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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TPRG1_chr3_189166971_189330304 | 189206808 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00735.hp2 HG01099.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(10): Show | a0001c0001t0003g0108 a0001c0001t0004g0253 a0001c0001t0004g0265 others(23): Show |
26 | 101 | 0.2574 | 8 | c.-9- others(21): Show |
TPRG1 | ENSG00000188001.10 | transcript | ENST00000345063.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TPRG1_chr3_189166971_189330304 | 189231265 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00639.hp1 HG00642.hp2 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(10): Show | a0001c0001t0003g0108 a0001c0001t0004g0187 a0001c0001t0004g0191 others(27): Show |
30 | 159 | 0.1887 | 8 | c.303 others(25): Show |
TPRG1 | ENSG00000188001.10 | transcript | ENST00000345063.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TPRG1_chr3_189166971_189330304 | 189231943 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01358.hp1 HG02922.hp1 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0007 a0001c0001t0009g0214 a0001c0001t0009g0215 |
3 | 125 | 0.0240 | 8 | c.303 others(25): Show |
TPRG1 | ENSG00000188001.10 | transcript | ENST00000345063.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TPRG1_chr3_189166971_189330304 | 189272682 | C | CCTTTCTT others(1): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00642.hp2 HG00733.hp2 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0072 a0001c0001t0001g0141 a0001c0001t0002g0024 others(40): Show |
43 | 276 | 0.1558 | 8 | c.479 others(27): Show |
TPRG1 | ENSG00000188001.10 | transcript | ENST00000345063.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TPRG1_chr3_189166971_189330304 | 189272695 | C | CTTTCTCT others(1): Show |
intron_variant | MODIFIER | HG02109.hp1 HG03098.hp1 HG03130.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0034a0001c0001t0053 | a0001c0001t0017g0001 a0001c0001t0017g0003 a0001c0001t0017g0067 others(2): Show |
5 | 274 | 0.0182 | 8 | c.479 others(27): Show |
TPRG1 | ENSG00000188001.10 | transcript | ENST00000345063.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TPRG1_chr3_189166971_189330304 | 189272713 | C | CTCCTTCC others(1): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00621.hp1 HG00621.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0007 a0001c0001t0001g0069 a0001c0001t0002g0037 others(17): Show |
20 | 95 | 0.2105 | 8 | c.479 others(27): Show |
TPRG1 | ENSG00000188001.10 | transcript | ENST00000345063.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TPRG1_chr3_189166971_189330304 | 189282215 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01928.hp1 HG02280.hp2 HG02572.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0011others(2): Show | a0001c0001t0003g0171 a0001c0001t0007g0061 a0001c0001t0011g0074 others(3): Show |
6 | 35 | 0.1714 | 8 | c.480 others(27): Show |
TPRG1 | ENSG00000188001.10 | transcript | ENST00000345063.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TPRG1_chr3_189166971_189330304 | 189329806 | C | CTTATTTA others(1): Show |
downstream_gene_variant | MODIFIER | HG01255.hp2 HG01993.hp2 HG02055.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0176 a0001c0001t0002g0106 a0001c0001t0003g0112 others(5): Show |
8 | 187 | 0.0428 | 8 | c.*89 others(19): Show |
TPRG1 | ENSG00000188001.10 | transcript | ENST00000345063.8 | protein_coding | 4503 | chr3 | TogoVar | |||||||
TPR_chr1_186306652_186380253 | 186327164 | A | ATATATAT others(1): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00642.hp2 HG00741.hp1 others(46): Show |
a0001a0008a0015 | a0001c0001a0001c0013a0001c0019others(2): Show | a0001c0001t0001a0001c0001t0009a0001c0013t0001others(4): Show | a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0024 others(30): Show |
49 | 358 | 0.1369 | 8 | c.588 others(25): Show |
TPR | ENSG00000047410.14 | transcript | ENST00000367478.9 | protein_coding | 40/50 | chr1 | TogoVar | |||||||
TPR_chr1_186306652_186380253 | 186365102 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00544.hp2 others(75): Show |
a0001a0003a0007others(2): Show | a0001c0001a0001c0020a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0012a0001c0020t0001others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0025 others(48): Show |
78 | 204 | 0.3824 | 8 | c.428 others(25): Show |
TPR | ENSG00000047410.14 | transcript | ENST00000367478.9 | protein_coding | 4/50 | chr1 | TogoVar | |||||||
TPR_chr1_186306652_186380253 | 186375993 | A | AGTGTGTG others(1): Show |
upstream_gene_variant | MODIFIER | HG00558.hp1 HG00639.hp1 HG00642.hp2 others(65): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0013a0001c0017others(6): Show | a0001c0001t0001a0001c0013t0001a0001c0017t0001others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0024 others(48): Show |
68 | 127 | 0.5354 | 8 | c.-97 others(17): Show |
TPR | ENSG00000047410.14 | transcript | ENST00000367478.9 | protein_coding | 741 | chr1 | TogoVar | |||||||
TPSAB1_chr16_1235705_1247554 | 1246976 | A | AAAGGAAG others(1): Show |
downstream_gene_variant | MODIFIER | HG00733.hp1 HG02074.hp2 NA18970.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 4 | 55 | 0.0727 | 8 | c.*47 others(19): Show |
TPSAB1 | ENSG00000172236.19 | transcript | ENST00000338844.8 | protein_coding | 4423 | chr16 | TogoVar | |||||||
TPSB2_chr16_1223336_1235184 | 1233264 | T | TTAAAAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG02451.hp2 HG03130.hp1 HG03209.hp2 others(1): Show |
a0001a0005 | a0001c0006a0005c0005 | a0001c0006t0005a0005c0005t0005 | a0001c0006t0005g0009 a0005c0005t0005g0058 |
4 | 63 | 0.0635 | 8 | c.-31 others(19): Show |
TPSB2 | ENSG00000197253.14 | transcript | ENST00000606293.5 | protein_coding | 3081 | chr16 | TogoVar | |||||||
TPSD1_chr16_1251069_1264008 | 1251825 | A | AAAATAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG01496.hp2 HG02027.hp1 HG02132.hp1 others(7): Show |
a0001a0003a0004others(2): Show | a0001c0001a0003c0003a0004c0004others(3): Show | a0001c0001t0010a0001c0001t0057a0003c0003t0003others(6): Show | a0001c0001t0010g0001 a0001c0001t0057g0001 a0003c0003t0003g0009 others(6): Show |
10 | 111 | 0.0901 | 8 | c.-44 others(19): Show |
TPSD1 | ENSG00000095917.15 | transcript | ENST00000211076.5 | protein_coding | 4243 | chr16 | TogoVar | |||||||
TPSD1_chr16_1251069_1264008 | 1252656 | C | CTTTTTTT others(1): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00597.hp2 others(58): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0008a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(26): Show | a0001c0001t0001g0001 a0001c0001t0004g0001 a0001c0001t0010g0001 others(29): Show |
61 | 63 | 0.9683 | 8 | c.-36 others(19): Show |
TPSD1 | ENSG00000095917.15 | transcript | ENST00000211076.5 | protein_coding | 3412 | chr16 | TogoVar | |||||||
TPST1_chr7_66200334_66365443 | 66224971 | G | GTAATGGC others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp2 others(87): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 others(87): Show |
90 | 344 | 0.2616 | 8 | c.-10 others(29): Show |
TPST1 | ENSG00000169902.15 | transcript | ENST00000304842.6 | protein_coding | 1/5 | chr7 | TogoVar | |||||||
TPST1_chr7_66200334_66365443 | 66227028 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00642.hp1 HG00642.hp2 others(46): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0036 others(46): Show |
49 | 179 | 0.2737 | 8 | c.-10 others(29): Show |
TPST1 | ENSG00000169902.15 | transcript | ENST00000304842.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TPST1_chr7_66200334_66365443 | 66234400 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00558.hp2 HG01256.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0033 others(10): Show |
13 | 107 | 0.1215 | 8 | c.-10 others(27): Show |
TPST1 | ENSG00000169902.15 | transcript | ENST00000304842.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TPST1_chr7_66200334_66365443 | 66276365 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01358.hp2 HG01515.hp2 others(16): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0005a0001c0004t0001 | a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0111 others(16): Show |
19 | 161 | 0.1180 | 8 | c.846 others(27): Show |
TPST1 | ENSG00000169902.15 | transcript | ENST00000304842.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TPST1_chr7_66200334_66365443 | 66310803 | G | GTATTTAT others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00639.hp2 others(94): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0010 a0001c0001t0001g0037 a0001c0001t0001g0041 others(94): Show |
97 | 198 | 0.4899 | 8 | c.104 others(29): Show |
TPST1 | ENSG00000169902.15 | transcript | ENST00000304842.6 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TPST1_chr7_66200334_66365443 | 66328859 | G | GCTCTCTC others(1): Show |
intron_variant | MODIFIER | HG02040.hp2 HG02965.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 a0001c0001t0001g0153 a0001c0001t0001g0160 |
3 | 273 | 0.0110 | 8 | c.104 others(29): Show |
TPST1 | ENSG00000169902.15 | transcript | ENST00000304842.6 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TPST1_chr7_66200334_66365443 | 66328886 | C | CTCTCTAT others(1): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02559.hp1 HG02922.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0030 a0001c0001t0001g0056 a0001c0001t0001g0057 others(5): Show |
8 | 176 | 0.0455 | 8 | c.104 others(29): Show |
TPST1 | ENSG00000169902.15 | transcript | ENST00000304842.6 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TPST2_chr22_26516996_26595132 | 26517169 | T | TTTTATTT others(1): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG00639.hp1 others(42): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0342 a0001c0001t0002g0340 a0001c0001t0002g0357 others(42): Show |
45 | 172 | 0.2616 | 8 | c.*91 others(19): Show |
TPST2 | ENSG00000128294.16 | transcript | ENST00000338754.9 | protein_coding | 4826 | chr22 | TogoVar | |||||||
TPST2_chr22_26516996_26595132 | 26530631 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01074.hp1 HG01168.hp2 others(27): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0006others(2): Show | a0001c0001t0006a0001c0004t0001a0001c0004t0006others(3): Show | a0001c0001t0006g0003 a0001c0001t0006g0004 a0001c0001t0006g0038 others(25): Show |
30 | 234 | 0.1282 | 8 | c.109 others(27): Show |
TPST2 | ENSG00000128294.16 | transcript | ENST00000338754.9 | protein_coding | 5/6 | chr22 | TogoVar | |||||||
TPST2_chr22_26516996_26595132 | 26561686 | C | CATCATTA others(1): Show |
intron_variant | MODIFIER | HG02735.hp1 HG03704.hp1 HG03927.hp2 |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0002a0001c0006t0005a0002c0002t0007 | a0001c0001t0002g0304 a0001c0006t0005g0042 a0002c0002t0007g0041 |
3 | 398 | 0.0075 | 8 | c.-16 others(29): Show |
TPST2 | ENSG00000128294.16 | transcript | ENST00000338754.9 | protein_coding | 1/6 | chr22 | TogoVar | |||||||
TPST2_chr22_26516996_26595132 | 26591890 | T | TACACACA others(1): Show |
upstream_gene_variant | MODIFIER | HG00609.hp2 HG01069.hp2 HG01071.hp1 others(16): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(6): Show | a0001c0001t0001g0028 a0001c0001t0001g0093 a0001c0001t0001g0099 others(16): Show |
19 | 54 | 0.3519 | 8 | c.-20 others(19): Show |
TPST2 | ENSG00000128294.16 | transcript | ENST00000338754.9 | protein_coding | 1759 | chr22 | TogoVar | |||||||
TPTE2_chr13_19417877_19566532 | 19435755 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00642.hp2 HG01099.hp1 others(22): Show |
a0001a0002 | a0001c0001a0001c0012a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0012t0001others(2): Show | a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0114 others(22): Show |
25 | 80 | 0.3125 | 8 | c.111 others(25): Show |
TPTE2 | ENSG00000132958.19 | transcript | ENST00000697147.1 | protein_coding | 18/22 | chr13 | TogoVar | |||||||
TPTE2_chr13_19417877_19566532 | 19437038 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00621.hp1 HG00621.hp2 others(34): Show |
a0001 | a0001c0001a0001c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0119 a0001c0001t0001g0124 a0001c0001t0001g0138 others(34): Show |
37 | 62 | 0.5968 | 8 | c.103 others(25): Show |
TPTE2 | ENSG00000132958.19 | transcript | ENST00000697147.1 | protein_coding | 17/22 | chr13 | TogoVar | |||||||
TPTE2_chr13_19417877_19566532 | 19443779 | C | CACACACA others(1): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01167.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0030 |
3 | 25 | 0.1200 | 8 | c.974 others(25): Show |
TPTE2 | ENSG00000132958.19 | transcript | ENST00000697147.1 | protein_coding | 16/22 | chr13 | TogoVar | |||||||
TPTE2_chr13_19417877_19566532 | 19451843 | G | GTGTATAT others(1): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0091 a0002c0003t0002g0093 |
2 | 22 | 0.0909 | 8 | c.742 others(23): Show |
TPTE2 | ENSG00000132958.19 | transcript | ENST00000697147.1 | protein_coding | 13/22 | chr13 | TogoVar | |||||||
TPTE2_chr13_19417877_19566532 | 19453538 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01515.hp1 HG01516.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0211 a0001c0001t0002g0006 a0001c0001t0002g0007 others(2): Show |
5 | 10 | 0.5000 | 8 | c.742 others(25): Show |
TPTE2 | ENSG00000132958.19 | transcript | ENST00000697147.1 | protein_coding | 13/22 | chr13 | TogoVar | |||||||
TPTE2_chr13_19417877_19566532 | 19470887 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00673.hp2 HG00735.hp1 others(19): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0002 | a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 others(19): Show |
22 | 108 | 0.2037 | 8 | c.392 others(25): Show |
TPTE2 | ENSG00000132958.19 | transcript | ENST00000697147.1 | protein_coding | 9/22 | chr13 | TogoVar | |||||||
TPTE2_chr13_19417877_19566532 | 19474078 | A | AAAATAAA others(1): Show |
splice_region_variant others(1): Show |
LOW | HG00733.hp2 HG01099.hp1 HG02258.hp1 others(4): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0006 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(1): Show | a0001c0001t0001g0114 a0001c0001t0001g0130 a0001c0001t0001g0131 others(4): Show |
7 | 31 | 0.2258 | 8 | c.231 others(20): Show |
TPTE2 | ENSG00000132958.19 | transcript | ENST00000697147.1 | protein_coding | 8/22 | chr13 | TogoVar | |||||||
TPTE2_chr13_19417877_19566532 | 19493317 | G | GTGGATGG others(1): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00639.hp1 HG01099.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0146 others(13): Show |
16 | 85 | 0.1882 | 8 | c.65+ others(21): Show |
TPTE2 | ENSG00000132958.19 | transcript | ENST00000697147.1 | protein_coding | 5/22 | chr13 | TogoVar | |||||||
TPTE2_chr13_19417877_19566532 | 19506160 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(35): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0002 | a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0141 others(35): Show |
38 | 47 | 0.8085 | 8 | c.-43 others(25): Show |
TPTE2 | ENSG00000132958.19 | transcript | ENST00000697147.1 | protein_coding | 3/22 | chr13 | TogoVar | |||||||
TPTE2_chr13_19417877_19566532 | 19514592 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01243.hp1 HG02040.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0119 others(10): Show |
13 | 16 | 0.8125 | 8 | c.-43 others(27): Show |
TPTE2 | ENSG00000132958.19 | transcript | ENST00000697147.1 | protein_coding | 3/22 | chr13 | TogoVar | |||||||
TPTE2_chr13_19417877_19566532 | 19544060 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00642.hp2 HG00738.hp2 others(18): Show |
a0001a0002a0007 | a0001c0001a0002c0013a0007c0010 | a0001c0001t0001a0002c0013t0001a0007c0010t0001 | a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0140 others(18): Show |
21 | 58 | 0.3621 | 8 | c.-44 others(25): Show |
TPTE2 | ENSG00000132958.19 | transcript | ENST00000697147.1 | protein_coding | 3/22 | chr13 | TogoVar | |||||||
TPTE2_chr13_19417877_19566532 | 19554377 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01516.hp2 HG01517.hp2 others(5): Show |
a0001a0005 | a0001c0001a0001c0007a0005c0005 | a0001c0001t0001a0001c0007t0001a0005c0005t0001 | a0001c0001t0001g0123 a0001c0001t0001g0134 a0001c0001t0001g0135 others(5): Show |
8 | 119 | 0.0672 | 8 | c.-14 others(27): Show |
TPTE2 | ENSG00000132958.19 | transcript | ENST00000697147.1 | protein_coding | 2/22 | chr13 | TogoVar | |||||||
TPTE2_chr13_19417877_19566532 | 19562241 | A | AAAAAAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(85): Show |
a0001a0002a0007 | a0001c0001a0001c0007a0001c0012others(2): Show | a0001c0001t0001a0001c0007t0001a0001c0012t0001others(2): Show | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 others(85): Show |
88 | 206 | 0.4272 | 8 | c.-10 others(19): Show |
TPTE2 | ENSG00000132958.19 | transcript | ENST00000697147.1 | protein_coding | 710 | chr13 | TogoVar | |||||||
TPTE_chr21_10516583_10610716 | 10516922 | G | GTATCTAT others(1): Show |
upstream_gene_variant | MODIFIER | HG01257.hp2 HG01258.hp1 HG01358.hp1 others(6): Show |
a0001a0003a0009 | a0001c0001a0001c0019a0003c0004others(1): Show | a0001c0001t0005a0001c0019t0005a0003c0004t0003others(1): Show | a0001c0001t0005g0004 a0001c0001t0005g0018 a0001c0001t0005g0021 others(6): Show |
9 | 135 | 0.0667 | 8 | c.-49 others(19): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 4660 | chr21 | TogoVar | |||||||
TPTE_chr21_10516583_10610716 | 10516936 | A | ATCTATCT others(1): Show |
upstream_gene_variant | MODIFIER | HG01099.hp1 HG01123.hp2 HG01928.hp2 others(37): Show |
a0001a0003a0008others(3): Show | a0001c0001a0001c0022a0003c0004others(4): Show | a0001c0001t0003a0001c0022t0003a0003c0004t0003others(5): Show | a0001c0001t0003g0004 a0001c0001t0003g0022 a0001c0001t0003g0023 others(36): Show |
40 | 183 | 0.2186 | 8 | c.-49 others(19): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 4646 | chr21 | TogoVar | |||||||
TPTE_chr21_10516583_10610716 | 10516940 | G | GTCTGTCT others(1): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00423.hp2 others(70): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0002a0004c0005others(3): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(5): Show | a0001c0001t0001g0160 a0001c0001t0001g0178 a0001c0001t0001g0187 others(64): Show |
73 | 124 | 0.5887 | 8 | c.-49 others(19): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 4642 | chr21 | TogoVar | |||||||
TPTE_chr21_10516583_10610716 | 10527155 | T | TCACATAC others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(20): Show |
a0001a0014a0016others(1): Show | a0001c0003a0001c0010a0014c0014others(2): Show | a0001c0003t0002a0001c0003t0011a0001c0010t0002others(3): Show | a0001c0003t0002g0001 a0001c0003t0002g0099 a0001c0003t0002g0101 others(18): Show |
23 | 180 | 0.1278 | 8 | c.-10 others(25): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
TPTE_chr21_10516583_10610716 | 10542530 | C | CCCATCCA others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(26): Show |
a0001a0014a0016others(1): Show | a0001c0001a0001c0003a0001c0010others(3): Show | a0001c0001t0006a0001c0003t0002a0001c0003t0011others(4): Show | a0001c0001t0006g0098 a0001c0003t0002g0001 a0001c0003t0002g0009 others(23): Show |
29 | 176 | 0.1648 | 8 | c.119 others(23): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
TPTE_chr21_10516583_10610716 | 10545635 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00597.hp1 others(18): Show |
a0001a0014a0016others(1): Show | a0001c0003a0001c0010a0014c0014others(2): Show | a0001c0003t0002a0001c0003t0011a0001c0010t0002others(3): Show | a0001c0003t0002g0001 a0001c0003t0002g0099 a0001c0003t0002g0101 others(16): Show |
21 | 159 | 0.1321 | 8 | c.173 others(25): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
TPTE_chr21_10516583_10610716 | 10576838 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG01169.hp1 HG01358.hp2 NA18974.hp1 |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0002a0002c0002t0001 | a0001c0003t0002g0129 a0002c0002t0001g0159 a0002c0002t0001g0194 |
3 | 42 | 0.0714 | 8 | c.796 others(23): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
TPTE_chr21_10516583_10610716 | 10599831 | G | GTTGTTTC others(1): Show |
intron_variant | MODIFIER | HG01169.hp1 HG02630.hp1 HG02895.hp2 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0124 a0001c0003t0002g0126 a0001c0003t0002g0127 others(2): Show |
5 | 160 | 0.0313 | 8 | c.135 others(27): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
TPX2_chr20_31734290_31806800 | 31756419 | A | AATTAGTG others(1): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02300.hp2 NA18942.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 |
3 | 268 | 0.0112 | 8 | c.-70 others(23): Show |
TPX2 | ENSG00000088325.16 | transcript | ENST00000300403.11 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TPX2_chr20_31734290_31806800 | 31766454 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01261.hp2 HG02451.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0002t0001g0127 others(4): Show |
7 | 140 | 0.0500 | 8 | c.230 others(21): Show |
TPX2 | ENSG00000088325.16 | transcript | ENST00000300403.11 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TPX2_chr20_31734290_31806800 | 31794755 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02922.hp1 HG03491.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0144 a0001c0002t0001g0151 a0001c0002t0001g0166 others(1): Show |
4 | 144 | 0.0278 | 8 | c.183 others(25): Show |
TPX2 | ENSG00000088325.16 | transcript | ENST00000300403.11 | protein_coding | 15/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |