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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DENND2D_chr1_111180969_111205646 | 111197149 | G | GCAGGACA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(279): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(141): Show |
282 | 470 | 0.6000 | 9 | c.504 others(22): Show |
DENND2D | ENSG00000162777.17 | transcript | ENST00000357640.9 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
DENND5B_chr12_31377226_31596136 | 31397549 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00621.hp1 HG01175.hp2 others(14): Show |
a0001a0004a0008 | a0001c0001a0004c0013a0008c0015 | a0001c0001t0003a0001c0001t0006a0001c0001t0026others(2): Show | a0001c0001t0003g0258 a0001c0001t0003g0262 a0001c0001t0003g0263 others(14): Show |
17 | 30 | 0.5667 | 9 | c.325 others(26): Show |
DENND5B | ENSG00000170456.16 | transcript | ENST00000389082.10 | protein_coding | 17/20 | chr12 | TogoVar | |||||||
DENND5B_chr12_31377226_31596136 | 31404759 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00558.hp1 others(58): Show |
a0001a0002a0009 | a0001c0001a0001c0004a0001c0012others(2): Show | a0001c0001t0006a0001c0001t0016a0001c0001t0021others(14): Show | a0001c0001t0006g0249 a0001c0001t0006g0250 a0001c0001t0016g0297 others(58): Show |
61 | 67 | 0.9104 | 9 | c.280 others(28): Show |
DENND5B | ENSG00000170456.16 | transcript | ENST00000389082.10 | protein_coding | 14/20 | chr12 | TogoVar | |||||||
DENND5B_chr12_31377226_31596136 | 31449731 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00621.hp2 HG00642.hp1 others(9): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0006a0003c0003t0002others(2): Show | a0001c0001t0002g0292 a0001c0001t0006g0289 a0001c0001t0006g0290 others(9): Show |
12 | 148 | 0.0811 | 9 | c.163 others(28): Show |
DENND5B | ENSG00000170456.16 | transcript | ENST00000389082.10 | protein_coding | 5/20 | chr12 | TogoVar | |||||||
DENND5B_chr12_31377226_31596136 | 31495389 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02717.hp1 HG02723.hp2 others(8): Show |
a0003a0007 | a0003c0003a0007c0011 | a0003c0003t0002a0003c0003t0007a0003c0003t0017others(2): Show | a0003c0003t0002g0070 a0003c0003t0007g0062 a0003c0003t0007g0063 others(8): Show |
11 | 45 | 0.2444 | 9 | c.237 others(24): Show |
DENND5B | ENSG00000170456.16 | transcript | ENST00000389082.10 | protein_coding | 2/20 | chr12 | TogoVar | |||||||
DENND5B_chr12_31377226_31596136 | 31564561 | C | CTATTATT others(2): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01099.hp1 HG01192.hp2 others(12): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0012others(2): Show | a0001c0001t0004a0001c0001t0009a0001c0004t0014others(4): Show | a0001c0001t0004g0040 a0001c0001t0009g0118 a0001c0004t0014g0233 others(12): Show |
15 | 76 | 0.1974 | 9 | c.127 others(28): Show |
DENND5B | ENSG00000170456.16 | transcript | ENST00000389082.10 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
DENND5B_chr12_31377226_31596136 | 31574267 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02280.hp2 HG02965.hp2 others(8): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0003 | a0001c0001t0016a0001c0001t0021a0001c0001t0028others(4): Show | a0001c0001t0016g0296 a0001c0001t0016g0297 a0001c0001t0021g0295 others(8): Show |
11 | 195 | 0.0564 | 9 | c.127 others(28): Show |
DENND5B | ENSG00000170456.16 | transcript | ENST00000389082.10 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
DENND5B_chr12_31377226_31596136 | 31574295 | A | AATAATAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00558.hp2 HG00673.hp1 others(22): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0013a0002c0002t0029others(1): Show | a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0101 others(22): Show |
25 | 230 | 0.1087 | 9 | c.127 others(28): Show |
DENND5B | ENSG00000170456.16 | transcript | ENST00000389082.10 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
DENND5B_chr12_31377226_31596136 | 31574295 | A | AATAATTA others(2): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02622.hp2 HG02647.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0009a0002c0002t0001 | a0001c0001t0009g0121 a0001c0001t0009g0154 a0002c0002t0001g0160 others(3): Show |
6 | 211 | 0.0284 | 9 | c.127 others(28): Show |
DENND5B | ENSG00000170456.16 | transcript | ENST00000389082.10 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
DENND5B_chr12_31377226_31596136 | 31574295 | A | AATTATTA others(2): Show |
intron_variant | MODIFIER | HG01169.hp2 HG01192.hp2 HG03209.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0049 | a0001c0001t0009g0080 a0001c0001t0009g0118 a0001c0001t0009g0120 others(1): Show |
4 | 209 | 0.0191 | 9 | c.127 others(28): Show |
DENND5B | ENSG00000170456.16 | transcript | ENST00000389082.10 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
DENND6B_chr22_50304030_50332012 | 50307773 | G | GGAGGGGG others(2): Show |
downstream_gene_variant | MODIFIER | HG01099.hp1 HG01123.hp1 HG01952.hp2 others(4): Show |
a0001a0004 | a0001c0001a0001c0009a0004c0019 | a0001c0001t0042a0001c0009t0002a0001c0009t0003others(1): Show | a0001c0001t0042g0058 a0001c0009t0002g0063 a0001c0009t0002g0065 others(4): Show |
7 | 126 | 0.0556 | 9 | c.*43 others(20): Show |
DENND6B | ENSG00000205593.12 | transcript | ENST00000413817.8 | protein_coding | 1256 | chr22 | TogoVar | |||||||
DENR_chr12_122747824_122776064 | 122750627 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG01192.hp2 HG01261.hp1 HG01515.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0012 |
7 | 85 | 0.0824 | 9 | c.-23 others(20): Show |
DENR | ENSG00000139726.11 | transcript | ENST00000280557.11 | protein_coding | 2196 | chr12 | TogoVar | |||||||
DEPDC1B_chr5_60591912_60705166 | 60604218 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01069.hp1 HG01070.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 a0001c0001t0001g0237 a0001c0001t0001g0242 others(9): Show |
12 | 134 | 0.0896 | 9 | c.106 others(26): Show |
DEPDC1B | ENSG00000035499.13 | transcript | ENST00000265036.10 | protein_coding | 8/10 | chr5 | TogoVar | |||||||
DEPDC1_chr1_68469152_68502082 | 68480251 | A | AACACCAC others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00544.hp1 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0012a0001c0001t0024others(1): Show | a0001c0001t0002g0003 a0001c0001t0002g0014 a0001c0001t0002g0031 others(17): Show |
43 | 295 | 0.1458 | 9 | c.193 others(26): Show |
DEPDC1 | ENSG00000024526.17 | transcript | ENST00000456315.7 | protein_coding | 9/11 | chr1 | TogoVar | |||||||
DEPDC4_chr12_100235062_100272079 | 100259081 | A | AAAAATAT others(2): Show |
intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02055.hp2 others(5): Show |
a0002 | a0002c0002a0002c0016 | a0002c0002t0001a0002c0016t0001 | a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 others(5): Show |
8 | 274 | 0.0292 | 9 | c.701 others(26): Show |
DEPDC4 | ENSG00000166153.17 | transcript | ENST00000550587.6 | protein_coding | 3/9 | chr12 | TogoVar | |||||||
DEPDC5_chr22_31749019_31913033 | 31887419 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01106.hp1 HG01255.hp1 others(21): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0006others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(3): Show | a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0113 others(21): Show |
24 | 104 | 0.2308 | 9 | c.403 others(28): Show |
DEPDC5 | ENSG00000100150.20 | transcript | ENST00000651528.2 | protein_coding | 38/42 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
DEPDC7_chr11_33010878_33038582 | 33037635 | C | CTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00597.hp1 HG01243.hp2 HG02273.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0017 others(2): Show |
17 | 24 | 0.7083 | 9 | c.*41 others(20): Show |
DEPDC7 | ENSG00000121690.11 | transcript | ENST00000241051.8 | protein_coding | 4054 | chr11 | TogoVar | |||||||
DEPTOR_chr8_119868722_120055918 | 119923893 | C | CTTTTCTT others(2): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01361.hp1 HG02027.hp1 others(13): Show |
a0001a0002a0006 | a0001c0002a0001c0012a0002c0005others(1): Show | a0001c0002t0001a0001c0002t0004a0001c0002t0018others(4): Show | a0001c0002t0001g0067 a0001c0002t0001g0069 a0001c0002t0001g0070 others(13): Show |
16 | 111 | 0.1441 | 9 | c.123 others(26): Show |
DEPTOR | ENSG00000155792.10 | transcript | ENST00000286234.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DEPTOR_chr8_119868722_120055918 | 120027234 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG00735.hp2 others(59): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0003a0002c0001others(8): Show | a0001c0002t0001a0001c0002t0006a0001c0003t0001others(16): Show | a0001c0002t0001g0187 a0001c0002t0006g0183 a0001c0002t0006g0184 others(59): Show |
62 | 94 | 0.6596 | 9 | c.110 others(30): Show |
DEPTOR | ENSG00000155792.10 | transcript | ENST00000286234.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DERA_chr12_15906332_16042381 | 15949458 | A | AGGCTCCG others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00621.hp1 others(50): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(49): Show |
53 | 256 | 0.2070 | 9 | c.32- others(24): Show |
DERA | ENSG00000023697.13 | transcript | ENST00000428559.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DERL3_chr22_23829503_23844006 | 23833043 | C | CAAGTGTG others(2): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 NA18940.hp2 NA18947.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0041 a0001c0001t0003g0004 |
11 | 429 | 0.0256 | 9 | c.*38 others(20): Show |
DERL3 | ENSG00000099958.15 | transcript | ENST00000318109.12 | protein_coding | 1459 | chr22 | TogoVar | |||||||
DESI1_chr22_41593028_41626043 | 41614590 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01243.hp2 HG01496.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0006 a0001c0001t0004g0194 a0001c0001t0004g0195 others(5): Show |
12 | 63 | 0.1905 | 9 | c.88+ others(24): Show |
DESI1 | ENSG00000100418.8 | transcript | ENST00000263256.7 | protein_coding | 1/5 | chr22 | TogoVar | |||||||
DES_chr2_219413377_219431734 | 219422463 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01081.hp1 HG01167.hp1 others(12): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0001a0001c0005t0001a0001c0005t0003 | a0001c0002t0001g0008 a0001c0002t0001g0023 a0001c0005t0001g0038 others(2): Show |
15 | 25 | 0.6000 | 9 | c.124 others(26): Show |
DES | ENSG00000175084.13 | transcript | ENST00000373960.4 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DET1_chr15_88507480_88551681 | 88515538 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00733.hp2 HG00741.hp1 others(15): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0006 | a0001c0001t0002a0001c0002t0002a0002c0006t0002 | a0001c0001t0002g0002 a0001c0001t0002g0020 a0001c0001t0002g0027 others(13): Show |
18 | 174 | 0.1034 | 9 | c.146 others(28): Show |
DET1 | ENSG00000140543.15 | transcript | ENST00000268148.13 | protein_coding | 4/4 | chr15 | TogoVar | |||||||
DET1_chr15_88507480_88551681 | 88536770 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG02027.hp2 others(15): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0008 | a0001c0001t0001a0001c0003t0001a0003c0008t0001 | a0001c0001t0001g0053 a0001c0001t0001g0202 a0001c0001t0001g0204 others(15): Show |
18 | 289 | 0.0623 | 9 | c.-10 others(26): Show |
DET1 | ENSG00000140543.15 | transcript | ENST00000268148.13 | protein_coding | 1/4 | chr15 | TogoVar | |||||||
DET1_chr15_88507480_88551681 | 88545664 | T | TCAATATA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(294): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 others(244): Show |
297 | 400 | 0.7425 | 9 | c.-11 others(24): Show |
DET1 | ENSG00000140543.15 | transcript | ENST00000268148.13 | protein_coding | 1/4 | chr15 | TogoVar | |||||||
DFFB_chr1_3852476_3890429 | 3852901 | C | CGGCCAAG others(2): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(137): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(25): Show | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0021 others(106): Show |
140 | 402 | 0.3483 | 9 | c.-47 others(20): Show |
DFFB | ENSG00000169598.17 | transcript | ENST00000378209.8 | protein_coding | 4574 | chr1 | TogoVar | |||||||
DGCR2_chr22_19031286_19127412 | 19044242 | G | GCCCAGGG others(2): Show |
intron_variant | MODIFIER | HG02074.hp2 HG02165.hp2 NA18944.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0225 a0001c0001t0001g0249 a0001c0001t0001g0314 |
3 | 342 | 0.0088 | 9 | c.100 others(28): Show |
DGCR2 | ENSG00000070413.21 | transcript | ENST00000263196.12 | protein_coding | 7/9 | chr22 | TogoVar | |||||||
DGCR8_chr22_20075241_20116872 | 20077152 | G | GTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00609.hp2 HG00621.hp1 HG00621.hp2 others(17): Show |
a0001a0009 | a0001c0001a0009c0008 | a0001c0001t0003a0001c0001t0007a0009c0008t0003 | a0001c0001t0003g0002 a0001c0001t0003g0008 a0001c0001t0003g0016 others(11): Show |
20 | 299 | 0.0669 | 9 | c.-35 others(20): Show |
DGCR8 | ENSG00000128191.17 | transcript | ENST00000351989.8 | protein_coding | 3088 | chr22 | TogoVar | |||||||
DGKB_chr7_14140049_14907751 | 14265318 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01169.hp2 HG02056.hp2 others(5): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0002t0002a0001c0004t0001others(3): Show | a0001c0001t0001g0045 a0001c0001t0001g0098 a0001c0002t0002g0129 others(5): Show |
8 | 28 | 0.2857 | 9 | c.212 others(30): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 23/25 | chr7 | TogoVar | |||||||
DGKB_chr7_14140049_14907751 | 14418734 | T | TTCATTAG others(2): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01993.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0039a0001c0002t0002 | a0001c0001t0039g0022 a0001c0002t0002g0020 |
2 | 146 | 0.0137 | 9 | c.183 others(30): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 21/25 | chr7 | TogoVar | |||||||
DGKB_chr7_14140049_14907751 | 14689199 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02145.hp1 HG02280.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0041a0001c0002t0003a0001c0003t0036others(1): Show | a0001c0001t0041g0147 a0001c0002t0003g0010 a0001c0002t0003g0058 others(3): Show |
6 | 38 | 0.1579 | 9 | c.712 others(26): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 9/25 | chr7 | TogoVar | |||||||
DGKB_chr7_14140049_14907751 | 14758928 | G | GATAGATA others(2): Show |
intron_variant | MODIFIER | HG01081.hp1 HG03471.hp1 |
a0001 | a0001c0002a0001c0012 | a0001c0002t0013a0001c0012t0003 | a0001c0002t0013g0104 a0001c0012t0003g0015 |
2 | 118 | 0.0169 | 9 | c.71- others(24): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 2/25 | chr7 | TogoVar | |||||||
DGKE_chr17_56829151_56874567 | 56872549 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00738.hp1 HG01934.hp1 HG01978.hp2 others(3): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0011 | a0001c0001t0009a0001c0001t0012a0001c0002t0055others(1): Show | a0001c0001t0009g0009 a0001c0001t0009g0141 a0001c0001t0012g0038 others(2): Show |
6 | 206 | 0.0291 | 9 | c.*97 others(20): Show |
DGKE | ENSG00000153933.10 | transcript | ENST00000284061.8 | protein_coding | 2983 | chr17 | TogoVar | |||||||
DGKG_chr3_186142201_186367234 | 186146024 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 HG00741.hp2 HG01167.hp1 others(13): Show |
a0001a0002a0003 | a0001c0002a0002c0001a0002c0005others(1): Show | a0001c0002t0002a0001c0002t0009a0001c0002t0024others(4): Show | a0001c0002t0002g0033 a0001c0002t0002g0036 a0001c0002t0002g0056 others(13): Show |
16 | 45 | 0.3556 | 9 | c.*40 others(20): Show |
DGKG | ENSG00000058866.15 | transcript | ENST00000265022.8 | protein_coding | 1176 | chr3 | TogoVar | |||||||
DGKG_chr3_186142201_186367234 | 186194803 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01069.hp1 HG01069.hp2 others(5): Show |
a0001a0002a0003others(2): Show | a0001c0002a0002c0001a0002c0005others(4): Show | a0001c0002t0001a0001c0002t0009a0002c0001t0017others(5): Show | a0001c0002t0001g0137 a0001c0002t0009g0186 a0002c0001t0017g0006 others(5): Show |
8 | 52 | 0.1538 | 9 | c.191 others(28): Show |
DGKG | ENSG00000058866.15 | transcript | ENST00000265022.8 | protein_coding | 21/24 | chr3 | TogoVar | |||||||
DGKG_chr3_186142201_186367234 | 186299840 | T | TCTTTCTT others(2): Show |
intron_variant | MODIFIER | HG01074.hp2 HG03492.hp1 |
a0001 | a0001c0002a0001c0015 | a0001c0002t0006a0001c0015t0003 | a0001c0002t0006g0144 a0001c0015t0003g0224 |
2 | 228 | 0.0088 | 9 | c.145 others(26): Show |
DGKG | ENSG00000058866.15 | transcript | ENST00000265022.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
DGKG_chr3_186142201_186367234 | 186310265 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00741.hp2 HG01070.hp2 others(36): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0002c0001others(5): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0004others(24): Show | a0001c0002t0002g0023 a0001c0002t0002g0036 a0001c0002t0002g0085 others(36): Show |
39 | 88 | 0.4432 | 9 | c.68- others(24): Show |
DGKG | ENSG00000058866.15 | transcript | ENST00000265022.8 | protein_coding | 2/24 | chr3 | TogoVar | |||||||
DGKH_chr13_42043648_42247896 | 42049052 | C | CGGGAAGG others(2): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02647.hp1 HG03486.hp1 others(1): Show |
a0001a0009 | a0001c0002a0001c0004a0009c0015 | a0001c0002t0024a0001c0002t0028a0001c0004t0001others(1): Show | a0001c0002t0024g0007 a0001c0002t0028g0006 a0001c0004t0001g0008 others(1): Show |
4 | 26 | 0.1538 | 9 | c.192 others(24): Show |
DGKH | ENSG00000102780.17 | transcript | ENST00000337343.9 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
DGKH_chr13_42043648_42247896 | 42095156 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01070.hp2 HG01074.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0031a0001c0001t0032others(10): Show | a0001c0001t0002g0040 a0001c0001t0002g0083 a0001c0001t0002g0098 others(16): Show |
19 | 158 | 0.1203 | 9 | c.193 others(28): Show |
DGKH | ENSG00000102780.17 | transcript | ENST00000337343.9 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
DGKH_chr13_42043648_42247896 | 42135507 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02074.hp1 HG02145.hp2 HG04204.hp1 others(11): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0066a0001c0003t0006a0001c0003t0106others(2): Show | a0001c0002t0066g0176 a0001c0003t0006g0174 a0001c0003t0006g0175 others(11): Show |
14 | 232 | 0.0603 | 9 | c.384 others(26): Show |
DGKH | ENSG00000102780.17 | transcript | ENST00000337343.9 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
DGKH_chr13_42043648_42247896 | 42159244 | C | CTTTTTTT others(2): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG00438.hp1 HG00438.hp2 HG00597.hp1 others(66): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0002a0001c0001t0015a0001c0001t0020others(40): Show | a0001c0001t0002g0052 a0001c0001t0002g0083 a0001c0001t0002g0097 others(66): Show |
69 | 83 | 0.8313 | 9 | c.623 others(21): Show |
DGKH | ENSG00000102780.17 | transcript | ENST00000337343.9 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
DGKI_chr7_137376037_137851974 | 137588475 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02895.hp2 HG02976.hp1 others(2): Show |
a0001 | a0001c0002a0001c0004a0001c0008others(2): Show | a0001c0002t0034a0001c0004t0003a0001c0008t0019others(2): Show | a0001c0002t0034g0009 a0001c0004t0003g0089 a0001c0008t0019g0059 others(2): Show |
5 | 59 | 0.0847 | 9 | c.131 others(28): Show |
DGKI | ENSG00000157680.17 | transcript | ENST00000614521.2 | protein_coding | 12/32 | chr7 | TogoVar | |||||||
DGKI_chr7_137376037_137851974 | 137618152 | T | TATGTATA others(2): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02886.hp1 HG02922.hp2 others(1): Show |
a0001 | a0001c0006a0001c0009a0001c0017 | a0001c0006t0013a0001c0009t0010a0001c0009t0044others(1): Show | a0001c0006t0013g0010 a0001c0009t0010g0084 a0001c0009t0044g0066 others(1): Show |
4 | 88 | 0.0455 | 9 | c.993 others(26): Show |
DGKI | ENSG00000157680.17 | transcript | ENST00000614521.2 | protein_coding | 8/32 | chr7 | TogoVar | |||||||
DGKI_chr7_137376037_137851974 | 137679990 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02109.hp2 HG02280.hp1 others(3): Show |
a0001 | a0001c0001a0001c0004a0001c0006others(3): Show | a0001c0001t0007a0001c0004t0010a0001c0006t0013others(3): Show | a0001c0001t0007g0008 a0001c0004t0010g0078 a0001c0006t0013g0010 others(3): Show |
6 | 49 | 0.1224 | 9 | c.511 others(26): Show |
DGKI | ENSG00000157680.17 | transcript | ENST00000614521.2 | protein_coding | 2/32 | chr7 | TogoVar | |||||||
DGKK_chrX_50360409_50475825 | 50428195 | A | AATTATTA others(2): Show |
intron_variant | MODIFIER | HG02970.hp1 HG03471.hp1 HG03486.hp1 |
a0005 | a0005c0008 | a0005c0008t0003 | a0005c0008t0003g0020 a0005c0008t0003g0164 a0005c0008t0003g0190 |
3 | 159 | 0.0189 | 9 | c.646 others(26): Show |
DGKK | ENSG00000274588.2 | transcript | ENST00000611977.2 | protein_coding | 1/27 | chrX | TogoVar | |||||||
DGLUCY_chr14_91109073_91230632 | 91185271 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01109.hp2 HG02630.hp1 others(3): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0022others(2): Show | a0001c0001t0001a0001c0001t0005a0002c0002t0001others(3): Show | a0001c0001t0001g0216 a0001c0001t0005g0213 a0002c0002t0001g0004 others(3): Show |
6 | 49 | 0.1224 | 9 | c.935 others(26): Show |
DGLUCY | ENSG00000133943.21 | transcript | ENST00000256324.15 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DGLUCY_chr14_91109073_91230632 | 91202058 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02622.hp2 HG02717.hp1 others(7): Show |
a0002a0005a0011others(2): Show | a0002c0002a0005c0009a0011c0016others(2): Show | a0002c0002t0001a0005c0009t0001a0011c0016t0001others(2): Show | a0002c0002t0001g0128 a0005c0009t0001g0145 a0005c0009t0001g0146 others(7): Show |
10 | 66 | 0.1515 | 9 | c.144 others(28): Show |
DGLUCY | ENSG00000133943.21 | transcript | ENST00000256324.15 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DGLUCY_chr14_91109073_91230632 | 91205754 | C | CTCTTCTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01081.hp2 HG01109.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001a0003c0003t0003 | a0001c0001t0001g0064 a0001c0001t0001g0071 a0003c0003t0001g0104 others(2): Show |
5 | 22 | 0.2273 | 9 | c.156 others(26): Show |
DGLUCY | ENSG00000133943.21 | transcript | ENST00000256324.15 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DGLUCY_chr14_91109073_91230632 | 91207161 | G | GAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00642.hp1 HG00733.hp2 others(52): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0010a0002c0002t0001others(8): Show | a0001c0001t0001g0047 a0001c0001t0001g0059 a0001c0001t0001g0062 others(52): Show |
55 | 57 | 0.9649 | 9 | c.156 others(28): Show |
DGLUCY | ENSG00000133943.21 | transcript | ENST00000256324.15 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar |