181.9 | transcript | ENST00000291526.5 | protein_coding | 3604 | chr21 | TogoVar | |||||||
TFIP11_chr22_26486240_26517473 | 26505696 | CTATTTAT others(5): Show |
C | intron_variant | MODIFIER | HG02155.hp2 HG02280.hp2 HG03209.hp2 others(1): Show |
a0001a0007 | a0001c0001a0007c0021 | a0001c0001t0001a0007c0021t0001 | a0001c0001t0001g0232 a0001c0001t0001g0282 a0001c0001t0001g0283 others(1): Show |
4 | 420 | 0.0095 | -12 | c.520 others(27): Show |
TFIP11 | ENSG00000100109.17 | transcript | ENST00000407690.6 | protein_coding | 6/14 | chr22 | TogoVar | |||||||
TFPI2_chr7_93880396_93895753 | 93888544 | AGAAGGAA others(5): Show |
A | intron_variant | MODIFIER | HG03098.hp1 NA19079.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 a0001c0001t0001g0099 |
2 | 430 | 0.0047 | -12 | c.460 others(27): Show |
TFPI2 | ENSG00000105825.14 | transcript | ENST00000222543.11 | protein_coding | 3/4 | chr7 | TogoVar | |||||||
TFPI2_chr7_93880396_93895753 | 93895002 | CAGAATTT others(5): Show |
C | upstream_gene_variant | MODIFIER | NA18988.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 430 | 0.0023 | -12 | c.-43 others(23): Show |
TFPI2 | ENSG00000105825.14 | transcript | ENST00000222543.11 | protein_coding | 4250 | chr7 | TogoVar | |||||||
TFPI_chr2_187459230_187559435 | 187465704 | GTCATGAA others(5): Show |
G | 3_prime_UTR_variant | MODIFIER | HG01255.hp1 HG01256.hp2 HG02074.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0026 | a0001c0001t0004g0005 a0001c0001t0004g0007 a0001c0001t0004g0020 others(10): Show |
17 | 344 | 0.0494 | -12 | c.*12 others(23): Show |
TFPI | ENSG00000003436.16 | transcript | ENST00000233156.9 | protein_coding | 8/8 | 1220 | chr2 | TogoVar | ||||||
TFPI_chr2_187459230_187559435 | 187468258 | GACACACA others(5): Show |
G | intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 344 | 0.0029 | -12 | c.629 others(27): Show |
TFPI | ENSG00000003436.16 | transcript | ENST00000233156.9 | protein_coding | 6/7 | chr2 | TogoVar | |||||||
TFPI_chr2_187459230_187559435 | 187479546 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00558.hp2 others(55): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0033 others(53): Show |
58 | 344 | 0.1686 | -12 | c.628 others(29): Show |
TFPI | ENSG00000003436.16 | transcript | ENST00000233156.9 | protein_coding | 6/7 | chr2 | TogoVar | |||||||
TFPI_chr2_187459230_187559435 | 187503462 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0169 | 1 | 344 | 0.0029 | -12 | c.121 others(27): Show |
TFPI | ENSG00000003436.16 | transcript | ENST00000233156.9 | protein_coding | 2/7 | chr2 | TogoVar | |||||||
TFPI_chr2_187459230_187559435 | 187522891 | AAAATAAA others(5): Show |
A | intron_variant | MODIFIER | NA18747.hp1 NA18961.hp1 NA18975.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0030others(1): Show | a0001c0001t0002g0271 a0001c0001t0003g0131 a0001c0001t0003g0289 others(2): Show |
5 | 344 | 0.0145 | -12 | c.-2- others(29): Show |
TFPI | ENSG00000003436.16 | transcript | ENST00000233156.9 | protein_coding | 1/7 | chr2 | TogoVar | |||||||
TFPI_chr2_187459230_187559435 | 187545481 | CAGGAAAT others(5): Show |
C | intron_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 344 | 0.0029 | -12 | c.-3+ others(27): Show |
TFPI | ENSG00000003436.16 | transcript | ENST00000233156.9 | protein_coding | 1/7 | chr2 | TogoVar | |||||||
TFRC_chr3_196044284_196087090 | 196057792 | AAAAAAAC others(5): Show |
A | intron_variant | MODIFIER | HG02922.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 2 | 384 | 0.0052 | -12 | c.167 others(29): Show |
TFRC | ENSG00000072274.14 | transcript | ENST00000360110.9 | protein_coding | 16/18 | chr3 | TogoVar | |||||||
TFRC_chr3_196044284_196087090 | 196070774 | AAATAATA others(5): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00438.hp1 others(92): Show |
a0001a0002a0004 | a0001c0001a0001c0013a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0013a0001c0001t0018others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(83): Show |
95 | 384 | 0.2474 | -12 | c.687 others(27): Show |
TFRC | ENSG00000072274.14 | transcript | ENST00000360110.9 | protein_coding | 6/18 | chr3 | TogoVar | |||||||
TFRC_chr3_196044284_196087090 | 196084398 | AAAAAAAA others(5): Show |
A | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00438.hp1 others(111): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0013a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(98): Show |
114 | 384 | 0.2969 | -12 | c.-23 others(23): Show |
TFRC | ENSG00000072274.14 | transcript | ENST00000360110.9 | protein_coding | 2309 | chr3 | TogoVar | |||||||
TF_chr3_133741393_133801641 | 133742454 | GAGAGAGA others(5): Show |
G | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00733.hp2 HG00741.hp1 others(19): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0011a0001c0003t0024a0001c0003t0025others(15): Show | a0001c0003t0011g0047 a0001c0003t0024g0011 a0001c0003t0025g0221 others(17): Show |
22 | 402 | 0.0547 | -12 | c.-39 others(23): Show |
TF | ENSG00000091513.16 | transcript | ENST00000402696.9 | protein_coding | 3938 | chr3 | TogoVar | |||||||
TF_chr3_133741393_133801641 | 133789879 | GTTTTTTT others(5): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00544.hp1 HG00609.hp1 HG00621.hp2 others(55): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0249a0001c0005t0071a0002c0002t0003others(35): Show | a0001c0001t0249g0002 a0001c0005t0071g0010 a0002c0002t0003g0004 others(48): Show |
58 | 402 | 0.1443 | -12 | c.*11 others(25): Show |
TF | ENSG00000091513.16 | transcript | ENST00000402696.9 | protein_coding | 17/17 | 11277 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
TGFA_chr2_70442284_70558826 | 70504433 | AATATATA others(5): Show |
A | intron_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0325 | 1 | 344 | 0.0029 | -12 | c.94+ others(29): Show |
TGFA | ENSG00000163235.16 | transcript | ENST00000295400.11 | protein_coding | 2/5 | chr2 | TogoVar | |||||||
TGFA_chr2_70442284_70558826 | 70504453 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02647.hp1 HG02895.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0004g0142 a0001c0001t0005g0280 a0001c0001t0006g0259 others(2): Show |
6 | 344 | 0.0174 | -12 | c.94+ others(29): Show |
TGFA | ENSG00000163235.16 | transcript | ENST00000295400.11 | protein_coding | 2/5 | chr2 | TogoVar | |||||||
TGFA_chr2_70442284_70558826 | 70511890 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0004 | 2 | 344 | 0.0058 | -12 | c.94+ others(27): Show |
TGFA | ENSG00000163235.16 | transcript | ENST00000295400.11 | protein_coding | 2/5 | chr2 | TogoVar | |||||||
TGFA_chr2_70442284_70558826 | 70533606 | AGGATAGG others(5): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG01070.hp2 others(31): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0137 others(31): Show |
34 | 344 | 0.0988 | -12 | c.41- others(29): Show |
TGFA | ENSG00000163235.16 | transcript | ENST00000295400.11 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
TGFB1I1_chr16_31467152_31482958 | 31478725 | CAAAAAAA others(5): Show |
C | downstream_gene_variant | MODIFIER | HG02886.hp2 HG02922.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 3 | 410 | 0.0073 | -12 | c.*11 others(23): Show |
TGFB1I1 | ENSG00000140682.19 | transcript | ENST00000394863.8 | protein_coding | 768 | chr16 | TogoVar | |||||||
TGFB1I1_chr16_31467152_31482958 | 31478757 | AAAAGAAA others(5): Show |
A | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01884.hp1 HG02109.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 9 | 410 | 0.0220 | -12 | c.*11 others(23): Show |
TGFB1I1 | ENSG00000140682.19 | transcript | ENST00000394863.8 | protein_coding | 800 | chr16 | TogoVar | |||||||
TGFB1_chr19_41325323_41358922 | 41348575 | TTTTATTT others(5): Show |
T | intron_variant | MODIFIER | HG01261.hp2 HG02735.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 a0001c0001t0001g0222 |
2 | 372 | 0.0054 | -12 | c.356 others(27): Show |
TGFB1 | ENSG00000105329.11 | transcript | ENST00000221930.6 | protein_coding | 1/6 | chr19 | TogoVar | |||||||
TGFB2_chr1_218340336_218449619 | 218369256 | GAAAAAAA others(5): Show |
G | intron_variant | MODIFIER | HG01433.hp2 HG02630.hp1 HG02922.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0031a0001c0001t0032 | a0001c0001t0020g0004 a0001c0001t0031g0284 a0001c0001t0032g0285 |
4 | 290 | 0.0138 | -12 | c.346 others(31): Show |
TGFB2 | ENSG00000092969.12 | transcript | ENST00000366930.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TGFB2_chr1_218340336_218449619 | 218447928 | CATATATA others(5): Show |
C | downstream_gene_variant | MODIFIER | HG01433.hp2 HG02258.hp2 HG02559.hp2 others(9): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0085 a0001c0001t0002g0180 a0001c0001t0002g0198 others(8): Show |
12 | 290 | 0.0414 | -12 | c.*65 others(23): Show |
TGFB2 | ENSG00000092969.12 | transcript | ENST00000366930.9 | protein_coding | 3310 | chr1 | TogoVar | |||||||
TGFB3_chr14_75953097_75986995 | 75954252 | CAAAAAAA others(5): Show |
C | downstream_gene_variant | MODIFIER | NA18981.hp1 NA18981.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0199 |
2 | 378 | 0.0053 | -12 | c.*49 others(23): Show |
TGFB3 | ENSG00000119699.8 | transcript | ENST00000238682.8 | protein_coding | 3844 | chr14 | TogoVar | |||||||
TGFB3_chr14_75953097_75986995 | 75970562 | AAATAATA others(5): Show |
A | intron_variant | MODIFIER | HG03540.hp2 HG04199.hp1 NA18962.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0019a0001c0001t0020a0001c0002t0001 | a0001c0001t0019g0110 a0001c0001t0020g0113 a0001c0002t0001g0070 |
3 | 378 | 0.0079 | -12 | c.646 others(27): Show |
TGFB3 | ENSG00000119699.8 | transcript | ENST00000238682.8 | protein_coding | 3/6 | chr14 | TogoVar | |||||||
TGFB3_chr14_75953097_75986995 | 75977870 | GTGCTTAA others(5): Show |
G | intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 378 | 0.0027 | -12 | c.352 others(29): Show |
TGFB3 | ENSG00000119699.8 | transcript | ENST00000238682.8 | protein_coding | 1/6 | chr14 | TogoVar | |||||||
TGFBR1_chr9_99100113_99159192 | 99105255 | TGGCGGCG others(5): Show |
T | conservative_inframe_deletion | MODERATE | NA19081.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0079 | 1 | 362 | 0.0028 | -12 | c.67_ others(17): Show |
p.Ala others(11): Show |
TGFBR1 | ENSG00000106799.14 | transcript | ENST00000374994.9 | protein_coding | 1/9 | 160/6492 | 67/1512 | 23/503 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
TGFBR1_chr9_99100113_99159192 | 99134802 | TTATATAT others(5): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG00735.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0045 a0001c0001t0001g0103 others(19): Show |
28 | 362 | 0.0774 | -12 | c.574 others(29): Show |
TGFBR1 | ENSG00000106799.14 | transcript | ENST00000374994.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TGFBR2_chr3_30601601_30699142 | 30615275 | CCCTGGTA others(5): Show |
C | intron_variant | MODIFIER | HG01255.hp1 HG01884.hp1 HG01884.hp2 others(9): Show |
a0001a0005 | a0001c0001a0001c0003a0005c0009 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(5): Show | a0001c0001t0001g0359 a0001c0001t0004g0354 a0001c0001t0004g0358 others(9): Show |
12 | 390 | 0.0308 | -12 | c.94+ others(27): Show |
TGFBR2 | ENSG00000163513.19 | transcript | ENST00000295754.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TGFBR2_chr3_30601601_30699142 | 30628528 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0082 | 1 | 390 | 0.0026 | -12 | c.95- others(29): Show |
TGFBR2 | ENSG00000163513.19 | transcript | ENST00000295754.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TGFBR2_chr3_30601601_30699142 | 30636155 | ATGTGTGT others(5): Show |
A | intron_variant | MODIFIER | HG03209.hp2 | a0005 | a0005c0009 | a0005c0009t0004 | a0005c0009t0004g0364 | 1 | 390 | 0.0026 | -12 | c.95- others(27): Show |
TGFBR2 | ENSG00000163513.19 | transcript | ENST00000295754.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TGFBR2_chr3_30601601_30699142 | 30648419 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG01934.hp2 HG02109.hp2 HG02280.hp2 others(15): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0149 a0001c0001t0002g0072 a0001c0001t0004g0028 others(15): Show |
18 | 390 | 0.0462 | -12 | c.264 others(29): Show |
TGFBR2 | ENSG00000163513.19 | transcript | ENST00000295754.10 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TGFBR2_chr3_30601601_30699142 | 30697283 | TCTACACA others(5): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00735.hp1 HG01109.hp1 others(5): Show |
a0001 | a0001c0001a0001c0014 | a0001c0001t0002a0001c0014t0002 | a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0131 others(5): Show |
8 | 390 | 0.0205 | -12 | c.*56 others(23): Show |
TGFBR2 | ENSG00000163513.19 | transcript | ENST00000295754.10 | protein_coding | 3142 | chr3 | TogoVar |