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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
VPS35L_chr16_19550703_19706163 | 19662996 | AAAT | A | intron_variant | MODIFIER | HG00140.hp1 HG00609.hp2 HG01175.hp1 others(17): Show |
a0001a0005 | a0001c0001a0001c0003a0001c0012others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(3): Show | a0001c0001t0001g0017 a0001c0001t0001g0050 a0001c0001t0001g0054 others(17): Show |
20 | 282 | 0.0709 | -3 | c.222 others(22): Show |
VPS35L | ENSG00000103544.17 | transcript | ENST00000417362.7 | protein_coding | 26/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
VPS35L_chr16_19550703_19706163 | 19663669 | CTTT | C | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG00609.hp1 others(51): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(3): Show | a0001c0001t0001g0124 a0001c0001t0001g0129 a0001c0001t0001g0167 others(51): Show |
54 | 141 | 0.3830 | -3 | c.222 others(22): Show |
VPS35L | ENSG00000103544.17 | transcript | ENST00000417362.7 | protein_coding | 26/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
VPS35L_chr16_19550703_19706163 | 19666969 | TTTC | T | intron_variant | MODIFIER | HG00423.hp2 HG00621.hp2 HG00733.hp2 others(41): Show |
a0001a0002a0004 | a0001c0002a0001c0007a0002c0014others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0007t0001others(3): Show | a0001c0002t0001g0002 a0001c0002t0001g0012 a0001c0002t0001g0014 others(41): Show |
44 | 282 | 0.1560 | -3 | c.222 others(22): Show |
VPS35L | ENSG00000103544.17 | transcript | ENST00000417362.7 | protein_coding | 26/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
VPS35L_chr16_19550703_19706163 | 19695023 | AGAC | A | intron_variant | MODIFIER | HG02622.hp2 HG02818.hp1 HG02886.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0011 | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(1): Show | a0001c0001t0001g0247 a0001c0002t0001g0053 a0001c0002t0001g0131 others(2): Show |
5 | 282 | 0.0177 | -3 | c.264 others(22): Show |
VPS35L | ENSG00000103544.17 | transcript | ENST00000417362.7 | protein_coding | 29/30 | chr16 | TogoVar | |||||||
VPS36_chr13_52407606_52455634 | 52432118 | CGCG | C | intron_variant | MODIFIER | HG06807.hp2 NA18522.hp1 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0028 | a0001c0001t0009g0030 a0001c0001t0028g0261 |
3 | 336 | 0.0089 | -3 | c.528 others(20): Show |
VPS36 | ENSG00000136100.14 | transcript | ENST00000378060.9 | protein_coding | 6/13 | chr13 | TogoVar | |||||||
VPS37B_chr12_122860330_122901124 | 122864109 | GCCC | G | downstream_gene_variant | MODIFIER | HG00544.hp1 HG00735.hp1 HG01169.hp1 others(25): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0015 others(23): Show |
28 | 46 | 0.6087 | -3 | c.*30 others(14): Show |
VPS37B | ENSG00000139722.7 | transcript | ENST00000267202.7 | protein_coding | 1220 | chr12 | TogoVar | |||||||
VPS37B_chr12_122860330_122901124 | 122864419 | CACT | C | downstream_gene_variant | MODIFIER | HG01099.hp2 HG01884.hp2 HG02818.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 a0001c0001t0002g0019 a0001c0001t0002g0149 others(1): Show |
7 | 264 | 0.0265 | -3 | c.*26 others(14): Show |
VPS37B | ENSG00000139722.7 | transcript | ENST00000267202.7 | protein_coding | 910 | chr12 | TogoVar | |||||||
VPS37B_chr12_122860330_122901124 | 122870039 | CTTT | C | intron_variant | MODIFIER | HG01099.hp2 HG01109.hp1 HG01884.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0019 | a0001c0001t0002g0011 a0001c0001t0002g0019 a0001c0001t0002g0035 others(6): Show |
16 | 37 | 0.4324 | -3 | c.283 others(18): Show |
VPS37B | ENSG00000139722.7 | transcript | ENST00000267202.7 | protein_coding | 2/3 | chr12 | TogoVar | |||||||
VPS37B_chr12_122860330_122901124 | 122874947 | CAAA | C | intron_variant | MODIFIER | HG00642.hp2 HG01069.hp1 HG01099.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0036 a0001c0001t0002g0159 a0001c0001t0002g0162 others(8): Show |
11 | 13 | 0.8462 | -3 | c.112 others(20): Show |
VPS37B | ENSG00000139722.7 | transcript | ENST00000267202.7 | protein_coding | 1/3 | chr12 | TogoVar | |||||||
VPS37B_chr12_122860330_122901124 | 122885667 | CATT | C | intron_variant | MODIFIER | HG01975.hp1 HG01975.hp2 HG02258.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0064 a0001c0001t0001g0089 a0001c0001t0001g0090 others(6): Show |
9 | 264 | 0.0341 | -3 | c.111 others(22): Show |
VPS37B | ENSG00000139722.7 | transcript | ENST00000267202.7 | protein_coding | 1/3 | chr12 | TogoVar | |||||||
VPS37B_chr12_122860330_122901124 | 122885680 | ATTT | A | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG02055.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0017 | a0001c0001t0002g0011 a0001c0001t0002g0019 a0001c0001t0002g0035 others(6): Show |
15 | 28 | 0.5357 | -3 | c.111 others(22): Show |
VPS37B | ENSG00000139722.7 | transcript | ENST00000267202.7 | protein_coding | 1/3 | chr12 | TogoVar | |||||||
VPS37C_chr11_61125257_61166426 | 61148578 | TAAA | T | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG00741.hp2 others(27): Show |
a0001a0004a0009 | a0001c0001a0004c0004a0009c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(5): Show | a0001c0001t0001g0038 a0001c0001t0001g0049 a0001c0001t0001g0072 others(26): Show |
30 | 59 | 0.5085 | -3 | c.-6- others(18): Show |
VPS37C | ENSG00000167987.11 | transcript | ENST00000301765.10 | protein_coding | 1/4 | chr11 | TogoVar | |||||||
VPS37C_chr11_61125257_61166426 | 61159901 | CAAA | C | intron_variant | MODIFIER | HG00639.hp2 HG01346.hp1 HG01433.hp2 others(8): Show |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0001a0001c0001t0012a0006c0006t0001 | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0022 others(6): Show |
11 | 68 | 0.1618 | -3 | c.-7+ others(18): Show |
VPS37C | ENSG00000167987.11 | transcript | ENST00000301765.10 | protein_coding | 1/4 | chr11 | TogoVar | |||||||
VPS37D_chr7_73662831_73677110 | 73665234 | CAAA | C | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00735.hp2 HG00738.hp1 others(54): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(7): Show |
57 | 93 | 0.6129 | -3 | c.-27 others(14): Show |
VPS37D | ENSG00000176428.6 | transcript | ENST00000324941.5 | protein_coding | 2596 | chr7 | TogoVar | |||||||
VPS39_chr15_42153701_42213304 | 42170741 | ATTT | A | intron_variant | MODIFIER | HG02109.hp2 HG02257.hp2 HG02258.hp1 others(3): Show |
a0001 | a0001c0004 | a0001c0004t0002a0001c0004t0017 | a0001c0004t0002g0025 a0001c0004t0002g0026 a0001c0004t0002g0027 others(3): Show |
6 | 74 | 0.0811 | -3 | c.109 others(20): Show |
VPS39 | ENSG00000166887.16 | transcript | ENST00000318006.10 | protein_coding | 11/24 | chr15 | TogoVar | |||||||
VPS39_chr15_42153701_42213304 | 42188646 | CCAA | C | intron_variant | MODIFIER | HG01496.hp1 HG01884.hp2 HG02886.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0138 a0001c0003t0004g0140 a0001c0003t0004g0141 others(1): Show |
4 | 334 | 0.0120 | -3 | c.342 others(18): Show |
VPS39 | ENSG00000166887.16 | transcript | ENST00000318006.10 | protein_coding | 5/24 | chr15 | TogoVar | |||||||
VPS39_chr15_42153701_42213304 | 42194936 | GAAA | G | intron_variant | MODIFIER | HG00558.hp1 HG00639.hp2 HG00642.hp1 others(79): Show |
a0001 | a0001c0002a0001c0005a0001c0010 | a0001c0002t0002a0001c0002t0003a0001c0002t0005others(8): Show | a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0086 others(75): Show |
82 | 323 | 0.2539 | -3 | c.140 others(20): Show |
VPS39 | ENSG00000166887.16 | transcript | ENST00000318006.10 | protein_coding | 2/24 | chr15 | TogoVar | |||||||
VPS39_chr15_42153701_42213304 | 42212009 | ATCT | A | upstream_gene_variant | MODIFIER | HG00558.hp1 HG01123.hp1 HG01175.hp1 others(58): Show |
a0001 | a0001c0002a0001c0005a0001c0010others(1): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0005others(6): Show | a0001c0002t0002g0034 a0001c0002t0002g0038 a0001c0002t0003g0006 others(54): Show |
61 | 334 | 0.1826 | -3 | c.-38 others(14): Show |
VPS39 | ENSG00000166887.16 | transcript | ENST00000318006.10 | protein_coding | 3706 | chr15 | TogoVar | |||||||
VPS41_chr7_38717974_38914191 | 38720487 | TATA | T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00735.hp2 others(19): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0027others(9): Show | a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0022 others(19): Show |
22 | 149 | 0.1477 | -3 | c.*57 others(14): Show |
VPS41 | ENSG00000006715.16 | transcript | ENST00000310301.9 | protein_coding | 2486 | chr7 | TogoVar | |||||||
VPS41_chr7_38717974_38914191 | 38761263 | CTTT | C | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00438.hp1 others(73): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0015a0001c0001t0016a0001c0001t0023others(18): Show | a0001c0001t0015g0187 a0001c0001t0015g0189 a0001c0001t0015g0194 others(71): Show |
76 | 77 | 0.9870 | -3 | c.142 others(22): Show |
VPS41 | ENSG00000006715.16 | transcript | ENST00000310301.9 | protein_coding | 17/28 | chr7 | TogoVar | |||||||
VPS41_chr7_38717974_38914191 | 38795147 | AAAC | A | intron_variant | MODIFIER | HG02280.hp2 HG03195.hp1 NA19240.hp1 others(1): Show |
a0001a0005 | a0001c0003a0005c0012 | a0001c0003t0031a0001c0003t0057a0001c0003t0059others(1): Show | a0001c0003t0031g0257 a0001c0003t0057g0114 a0001c0003t0059g0270 others(1): Show |
4 | 276 | 0.0145 | -3 | c.717 others(18): Show |
VPS41 | ENSG00000006715.16 | transcript | ENST00000310301.9 | protein_coding | 9/28 | chr7 | TogoVar | |||||||
VPS41_chr7_38717974_38914191 | 38870739 | CAAA | C | intron_variant | MODIFIER | HG00558.hp2 HG00735.hp1 HG00741.hp1 others(69): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(32): Show | a0001c0001t0002g0215 a0001c0001t0003g0057 a0001c0001t0003g0058 others(68): Show |
72 | 179 | 0.4022 | -3 | c.61- others(18): Show |
VPS41 | ENSG00000006715.16 | transcript | ENST00000310301.9 | protein_coding | 2/28 | chr7 | TogoVar | |||||||
VPS41_chr7_38717974_38914191 | 38874193 | TGAA | T | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00673.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0014a0001c0001t0019others(3): Show | a0001c0001t0005g0034 a0001c0001t0005g0036 a0001c0001t0005g0038 others(19): Show |
22 | 276 | 0.0797 | -3 | c.61- others(18): Show |
VPS41 | ENSG00000006715.16 | transcript | ENST00000310301.9 | protein_coding | 2/28 | chr7 | TogoVar | |||||||
VPS41_chr7_38717974_38914191 | 38902994 | GTGA | G | intron_variant | MODIFIER | NA18983.hp1 NA18991.hp1 NA19004.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0026a0001c0001t0040a0001c0002t0004 | a0001c0001t0026g0267 a0001c0001t0040g0202 a0001c0002t0004g0201 |
3 | 276 | 0.0109 | -3 | c.22- others(18): Show |
VPS41 | ENSG00000006715.16 | transcript | ENST00000310301.9 | protein_coding | 1/28 | chr7 | TogoVar | |||||||
VPS41_chr7_38717974_38914191 | 38913050 | AATC | A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(246): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(68): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(239): Show |
249 | 276 | 0.9022 | -3 | c.-38 others(14): Show |
VPS41 | ENSG00000006715.16 | transcript | ENST00000310301.9 | protein_coding | 3860 | chr7 | TogoVar | |||||||
VPS45_chr1_150062776_150150329 | 150088335 | CCTT | C | intron_variant | MODIFIER | HG01891.hp1 HG02818.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0004 | a0002c0002t0001g0016 a0002c0002t0004g0017 |
2 | 174 | 0.0115 | -3 | c.110 others(22): Show |
VPS45 | ENSG00000136631.16 | transcript | ENST00000644510.2 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS45_chr1_150062776_150150329 | 150105543 | ATAT | A | intron_variant | MODIFIER | HG01891.hp2 HG02630.hp2 HG02723.hp2 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(7): Show |
10 | 174 | 0.0575 | -3 | c.149 others(22): Show |
VPS45 | ENSG00000136631.16 | transcript | ENST00000644510.2 | protein_coding | 13/14 | chr1 | TogoVar | |||||||
VPS45_chr1_150062776_150150329 | 150106677 | TCTC | T | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp1 HG02630.hp1 others(16): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(16): Show |
19 | 174 | 0.1092 | -3 | c.149 others(22): Show |
VPS45 | ENSG00000136631.16 | transcript | ENST00000644510.2 | protein_coding | 13/14 | chr1 | TogoVar | |||||||
VPS4A_chr16_69306350_69331939 | 69310070 | GTTT | G | upstream_gene_variant | MODIFIER | HG00741.hp2 HG01109.hp1 HG02451.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0003g0039 others(7): Show |
15 | 48 | 0.3125 | -3 | c.-14 others(14): Show |
VPS4A | ENSG00000132612.16 | transcript | ENST00000254950.13 | protein_coding | 1279 | chr16 | TogoVar | |||||||
VPS4A_chr16_69306350_69331939 | 69319627 | AGAG | A | intron_variant | MODIFIER | HG00738.hp1 HG02145.hp1 HG02615.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0006 | a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0025 others(5): Show |
13 | 364 | 0.0357 | -3 | c.620 others(16): Show |
VPS4A | ENSG00000132612.16 | transcript | ENST00000254950.13 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
VPS4B_chr18_63384190_63427476 | 63388430 | ACAG | A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(258): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(121): Show |
261 | 384 | 0.6797 | -3 | c.*25 others(14): Show |
VPS4B | ENSG00000119541.10 | transcript | ENST00000238497.10 | protein_coding | 759 | chr18 | TogoVar | |||||||
VPS4B_chr18_63384190_63427476 | 63389215 | AATG | A | 3_prime_UTR_variant | MODIFIER | HG01993.hp1 HG02257.hp1 HG03130.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0012 a0001c0001t0005g0059 |
5 | 384 | 0.0130 | -3 | c.*17 others(14): Show |
VPS4B | ENSG00000119541.10 | transcript | ENST00000238497.10 | protein_coding | 11/11 | 1757 | chr18 | TogoVar | ||||||
VPS4B_chr18_63384190_63427476 | 63413538 | CAAA | C | intron_variant | MODIFIER | HG00735.hp2 HG02145.hp2 HG02486.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0018 a0001c0002t0001g0044 a0001c0002t0001g0045 others(2): Show |
6 | 313 | 0.0192 | -3 | c.28- others(18): Show |
VPS4B | ENSG00000119541.10 | transcript | ENST00000238497.10 | protein_coding | 1/10 | chr18 | TogoVar | |||||||
VPS50_chr7_93227366_93366123 | 93236937 | CTTT | C | intron_variant | MODIFIER | HG00733.hp2 HG01891.hp1 HG02630.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(5): Show | a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0002g0015 others(11): Show |
14 | 132 | 0.1061 | -3 | c.34- others(18): Show |
VPS50 | ENSG00000004766.17 | transcript | ENST00000305866.10 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
VPS50_chr7_93227366_93366123 | 93278773 | ATAG | A | intron_variant | MODIFIER | HG00408.hp1 HG00609.hp2 HG00673.hp2 others(46): Show |
a0001 | a0001c0001a0001c0002a0001c0015others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(14): Show | a0001c0001t0001g0139 a0001c0001t0001g0150 a0001c0001t0002g0101 others(44): Show |
49 | 314 | 0.1561 | -3 | c.942 others(20): Show |
VPS50 | ENSG00000004766.17 | transcript | ENST00000305866.10 | protein_coding | 12/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
VPS50_chr7_93227366_93366123 | 93308118 | AGAT | A | intron_variant | MODIFIER | HG00408.hp1 HG00609.hp2 HG00639.hp1 others(86): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0139 a0001c0001t0001g0150 a0001c0001t0001g0154 others(84): Show |
89 | 200 | 0.4450 | -3 | c.163 others(20): Show |
VPS50 | ENSG00000004766.17 | transcript | ENST00000305866.10 | protein_coding | 18/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
VPS50_chr7_93227366_93366123 | 93311728 | ATGT | A | intron_variant | MODIFIER | HG01243.hp2 HG02145.hp1 HG02622.hp2 others(7): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0013others(1): Show | a0001c0001t0002a0001c0001t0028a0001c0002t0007others(3): Show | a0001c0001t0002g0295 a0001c0001t0002g0299 a0001c0001t0002g0300 others(7): Show |
10 | 314 | 0.0318 | -3 | c.185 others(20): Show |
VPS50 | ENSG00000004766.17 | transcript | ENST00000305866.10 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
VPS50_chr7_93227366_93366123 | 93336839 | TAAA | T | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00558.hp1 others(198): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0012others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0014 others(195): Show |
201 | 314 | 0.6401 | -3 | c.205 others(22): Show |
VPS50 | ENSG00000004766.17 | transcript | ENST00000305866.10 | protein_coding | 22/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
VPS51_chr11_65091214_65116862 | 65091894 | GAAA | G | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00558.hp2 HG00642.hp2 others(46): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 others(20): Show |
49 | 149 | 0.3289 | -3 | c.-43 others(14): Show |
VPS51 | ENSG00000149823.10 | transcript | ENST00000279281.8 | protein_coding | 4319 | chr11 | TogoVar | |||||||
VPS52_chr6_33245278_33276876 | 33252588 | CAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(117): Show |
a0001a0003 | a0001c0002a0001c0005a0001c0007others(1): Show | a0001c0002t0001a0001c0002t0004a0001c0002t0011others(3): Show | a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0005 others(71): Show |
120 | 229 | 0.5240 | -3 | c.179 others(20): Show |
VPS52 | ENSG00000223501.9 | transcript | ENST00000445902.3 | protein_coding | 17/19 | chr6 | TogoVar | |||||||
VPS52_chr6_33245278_33276876 | 33253981 | CATA | C | intron_variant | MODIFIER | HG00741.hp2 HG01123.hp2 HG02622.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0032 others(3): Show |
12 | 324 | 0.0370 | -3 | c.179 others(22): Show |
VPS52 | ENSG00000223501.9 | transcript | ENST00000445902.3 | protein_coding | 17/19 | chr6 | TogoVar | |||||||
VPS52_chr6_33245278_33276876 | 33270950 | CAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(67): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0004others(3): Show | a0001c0001t0002g0021 a0001c0001t0002g0067 a0001c0001t0002g0068 others(39): Show |
70 | 178 | 0.3933 | -3 | c.90+ others(16): Show |
VPS52 | ENSG00000223501.9 | transcript | ENST00000445902.3 | protein_coding | 1/19 | chr6 | TogoVar | |||||||
VPS53_chr17_503668_719839 | 518766 | CAAA | C | 3_prime_UTR_variant | MODIFIER | HG00423.hp2 HG01074.hp2 HG01099.hp1 others(45): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0015a0001c0001t0031a0001c0001t0032others(27): Show | a0001c0001t0015g0130 a0001c0001t0015g0131 a0001c0001t0015g0135 others(45): Show |
48 | 101 | 0.4752 | -3 | c.*35 others(12): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 22/22 | 359 | chr17 | TogoVar | ||||||
VPS53_chr17_503668_719839 | 528595 | CTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(152): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0006others(10): Show | a0001c0001t0002a0001c0001t0011a0001c0001t0015others(97): Show | a0001c0001t0002g0121 a0001c0001t0002g0128 a0001c0001t0002g0133 others(152): Show |
155 | 194 | 0.7990 | -3 | c.208 others(22): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 19/21 | chr17 | TogoVar | |||||||
VPS53_chr17_503668_719839 | 530389 | GTGA | G | intron_variant | MODIFIER | NA18940.hp1 NA18961.hp2 |
a0001a0003 | a0001c0002a0003c0004 | a0001c0002t0023a0003c0004t0023 | a0001c0002t0023g0085 a0003c0004t0023g0004 |
2 | 230 | 0.0087 | -3 | c.208 others(22): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 19/21 | chr17 | TogoVar | |||||||
VPS53_chr17_503668_719839 | 546869 | CCTT | C | intron_variant | MODIFIER | HG01074.hp2 HG01168.hp2 HG02074.hp2 others(10): Show |
a0001a0002a0003 | a0001c0002a0001c0005a0001c0011others(3): Show | a0001c0002t0045a0001c0005t0010a0001c0005t0021others(9): Show | a0001c0002t0045g0064 a0001c0005t0010g0007 a0001c0005t0010g0008 others(10): Show |
13 | 229 | 0.0568 | -3 | c.186 others(22): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 17/21 | chr17 | TogoVar | |||||||
VPS53_chr17_503668_719839 | 566607 | TGGA | T | intron_variant | MODIFIER | HG01099.hp1 HG01981.hp1 HG02083.hp1 others(5): Show |
a0002 | a0002c0003 | a0002c0003t0008a0002c0003t0087a0002c0003t0088others(2): Show | a0002c0003t0008g0180 a0002c0003t0008g0182 a0002c0003t0008g0183 others(5): Show |
8 | 230 | 0.0348 | -3 | c.131 others(22): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 13/21 | chr17 | TogoVar | |||||||
VPS53_chr17_503668_719839 | 567665 | TAGG | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0013 | a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0013g0078 |
3 | 230 | 0.0130 | -3 | c.131 others(22): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 13/21 | chr17 | TogoVar | |||||||
VPS53_chr17_503668_719839 | 570372 | CAAA | C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00423.hp2 others(69): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0002a0001c0006others(6): Show | a0001c0001t0002a0001c0001t0011a0001c0001t0015others(45): Show | a0001c0001t0002g0121 a0001c0001t0002g0128 a0001c0001t0002g0133 others(69): Show |
72 | 112 | 0.6429 | -3 | c.131 others(22): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 13/21 | chr17 | TogoVar | |||||||
VPS53_chr17_503668_719839 | 599773 | AAAC | A | intron_variant | MODIFIER | HG01167.hp1 HG02040.hp1 NA18946.hp1 others(4): Show |
a0002a0005 | a0002c0003a0005c0009 | a0002c0003t0009a0002c0003t0018a0002c0003t0090others(4): Show | a0002c0003t0009g0186 a0002c0003t0018g0179 a0002c0003t0090g0173 others(4): Show |
7 | 230 | 0.0304 | -3 | c.121 others(22): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 12/21 | chr17 | TogoVar |