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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
VMP1_chr17_59702654_59847255 | 59821539 | C | CTTTTTT | intron_variant | MODIFIER | HG01109.hp2 HG02615.hp1 HG02896.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0262 a0001c0001t0004g0263 a0001c0001t0004g0265 others(6): Show |
9 | 81 | 0.1111 | 6 | c.974 others(23): Show |
VMP1 | ENSG00000062716.13 | transcript | ENST00000262291.9 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
VN1R1_chr19_57449790_57462140 | 57457933 | A | AGTGTGT | upstream_gene_variant | MODIFIER | HG00323.hp2 HG01109.hp2 HG01192.hp1 others(31): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0000 a0001c0001t0002g0000 a0002c0002t0001g0000 |
34 | 116 | 0.2931 | 6 | c.-14 others(17): Show |
VN1R1 | ENSG00000178201.5 | transcript | ENST00000321039.5 | protein_coding | 794 | chr19 | TogoVar | |||||||
VN1R1_chr19_57449790_57462140 | 57458501 | C | CAAAAAA | upstream_gene_variant | MODIFIER | HG00597.hp1 HG01891.hp2 HG02132.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0004a0002c0002t0001others(1): Show | a0001c0001t0002g0000 a0001c0001t0004g0000 a0002c0002t0001g0000 others(1): Show |
11 | 158 | 0.0696 | 6 | c.-20 others(17): Show |
VN1R1 | ENSG00000178201.5 | transcript | ENST00000321039.5 | protein_coding | 1362 | chr19 | TogoVar | |||||||
VN1R4_chr19_53261676_53272723 | 53268125 | G | GACACAC | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00741.hp2 HG01070.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 13 | 55 | 0.2364 | 6 | c.-46 others(15): Show |
VN1R4 | ENSG00000228567.3 | transcript | ENST00000311170.5 | protein_coding | 403 | chr19 | TogoVar | |||||||
VN1R4_chr19_53261676_53272723 | 53270701 | G | GGGGAGA | upstream_gene_variant | MODIFIER | HG00673.hp1 HG02015.hp1 HG02129.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0000 a0002c0002t0001g0000 |
11 | 84 | 0.1310 | 6 | c.-30 others(17): Show |
VN1R4 | ENSG00000228567.3 | transcript | ENST00000311170.5 | protein_coding | 2979 | chr19 | TogoVar | |||||||
VNN1_chr6_132675849_132719055 | 132676682 | C | CATTTTT | downstream_gene_variant | MODIFIER | HG00733.hp2 HG00735.hp2 HG00741.hp1 others(87): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0020a0002c0002others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0011 others(49): Show |
90 | 322 | 0.2795 | 6 | c.*64 others(17): Show |
VNN1 | ENSG00000112299.8 | transcript | ENST00000367928.5 | protein_coding | 4166 | chr6 | TogoVar | |||||||
VNN2_chr6_132738870_132762904 | 132758000 | T | TTTCTTC | upstream_gene_variant | MODIFIER | HG01106.hp1 HG01255.hp1 HG02080.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0002t0001g0007 |
10 | 286 | 0.0350 | 6 | c.-12 others(15): Show |
VNN2 | ENSG00000112303.14 | transcript | ENST00000326499.11 | protein_coding | 97 | chr6 | TogoVar | |||||||
VNN2_chr6_132738870_132762904 | 132759438 | C | CAAAAAA | upstream_gene_variant | MODIFIER | HG00280.hp1 HG01891.hp1 HG02109.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0016 a0001c0001t0001g0083 a0001c0001t0001g0085 others(6): Show |
10 | 238 | 0.0420 | 6 | c.-15 others(17): Show |
VNN2 | ENSG00000112303.14 | transcript | ENST00000326499.11 | protein_coding | 1535 | chr6 | TogoVar | |||||||
VOPP1_chr7_55465613_55577502 | 55539899 | G | GCACACA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(25): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0004 | a0001c0001t0002a0001c0002t0001a0001c0002t0004others(1): Show | a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 others(25): Show |
28 | 68 | 0.4118 | 6 | c.55- others(23): Show |
VOPP1 | ENSG00000154978.13 | transcript | ENST00000285279.10 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
VOPP1_chr7_55465613_55577502 | 55564271 | C | CTCACTT | intron_variant | MODIFIER | HG02615.hp2 HG03209.hp2 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 |
3 | 260 | 0.0115 | 6 | c.54+ others(21): Show |
VOPP1 | ENSG00000154978.13 | transcript | ENST00000285279.10 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
VOPP1_chr7_55465613_55577502 | 55573864 | C | CGTGTGT | upstream_gene_variant | MODIFIER | HG02155.hp2 HG02647.hp1 HG03139.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0008 | a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 others(2): Show |
5 | 169 | 0.0296 | 6 | c.-15 others(17): Show |
VOPP1 | ENSG00000154978.13 | transcript | ENST00000285279.10 | protein_coding | 1363 | chr7 | TogoVar | |||||||
VPREB3_chr22_23747743_23759425 | 23754746 | A | ACGCGCG | upstream_gene_variant | MODIFIER | HG01346.hp1 HG02615.hp2 HG03041.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0004 |
6 | 345 | 0.0174 | 6 | c.-38 others(15): Show |
VPREB3 | ENSG00000128218.8 | transcript | ENST00000248948.4 | protein_coding | 322 | chr22 | TogoVar | |||||||
VPREB3_chr22_23747743_23759425 | 23754752 | G | GCGCACA | upstream_gene_variant | MODIFIER | HG02109.hp2 HG02155.hp1 HG02735.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0007 |
12 | 328 | 0.0366 | 6 | c.-39 others(15): Show |
VPREB3 | ENSG00000128218.8 | transcript | ENST00000248948.4 | protein_coding | 328 | chr22 | TogoVar | |||||||
VPREB3_chr22_23747743_23759425 | 23754752 | G | GCGCGCA | upstream_gene_variant | MODIFIER | HG00408.hp2 HG01192.hp1 HG01358.hp2 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0013 |
33 | 349 | 0.0946 | 6 | c.-39 others(15): Show |
VPREB3 | ENSG00000128218.8 | transcript | ENST00000248948.4 | protein_coding | 328 | chr22 | TogoVar | |||||||
VPREB3_chr22_23747743_23759425 | 23754752 | G | GCGTGCA | upstream_gene_variant | MODIFIER | HG02615.hp1 HG03516.hp2 NA18522.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 4 | 320 | 0.0125 | 6 | c.-39 others(15): Show |
VPREB3 | ENSG00000128218.8 | transcript | ENST00000248948.4 | protein_coding | 328 | chr22 | TogoVar | |||||||
VPS11_chr11_119062818_119086972 | 119085172 | C | CTTTTTT | downstream_gene_variant | MODIFIER | HG00558.hp1 HG01257.hp1 HG01952.hp1 others(25): Show |
a0001a0005a0012others(1): Show | a0001c0001a0005c0014a0012c0023others(1): Show | a0001c0001t0001a0005c0014t0001a0012c0023t0001others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 others(22): Show |
28 | 64 | 0.4375 | 6 | c.*35 others(17): Show |
VPS11 | ENSG00000160695.16 | transcript | ENST00000621676.5 | protein_coding | 3201 | chr11 | TogoVar | |||||||
VPS13A_chr9_77172534_77426537 | 77195764 | C | CTTTATT | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp2 HG00735.hp2 others(4): Show |
a0001 | a0001c0007 | a0001c0007t0009a0001c0007t0021 | a0001c0007t0009g0340 a0001c0007t0009g0341 a0001c0007t0009g0342 others(3): Show |
7 | 346 | 0.0202 | 6 | c.101 others(23): Show |
VPS13A | ENSG00000197969.14 | transcript | ENST00000360280.8 | protein_coding | 1/71 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
VPS13A_chr9_77172534_77426537 | 77206327 | T | TTATATA | intron_variant | MODIFIER | HG00140.hp1 HG00544.hp2 HG00609.hp1 others(65): Show |
a0001a0005a0014others(1): Show | a0001c0001a0001c0002a0001c0011others(6): Show | a0001c0001t0003a0001c0001t0008a0001c0001t0013others(17): Show | a0001c0001t0003g0257 a0001c0001t0003g0267 a0001c0001t0003g0279 others(65): Show |
68 | 242 | 0.2810 | 6 | c.385 others(21): Show |
VPS13A | ENSG00000197969.14 | transcript | ENST00000360280.8 | protein_coding | 5/71 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
VPS13A_chr9_77172534_77426537 | 77206329 | T | TTATATA | intron_variant | MODIFIER | HG01175.hp1 HG02132.hp1 HG03239.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0259 a0001c0002t0001g0296 a0001c0002t0001g0297 others(2): Show |
5 | 139 | 0.0360 | 6 | c.385 others(21): Show |
VPS13A | ENSG00000197969.14 | transcript | ENST00000360280.8 | protein_coding | 5/71 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
VPS13A_chr9_77172534_77426537 | 77207213 | T | TTATATA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00609.hp2 others(20): Show |
a0001a0009 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0014others(6): Show | a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0067 others(20): Show |
23 | 166 | 0.1386 | 6 | c.385 others(23): Show |
VPS13A | ENSG00000197969.14 | transcript | ENST00000360280.8 | protein_coding | 5/71 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
VPS13A_chr9_77172534_77426537 | 77207252 | T | TATATTA | intron_variant | MODIFIER | HG01515.hp1 HG02723.hp2 HG02818.hp2 others(1): Show |
a0001a0007 | a0001c0001a0007c0015 | a0001c0001t0007a0001c0001t0013a0001c0001t0030others(1): Show | a0001c0001t0007g0203 a0001c0001t0013g0210 a0001c0001t0030g0209 others(1): Show |
4 | 213 | 0.0188 | 6 | c.385 others(23): Show |
VPS13A | ENSG00000197969.14 | transcript | ENST00000360280.8 | protein_coding | 5/71 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
VPS13A_chr9_77172534_77426537 | 77210160 | C | CCTCTCT | intron_variant | MODIFIER | HG01109.hp1 HG01175.hp2 HG01255.hp2 others(10): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0008others(3): Show | a0001c0001t0002a0001c0001t0016a0001c0003t0004others(5): Show | a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0016g0249 others(10): Show |
13 | 123 | 0.1057 | 6 | c.496 others(21): Show |
VPS13A | ENSG00000197969.14 | transcript | ENST00000360280.8 | protein_coding | 6/71 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
VPS13A_chr9_77172534_77426537 | 77287224 | T | TTCTCTC | intron_variant | MODIFIER | HG00642.hp2 HG00735.hp2 HG01081.hp2 others(4): Show |
a0001 | a0001c0007a0001c0039 | a0001c0007t0009a0001c0007t0021a0001c0039t0009 | a0001c0007t0009g0341 a0001c0007t0009g0342 a0001c0007t0009g0343 others(3): Show |
7 | 283 | 0.0247 | 6 | c.333 others(25): Show |
VPS13A | ENSG00000197969.14 | transcript | ENST00000360280.8 | protein_coding | 31/71 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
VPS13A_chr9_77172534_77426537 | 77306384 | C | CAGAGAG | intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG00642.hp2 others(39): Show |
a0001a0004a0007others(1): Show | a0001c0005a0001c0006a0001c0007others(9): Show | a0001c0005t0005a0001c0005t0031a0001c0006t0005others(12): Show | a0001c0005t0005g0016 a0001c0005t0005g0017 a0001c0005t0005g0026 others(38): Show |
42 | 296 | 0.1419 | 6 | c.396 others(25): Show |
VPS13A | ENSG00000197969.14 | transcript | ENST00000360280.8 | protein_coding | 34/71 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
VPS13A_chr9_77172534_77426537 | 77306414 | T | TTGTGTG | intron_variant | MODIFIER | HG01081.hp2 HG01943.hp1 HG02895.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0003a0001c0002t0001a0001c0006t0005others(4): Show | a0001c0001t0003g0257 a0001c0001t0003g0279 a0001c0001t0003g0280 others(8): Show |
11 | 108 | 0.1019 | 6 | c.396 others(25): Show |
VPS13A | ENSG00000197969.14 | transcript | ENST00000360280.8 | protein_coding | 34/71 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
VPS13A_chr9_77172534_77426537 | 77401329 | T | TTGTGTG | intron_variant | MODIFIER | HG01109.hp1 HG01175.hp2 HG02280.hp1 others(9): Show |
a0001a0006a0009 | a0001c0005a0001c0006a0001c0008others(6): Show | a0001c0005t0005a0001c0006t0005a0001c0008t0010others(7): Show | a0001c0005t0005g0016 a0001c0006t0005g0015 a0001c0008t0010g0191 others(9): Show |
12 | 68 | 0.1765 | 6 | c.919 others(25): Show |
VPS13A | ENSG00000197969.14 | transcript | ENST00000360280.8 | protein_coding | 68/71 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
VPS13A_chr9_77172534_77426537 | 77411660 | C | CAAAAAA | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(50): Show |
a0001a0008 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0025others(10): Show | a0001c0001t0001g0162 a0001c0001t0006g0112 a0001c0001t0006g0113 others(50): Show |
53 | 139 | 0.3813 | 6 | c.947 others(25): Show |
VPS13A | ENSG00000197969.14 | transcript | ENST00000360280.8 | protein_coding | 71/71 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
VPS13A_chr9_77172534_77426537 | 77414739 | T | TTAATAA | intron_variant | MODIFIER | HG00642.hp1 HG01081.hp1 HG01106.hp2 others(23): Show |
a0001a0004a0023 | a0001c0001a0001c0002a0001c0023others(2): Show | a0001c0001t0002a0001c0001t0007a0001c0002t0001others(3): Show | a0001c0001t0002g0071 a0001c0001t0002g0135 a0001c0001t0002g0136 others(23): Show |
26 | 97 | 0.2680 | 6 | c.947 others(25): Show |
VPS13A | ENSG00000197969.14 | transcript | ENST00000360280.8 | protein_coding | 71/71 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99044853 | T | TACACAC | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 NA18950.hp1 others(1): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0027 | a0001c0001t0002a0001c0002t0001a0006c0027t0001 | a0001c0001t0002g0032 a0001c0002t0001g0013 a0001c0002t0001g0039 others(1): Show |
4 | 15 | 0.2667 | 6 | c.291 others(23): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 3/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99238241 | A | AGTGTGT | intron_variant | MODIFIER | HG01884.hp1 HG02976.hp1 |
a0004a0016 | a0004c0023a0016c0024 | a0004c0023t0005a0016c0024t0005 | a0004c0023t0005g0106 a0016c0024t0005g0123 |
2 | 113 | 0.0177 | 6 | c.251 others(27): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 17/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99262769 | C | CTGTTGT | intron_variant | MODIFIER | HG00741.hp2 HG02145.hp1 HG02895.hp1 others(3): Show |
a0001a0003a0015 | a0001c0001a0003c0005a0003c0033others(1): Show | a0001c0001t0002a0003c0005t0004a0003c0005t0006others(2): Show | a0001c0001t0002g0075 a0003c0005t0004g0130 a0003c0005t0006g0129 others(3): Show |
6 | 107 | 0.0561 | 6 | c.251 others(27): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 17/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99358002 | T | TCACACA | intron_variant | MODIFIER | HG01884.hp2 HG03139.hp1 HG03195.hp1 |
a0002a0011 | a0002c0003a0011c0034 | a0002c0003t0003a0011c0034t0001 | a0002c0003t0003g0058 a0002c0003t0003g0059 a0011c0034t0001g0063 |
3 | 53 | 0.0566 | 6 | c.282 others(27): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 19/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99365516 | C | CTTCTTT | intron_variant | MODIFIER | HG01884.hp2 HG02965.hp1 HG02965.hp2 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0003c0004others(2): Show | a0001c0001t0001a0002c0003t0003a0002c0003t0008others(3): Show | a0001c0001t0001g0113 a0002c0003t0003g0058 a0002c0003t0003g0099 others(7): Show |
10 | 62 | 0.1613 | 6 | c.282 others(27): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 19/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99520389 | T | TTGTGTG | intron_variant | MODIFIER | HG01261.hp1 HG02080.hp2 |
a0001 | a0001c0001a0001c0035 | a0001c0001t0001a0001c0035t0002 | a0001c0001t0001g0084 a0001c0035t0002g0104 |
2 | 71 | 0.0282 | 6 | c.463 others(23): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 29/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99544692 | A | AAACAAC | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(59): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0008others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(23): Show | a0001c0001t0001g0107 a0001c0001t0002g0018 a0001c0001t0002g0021 others(59): Show |
62 | 132 | 0.4697 | 6 | c.474 others(27): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 30/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99580984 | A | AACACAC | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp1 HG03130.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0116 a0001c0001t0002g0053 a0001c0001t0002g0076 others(1): Show |
4 | 21 | 0.1905 | 6 | c.522 others(25): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 33/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99633806 | G | GGTGTGT | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(48): Show |
a0001a0002a0007others(6): Show | a0001c0001a0001c0002a0001c0010others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0061 a0001c0001t0001g0081 a0001c0001t0001g0084 others(48): Show |
51 | 52 | 0.9808 | 6 | c.522 others(25): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 33/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99737106 | C | CTTTTTT | intron_variant | MODIFIER | HG00741.hp1 HG01106.hp2 HG01517.hp2 others(3): Show |
a0001a0003 | a0001c0002a0001c0020a0003c0004others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0020t0002others(2): Show | a0001c0002t0001g0030 a0001c0002t0002g0046 a0001c0020t0002g0082 others(3): Show |
6 | 22 | 0.2727 | 6 | c.705 others(27): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 39/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99793254 | C | CATATAT | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG01106.hp2 others(3): Show |
a0001a0002a0006others(1): Show | a0001c0002a0002c0003a0006c0027others(1): Show | a0001c0002t0001a0002c0003t0003a0006c0027t0001others(1): Show | a0001c0002t0001g0013 a0001c0002t0001g0030 a0002c0003t0003g0024 others(3): Show |
6 | 57 | 0.1053 | 6 | c.794 others(25): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 43/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99821103 | A | AACACAC | intron_variant | MODIFIER | HG01515.hp2 HG01517.hp1 HG02040.hp2 |
a0002 | a0002c0003 | a0002c0003t0003a0002c0003t0007 | a0002c0003t0003g0080 a0002c0003t0007g0017 a0002c0003t0007g0028 |
3 | 17 | 0.1765 | 6 | c.899 others(23): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 49/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13C_chr15_61847389_62065447 | 61940013 | G | GTATTTA | intron_variant | MODIFIER | HG01070.hp1 HG01175.hp2 HG02004.hp2 others(13): Show |
a0005a0039 | a0005c0005a0039c0053 | a0005c0005t0004a0005c0005t0018a0039c0053t0004 | a0005c0005t0004g0015 a0005c0005t0004g0017 a0005c0005t0004g0018 others(13): Show |
16 | 350 | 0.0457 | 6 | c.560 others(23): Show |
VPS13C | ENSG00000129003.19 | transcript | ENST00000644861.2 | protein_coding | 47/84 | chr15 | TogoVar | |||||||
VPS13C_chr15_61847389_62065447 | 62012221 | G | GACACAC | intron_variant | MODIFIER | HG00408.hp1 HG01070.hp1 HG01175.hp2 others(16): Show |
a0001a0004a0005others(1): Show | a0001c0001a0004c0004a0005c0005others(1): Show | a0001c0001t0003a0004c0004t0001a0005c0005t0004others(2): Show | a0001c0001t0003g0302 a0001c0001t0003g0306 a0004c0004t0001g0035 others(16): Show |
19 | 145 | 0.1310 | 6 | c.826 others(19): Show |
VPS13C | ENSG00000129003.19 | transcript | ENST00000644861.2 | protein_coding | 11/84 | chr15 | TogoVar | |||||||
VPS13D_chr1_12225030_12517047 | 12352965 | C | CAAAAAA | intron_variant | MODIFIER | HG02698.hp2 HG02717.hp1 HG02717.hp2 others(8): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0011others(2): Show | a0001c0001t0001a0001c0001t0020a0001c0003t0001others(3): Show | a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0098 others(8): Show |
11 | 29 | 0.3793 | 6 | c.943 others(23): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 46/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS13D_chr1_12225030_12517047 | 12395996 | G | GATATAT | intron_variant | MODIFIER | HG01099.hp1 HG01928.hp2 HG02735.hp2 others(2): Show |
a0001a0002a0008 | a0001c0001a0002c0004a0002c0032others(1): Show | a0001c0001t0004a0002c0004t0001a0002c0032t0001others(1): Show | a0001c0001t0004g0082 a0002c0004t0001g0081 a0002c0004t0001g0095 others(2): Show |
5 | 110 | 0.0455 | 6 | c.116 others(27): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS13D_chr1_12225030_12517047 | 12400958 | G | GCACACA | intron_variant | MODIFIER | HG02165.hp1 HG02622.hp2 HG02965.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0002t0002a0001c0002t0007others(3): Show | a0001c0001t0002g0064 a0001c0002t0002g0045 a0001c0002t0007g0066 others(3): Show |
6 | 137 | 0.0438 | 6 | c.117 others(25): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 61/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS13D_chr1_12225030_12517047 | 12400960 | G | GCACACA | intron_variant | MODIFIER | HG02735.hp1 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0108 a0001c0001t0002g0038 |
2 | 86 | 0.0233 | 6 | c.117 others(25): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 61/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS13D_chr1_12225030_12517047 | 12400962 | G | GCACACA | intron_variant | MODIFIER | HG01943.hp1 HG02300.hp1 |
a0001 | a0001c0002a0001c0024 | a0001c0002t0001a0001c0024t0001 | a0001c0002t0001g0006 a0001c0024t0001g0127 |
2 | 55 | 0.0364 | 6 | c.117 others(25): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 61/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS13D_chr1_12225030_12517047 | 12427240 | A | ATATTAT | intron_variant | MODIFIER | HG02083.hp2 HG02165.hp1 NA18959.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0043 a0001c0001t0002g0072 a0001c0002t0002g0045 |
3 | 124 | 0.0242 | 6 | c.123 others(29): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS13D_chr1_12225030_12517047 | 12427242 | T | TTTATTA | intron_variant | MODIFIER | HG01243.hp1 HG01346.hp2 HG01993.hp1 others(1): Show |
a0001 | a0001c0001a0001c0006a0001c0008 | a0001c0001t0004a0001c0006t0003a0001c0008t0003 | a0001c0001t0004g0148 a0001c0006t0003g0007 a0001c0006t0003g0013 others(1): Show |
4 | 89 | 0.0449 | 6 | c.123 others(29): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS13D_chr1_12225030_12517047 | 12496856 | G | GCCAGGT | intron_variant | MODIFIER | HG03540.hp2 HG04204.hp1 |
a0001 | a0001c0001a0001c0021 | a0001c0001t0001a0001c0021t0013 | a0001c0001t0001g0098 a0001c0021t0013g0046 |
2 | 149 | 0.0134 | 6 | c.126 others(25): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |