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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GOLGA6L22_chr15_22453903_22474226 | 22455497 | AAATAAAT | A | upstream_gene_variant | MODIFIER | HG02451.hp1 HG02451.hp2 HG02886.hp1 |
a0011a0032 | a0011c0014a0032c0064 | a0011c0014t0006a0032c0064t0006 | a0011c0014t0006g0015 a0011c0014t0006g0060 a0032c0064t0006g0054 |
3 | 226 | 0.0133 | -7 | c.-34 others(18): Show |
GOLGA6L22 | ENSG00000277865.6 | transcript | ENST00000622895.2 | protein_coding | 3405 | chr15 | TogoVar | |||||||
GOLGA6L24_chr15_28342851_28363084 | 28353370 | CTTTCTTT | C | intron_variant | MODIFIER | HG01257.hp1 HG01261.hp2 HG01517.hp1 others(5): Show |
a0010a0020a0021others(3): Show | a0010c0012a0020c0033a0021c0046others(3): Show | a0010c0012t0001a0020c0033t0016a0021c0046t0001others(3): Show | a0010c0012t0001g0021 a0010c0012t0001g0092 a0020c0033t0016g0062 others(4): Show |
8 | 200 | 0.0400 | -7 | c.538 others(22): Show |
GOLGA6L24 | ENSG00000237850.8 | transcript | ENST00000568624.2 | protein_coding | 5/8 | chr15 | TogoVar | |||||||
GOLGA6L24_chr15_28342851_28363084 | 28353374 | CTTTTTTT | C | intron_variant | MODIFIER | HG00621.hp1 HG00733.hp2 HG01069.hp1 others(58): Show |
a0001a0002a0004others(11): Show | a0001c0014a0001c0042a0001c0050others(14): Show | a0001c0014t0004a0001c0042t0004a0001c0050t0006others(19): Show | a0001c0014t0004g0018 a0001c0014t0004g0085 a0001c0042t0004g0081 others(30): Show |
61 | 200 | 0.3050 | -7 | c.538 others(22): Show |
GOLGA6L24 | ENSG00000237850.8 | transcript | ENST00000568624.2 | protein_coding | 5/8 | chr15 | TogoVar | |||||||
GOLGA6L7_chr15_28836832_28853644 | 28852109 | GTTTTTTT | G | upstream_gene_variant | MODIFIER | NA18957.hp1 NA18964.hp2 NA18965.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0008 | a0002c0002t0003g0006 a0002c0002t0008g0032 |
7 | 422 | 0.0166 | -7 | c.-35 others(18): Show |
GOLGA6L7 | ENSG00000261649.7 | transcript | ENST00000567390.7 | protein_coding | 3466 | chr15 | TogoVar | |||||||
GOLGA6L9_chr15_82424816_82444153 | 82427223 | TTTCTTTC | T | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00609.hp1 others(96): Show |
a0002a0021a0023others(1): Show | a0002c0002a0002c0019a0002c0029others(3): Show | a0002c0002t0002a0002c0002t0009a0002c0002t0010others(11): Show | a0002c0002t0002g0003 a0002c0002t0002g0005 a0002c0002t0002g0041 others(25): Show |
99 | 455 | 0.2176 | -7 | c.-28 others(18): Show |
GOLGA6L9 | ENSG00000197978.10 | transcript | ENST00000618348.2 | protein_coding | 2592 | chr15 | TogoVar | |||||||
GOLGA7_chr8_41485582_41515980 | 41495718 | CGTAAGTA | C | intron_variant | MODIFIER | HG01884.hp2 HG02965.hp1 HG03225.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0041 a0001c0002t0010g0118 a0001c0002t0010g0128 |
4 | 350 | 0.0114 | -7 | c.112 others(24): Show |
GOLGA7 | ENSG00000147533.19 | transcript | ENST00000357743.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
GOLGA7_chr8_41485582_41515980 | 41504120 | TAAAAAAA | T | intron_variant | MODIFIER | HG00738.hp2 HG00741.hp2 HG01069.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(3): Show | a0001c0001t0004g0011 a0001c0001t0004g0020 a0001c0001t0004g0045 others(9): Show |
24 | 350 | 0.0686 | -7 | c.265 others(24): Show |
GOLGA7 | ENSG00000147533.19 | transcript | ENST00000357743.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
GOLGA7_chr8_41485582_41515980 | 41504130 | AAAAAAAC | A | intron_variant | MODIFIER | HG01256.hp2 HG01891.hp1 HG01891.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0008 | a0001c0001t0004g0024 a0001c0001t0004g0044 a0001c0001t0004g0049 others(11): Show |
19 | 350 | 0.0543 | -7 | c.265 others(24): Show |
GOLGA7 | ENSG00000147533.19 | transcript | ENST00000357743.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
GOLGA8A_chr15_34374068_34442808 | 34375577 | TATATATA | T | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00558.hp1 others(35): Show |
a0002a0020a0022others(3): Show | a0002c0002a0020c0018a0022c0028others(3): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0004others(12): Show | a0002c0002t0002g0180 a0002c0002t0002g0181 a0002c0002t0002g0182 others(34): Show |
38 | 245 | 0.1551 | -7 | c.*58 others(18): Show |
GOLGA8A | ENSG00000175265.19 | transcript | ENST00000359187.5 | protein_coding | 3490 | chr15 | TogoVar | |||||||
GOLGA8A_chr15_34374068_34442808 | 34375578 | ATATATAT | A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00735.hp1 others(37): Show |
a0001a0002a0004others(9): Show | a0001c0001a0001c0015a0002c0002others(11): Show | a0001c0001t0015a0001c0015t0007a0002c0002t0002others(27): Show | a0001c0001t0015g0056 a0001c0015t0007g0081 a0002c0002t0002g0184 others(37): Show |
40 | 245 | 0.1633 | -7 | c.*58 others(18): Show |
GOLGA8A | ENSG00000175265.19 | transcript | ENST00000359187.5 | protein_coding | 3489 | chr15 | TogoVar | |||||||
GOLGA8A_chr15_34374068_34442808 | 34412023 | GGTTTTTT | G | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00558.hp1 others(40): Show |
a0002a0015a0020others(4): Show | a0002c0002a0015c0020a0020c0018others(4): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0004others(14): Show | a0002c0002t0002g0180 a0002c0002t0002g0181 a0002c0002t0002g0182 others(39): Show |
43 | 245 | 0.1755 | -7 | c.-11 others(28): Show |
GOLGA8A | ENSG00000175265.19 | transcript | ENST00000359187.5 | protein_coding | 2/24 | chr15 | TogoVar | |||||||
GOLGA8A_chr15_34374068_34442808 | 34412024 | GTTTTTTT | G | intron_variant | MODIFIER | HG00673.hp2 HG02015.hp2 HG02083.hp1 others(9): Show |
a0003a0009a0010others(3): Show | a0003c0003a0009c0009a0010c0012others(3): Show | a0003c0003t0049a0003c0003t0055a0003c0003t0059others(9): Show | a0003c0003t0049g0011 a0003c0003t0055g0029 a0003c0003t0059g0038 others(9): Show |
12 | 245 | 0.0490 | -7 | c.-11 others(28): Show |
GOLGA8A | ENSG00000175265.19 | transcript | ENST00000359187.5 | protein_coding | 2/24 | chr15 | TogoVar | |||||||
GOLGA8B_chr15_34520095_34588651 | 34565668 | TTTCTTTC | T | intron_variant | MODIFIER | HG02451.hp1 HG02559.hp1 HG02886.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0005a0002c0002t0015 | a0002c0002t0005g0058 a0002c0002t0005g0059 a0002c0002t0005g0060 others(5): Show |
8 | 198 | 0.0404 | -7 | c.-11 others(30): Show |
GOLGA8B | ENSG00000215252.12 | transcript | ENST00000683415.1 | protein_coding | 1/23 | chr15 | TogoVar | |||||||
GOLGA8J_chr15_30077955_30101690 | 30100797 | CACCATAA | C | downstream_gene_variant | MODIFIER | HG02630.hp2 HG02897.hp2 HG02976.hp1 others(1): Show |
a0014a0037 | a0014c0011a0037c0061 | a0014c0011t0009a0037c0061t0009 | a0014c0011t0009g0034 a0014c0011t0009g0047 a0037c0061t0009g0125 |
4 | 345 | 0.0116 | -7 | c.*72 others(18): Show |
GOLGA8J | ENSG00000179938.13 | transcript | ENST00000567927.2 | protein_coding | 4108 | chr15 | TogoVar | |||||||
GOLGA8N_chr15_32588456_32612237 | 32592277 | TCTTTTTC | T | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00558.hp2 HG00735.hp2 others(12): Show |
a0005a0008a0019others(2): Show | a0005c0006a0005c0065a0008c0008others(3): Show | a0005c0006t0008a0005c0006t0029a0005c0006t0030others(7): Show | a0005c0006t0008g0009 a0005c0006t0008g0036 a0005c0006t0029g0157 others(8): Show |
15 | 286 | 0.0525 | -7 | c.-12 others(18): Show |
GOLGA8N | ENSG00000232653.9 | transcript | ENST00000448387.7 | protein_coding | 1178 | chr15 | TogoVar | |||||||
GOLGA8S_chr15_23349748_23373341 | 23351069 | GGGATTAA | G | upstream_gene_variant | MODIFIER | HG01256.hp2 HG01346.hp2 HG01496.hp1 others(3): Show |
a0003a0031a0055others(2): Show | a0003c0061a0031c0024a0055c0099others(2): Show | a0003c0061t0001a0031c0024t0001a0055c0099t0009others(2): Show | a0003c0061t0001g0176 a0031c0024t0001g0182 a0031c0024t0001g0183 others(3): Show |
6 | 430 | 0.0140 | -7 | c.-37 others(18): Show |
GOLGA8S | ENSG00000261739.3 | transcript | ENST00000562295.3 | protein_coding | 3678 | chr15 | TogoVar | |||||||
GOLGA8T_chr15_30130051_30153748 | 30152149 | CACCATAA | C | downstream_gene_variant | MODIFIER | HG00558.hp2 HG01070.hp2 HG01071.hp1 others(51): Show |
a0001a0002a0003others(11): Show | a0001c0001a0002c0002a0003c0005others(14): Show | a0001c0001t0004a0002c0002t0004a0003c0005t0005others(19): Show | a0001c0001t0004g0006 a0001c0001t0004g0008 a0001c0001t0004g0101 others(40): Show |
54 | 291 | 0.1856 | -7 | c.*65 others(18): Show |
GOLGA8T | ENSG00000261247.2 | transcript | ENST00000569052.2 | protein_coding | 3402 | chr15 | TogoVar | |||||||
GOLGB1_chr3_121658201_121754741 | 121727314 | ATATATAT | A | intron_variant | MODIFIER | HG01070.hp2 HG01081.hp1 HG01109.hp1 others(4): Show |
a0001a0011 | a0001c0001a0001c0007a0011c0015 | a0001c0001t0003a0001c0007t0001a0011c0015t0003 | a0001c0001t0003g0072 a0001c0001t0003g0083 a0001c0001t0003g0116 others(4): Show |
7 | 370 | 0.0189 | -7 | c.403 others(22): Show |
GOLGB1 | ENSG00000173230.17 | transcript | ENST00000614479.5 | protein_coding | 4/21 | chr3 | TogoVar | |||||||
GOLIM4_chr3_168003689_168100924 | 168011732 | GACCCCTT | G | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp1 HG01167.hp1 others(64): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0010a0002c0002others(2): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(20): Show | a0001c0001t0002g0027 a0001c0001t0002g0034 a0001c0001t0002g0069 others(64): Show |
67 | 228 | 0.2939 | -7 | c.186 others(24): Show |
GOLIM4 | ENSG00000173905.9 | transcript | ENST00000470487.6 | protein_coding | 14/15 | chr3 | TogoVar | |||||||
GOLM2_chr15_44283719_44420758 | 44288543 | AGAGAGAG | A | upstream_gene_variant | MODIFIER | HG00423.hp1 HG02155.hp2 NA19064.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0115 a0001c0001t0001g0141 a0001c0001t0002g0124 others(1): Show |
4 | 150 | 0.0267 | -7 | c.-48 others(16): Show |
GOLM2 | ENSG00000166734.20 | transcript | ENST00000299957.11 | protein_coding | 175 | chr15 | TogoVar | |||||||
GOLPH3_chr5_32119716_32179319 | 32155956 | CAAAAAAA | C | intron_variant | MODIFIER | HG00323.hp1 HG00621.hp2 HG00673.hp1 others(31): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(2): Show | a0001c0001t0001g0004 a0001c0001t0001g0030 a0001c0001t0001g0031 others(30): Show |
34 | 380 | 0.0895 | -7 | c.226 others(26): Show |
GOLPH3 | ENSG00000113384.14 | transcript | ENST00000265070.7 | protein_coding | 1/3 | chr5 | TogoVar | |||||||
GOPC_chr6_117555269_117607511 | 117586475 | CTTTTTTT | C | intron_variant | MODIFIER | HG00423.hp1 HG00597.hp2 HG00673.hp2 others(102): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0005 | a0001c0001t0001a0001c0001t0007a0001c0001t0013others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0010 others(46): Show |
105 | 382 | 0.2749 | -7 | c.286 others(24): Show |
GOPC | ENSG00000047932.14 | transcript | ENST00000368498.7 | protein_coding | 1/8 | chr6 | TogoVar | |||||||
GORAB_chr1_170527166_170558834 | 170537796 | CTTATTGT | C | intron_variant | MODIFIER | HG01109.hp2 HG02559.hp2 HG02622.hp1 others(10): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0003a0001c0005t0003 | a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0078 others(5): Show |
13 | 356 | 0.0365 | -7 | c.62- others(22): Show |
GORAB | ENSG00000120370.14 | transcript | ENST00000367763.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
GORASP2_chr2_170924253_170972130 | 170967566 | CTTAAATA | C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp2 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0019 a0001c0001t0001g0037 others(20): Show |
34 | 382 | 0.0890 | -7 | c.*14 others(18): Show |
GORASP2 | ENSG00000115806.13 | transcript | ENST00000234160.5 | protein_coding | 437 | chr2 | TogoVar | |||||||
GP5_chr3_194389821_194404266 | 194399624 | GTTTTTTT | G | upstream_gene_variant | MODIFIER | HG00597.hp2 HG01109.hp2 HG01123.hp2 others(15): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0018 | a0001c0001t0002a0001c0002t0002a0005c0018t0002 | a0001c0001t0002g0014 a0001c0002t0002g0003 a0005c0018t0002g0025 |
18 | 384 | 0.0469 | -7 | c.-39 others(16): Show |
GP5 | ENSG00000178732.6 | transcript | ENST00000692618.1 | protein_coding | 359 | chr3 | TogoVar | |||||||
GPALPP1_chr13_44984538_45035305 | 45005086 | CTTTTTTT | C | intron_variant | MODIFIER | HG02071.hp2 HG02080.hp2 HG02647.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0003g0250 a0001c0001t0004g0272 a0001c0001t0004g0280 others(5): Show |
8 | 348 | 0.0230 | -7 | c.221 others(22): Show |
GPALPP1 | ENSG00000133114.18 | transcript | ENST00000379151.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
GPAM_chr10_112144865_112188765 | 112170655 | GGTTCCTT | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(65): Show |
a0003a0005a0006others(1): Show | a0003c0003a0005c0006a0006c0011others(1): Show | a0003c0003t0003a0003c0003t0023a0003c0003t0034others(5): Show | a0003c0003t0003g0002 a0003c0003t0003g0015 a0003c0003t0003g0041 others(23): Show |
68 | 378 | 0.1799 | -7 | c.794 others(24): Show |
GPAM | ENSG00000119927.14 | transcript | ENST00000348367.9 | protein_coding | 9/21 | chr10 | TogoVar | |||||||
GPANK1_chr6_31656228_31669997 | 31668182 | TATTCCAA | T | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(150): Show |
a0001a0004a0007others(2): Show | a0001c0002a0001c0005a0001c0006others(4): Show | a0001c0002t0002a0001c0002t0005a0001c0002t0009others(11): Show | a0001c0002t0002g0002 a0001c0002t0002g0009 a0001c0002t0002g0016 others(29): Show |
153 | 433 | 0.3534 | -7 | c.-34 others(18): Show |
GPANK1 | ENSG00000204438.11 | transcript | ENST00000375896.9 | protein_coding | 3186 | chr6 | TogoVar | |||||||
GPAT3_chr4_83531108_83610875 | 83578947 | CTTTTCTT | C | intron_variant | MODIFIER | HG02622.hp1 HG02723.hp1 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0234 |
3 | 334 | 0.0090 | -7 | c.209 others(24): Show |
GPAT3 | ENSG00000138678.11 | transcript | ENST00000264409.5 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GPAT3_chr4_83531108_83610875 | 83581095 | CAAAAAAA | C | intron_variant | MODIFIER | HG01070.hp1 HG02602.hp2 HG03688.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0026 others(7): Show |
10 | 334 | 0.0299 | -7 | c.209 others(22): Show |
GPAT3 | ENSG00000138678.11 | transcript | ENST00000264409.5 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GPAT4_chr8_41573200_41630001 | 41581993 | ATTTTTTT | A | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00642.hp1 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(3): Show | a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0280 others(29): Show |
34 | 410 | 0.0829 | -7 | c.-84 others(26): Show |
GPAT4 | ENSG00000158669.11 | transcript | ENST00000396987.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
GPAT4_chr8_41573200_41630001 | 41603525 | CAAAAAAA | C | intron_variant | MODIFIER | HG02055.hp1 HG02280.hp1 HG02647.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0004 a0001c0001t0008g0096 a0001c0001t0008g0097 others(2): Show |
8 | 410 | 0.0195 | -7 | c.165 others(24): Show |
GPAT4 | ENSG00000158669.11 | transcript | ENST00000396987.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
GPATCH2_chr1_217421992_217636090 | 217524873 | AGAGGGGG | A | intron_variant | MODIFIER | HG01168.hp2 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0017 | a0001c0001t0009g0187 a0001c0001t0017g0101 |
2 | 188 | 0.0106 | -7 | c.109 others(26): Show |
GPATCH2 | ENSG00000092978.11 | transcript | ENST00000366935.8 | protein_coding | 5/9 | chr1 | TogoVar | |||||||
GPATCH2_chr1_217421992_217636090 | 217629226 | GTCATACA | G | intron_variant | MODIFIER | HG00609.hp2 HG00741.hp2 HG01106.hp2 others(16): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(3): Show | a0001c0001t0002g0114 a0001c0001t0002g0117 a0001c0001t0002g0118 others(16): Show |
19 | 188 | 0.1011 | -7 | c.56+ others(22): Show |
GPATCH2 | ENSG00000092978.11 | transcript | ENST00000366935.8 | protein_coding | 1/9 | chr1 | TogoVar | |||||||
GPATCH8_chr17_44390281_44508406 | 44424760 | CAAAAAAT | C | intron_variant | MODIFIER | HG00639.hp1 HG01106.hp2 HG01993.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0215 a0001c0002t0001g0256 a0001c0002t0001g0260 |
3 | 326 | 0.0092 | -7 | c.349 others(22): Show |
GPATCH8 | ENSG00000186566.13 | transcript | ENST00000591680.6 | protein_coding | 5/7 | chr17 | TogoVar | |||||||
GPATCH8_chr17_44390281_44508406 | 44477998 | TGGGGTGG | T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp1 others(142): Show |
a0001a0003a0005others(3): Show | a0001c0002a0001c0003a0001c0004others(6): Show | a0001c0002t0001a0001c0002t0004a0001c0002t0006others(11): Show | a0001c0002t0001g0002 a0001c0002t0001g0156 a0001c0002t0001g0165 others(142): Show |
145 | 326 | 0.4448 | -7 | c.46- others(22): Show |
GPATCH8 | ENSG00000186566.13 | transcript | ENST00000591680.6 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
GPATCH8_chr17_44390281_44508406 | 44483177 | ATATATAT | A | intron_variant | MODIFIER | HG01081.hp1 HG01261.hp2 HG01928.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0010 | a0001c0001t0001a0001c0002t0001a0001c0010t0013 | a0001c0001t0001g0001 a0001c0001t0001g0145 a0001c0001t0001g0146 others(3): Show |
7 | 326 | 0.0215 | -7 | c.46- others(22): Show |
GPATCH8 | ENSG00000186566.13 | transcript | ENST00000591680.6 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
GPBAR1_chr2_218256015_218268861 | 218267958 | GGTTTTTT | G | downstream_gene_variant | MODIFIER | HG02717.hp1 HG02809.hp2 HG03041.hp1 others(9): Show |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0001a0001c0001t0003a0006c0008t0003 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0003g0001 others(4): Show |
12 | 406 | 0.0296 | -7 | c.*42 others(18): Show |
GPBAR1 | ENSG00000179921.15 | transcript | ENST00000519574.2 | protein_coding | 4098 | chr2 | TogoVar | |||||||
GPBP1L1_chr1_45622304_45691533 | 45643658 | CTTTTTTT | C | intron_variant | MODIFIER | HG02486.hp2 HG02896.hp1 HG02897.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0006a0001c0003t0004 | a0001c0001t0006g0117 a0001c0001t0006g0119 a0001c0001t0006g0120 others(4): Show |
7 | 292 | 0.0240 | -7 | c.478 others(24): Show |
GPBP1L1 | ENSG00000159592.11 | transcript | ENST00000355105.8 | protein_coding | 6/12 | chr1 | TogoVar | |||||||
GPBP1L1_chr1_45622304_45691533 | 45670549 | TAGTTTTA | T | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00544.hp2 others(96): Show |
a0001a0003a0004 | a0001c0002a0001c0007a0001c0008others(2): Show | a0001c0002t0002a0001c0002t0005a0001c0002t0011others(8): Show | a0001c0002t0002g0011 a0001c0002t0002g0013 a0001c0002t0002g0014 others(96): Show |
99 | 292 | 0.3390 | -7 | c.-10 others(28): Show |
GPBP1L1 | ENSG00000159592.11 | transcript | ENST00000355105.8 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
GPBP1L1_chr1_45622304_45691533 | 45676710 | CAAAAAAA | C | intron_variant | MODIFIER | HG00642.hp1 HG01123.hp1 HG01168.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0005 | a0001c0001t0003g0118 a0001c0002t0005g0043 a0001c0002t0005g0054 others(5): Show |
8 | 292 | 0.0274 | -7 | c.-10 others(28): Show |
GPBP1L1 | ENSG00000159592.11 | transcript | ENST00000355105.8 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
GPBP1_chr5_57169059_57269673 | 57177648 | CTTTTTTT | C | intron_variant | MODIFIER | HG02280.hp1 HG02809.hp2 HG03139.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 others(3): Show |
6 | 290 | 0.0207 | -7 | c.-58 others(24): Show |
GPBP1 | ENSG00000062194.16 | transcript | ENST00000506184.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GPBP1_chr5_57169059_57269673 | 57229492 | CTTTTCCT | C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(99): Show |
a0001a0002a0011others(5): Show | a0001c0001a0002c0003a0011c0016others(5): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(9): Show | a0001c0001t0001g0006 a0001c0001t0001g0022 a0001c0001t0001g0023 others(99): Show |
102 | 290 | 0.3517 | -7 | c.64- others(22): Show |
GPBP1 | ENSG00000062194.16 | transcript | ENST00000506184.7 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GPBP1_chr5_57169059_57269673 | 57236642 | GCATTTTA | G | intron_variant | MODIFIER | HG02280.hp1 HG02809.hp2 HG03139.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 others(3): Show |
6 | 290 | 0.0207 | -7 | c.478 others(22): Show |
GPBP1 | ENSG00000062194.16 | transcript | ENST00000506184.7 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GPC3_chrX_133530745_133990594 | 133593330 | CAAAAAAA | C | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0152 | 1 | 152 | 0.0066 | -7 | c.157 others(26): Show |
GPC3 | ENSG00000147257.16 | transcript | ENST00000370818.8 | protein_coding | 7/7 | chrX | TogoVar | |||||||
GPC3_chrX_133530745_133990594 | 133600708 | TGGATTTA | T | intron_variant | MODIFIER | HG02622.hp2 HG02886.hp1 HG03130.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0009 | a0001c0002t0002g0061 a0001c0002t0002g0063 a0001c0002t0002g0098 others(3): Show |
6 | 152 | 0.0395 | -7 | c.141 others(26): Show |
GPC3 | ENSG00000147257.16 | transcript | ENST00000370818.8 | protein_coding | 6/7 | chrX | TogoVar | |||||||
GPC3_chrX_133530745_133990594 | 133661624 | CTCTCTCT | C | intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 152 | 0.0066 | -7 | c.141 others(23): Show |
GPC3 | ENSG00000147257.16 | transcript | ENST00000370818.8 | protein_coding | 6/7 | chrX | TogoVar | |||||||
GPC3_chrX_133530745_133990594 | 133661626 | CTCTCTCT | C | intron_variant | MODIFIER | HG03942.hp1 NA18964.hp1 NA18984.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0055 a0001c0001t0001g0114 |
3 | 152 | 0.0197 | -7 | c.141 others(23): Show |
GPC3 | ENSG00000147257.16 | transcript | ENST00000370818.8 | protein_coding | 6/7 | chrX | TogoVar | |||||||
GPC3_chrX_133530745_133990594 | 133661627 | TCTCTCTC | T | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 152 | 0.0066 | -7 | c.141 others(23): Show |
GPC3 | ENSG00000147257.16 | transcript | ENST00000370818.8 | protein_coding | 6/7 | chrX | TogoVar | |||||||
GPC3_chrX_133530745_133990594 | 133823128 | CAAAAAAA | C | intron_variant | MODIFIER | HG02622.hp2 HG02886.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0098 a0001c0002t0002g0099 |
2 | 152 | 0.0132 | -7 | c.338 others(26): Show |
GPC3 | ENSG00000147257.16 | transcript | ENST00000370818.8 | protein_coding | 2/7 | chrX | TogoVar |