regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GOLT1B_chr12_21496789_21523408 | 21507514 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(204): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0120a0001c0001t0002g0001a0001c0001t0002g0006others(84): Show | 207 | 430 | 0.4814 | 8 | c.117 others(23): Show |
GOLT1B | ENSG00000111711.10 | transcript | ENST00000229314.10 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
GOLT1B_chr12_21496789_21523408 | 21508875 | C | CGGTACGT others(1): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 HG02965.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0055a0001c0001t0006g0056a0001c0001t0006g0057others(1): Show | 7 | 430 | 0.0163 | 8 | c.296 others(23): Show |
GOLT1B | ENSG00000111711.10 | transcript | ENST00000229314.10 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
GOLT1B_chr12_21496789_21523408 | 21508889 | G | GTAGATAG others(1): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02622.hp1 HG02647.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006 | a0001c0001t0001g0041a0001c0001t0003g0033a0001c0001t0003g0150others(2): Show | 9 | 430 | 0.0209 | 8 | c.296 others(23): Show |
GOLT1B | ENSG00000111711.10 | transcript | ENST00000229314.10 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
GOLT1B_chr12_21496789_21523408 | 21508919 | A | AGATAGAT others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00621.hp1 HG01168.hp2 others(41): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0009a0001c0001t0001g0087a0001c0001t0001g0088others(22): Show | 44 | 430 | 0.1023 | 8 | c.296 others(23): Show |
GOLT1B | ENSG00000111711.10 | transcript | ENST00000229314.10 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
GON4L_chr1_155744659_155862214 | 155809992 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01106.hp2 HG01433.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(3): Show | 6 | 218 | 0.0275 | 8 | c.145 others(27): Show |
GON4L | ENSG00000116580.20 | transcript | ENST00000368331.6 | protein_coding | 10/31 | chr1 | TogoVar | ||||||
GON4L_chr1_155744659_155862214 | 155810008 | A | ATATATAT others(1): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02965.hp2 NA19030.hp2 others(1): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0006a0001c0006t0004 | a0001c0001t0006g0016a0001c0006t0004g0210a0001c0006t0004g0211others(1): Show | 4 | 218 | 0.0184 | 8 | c.145 others(27): Show |
GON4L | ENSG00000116580.20 | transcript | ENST00000368331.6 | protein_coding | 10/31 | chr1 | TogoVar | ||||||
GON4L_chr1_155744659_155862214 | 155811754 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01981.hp2 HG02083.hp1 HG04228.hp2 others(7): Show |
a0002 | a0002c0002a0002c0021 | a0002c0002t0001a0002c0021t0001 | a0002c0002t0001g0094a0002c0002t0001g0108a0002c0002t0001g0110others(7): Show | 10 | 218 | 0.0459 | 8 | c.145 others(27): Show |
GON4L | ENSG00000116580.20 | transcript | ENST00000368331.6 | protein_coding | 10/31 | chr1 | TogoVar | ||||||
GON4L_chr1_155744659_155862214 | 155833738 | G | GGGAGGAG others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(171): Show |
a0001a0002a0005others(8): Show | a0001c0001a0001c0003a0001c0008others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(22): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(171): Show | 174 | 218 | 0.7982 | 8 | c.506 others(25): Show |
GON4L | ENSG00000116580.20 | transcript | ENST00000368331.6 | protein_coding | 2/31 | chr1 | TogoVar | ||||||
GON7_chr14_93197894_93212065 | 93210068 | A | AATTTATT others(1): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 HG02055.hp1 HG02970.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002a0001c0001t0002g0005 | 5 | 413 | 0.0121 | 8 | c.-30 others(19): Show |
GON7 | ENSG00000170270.5 | transcript | ENST00000306954.5 | protein_coding | 3004 | chr14 | TogoVar | ||||||
GOPC_chr6_117555269_117607511 | 117582273 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01168.hp1 HG01192.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0223a0001c0001t0002g0024a0001c0001t0003g0061others(13): Show | 21 | 382 | 0.0550 | 8 | c.286 others(25): Show |
GOPC | ENSG00000047932.14 | transcript | ENST00000368498.7 | protein_coding | 1/8 | chr6 | TogoVar | ||||||
GORASP1_chr3_39091599_39112627 | 39092876 | T | TACACACA others(1): Show |
downstream_gene_variant | MODIFIER | HG02056.hp1 HG02148.hp2 HG02630.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0004a0001c0001t0002g0019a0001c0001t0003g0056others(3): Show | 8 | 408 | 0.0196 | 8 | c.*53 others(19): Show |
GORASP1 | ENSG00000114745.15 | transcript | ENST00000319283.8 | protein_coding | 3722 | chr3 | TogoVar | ||||||
GORASP2_chr2_170924253_170972130 | 170926934 | A | AAAAGAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG02257.hp2 HG02572.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034a0001c0001t0001g0065a0001c0001t0001g0204 | 3 | 382 | 0.0079 | 8 | c.-24 others(19): Show |
GORASP2 | ENSG00000115806.13 | transcript | ENST00000234160.5 | protein_coding | 2318 | chr2 | TogoVar | ||||||
GOSR1_chr17_30472408_30532592 | 30494192 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(128): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0008a0001c0001t0011others(18): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(103): Show | 131 | 306 | 0.4281 | 8 | c.509 others(25): Show |
GOSR1 | ENSG00000108587.16 | transcript | ENST00000451249.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
GOT1_chr10_99391870_99435624 | 99405520 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01070.hp2 HG01099.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0021a0001c0001t0001g0170a0001c0001t0001g0171others(6): Show | 12 | 354 | 0.0339 | 8 | c.642 others(23): Show |
GOT1 | ENSG00000120053.12 | transcript | ENST00000370508.7 | protein_coding | 5/8 | chr10 | TogoVar | ||||||
GOT1_chr10_99391870_99435624 | 99407783 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01099.hp2 HG01106.hp2 others(38): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0019others(23): Show | 41 | 354 | 0.1158 | 8 | c.301 others(23): Show |
GOT1 | ENSG00000120053.12 | transcript | ENST00000370508.7 | protein_coding | 2/8 | chr10 | TogoVar | ||||||
GOT2_chr16_58702131_58739316 | 58726483 | C | CTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(127): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0010a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0105a0001c0001t0001g0154a0001c0001t0002g0003others(72): Show | 130 | 400 | 0.3250 | 8 | c.90- others(23): Show |
GOT2 | ENSG00000125166.13 | transcript | ENST00000245206.10 | protein_coding | 1/9 | chr16 | TogoVar | ||||||
GP6_chr19_55008705_55043264 | 55024358 | A | ACATGCAC others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(19): Show |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0086a0002c0004t0001g0087a0002c0004t0001g0088others(19): Show | 22 | 441 | 0.0499 | 8 | c.664 others(23): Show |
GP6 | ENSG00000088053.11 | transcript | ENST00000310373.7 | protein_coding | 5/7 | chr19 | TogoVar | ||||||
GP6_chr19_55008705_55043264 | 55034149 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG06807.hp1 NA18982.hp1 NA18994.hp2 |
a0001a0005a0007 | a0001c0001a0005c0006a0007c0009 | a0001c0001t0001a0005c0006t0001a0007c0009t0002 | a0001c0001t0001g0191a0005c0006t0001g0183a0007c0009t0002g0077 | 3 | 441 | 0.0068 | 8 | c.35- others(23): Show |
GP6 | ENSG00000088053.11 | transcript | ENST00000310373.7 | protein_coding | 1/7 | chr19 | TogoVar | ||||||
GP6_chr19_55008705_55043264 | 55034150 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG01109.hp1 others(26): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0004a0003c0016others(2): Show | a0001c0001t0001a0002c0004t0001a0003c0016t0003others(2): Show | a0001c0001t0001g0074a0001c0001t0001g0130a0001c0001t0001g0138others(26): Show | 29 | 441 | 0.0658 | 8 | c.35- others(23): Show |
GP6 | ENSG00000088053.11 | transcript | ENST00000310373.7 | protein_coding | 1/7 | chr19 | TogoVar | ||||||
GP6_chr19_55008705_55043264 | 55034716 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG01069.hp1 others(19): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0002c0018others(5): Show | a0001c0001t0001a0002c0002t0001a0002c0018t0001others(6): Show | a0001c0001t0001g0083a0001c0001t0001g0354a0001c0001t0001g0412others(19): Show | 22 | 441 | 0.0499 | 8 | c.35- others(23): Show |
GP6 | ENSG00000088053.11 | transcript | ENST00000310373.7 | protein_coding | 1/7 | chr19 | TogoVar | ||||||
GPA33_chr1_167047836_167095377 | 167062646 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00735.hp2 HG00741.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0035a0001c0001t0001g0197others(7): Show | 19 | 370 | 0.0514 | 8 | c.571 others(23): Show |
GPA33 | ENSG00000143167.12 | transcript | ENST00000367868.4 | protein_coding | 4/6 | chr1 | TogoVar | ||||||
GPA33_chr1_167047836_167095377 | 167067275 | A | AATTTATT others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01167.hp1 HG01169.hp2 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0026a0001c0001t0001g0183a0001c0001t0001g0207others(10): Show | 16 | 370 | 0.0432 | 8 | c.415 others(25): Show |
GPA33 | ENSG00000143167.12 | transcript | ENST00000367868.4 | protein_coding | 3/6 | chr1 | TogoVar | ||||||
GPAA1_chr8_144077634_144091216 | 144089575 | T | TATATATA others(1): Show |
downstream_gene_variant | MODIFIER | HG01496.hp1 HG01516.hp1 HG01517.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 4 | 338 | 0.0118 | 8 | c.*34 others(19): Show |
GPAA1 | ENSG00000197858.12 | transcript | ENST00000355091.9 | protein_coding | 3360 | chr8 | TogoVar | ||||||
GPAA1_chr8_144077634_144091216 | 144089577 | T | TATATATA others(1): Show |
downstream_gene_variant | MODIFIER | HG01255.hp2 HG01993.hp1 HG02040.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 7 | 338 | 0.0207 | 8 | c.*34 others(19): Show |
GPAA1 | ENSG00000197858.12 | transcript | ENST00000355091.9 | protein_coding | 3362 | chr8 | TogoVar | ||||||
GPAA1_chr8_144077634_144091216 | 144089578 | A | ATATATAC others(1): Show |
downstream_gene_variant | MODIFIER | HG01981.hp1 HG02071.hp2 HG02165.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 9 | 338 | 0.0266 | 8 | c.*34 others(19): Show |
GPAA1 | ENSG00000197858.12 | transcript | ENST00000355091.9 | protein_coding | 3363 | chr8 | TogoVar | ||||||
GPALPP1_chr13_44984538_45035305 | 44995169 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01993.hp1 HG02056.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0021others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0016a0001c0001t0001g0085others(13): Show | 20 | 348 | 0.0575 | 8 | c.88+ others(23): Show |
GPALPP1 | ENSG00000133114.18 | transcript | ENST00000379151.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
GPALPP1_chr13_44984538_45035305 | 45024262 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02132.hp2 HG02145.hp2 HG02258.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0116a0001c0001t0002g0216a0001c0001t0002g0225others(9): Show | 12 | 348 | 0.0345 | 8 | c.805 others(25): Show |
GPALPP1 | ENSG00000133114.18 | transcript | ENST00000379151.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
GPAT2_chr2_96016946_96039916 | 96037026 | T | TTCTCTCT others(1): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 HG02056.hp1 HG02717.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0018 | 3 | 422 | 0.0071 | 8 | c.-22 others(19): Show |
GPAT2 | ENSG00000186281.13 | transcript | ENST00000434632.6 | protein_coding | 2111 | chr2 | TogoVar | ||||||
GPAT3_chr4_83531108_83610875 | 83532939 | T | TTATATAT others(1): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00642.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0178a0001c0001t0002g0183a0001c0001t0002g0184others(29): Show | 32 | 334 | 0.0958 | 8 | c.-36 others(19): Show |
GPAT3 | ENSG00000138678.11 | transcript | ENST00000264409.5 | protein_coding | 3168 | chr4 | TogoVar | ||||||
GPAT3_chr4_83531108_83610875 | 83537591 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00733.hp2 HG02486.hp2 HG02809.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004 | a0001c0001t0002g0183a0001c0001t0002g0184a0001c0001t0002g0185others(7): Show | 10 | 334 | 0.0299 | 8 | c.141 others(23): Show |
GPAT3 | ENSG00000138678.11 | transcript | ENST00000264409.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GPAT3_chr4_83531108_83610875 | 83551813 | A | AATCTATC others(1): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02486.hp2 HG02572.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0002g0039a0001c0001t0002g0183a0001c0001t0002g0189others(13): Show | 16 | 334 | 0.0479 | 8 | c.208 others(25): Show |
GPAT3 | ENSG00000138678.11 | transcript | ENST00000264409.5 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GPAT3_chr4_83531108_83610875 | 83562795 | T | TATAGATA others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(61): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0048a0001c0001t0001g0049a0001c0001t0001g0058others(61): Show | 64 | 334 | 0.1916 | 8 | c.208 others(27): Show |
GPAT3 | ENSG00000138678.11 | transcript | ENST00000264409.5 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GPAT3_chr4_83531108_83610875 | 83576412 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01891.hp1 HG02559.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0142a0001c0001t0002g0185a0001c0001t0002g0213others(16): Show | 19 | 334 | 0.0569 | 8 | c.209 others(25): Show |
GPAT3 | ENSG00000138678.11 | transcript | ENST00000264409.5 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GPAT3_chr4_83531108_83610875 | 83578857 | T | TTTCCTTC others(1): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02258.hp1 HG02809.hp1 others(6): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0001t0005a0001c0001t0012others(3): Show | a0001c0001t0003g0014a0001c0001t0003g0193a0001c0001t0005g0006others(6): Show | 9 | 334 | 0.0270 | 8 | c.209 others(25): Show |
GPAT3 | ENSG00000138678.11 | transcript | ENST00000264409.5 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GPAT3_chr4_83531108_83610875 | 83579017 | C | CCTTTCTT others(1): Show |
intron_variant | MODIFIER | HG01891.hp2 NA18944.hp1 NA18964.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093a0001c0001t0001g0097a0001c0001t0001g0142others(1): Show | 4 | 334 | 0.0120 | 8 | c.209 others(25): Show |
GPAT3 | ENSG00000138678.11 | transcript | ENST00000264409.5 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GPAT3_chr4_83531108_83610875 | 83579081 | C | CCCTTCCT others(1): Show |
intron_variant | MODIFIER | HG01993.hp1 HG02015.hp1 HG02145.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0069a0001c0001t0001g0070a0001c0001t0001g0081others(7): Show | 10 | 334 | 0.0299 | 8 | c.209 others(25): Show |
GPAT3 | ENSG00000138678.11 | transcript | ENST00000264409.5 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GPAT4_chr8_41573200_41630001 | 41582444 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007a0001c0001t0017others(1): Show | a0001c0001t0004g0013a0001c0001t0004g0288a0001c0001t0004g0289others(10): Show | 15 | 410 | 0.0366 | 8 | c.-84 others(27): Show |
GPAT4 | ENSG00000158669.11 | transcript | ENST00000396987.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
GPAT4_chr8_41573200_41630001 | 41582674 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG02004.hp2 HG02055.hp2 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0031 | a0001c0001t0002g0312a0001c0001t0002g0313a0001c0001t0002g0314others(29): Show | 36 | 410 | 0.0878 | 8 | c.-84 others(27): Show |
GPAT4 | ENSG00000158669.11 | transcript | ENST00000396987.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
GPAT4_chr8_41573200_41630001 | 41582694 | T | TGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00597.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0013a0001c0001t0004g0015a0001c0001t0004g0288others(11): Show | 18 | 410 | 0.0439 | 8 | c.-84 others(27): Show |
GPAT4 | ENSG00000158669.11 | transcript | ENST00000396987.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
GPAT4_chr8_41573200_41630001 | 41600036 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00621.hp1 HG00639.hp2 others(51): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0010others(3): Show | a0001c0001t0003g0003a0001c0001t0003g0009a0001c0001t0003g0016others(43): Show | 54 | 410 | 0.1317 | 8 | c.165 others(23): Show |
GPAT4 | ENSG00000158669.11 | transcript | ENST00000396987.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
GPAT4_chr8_41573200_41630001 | 41603896 | A | AGAATGAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00673.hp2 HG01109.hp2 others(50): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0033others(4): Show | a0001c0001t0001g0029a0001c0001t0001g0101a0001c0001t0001g0129others(49): Show | 53 | 410 | 0.1293 | 8 | c.165 others(25): Show |
GPAT4 | ENSG00000158669.11 | transcript | ENST00000396987.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
GPATCH11_chr2_37079518_37104244 | 37082086 | T | TTTTTTTT others(1): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00642.hp1 HG01361.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0045a0001c0001t0002g0001others(5): Show | 16 | 434 | 0.0369 | 8 | c.-24 others(19): Show |
GPATCH11 | ENSG00000152133.17 | transcript | ENST00000674370.2 | protein_coding | 2431 | chr2 | TogoVar | ||||||
GPATCH1_chr19_33076181_33135542 | 33123073 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG02004.hp1 HG02074.hp1 HG02523.hp2 others(6): Show |
a0001a0002 | a0001c0003a0001c0006a0002c0002 | a0001c0003t0001a0001c0006t0001a0001c0006t0002others(1): Show | a0001c0003t0001g0046a0001c0003t0001g0056a0001c0006t0001g0029others(6): Show | 9 | 380 | 0.0237 | 8 | c.252 others(27): Show |
GPATCH1 | ENSG00000076650.7 | transcript | ENST00000170564.7 | protein_coding | 17/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
GPATCH1_chr19_33076181_33135542 | 33133157 | G | GAATAAAT others(1): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 HG02258.hp1 HG02280.hp2 others(24): Show |
a0001a0005a0006 | a0001c0003a0001c0007a0001c0013others(2): Show | a0001c0003t0001a0001c0003t0002a0001c0007t0002others(3): Show | a0001c0003t0001g0046a0001c0003t0001g0050a0001c0003t0001g0056others(24): Show | 27 | 380 | 0.0711 | 8 | c.*29 others(19): Show |
GPATCH1 | ENSG00000076650.7 | transcript | ENST00000170564.7 | protein_coding | 2616 | chr19 | TogoVar | ||||||
GPATCH1_chr19_33076181_33135542 | 33133210 | G | GAGAGAGA others(1): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 HG02258.hp1 HG02647.hp2 others(2): Show |
a0001a0006 | a0001c0007a0006c0010 | a0001c0007t0002a0006c0010t0001 | a0001c0007t0002g0293a0006c0010t0001g0164a0006c0010t0001g0165others(2): Show | 5 | 380 | 0.0132 | 8 | c.*30 others(19): Show |
GPATCH1 | ENSG00000076650.7 | transcript | ENST00000170564.7 | protein_coding | 2669 | chr19 | TogoVar | ||||||
GPATCH2L_chr14_76146922_76219343 | 76194484 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(119): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0014others(17): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0007others(80): Show | 122 | 402 | 0.3035 | 8 | c.119 others(27): Show |
GPATCH2L | ENSG00000089916.18 | transcript | ENST00000261530.12 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
GPATCH2L_chr14_76146922_76219343 | 76202536 | T | TACACACA others(1): Show |
3_prime_UTR_variant | MODIFIER | HG01934.hp2 HG02559.hp2 HG02615.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0026a0001c0001t0047others(1): Show | a0001c0001t0013g0123a0001c0001t0013g0126a0001c0001t0013g0135others(7): Show | 10 | 402 | 0.0249 | 8 | c.*70 others(17): Show |
GPATCH2L | ENSG00000089916.18 | transcript | ENST00000261530.12 | protein_coding | 10/10 | 713 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||
GPATCH2_chr1_217421992_217636090 | 217476235 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02145.hp2 HG02280.hp1 others(8): Show |
a0001a0003 | a0001c0001a0001c0005a0003c0003 | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(6): Show | a0001c0001t0004g0111a0001c0001t0006g0143a0001c0001t0007g0078others(8): Show | 11 | 188 | 0.0585 | 8 | c.127 others(29): Show |
GPATCH2 | ENSG00000092978.11 | transcript | ENST00000366935.8 | protein_coding | 8/9 | chr1 | TogoVar | ||||||
GPATCH2_chr1_217421992_217636090 | 217521358 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00621.hp2 others(75): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0008a0001c0001t0001g0010a0001c0001t0001g0016others(75): Show | 78 | 188 | 0.4149 | 8 | c.109 others(27): Show |
GPATCH2 | ENSG00000092978.11 | transcript | ENST00000366935.8 | protein_coding | 5/9 | chr1 | TogoVar | ||||||
GPATCH2_chr1_217421992_217636090 | 217524873 | A | AGAGGGGG others(1): Show |
intron_variant | MODIFIER | HG01243.hp1 HG03516.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0043a0001c0004t0008 | a0001c0001t0043g0142a0001c0004t0008g0097 | 2 | 188 | 0.0106 | 8 | c.109 others(27): Show |
GPATCH2 | ENSG00000092978.11 | transcript | ENST00000366935.8 | protein_coding | 5/9 | chr1 | TogoVar |