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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TRPM8_chr2_233912373_234024522 | 233935494 | G | GAGGCAC | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00735.hp1 others(33): Show |
a0001a0003a0007others(1): Show | a0001c0001a0001c0004a0001c0033others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(15): Show | a0001c0001t0002g0173 a0001c0001t0003g0170 a0001c0001t0003g0171 others(33): Show |
36 | 320 | 0.1125 | 6 | c.192 others(23): Show |
TRPM8 | ENSG00000144481.17 | transcript | ENST00000324695.9 | protein_coding | 3/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TRPM8_chr2_233912373_234024522 | 233953643 | G | GACACAC | intron_variant | MODIFIER | HG00408.hp2 HG00621.hp1 HG01074.hp2 others(34): Show |
a0002a0003a0013 | a0002c0002a0002c0006a0002c0010others(6): Show | a0002c0002t0001a0002c0006t0004a0002c0006t0009others(23): Show | a0002c0002t0001g0219 a0002c0002t0001g0266 a0002c0006t0004g0199 others(34): Show |
37 | 319 | 0.1160 | 6 | c.114 others(23): Show |
TRPM8 | ENSG00000144481.17 | transcript | ENST00000324695.9 | protein_coding | 9/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TRPM8_chr2_233912373_234024522 | 233978198 | A | AGTGTGT | intron_variant | MODIFIER | HG00423.hp1 HG00735.hp1 HG01074.hp2 others(18): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(13): Show | a0001c0001t0001g0229 a0001c0001t0002g0259 a0001c0001t0006g0316 others(17): Show |
21 | 70 | 0.3000 | 6 | c.235 others(25): Show |
TRPM8 | ENSG00000144481.17 | transcript | ENST00000324695.9 | protein_coding | 17/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TRPM8_chr2_233912373_234024522 | 234005927 | T | TACACAC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(39): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(23): Show | a0001c0001t0001g0254 a0001c0001t0001g0268 a0001c0001t0001g0278 others(39): Show |
42 | 115 | 0.3652 | 6 | c.313 others(23): Show |
TRPM8 | ENSG00000144481.17 | transcript | ENST00000324695.9 | protein_coding | 22/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TRPM8_chr2_233912373_234024522 | 234012474 | A | AGTGTGT | intron_variant | MODIFIER | HG00639.hp1 HG01257.hp2 HG01258.hp2 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0003a0001c0008a0002c0002others(3): Show | a0001c0003t0001a0001c0008t0001a0002c0002t0001others(4): Show | a0001c0003t0001g0041 a0001c0003t0001g0100 a0001c0008t0001g0048 others(6): Show |
9 | 278 | 0.0324 | 6 | c.326 others(25): Show |
TRPM8 | ENSG00000144481.17 | transcript | ENST00000324695.9 | protein_coding | 24/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TRPS1_chr8_115403496_115673975 | 115408370 | G | GTATATA | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG01257.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0003a0001c0001t0006a0001c0001t0010others(13): Show | a0001c0001t0003g0034 a0001c0001t0006g0106 a0001c0001t0010g0004 others(13): Show |
16 | 36 | 0.4444 | 6 | c.*56 others(17): Show |
TRPS1 | ENSG00000104447.13 | transcript | ENST00000395715.8 | protein_coding | 125 | chr8 | TogoVar | |||||||
TRPS1_chr8_115403496_115673975 | 115435998 | T | TCACACA | intron_variant | MODIFIER | HG00099.hp1 HG00738.hp2 HG02004.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0004a0001c0001t0010a0001c0001t0024others(3): Show | a0001c0001t0004g0084 a0001c0001t0010g0043 a0001c0001t0024g0092 others(3): Show |
6 | 73 | 0.0822 | 6 | c.270 others(27): Show |
TRPS1 | ENSG00000104447.13 | transcript | ENST00000395715.8 | protein_coding | 5/6 | chr8 | TogoVar | |||||||
TRPS1_chr8_115403496_115673975 | 115441894 | A | AGTGTGT | intron_variant | MODIFIER | HG00642.hp1 HG04184.hp1 NA18978.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0042others(2): Show | a0001c0001t0001g0102 a0001c0001t0004g0080 a0001c0001t0004g0081 others(3): Show |
6 | 159 | 0.0377 | 6 | c.270 others(27): Show |
TRPS1 | ENSG00000104447.13 | transcript | ENST00000395715.8 | protein_coding | 5/6 | chr8 | TogoVar | |||||||
TRPS1_chr8_115403496_115673975 | 115441896 | A | AGTGTGT | intron_variant | MODIFIER | HG02559.hp2 HG02976.hp1 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0041a0001c0005t0036 | a0001c0002t0041g0015 a0001c0005t0036g0046 |
2 | 115 | 0.0174 | 6 | c.270 others(27): Show |
TRPS1 | ENSG00000104447.13 | transcript | ENST00000395715.8 | protein_coding | 5/6 | chr8 | TogoVar | |||||||
TRPS1_chr8_115403496_115673975 | 115442550 | C | CGTGTGT | intron_variant | MODIFIER | HG01123.hp1 HG02735.hp1 HG02809.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0008a0001c0001t0088others(1): Show | a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0008g0095 others(2): Show |
5 | 118 | 0.0424 | 6 | c.270 others(27): Show |
TRPS1 | ENSG00000104447.13 | transcript | ENST00000395715.8 | protein_coding | 5/6 | chr8 | TogoVar | |||||||
TRPS1_chr8_115403496_115673975 | 115449956 | A | AACACAC | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(81): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(52): Show | a0001c0001t0001g0085 a0001c0001t0002g0127 a0001c0001t0002g0134 others(81): Show |
84 | 85 | 0.9882 | 6 | c.270 others(27): Show |
TRPS1 | ENSG00000104447.13 | transcript | ENST00000395715.8 | protein_coding | 5/6 | chr8 | TogoVar | |||||||
TRPS1_chr8_115403496_115673975 | 115459324 | A | AAATAAT | intron_variant | MODIFIER | HG00597.hp2 HG01257.hp1 HG01433.hp2 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(13): Show | a0001c0001t0002g0127 a0001c0001t0002g0134 a0001c0001t0002g0135 others(24): Show |
27 | 166 | 0.1627 | 6 | c.270 others(27): Show |
TRPS1 | ENSG00000104447.13 | transcript | ENST00000395715.8 | protein_coding | 5/6 | chr8 | TogoVar | |||||||
TRPS1_chr8_115403496_115673975 | 115475266 | T | TTATATA | intron_variant | MODIFIER | HG01261.hp1 HG02809.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0089a0001c0002t0012 | a0001c0001t0089g0186 a0001c0002t0012g0123 |
2 | 28 | 0.0714 | 6 | c.270 others(27): Show |
TRPS1 | ENSG00000104447.13 | transcript | ENST00000395715.8 | protein_coding | 5/6 | chr8 | TogoVar | |||||||
TRPS1_chr8_115403496_115673975 | 115498373 | G | GTCTCTC | intron_variant | MODIFIER | HG00597.hp2 HG01167.hp2 HG01255.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0009others(4): Show | a0001c0001t0002g0134 a0001c0001t0004g0079 a0001c0001t0009g0006 others(4): Show |
7 | 139 | 0.0504 | 6 | c.270 others(27): Show |
TRPS1 | ENSG00000104447.13 | transcript | ENST00000395715.8 | protein_coding | 5/6 | chr8 | TogoVar | |||||||
TRPS1_chr8_115403496_115673975 | 115498415 | C | CTATATA | intron_variant | MODIFIER | NA18984.hp2 NA19074.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007 | a0001c0001t0004g0101 a0001c0001t0007g0024 |
2 | 114 | 0.0175 | 6 | c.270 others(27): Show |
TRPS1 | ENSG00000104447.13 | transcript | ENST00000395715.8 | protein_coding | 5/6 | chr8 | TogoVar | |||||||
TRPS1_chr8_115403496_115673975 | 115546581 | G | GACACAC | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02965.hp2 others(4): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0012others(1): Show | a0001c0001t0003a0001c0001t0014a0001c0002t0006others(4): Show | a0001c0001t0003g0026 a0001c0001t0014g0180 a0001c0002t0006g0058 others(4): Show |
7 | 50 | 0.1400 | 6 | c.270 others(27): Show |
TRPS1 | ENSG00000104447.13 | transcript | ENST00000395715.8 | protein_coding | 5/6 | chr8 | TogoVar | |||||||
TRPS1_chr8_115403496_115673975 | 115562876 | C | CTGTGTG | intron_variant | MODIFIER | HG00099.hp1 HG01109.hp2 HG01261.hp1 others(9): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0010others(9): Show | a0001c0001t0003g0026 a0001c0001t0004g0061 a0001c0001t0010g0043 others(9): Show |
12 | 56 | 0.2143 | 6 | c.270 others(27): Show |
TRPS1 | ENSG00000104447.13 | transcript | ENST00000395715.8 | protein_coding | 5/6 | chr8 | TogoVar | |||||||
TRPS1_chr8_115403496_115673975 | 115570709 | A | ACACACT | intron_variant | MODIFIER | HG01891.hp1 HG02486.hp2 HG02572.hp2 others(10): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0002t0012a0001c0002t0070others(6): Show | a0001c0002t0002g0153 a0001c0002t0012g0117 a0001c0002t0012g0122 others(10): Show |
13 | 72 | 0.1806 | 6 | c.270 others(27): Show |
TRPS1 | ENSG00000104447.13 | transcript | ENST00000395715.8 | protein_coding | 5/6 | chr8 | TogoVar | |||||||
TRPS1_chr8_115403496_115673975 | 115574741 | C | CATATAT | intron_variant | MODIFIER | HG04228.hp1 NA18972.hp1 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0015 | a0001c0001t0008g0088 a0001c0001t0015g0035 |
2 | 43 | 0.0465 | 6 | c.270 others(27): Show |
TRPS1 | ENSG00000104447.13 | transcript | ENST00000395715.8 | protein_coding | 5/6 | chr8 | TogoVar | |||||||
TRPS1_chr8_115403496_115673975 | 115576322 | G | GATATAT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(47): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0009others(29): Show | a0001c0001t0003g0010 a0001c0001t0003g0026 a0001c0001t0003g0027 others(47): Show |
50 | 91 | 0.5495 | 6 | c.270 others(27): Show |
TRPS1 | ENSG00000104447.13 | transcript | ENST00000395715.8 | protein_coding | 5/6 | chr8 | TogoVar | |||||||
TRPV1_chr17_3560446_3614411 | 3576668 | A | AAAAAAT | intron_variant | MODIFIER | HG00621.hp2 HG02451.hp1 HG02451.hp2 others(4): Show |
a0001a0005a0006 | a0001c0008a0001c0027a0001c0028others(2): Show | a0001c0008t0021a0001c0008t0054a0001c0027t0047others(4): Show | a0001c0008t0021g0323 a0001c0008t0054g0378 a0001c0027t0047g0313 others(4): Show |
7 | 65 | 0.1077 | 6 | c.178 others(23): Show |
TRPV1 | ENSG00000196689.13 | transcript | ENST00000572705.2 | protein_coding | 13/16 | chr17 | TogoVar | |||||||
TRPV1_chr17_3560446_3614411 | 3592886 | C | CCACCCA | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00597.hp2 others(126): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0008a0001c0014others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(39): Show | a0001c0001t0001g0070 a0001c0001t0001g0155 a0001c0001t0001g0179 others(123): Show |
129 | 390 | 0.3308 | 6 | c.-33 others(21): Show |
TRPV1 | ENSG00000196689.13 | transcript | ENST00000572705.2 | protein_coding | 2/16 | chr17 | TogoVar | |||||||
TRPV1_chr17_3560446_3614411 | 3594127 | C | CAAAAAA | intron_variant | MODIFIER | HG02055.hp1 HG02630.hp1 HG02886.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0008a0001c0001t0012others(1): Show | a0001c0001t0007g0330 a0001c0001t0007g0332 a0001c0001t0007g0335 others(5): Show |
8 | 189 | 0.0423 | 6 | c.-33 others(23): Show |
TRPV1 | ENSG00000196689.13 | transcript | ENST00000572705.2 | protein_coding | 2/16 | chr17 | TogoVar | |||||||
TRPV1_chr17_3560446_3614411 | 3599632 | C | CTTTTTT | intron_variant | MODIFIER | HG02055.hp2 HG02615.hp1 HG02647.hp1 others(13): Show |
a0001a0005a0008others(2): Show | a0001c0001a0001c0008a0005c0011others(6): Show | a0001c0001t0014a0001c0001t0016a0001c0001t0030others(9): Show | a0001c0001t0014g0017 a0001c0001t0016g0376 a0001c0001t0016g0377 others(13): Show |
16 | 265 | 0.0604 | 6 | c.-33 others(23): Show |
TRPV1 | ENSG00000196689.13 | transcript | ENST00000572705.2 | protein_coding | 2/16 | chr17 | TogoVar | |||||||
TRPV2_chr17_16410571_16442003 | 16431291 | A | ACATATT | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp2 HG01517.hp1 others(14): Show |
a0001a0008 | a0001c0001a0008c0022 | a0001c0001t0001a0001c0001t0003a0008c0022t0001 | a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0012 others(8): Show |
17 | 164 | 0.1037 | 6 | c.158 others(23): Show |
TRPV2 | ENSG00000187688.15 | transcript | ENST00000338560.12 | protein_coding | 10/14 | chr17 | TogoVar | |||||||
TRPV3_chr17_3505502_3562812 | 3551870 | C | CTTTTTT | intron_variant | MODIFIER | HG01069.hp1 HG01074.hp1 HG01099.hp2 others(11): Show |
a0001a0002a0004others(2): Show | a0001c0091a0002c0006a0002c0007others(5): Show | a0001c0091t0001a0002c0006t0004a0002c0006t0005others(10): Show | a0001c0091t0001g0048 a0002c0006t0004g0130 a0002c0006t0005g0310 others(11): Show |
14 | 145 | 0.0966 | 6 | c.119 others(23): Show |
TRPV3 | ENSG00000167723.15 | transcript | ENST00000576742.6 | protein_coding | 2/17 | chr17 | TogoVar | |||||||
TRPV4_chr12_109778089_109838398 | 109800411 | C | CCAAGTT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(279): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0004others(27): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(28): Show | a0001c0001t0001g0002 a0001c0001t0001g0018 a0001c0001t0001g0019 others(251): Show |
282 | 342 | 0.8246 | 6 | c.853 others(21): Show |
TRPV4 | ENSG00000111199.12 | transcript | ENST00000261740.7 | protein_coding | 5/15 | chr12 | TogoVar | |||||||
TRPV6_chr7_142866208_142890745 | 142889708 | G | GGTGTGT | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(164): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(14): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 others(49): Show |
167 | 183 | 0.9126 | 6 | c.-40 others(17): Show |
TRPV6 | ENSG00000165125.22 | transcript | ENST00000359396.9 | protein_coding | 3964 | WARNING_TRANSCRIPT_NO_START_CODON | chr7 | TogoVar | ||||||
TRRAP_chr7_98873532_99018241 | 98880262 | G | GTTTTGT | intron_variant | MODIFIER | HG00408.hp2 HG00621.hp2 HG00738.hp1 others(59): Show |
a0001a0007 | a0001c0001a0001c0021a0001c0022others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0021t0001others(6): Show | a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 others(59): Show |
62 | 131 | 0.4733 | 6 | c.-61 others(21): Show |
TRRAP | ENSG00000196367.15 | transcript | ENST00000456197.2 | protein_coding | 1/72 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TRRAP_chr7_98873532_99018241 | 98880262 | G | GTTTTTT | intron_variant | MODIFIER | HG00438.hp1 HG00621.hp1 HG01891.hp2 others(14): Show |
a0001a0009 | a0001c0001a0001c0007a0001c0025others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0007t0001others(2): Show | a0001c0001t0001g0066 a0001c0001t0001g0076 a0001c0001t0001g0082 others(14): Show |
17 | 86 | 0.1977 | 6 | c.-61 others(21): Show |
TRRAP | ENSG00000196367.15 | transcript | ENST00000456197.2 | protein_coding | 1/72 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TRRAP_chr7_98873532_99018241 | 98885667 | A | AATATAT | intron_variant | MODIFIER | HG02257.hp1 HG02965.hp1 HG03139.hp1 others(2): Show |
a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0002 a0001c0004t0002g0168 a0001c0004t0002g0169 others(1): Show |
5 | 252 | 0.0198 | 6 | c.150 others(23): Show |
TRRAP | ENSG00000196367.15 | transcript | ENST00000456197.2 | protein_coding | 3/72 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TRRAP_chr7_98873532_99018241 | 98891192 | C | CATATAT | intron_variant | MODIFIER | HG00642.hp2 HG01515.hp1 HG01975.hp1 others(7): Show |
a0001 | a0001c0001a0001c0038 | a0001c0001t0001a0001c0038t0001 | a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0076 others(7): Show |
10 | 142 | 0.0704 | 6 | c.261 others(21): Show |
TRRAP | ENSG00000196367.15 | transcript | ENST00000456197.2 | protein_coding | 4/72 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TRRAP_chr7_98873532_99018241 | 98902592 | A | ATGGAAC | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00621.hp2 others(58): Show |
a0001a0007 | a0001c0001a0001c0021a0001c0022others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0021t0001others(5): Show | a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 others(58): Show |
61 | 260 | 0.2346 | 6 | c.898 others(21): Show |
TRRAP | ENSG00000196367.15 | transcript | ENST00000456197.2 | protein_coding | 11/72 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TRRAP_chr7_98873532_99018241 | 98951059 | C | CTGTGTG | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00621.hp1 others(66): Show |
a0001a0012a0014 | a0001c0001a0001c0003a0001c0007others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0042 others(65): Show |
69 | 131 | 0.5267 | 6 | c.546 others(21): Show |
TRRAP | ENSG00000196367.15 | transcript | ENST00000456197.2 | protein_coding | 39/72 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TRRAP_chr7_98873532_99018241 | 98953031 | T | TTGTGTG | intron_variant | MODIFIER | HG00438.hp2 HG02300.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0221 a0001c0001t0002g0232 |
2 | 57 | 0.0351 | 6 | c.546 others(21): Show |
TRRAP | ENSG00000196367.15 | transcript | ENST00000456197.2 | protein_coding | 39/72 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TRRAP_chr7_98873532_99018241 | 98992560 | C | CGTGTGT | intron_variant | MODIFIER | HG02622.hp1 HG02630.hp1 HG02895.hp1 others(3): Show |
a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0004 a0001c0005t0004g0005 a0001c0005t0004g0006 others(3): Show |
6 | 144 | 0.0417 | 6 | c.984 others(23): Show |
TRRAP | ENSG00000196367.15 | transcript | ENST00000456197.2 | protein_coding | 65/72 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TSBP1_chr6_32287698_32376903 | 32301813 | A | ACCATAG | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(113): Show |
a0003a0006a0007others(4): Show | a0003c0003a0006c0006a0007c0007others(4): Show | a0003c0003t0001a0003c0003t0003a0003c0003t0004others(12): Show | a0003c0003t0001g0002 a0003c0003t0001g0005 a0003c0003t0001g0006 others(94): Show |
116 | 420 | 0.2762 | 6 | c.595 others(21): Show |
TSBP1 | ENSG00000204296.13 | transcript | ENST00000533191.6 | protein_coding | 23/25 | chr6 | TogoVar | |||||||
TSBP1_chr6_32287698_32376903 | 32301958 | A | AAATAAT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00558.hp1 others(59): Show |
a0001a0003a0004others(3): Show | a0001c0001a0003c0003a0004c0004others(3): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(7): Show | a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0089 others(53): Show |
62 | 326 | 0.1902 | 6 | c.595 others(21): Show |
TSBP1 | ENSG00000204296.13 | transcript | ENST00000533191.6 | protein_coding | 23/25 | chr6 | TogoVar | |||||||
TSBP1_chr6_32287698_32376903 | 32322917 | T | TATGAAA | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(140): Show |
a0001a0012a0014others(1): Show | a0001c0001a0012c0012a0014c0013others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(5): Show | a0001c0001t0002g0008 a0001c0001t0002g0045 a0001c0001t0002g0046 others(131): Show |
143 | 420 | 0.3405 | 6 | c.511 others(21): Show |
TSBP1 | ENSG00000204296.13 | transcript | ENST00000533191.6 | protein_coding | 19/25 | chr6 | TogoVar | |||||||
TSBP1_chr6_32287698_32376903 | 32330635 | A | AACACAC | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00558.hp1 others(17): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0005a0001c0001t0008a0002c0002t0003others(9): Show | a0001c0001t0005g0299 a0001c0001t0008g0249 a0002c0002t0003g0332 others(17): Show |
20 | 147 | 0.1361 | 6 | c.446 others(19): Show |
TSBP1 | ENSG00000204296.13 | transcript | ENST00000533191.6 | protein_coding | 16/25 | chr6 | TogoVar | |||||||
TSBP1_chr6_32287698_32376903 | 32337325 | G | GAGACGC | intron_variant | MODIFIER | HG00738.hp1 HG01123.hp2 HG01243.hp1 others(13): Show |
a0006 | a0006c0006 | a0006c0006t0001a0006c0006t0003a0006c0006t0004others(1): Show | a0006c0006t0001g0057 a0006c0006t0001g0058 a0006c0006t0001g0059 others(12): Show |
16 | 420 | 0.0381 | 6 | c.362 others(21): Show |
TSBP1 | ENSG00000204296.13 | transcript | ENST00000533191.6 | protein_coding | 12/25 | chr6 | TogoVar | |||||||
TSBP1_chr6_32287698_32376903 | 32362288 | C | CAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(142): Show |
a0001a0006a0009others(2): Show | a0001c0001a0006c0006a0009c0009others(2): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(11): Show | a0001c0001t0002g0008 a0001c0001t0002g0045 a0001c0001t0002g0046 others(132): Show |
145 | 187 | 0.7754 | 6 | c.217 others(23): Show |
TSBP1 | ENSG00000204296.13 | transcript | ENST00000533191.6 | protein_coding | 6/25 | chr6 | TogoVar | |||||||
TSBP1_chr6_32287698_32376903 | 32366762 | C | CAAAAAA | intron_variant | MODIFIER | HG00597.hp1 HG00621.hp1 HG00741.hp2 others(16): Show |
a0001a0006a0009 | a0001c0001a0006c0006a0009c0009 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(3): Show | a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0150 others(16): Show |
19 | 55 | 0.3455 | 6 | c.167 others(21): Show |
TSBP1 | ENSG00000204296.13 | transcript | ENST00000533191.6 | protein_coding | 4/25 | chr6 | TogoVar | |||||||
TSBP1_chr6_32287698_32376903 | 32367052 | C | CGTGTGT | intron_variant | MODIFIER | HG01361.hp1 HG01516.hp2 HG02486.hp2 others(11): Show |
a0003a0004a0016 | a0003c0003a0004c0004a0016c0016 | a0003c0003t0001a0003c0003t0004a0004c0004t0001others(2): Show | a0003c0003t0001g0054 a0003c0003t0001g0104 a0003c0003t0001g0105 others(10): Show |
14 | 148 | 0.0946 | 6 | c.167 others(21): Show |
TSBP1 | ENSG00000204296.13 | transcript | ENST00000533191.6 | protein_coding | 4/25 | chr6 | TogoVar | |||||||
TSBP1_chr6_32287698_32376903 | 32370405 | C | CTGTGTG | intron_variant | MODIFIER | HG01358.hp2 HG01934.hp1 HG01943.hp1 others(6): Show |
a0001a0012 | a0001c0001a0012c0012 | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(2): Show | a0001c0001t0002g0095 a0001c0001t0006g0027 a0001c0001t0006g0355 others(5): Show |
9 | 375 | 0.0240 | 6 | c.14- others(19): Show |
TSBP1 | ENSG00000204296.13 | transcript | ENST00000533191.6 | protein_coding | 1/25 | chr6 | TogoVar | |||||||
TSBP1_chr6_32287698_32376903 | 32370407 | G | GTGTATA | intron_variant | MODIFIER | HG03017.hp1 NA18946.hp1 NA18948.hp2 others(7): Show |
a0002a0005 | a0002c0002a0005c0005 | a0002c0002t0001a0005c0005t0001 | a0002c0002t0001g0003 a0002c0002t0001g0127 a0002c0002t0001g0128 others(3): Show |
10 | 101 | 0.0990 | 6 | c.14- others(19): Show |
TSBP1 | ENSG00000204296.13 | transcript | ENST00000533191.6 | protein_coding | 1/25 | chr6 | TogoVar | |||||||
TSBP1_chr6_32287698_32376903 | 32370855 | A | AAGAGAG | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00558.hp2 others(83): Show |
a0004a0006a0007others(5): Show | a0004c0004a0006c0006a0007c0007others(5): Show | a0004c0004t0001a0004c0004t0003a0004c0004t0004others(15): Show | a0004c0004t0001g0004 a0004c0004t0001g0055 a0004c0004t0001g0210 others(63): Show |
86 | 134 | 0.6418 | 6 | c.13+ others(19): Show |
TSBP1 | ENSG00000204296.13 | transcript | ENST00000533191.6 | protein_coding | 1/25 | chr6 | TogoVar | |||||||
TSBP1_chr6_32287698_32376903 | 32374240 | C | CTGTGTG | upstream_gene_variant | MODIFIER | HG00738.hp1 HG01123.hp2 HG01243.hp1 others(15): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0004others(1): Show | a0001c0001t0002a0002c0002t0001a0004c0004t0001others(3): Show | a0001c0001t0002g0190 a0001c0001t0002g0226 a0002c0002t0001g0003 others(11): Show |
18 | 49 | 0.3673 | 6 | c.-25 others(17): Show |
TSBP1 | ENSG00000204296.13 | transcript | ENST00000533191.6 | protein_coding | 2338 | chr6 | TogoVar | |||||||
TSC1_chr9_132886349_132949616 | 132949268 | T | TACACAC | upstream_gene_variant | MODIFIER | HG00735.hp1 HG01074.hp1 HG01175.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0008 | a0001c0001t0082a0001c0003t0035a0001c0003t0076others(1): Show | a0001c0001t0082g0289 a0001c0003t0035g0297 a0001c0003t0035g0299 others(2): Show |
5 | 75 | 0.0667 | 6 | c.-48 others(17): Show |
TSC1 | ENSG00000165699.15 | transcript | ENST00000298552.9 | protein_coding | 4653 | chr9 | TogoVar | |||||||
TSC22D1_chr13_44427143_44581330 | 44448892 | C | CGTGTGT | intron_variant | MODIFIER | HG02280.hp1 HG03098.hp1 NA19003.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0023 a0001c0001t0001g0087 a0001c0001t0008g0234 |
3 | 40 | 0.0750 | 6 | c.291 others(27): Show |
TSC22D1 | ENSG00000102804.16 | transcript | ENST00000458659.3 | protein_coding | 1/2 | chr13 | TogoVar |