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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TPTE2_chr13_19417877_19566532 | 19453514 | G | GAT | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 HG01884.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 a0001c0001t0001g0177 a0001c0001t0001g0178 |
3 | 222 | 0.0135 | 2 | c.742 others(19): Show |
TPTE2 | ENSG00000132958.19 | transcript | ENST00000697147.1 | protein_coding | 13/22 | chr13 | TogoVar | |||||||
TPTE2_chr13_19417877_19566532 | 19461933 | C | CTT | intron_variant | MODIFIER | HG02165.hp2 HG02257.hp2 HG02572.hp2 others(8): Show |
a0001a0003a0005others(1): Show | a0001c0001a0003c0008a0003c0011others(2): Show | a0001c0001t0001a0001c0001t0002a0003c0008t0001others(3): Show | a0001c0001t0001g0140 a0001c0001t0001g0221 a0001c0001t0002g0031 others(8): Show |
11 | 222 | 0.0496 | 2 | c.741 others(19): Show |
TPTE2 | ENSG00000132958.19 | transcript | ENST00000697147.1 | protein_coding | 13/22 | chr13 | TogoVar | |||||||
TPTE2_chr13_19417877_19566532 | 19473597 | C | CTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(90): Show |
a0001a0007 | a0001c0001a0001c0007a0001c0012others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 others(90): Show |
93 | 222 | 0.4189 | 2 | c.392 others(17): Show |
TPTE2 | ENSG00000132958.19 | transcript | ENST00000697147.1 | protein_coding | 9/22 | chr13 | TogoVar | |||||||
TPTE2_chr13_19417877_19566532 | 19489776 | T | TAG | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp2 HG00642.hp1 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 others(36): Show |
39 | 222 | 0.1757 | 2 | c.119 others(19): Show |
TPTE2 | ENSG00000132958.19 | transcript | ENST00000697147.1 | protein_coding | 6/22 | chr13 | TogoVar | |||||||
TPTE2_chr13_19417877_19566532 | 19506160 | C | CTT | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG01891.hp1 others(4): Show |
a0001a0003 | a0001c0001a0003c0011 | a0001c0001t0001a0003c0011t0001 | a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 others(4): Show |
7 | 222 | 0.0315 | 2 | c.-43 others(19): Show |
TPTE2 | ENSG00000132958.19 | transcript | ENST00000697147.1 | protein_coding | 3/22 | chr13 | TogoVar | |||||||
TPTE2_chr13_19417877_19566532 | 19507304 | T | TAA | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG01109.hp1 others(61): Show |
a0001a0002a0004 | a0001c0001a0001c0007a0001c0014others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0007t0001others(5): Show | a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0001g0134 others(61): Show |
64 | 222 | 0.2883 | 2 | c.-43 others(19): Show |
TPTE2 | ENSG00000132958.19 | transcript | ENST00000697147.1 | protein_coding | 3/22 | chr13 | TogoVar | |||||||
TPTE2_chr13_19417877_19566532 | 19507324 | A | AAC | intron_variant | MODIFIER | HG02109.hp1 HG02559.hp1 HG02647.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 others(2): Show |
5 | 222 | 0.0225 | 2 | c.-43 others(19): Show |
TPTE2 | ENSG00000132958.19 | transcript | ENST00000697147.1 | protein_coding | 3/22 | chr13 | TogoVar | |||||||
TPTE2_chr13_19417877_19566532 | 19514592 | A | AGT | intron_variant | MODIFIER | HG02145.hp1 HG02145.hp2 HG02630.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0011 | a0001c0001t0001a0001c0001t0002a0003c0011t0001 | a0001c0001t0001g0218 a0001c0001t0002g0044 a0001c0001t0002g0101 others(3): Show |
6 | 222 | 0.0270 | 2 | c.-43 others(21): Show |
TPTE2 | ENSG00000132958.19 | transcript | ENST00000697147.1 | protein_coding | 3/22 | chr13 | TogoVar | |||||||
TPTE2_chr13_19417877_19566532 | 19530231 | T | TAA | intron_variant | MODIFIER | HG02922.hp1 HG02976.hp2 HG03195.hp1 |
a0001a0006 | a0001c0001a0006c0004 | a0001c0001t0002a0006c0004t0002 | a0001c0001t0002g0031 a0001c0001t0002g0046 a0006c0004t0002g0032 |
3 | 222 | 0.0135 | 2 | c.-44 others(21): Show |
TPTE2 | ENSG00000132958.19 | transcript | ENST00000697147.1 | protein_coding | 3/22 | chr13 | TogoVar | |||||||
TPTE2_chr13_19417877_19566532 | 19535218 | C | CAA | intron_variant | MODIFIER | HG02559.hp2 HG02976.hp1 HG03098.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0099 others(1): Show |
4 | 222 | 0.0180 | 2 | c.-44 others(21): Show |
TPTE2 | ENSG00000132958.19 | transcript | ENST00000697147.1 | protein_coding | 3/22 | chr13 | TogoVar | |||||||
TPTE2_chr13_19417877_19566532 | 19536195 | T | TTC | intron_variant | MODIFIER | HG02630.hp1 HG02809.hp1 HG03195.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 others(1): Show |
4 | 222 | 0.0180 | 2 | c.-44 others(21): Show |
TPTE2 | ENSG00000132958.19 | transcript | ENST00000697147.1 | protein_coding | 3/22 | chr13 | TogoVar | |||||||
TPTE2_chr13_19417877_19566532 | 19544060 | C | CAA | intron_variant | MODIFIER | HG00323.hp1 HG01167.hp2 HG01169.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 a0001c0001t0002g0069 a0001c0001t0002g0077 others(7): Show |
10 | 222 | 0.0451 | 2 | c.-44 others(19): Show |
TPTE2 | ENSG00000132958.19 | transcript | ENST00000697147.1 | protein_coding | 3/22 | chr13 | TogoVar | |||||||
TPTE2_chr13_19417877_19566532 | 19544934 | T | TCA | intron_variant | MODIFIER | HG00735.hp2 HG02922.hp1 HG02976.hp2 others(3): Show |
a0001a0006 | a0001c0001a0006c0004 | a0001c0001t0001a0001c0001t0002a0006c0004t0002 | a0001c0001t0001g0219 a0001c0001t0002g0021 a0001c0001t0002g0031 others(3): Show |
6 | 222 | 0.0270 | 2 | c.-44 others(19): Show |
TPTE2 | ENSG00000132958.19 | transcript | ENST00000697147.1 | protein_coding | 3/22 | chr13 | TogoVar | |||||||
TPTE2_chr13_19417877_19566532 | 19546483 | C | CTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(72): Show |
a0001a0002a0003 | a0001c0001a0001c0007a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 others(72): Show |
75 | 222 | 0.3378 | 2 | c.-44 others(19): Show |
TPTE2 | ENSG00000132958.19 | transcript | ENST00000697147.1 | protein_coding | 3/22 | chr13 | TogoVar | |||||||
TPTE2_chr13_19417877_19566532 | 19547720 | C | CAT | intron_variant | MODIFIER | HG01515.hp1 HG01517.hp1 HG03471.hp1 |
a0001a0008 | a0001c0001a0008c0009 | a0001c0001t0002a0008c0009t0002 | a0001c0001t0002g0006 a0001c0001t0002g0007 a0008c0009t0002g0045 |
3 | 222 | 0.0135 | 2 | c.-44 others(19): Show |
TPTE2 | ENSG00000132958.19 | transcript | ENST00000697147.1 | protein_coding | 3/22 | chr13 | TogoVar | |||||||
TPTE2_chr13_19417877_19566532 | 19561225 | T | TAG | intron_variant | MODIFIER | HG02630.hp2 HG02886.hp1 HG03516.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 others(1): Show |
4 | 222 | 0.0180 | 2 | c.-24 others(19): Show |
TPTE2 | ENSG00000132958.19 | transcript | ENST00000697147.1 | protein_coding | 1/22 | chr13 | TogoVar | |||||||
TPTE2_chr13_19417877_19566532 | 19562228 | C | CAA | upstream_gene_variant | MODIFIER | HG00735.hp1 HG01891.hp1 HG02109.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 others(10): Show |
13 | 222 | 0.0586 | 2 | c.-10 others(13): Show |
TPTE2 | ENSG00000132958.19 | transcript | ENST00000697147.1 | protein_coding | 697 | chr13 | TogoVar | |||||||
TPTE_chr21_10516583_10610716 | 10518274 | C | CAA | upstream_gene_variant | MODIFIER | HG01928.hp2 HG03471.hp1 HG03491.hp1 others(4): Show |
a0001a0003a0008 | a0001c0001a0003c0004a0008c0009 | a0001c0001t0003a0003c0004t0003a0008c0009t0009 | a0001c0001t0003g0022 a0001c0001t0003g0023 a0003c0004t0003g0018 others(4): Show |
7 | 209 | 0.0335 | 2 | c.-36 others(13): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3308 | chr21 | TogoVar | |||||||
TPTE_chr21_10516583_10610716 | 10518287 | A | AAT | upstream_gene_variant | MODIFIER | HG01169.hp1 HG01496.hp1 HG02280.hp1 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0009 a0001c0003t0002g0120 a0001c0003t0002g0122 others(3): Show |
7 | 209 | 0.0335 | 2 | c.-36 others(13): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3295 | chr21 | TogoVar | |||||||
TPTE_chr21_10516583_10610716 | 10521281 | T | TCC | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00733.hp1 others(54): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0020a0001c0023others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0159 a0001c0001t0003g0004 a0001c0001t0003g0021 others(52): Show |
57 | 209 | 0.2727 | 2 | c.-62 others(11): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 301 | chr21 | TogoVar | |||||||
TPTE_chr21_10516583_10610716 | 10521382 | G | GGC | upstream_gene_variant | MODIFIER | HG00544.hp2 HG03669.hp2 NA18967.hp2 others(1): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004 | a0001c0001t0004a0001c0001t0005a0001c0003t0002others(1): Show | a0001c0001t0004g0093 a0001c0001t0005g0014 a0001c0003t0002g0100 others(1): Show |
4 | 209 | 0.0191 | 2 | c.-52 others(11): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 200 | chr21 | TogoVar | |||||||
TPTE_chr21_10516583_10610716 | 10527133 | C | CCT | intron_variant | MODIFIER | HG00733.hp2 HG00741.hp1 HG01099.hp1 others(58): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0020a0001c0023others(7): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(10): Show | a0001c0001t0003g0004 a0001c0001t0003g0021 a0001c0001t0003g0022 others(57): Show |
61 | 209 | 0.2919 | 2 | c.-10 others(19): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
TPTE_chr21_10516583_10610716 | 10527149 | T | TCA | intron_variant | MODIFIER | HG02071.hp1 HG02132.hp1 HG03491.hp2 others(2): Show |
a0005a0006 | a0005c0006a0006c0007 | a0005c0006t0002a0006c0007t0002 | a0005c0006t0002g0140 a0005c0006t0002g0141 a0005c0006t0002g0142 others(2): Show |
5 | 209 | 0.0239 | 2 | c.-10 others(19): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
TPTE_chr21_10516583_10610716 | 10527172 | G | GAC | intron_variant | MODIFIER | HG01928.hp2 HG02004.hp2 HG03098.hp2 others(5): Show |
a0001a0002a0016 | a0001c0001a0002c0002a0016c0018 | a0001c0001t0003a0001c0001t0004a0002c0002t0007others(1): Show | a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0023 others(4): Show |
8 | 209 | 0.0383 | 2 | c.-10 others(19): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
TPTE_chr21_10516583_10610716 | 10528200 | C | CAA | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00544.hp2 others(75): Show |
a0001a0002a0007others(5): Show | a0001c0001a0001c0003a0001c0010others(8): Show | a0001c0001t0004a0001c0001t0006a0001c0003t0002others(11): Show | a0001c0001t0004g0006 a0001c0001t0004g0007 a0001c0001t0004g0008 others(68): Show |
78 | 209 | 0.3732 | 2 | c.-44 others(17): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
TPTE_chr21_10516583_10610716 | 10541494 | G | GCA | intron_variant | MODIFIER | HG01169.hp1 HG01256.hp2 HG01346.hp1 others(24): Show |
a0001a0005a0006others(1): Show | a0001c0003a0005c0006a0006c0007others(1): Show | a0001c0003t0002a0005c0006t0002a0006c0007t0002others(1): Show | a0001c0003t0002g0009 a0001c0003t0002g0120 a0001c0003t0002g0121 others(23): Show |
27 | 209 | 0.1292 | 2 | c.65+ others(15): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 5/23 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
TPTE_chr21_10516583_10610716 | 10543014 | C | CTT | intron_variant | MODIFIER | HG00738.hp1 HG01123.hp1 HG01361.hp2 others(9): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0005others(1): Show | a0001c0001t0001a0002c0002t0001a0004c0005t0001others(1): Show | a0001c0001t0001g0159 a0001c0001t0001g0182 a0002c0002t0001g0153 others(9): Show |
12 | 209 | 0.0574 | 2 | c.120 others(17): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
TPTE_chr21_10516583_10610716 | 10545635 | T | TAC | intron_variant | MODIFIER | NA19056.hp1 NA19064.hp1 |
a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0003 | 2 | 209 | 0.0096 | 2 | c.173 others(19): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
TPTE_chr21_10516583_10610716 | 10559872 | T | TAA | intron_variant | MODIFIER | HG01256.hp2 HG01346.hp1 HG02071.hp1 others(10): Show |
a0001a0005a0006 | a0001c0003a0005c0006a0006c0007 | a0001c0003t0002a0005c0006t0002a0006c0007t0002 | a0001c0003t0002g0137 a0005c0006t0002g0130 a0005c0006t0002g0131 others(10): Show |
13 | 209 | 0.0622 | 2 | c.284 others(17): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 9/23 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
TPTE_chr21_10516583_10610716 | 10566977 | C | CAA | intron_variant | MODIFIER | HG02630.hp1 HG02886.hp2 HG02895.hp2 others(3): Show |
a0001a0005 | a0001c0001a0001c0003a0005c0006 | a0001c0001t0006a0001c0003t0002a0005c0006t0002 | a0001c0001t0006g0099 a0001c0003t0002g0125 a0001c0003t0002g0126 others(3): Show |
6 | 209 | 0.0287 | 2 | c.447 others(17): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
TPTE_chr21_10516583_10610716 | 10567107 | T | TAA | intron_variant | MODIFIER | HG01169.hp1 HG01496.hp1 HG02280.hp1 others(6): Show |
a0001a0013 | a0001c0003a0013c0025 | a0001c0003t0002a0013c0025t0002 | a0001c0003t0002g0009 a0001c0003t0002g0120 a0001c0003t0002g0121 others(5): Show |
9 | 209 | 0.0431 | 2 | c.447 others(17): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 10/23 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
TPTE_chr21_10516583_10610716 | 10571648 | G | GAT | intron_variant | MODIFIER | NA18970.hp2 NA18971.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0090 a0001c0001t0004g0091 a0001c0001t0006g0097 |
3 | 209 | 0.0144 | 2 | c.795 others(19): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
TPTE_chr21_10516583_10610716 | 10576838 | C | CAT | intron_variant | MODIFIER | HG00099.hp1 HG01346.hp2 HG01993.hp2 others(7): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0003a0002c0002others(4): Show | a0001c0001t0004a0001c0003t0002a0002c0002t0001others(4): Show | a0001c0001t0004g0093 a0001c0003t0002g0109 a0002c0002t0001g0149 others(7): Show |
10 | 209 | 0.0479 | 2 | c.796 others(17): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
TPTE_chr21_10516583_10610716 | 10576875 | A | ATG | intron_variant | MODIFIER | HG00423.hp2 NA18981.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0010 | 2 | 209 | 0.0096 | 2 | c.796 others(17): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
TPTE_chr21_10516583_10610716 | 10584879 | A | AGT | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00544.hp2 others(18): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0004a0001c0003t0002a0001c0003t0011others(5): Show | a0001c0001t0004g0008 a0001c0003t0002g0001 a0001c0003t0002g0100 others(14): Show |
21 | 209 | 0.1005 | 2 | c.102 others(21): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
TPTE_chr21_10516583_10610716 | 10592805 | G | GGT | intron_variant | MODIFIER | HG01346.hp2 HG02040.hp1 HG03491.hp1 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(1): Show | a0001c0001t0004a0002c0002t0001a0002c0002t0007others(2): Show | a0001c0001t0004g0093 a0002c0002t0001g0148 a0002c0002t0001g0167 others(6): Show |
10 | 209 | 0.0479 | 2 | c.117 others(19): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
TPTE_chr21_10516583_10610716 | 10595909 | C | CAA | intron_variant | MODIFIER | HG00733.hp2 HG00738.hp2 HG00741.hp1 others(55): Show |
a0001a0003a0010others(1): Show | a0001c0001a0001c0003a0001c0023others(3): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0003g0004 a0001c0001t0003g0021 a0001c0001t0003g0022 others(52): Show |
58 | 209 | 0.2775 | 2 | c.117 others(17): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
TPTE_chr21_10516583_10610716 | 10600140 | C | CTT | intron_variant | MODIFIER | HG00733.hp2 HG00741.hp1 HG01099.hp1 others(46): Show |
a0001a0003a0016others(1): Show | a0001c0001a0001c0023a0003c0004others(2): Show | a0001c0001t0003a0001c0001t0005a0001c0023t0003others(3): Show | a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0023 others(45): Show |
49 | 209 | 0.2345 | 2 | c.135 others(21): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
TPTE_chr21_10516583_10610716 | 10600142 | T | TTC | intron_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG02040.hp2 others(17): Show |
a0001a0015a0017others(1): Show | a0001c0003a0001c0010a0015c0014others(2): Show | a0001c0003t0002a0001c0003t0011a0001c0010t0002others(3): Show | a0001c0003t0002g0001 a0001c0003t0002g0098 a0001c0003t0002g0101 others(15): Show |
20 | 209 | 0.0957 | 2 | c.135 others(21): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
TPX2_chr20_31734290_31806800 | 31743726 | G | GTT | intron_variant | MODIFIER | HG01243.hp1 HG01361.hp2 HG02145.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0229 a0001c0001t0001g0237 a0001c0001t0001g0238 others(6): Show |
9 | 270 | 0.0333 | 2 | c.-71 others(19): Show |
TPX2 | ENSG00000088325.16 | transcript | ENST00000300403.11 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TPX2_chr20_31734290_31806800 | 31759396 | G | GTT | intron_variant | MODIFIER | HG01496.hp1 HG02280.hp1 HG02559.hp2 others(9): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(2): Show | a0001c0001t0001g0029 a0001c0001t0001g0129 a0001c0001t0001g0228 others(9): Show |
12 | 270 | 0.0444 | 2 | c.107 others(17): Show |
TPX2 | ENSG00000088325.16 | transcript | ENST00000300403.11 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TPX2_chr20_31734290_31806800 | 31766454 | G | GGT | intron_variant | MODIFIER | HG00140.hp1 HG00609.hp1 HG00609.hp2 others(59): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(7): Show | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0072 others(57): Show |
62 | 270 | 0.2296 | 2 | c.230 others(15): Show |
TPX2 | ENSG00000088325.16 | transcript | ENST00000300403.11 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TPX2_chr20_31734290_31806800 | 31772019 | C | CTT | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(60): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(4): Show | a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 others(58): Show |
63 | 270 | 0.2333 | 2 | c.608 others(17): Show |
TPX2 | ENSG00000088325.16 | transcript | ENST00000300403.11 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TPX2_chr20_31734290_31806800 | 31776050 | G | GTT | intron_variant | MODIFIER | HG00609.hp1 HG01099.hp2 HG03710.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0076 others(2): Show |
5 | 270 | 0.0185 | 2 | c.730 others(17): Show |
TPX2 | ENSG00000088325.16 | transcript | ENST00000300403.11 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TPX2_chr20_31734290_31806800 | 31782889 | T | TAC | intron_variant | MODIFIER | HG01081.hp2 HG01993.hp2 HG02004.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0002t0001 | a0001c0001t0001g0027 a0001c0001t0001g0068 a0001c0001t0001g0084 others(7): Show |
10 | 270 | 0.0370 | 2 | c.119 others(19): Show |
TPX2 | ENSG00000088325.16 | transcript | ENST00000300403.11 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TPX2_chr20_31734290_31806800 | 31788417 | C | CAA | intron_variant | MODIFIER | HG01109.hp1 HG01261.hp2 HG02258.hp2 others(11): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0005a0001c0003t0003 | a0001c0001t0001g0030 a0001c0001t0001g0228 a0001c0001t0001g0229 others(11): Show |
14 | 270 | 0.0519 | 2 | c.141 others(21): Show |
TPX2 | ENSG00000088325.16 | transcript | ENST00000300403.11 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TPX2_chr20_31734290_31806800 | 31794755 | A | AGT | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(57): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(7): Show | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0042 others(57): Show |
60 | 270 | 0.2222 | 2 | c.183 others(19): Show |
TPX2 | ENSG00000088325.16 | transcript | ENST00000300403.11 | protein_coding | 15/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TRA2A_chr7_23499780_23536981 | 23502012 | A | ATT | downstream_gene_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG00735.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0011 others(22): Show |
25 | 399 | 0.0627 | 2 | c.*35 others(13): Show |
TRA2A | ENSG00000164548.12 | transcript | ENST00000297071.9 | protein_coding | 2767 | chr7 | TogoVar | |||||||
TRA2A_chr7_23499780_23536981 | 23503474 | A | ATT | downstream_gene_variant | MODIFIER | HG00544.hp2 HG00621.hp1 HG00642.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008 | a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0046 others(17): Show |
22 | 399 | 0.0551 | 2 | c.*20 others(13): Show |
TRA2A | ENSG00000164548.12 | transcript | ENST00000297071.9 | protein_coding | 1305 | chr7 | TogoVar | |||||||
TRA2A_chr7_23499780_23536981 | 23504163 | C | CAA | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG00642.hp1 others(48): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0016 others(48): Show |
51 | 399 | 0.1278 | 2 | c.*13 others(13): Show |
TRA2A | ENSG00000164548.12 | transcript | ENST00000297071.9 | protein_coding | 616 | chr7 | TogoVar |