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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GOLGA6L22_chr15_22453903_22474226 | 22466606 | G | GGAGCAGG others(179): Show |
conservative_inframe_insertion | MODERATE | NA18978.hp1 NA19064.hp2 |
a0012 | a0012c0019 | a0012c0019t0001 | a0012c0019t0001g0001 | 2 | 226 | 0.0089 | 186 | c.235 others(195): Show |
p.Glu others(199): Show |
GOLGA6L22 | ENSG00000277865.6 | transcript | ENST00000622895.2 | protein_coding | 8/9 | 2447/4401 | 2356/2565 | 786/854 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
GOLGA6L22_chr15_22453903_22474226 | 22466625 | C | CGGGAGCA others(14): Show |
conservative_inframe_insertion | MODERATE | HG01891.hp1 HG02970.hp2 |
a0015 | a0015c0023 | a0015c0023t0003 | a0015c0023t0003g0010 | 2 | 226 | 0.0089 | 21 | c.238 others(30): Show |
p.Ile others(34): Show |
GOLGA6L22 | ENSG00000277865.6 | transcript | ENST00000622895.2 | protein_coding | 8/9 | 2477/4401 | 2386/2565 | 796/854 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
GOLGA6L24_chr15_28342851_28363084 | 28350820 | T | TCTGCTCC others(14): Show |
conservative_inframe_insertion | MODERATE | NA19086.hp2 | a0044 | a0044c0044 | a0044c0044t0002 | a0044c0044t0002g0083 | 1 | 200 | 0.0050 | 21 | c.190 others(30): Show |
p.Gln others(34): Show |
GOLGA6L24 | ENSG00000237850.8 | transcript | ENST00000568624.2 | protein_coding | 8/9 | 1990/4304 | 1929/2499 | 643/832 | chr15 | TogoVar | ||
GOLGA6L24_chr15_28342851_28363084 | 28351221 | T | TCCTCCTG others(152): Show |
conservative_inframe_insertion | MODERATE | HG00733.hp2 | a0023 | a0023c0023 | a0023c0023t0003 | a0023c0023t0003g0037 | 1 | 200 | 0.0050 | 159 | c.152 others(168): Show |
p.Glu others(172): Show |
GOLGA6L24 | ENSG00000237850.8 | transcript | ENST00000568624.2 | protein_coding | 8/9 | 1589/4304 | 1528/2499 | 510/832 | chr15 | TogoVar | ||
GOLGA6L24_chr15_28342851_28363084 | 28351546 | T | TCTCCTGC others(14): Show |
conservative_inframe_insertion | MODERATE | HG01069.hp2 HG01109.hp2 HG01169.hp1 others(3): Show |
a0008a0024 | a0008c0008a0024c0027 | a0008c0008t0001a0024c0027t0003 | a0008c0008t0001g0007a0024c0027t0003g0034 | 6 | 200 | 0.0300 | 21 | c.118 others(30): Show |
p.Glu others(34): Show |
GOLGA6L24 | ENSG00000237850.8 | transcript | ENST00000568624.2 | protein_coding | 8/9 | 1264/4304 | 1203/2499 | 401/832 | chr15 | TogoVar | ||
GOLGA6L25_chr15_28548568_28568779 | 28560062 | A | AGAGAAGA others(14): Show |
conservative_inframe_insertion | MODERATE | NA18947.hp2 NA19005.hp2 |
a0010 | a0010c0013 | a0010c0013t0002 | a0010c0013t0002g0003 | 2 | 98 | 0.0204 | 21 | c.116 others(30): Show |
p.Glu others(13): Show |
GOLGA6L25 | ENSG00000227717.5 | transcript | ENST00000620691.5 | protein_coding | 8/9 | 1247/4286 | 1186/2481 | 396/826 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
GOLGA6L25_chr15_28548568_28568779 | 28560496 | G | GGCAGGAG others(14): Show |
conservative_inframe_insertion | MODERATE | HG03669.hp1 | a0016 | a0016c0021 | a0016c0021t0003 | a0016c0021t0003g0002 | 1 | 98 | 0.0102 | 21 | c.161 others(30): Show |
p.Ile others(13): Show |
GOLGA6L25 | ENSG00000227717.5 | transcript | ENST00000620691.5 | protein_coding | 8/9 | 1694/4286 | 1633/2481 | 545/826 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
GOLGA6L26_chr15_23319535_23339196 | 23327225 | T | TCTC | conservative_inframe_insertion | MODERATE | HG00733.hp2 HG00741.hp2 HG01069.hp1 others(92): Show |
a0001a0006a0014others(13): Show | a0001c0001a0001c0005a0006c0007others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(56): Show | 95 | 182 | 0.5220 | 3 | c.163 others(12): Show |
p.Glu others(6): Show |
GOLGA6L26 | ENSG00000273756.5 | transcript | ENST00000618455.5 | protein_coding | 8/9 | 1696/3731 | 1635/1950 | 545/649 | chr15 | TogoVar | ||
GOLGA6L26_chr15_23319535_23339196 | 23327474 | T | TCTC | conservative_inframe_insertion | MODERATE | HG00733.hp2 HG00741.hp2 HG01069.hp1 others(92): Show |
a0001a0006a0014others(13): Show | a0001c0001a0001c0005a0006c0007others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(56): Show | 95 | 182 | 0.5220 | 3 | c.138 others(12): Show |
p.Glu others(6): Show |
GOLGA6L26 | ENSG00000273756.5 | transcript | ENST00000618455.5 | protein_coding | 8/9 | 1447/3731 | 1386/1950 | 462/649 | chr15 | TogoVar | ||
GOLGA6L26_chr15_23319535_23339196 | 23327810 | C | CCTCCTTC others(35): Show |
conservative_inframe_insertion | MODERATE | NA18966.hp1 | a0048 | a0048c0047 | a0048c0047t0003 | a0048c0047t0003g0093 | 1 | 182 | 0.0055 | 42 | c.105 others(51): Show |
p.Glu others(55): Show |
GOLGA6L26 | ENSG00000273756.5 | transcript | ENST00000618455.5 | protein_coding | 8/9 | 1111/3731 | 1050/1950 | 350/649 | chr15 | TogoVar | ||
GOLGA6L26_chr15_23319535_23339196 | 23327836 | A | AGCCTCCG others(35): Show |
conservative_inframe_insertion | MODERATE | HG01943.hp1 HG02717.hp1 HG02723.hp1 others(6): Show |
a0011a0019a0024others(3): Show | a0011c0010a0019c0019a0024c0026others(3): Show | a0011c0010t0001a0011c0010t0003a0019c0019t0001others(5): Show | a0011c0010t0001g0019a0011c0010t0003g0116a0019c0019t0001g0103others(5): Show | 9 | 182 | 0.0495 | 42 | c.983 others(50): Show |
p.Gln others(13): Show |
GOLGA6L26 | ENSG00000273756.5 | transcript | ENST00000618455.5 | protein_coding | 8/9 | 1085/3731 | 1024/1950 | 342/649 | chr15 | TogoVar | ||
GOLGA6L26_chr15_23319535_23339196 | 23327836 | A | AGCCTCCG others(77): Show |
conservative_inframe_insertion | MODERATE | HG00408.hp1 HG04199.hp2 |
a0028a0040 | a0028c0031a0040c0043 | a0028c0031t0002a0040c0043t0002 | a0028c0031t0002g0035a0040c0043t0002g0058 | 2 | 182 | 0.0110 | 84 | c.941 others(92): Show |
p.Gln others(13): Show |
GOLGA6L26 | ENSG00000273756.5 | transcript | ENST00000618455.5 | protein_coding | 8/9 | 1085/3731 | 1024/1950 | 342/649 | chr15 | TogoVar | ||
GOLGA6L26_chr15_23319535_23339196 | 23327890 | T | TTCTCCTC others(14): Show |
conservative_inframe_insertion | MODERATE | NA21309.hp1 | a0055 | a0055c0059 | a0055c0059t0002 | a0055c0059t0002g0115 | 1 | 182 | 0.0055 | 21 | c.950 others(28): Show |
p.Met others(13): Show |
GOLGA6L26 | ENSG00000273756.5 | transcript | ENST00000618455.5 | protein_coding | 8/9 | 1031/3731 | 970/1950 | 324/649 | chr15 | TogoVar | ||
GOLGA6L26_chr15_23319535_23339196 | 23327945 | C | CCCACATC others(14): Show |
conservative_inframe_insertion | MODERATE | NA18942.hp2 | a0049 | a0049c0054 | a0049c0054t0003 | a0049c0054t0003g0095 | 1 | 182 | 0.0055 | 21 | c.915 others(28): Show |
p.Arg others(34): Show |
GOLGA6L26 | ENSG00000273756.5 | transcript | ENST00000618455.5 | protein_coding | 8/9 | 976/3731 | 915/1950 | 305/649 | chr15 | TogoVar | ||
GOLGA6L26_chr15_23319535_23339196 | 23334081 | G | GGTGGGGA others(11): Show |
conservative_inframe_insertion | MODERATE | HG00735.hp1 HG01099.hp1 HG01175.hp1 others(27): Show |
a0002a0006a0011others(3): Show | a0002c0002a0002c0060a0006c0007others(4): Show | a0002c0002t0002a0002c0060t0001a0006c0007t0001others(6): Show | a0002c0002t0002g0002a0002c0002t0002g0009a0002c0002t0002g0118others(13): Show | 30 | 182 | 0.1648 | 18 | c.54_ others(23): Show |
p.His others(29): Show |
GOLGA6L26 | ENSG00000273756.5 | transcript | ENST00000618455.5 | protein_coding | 1/9 | 115/3731 | 54/1950 | 18/649 | chr15 | TogoVar | ||
GOLGA6L26_chr15_23319535_23339196 | 23334081 | G | GGTGGGGA others(83): Show |
conservative_inframe_insertion | MODERATE | HG03942.hp2 | a0052 | a0052c0056 | a0052c0056t0002 | a0052c0056t0002g0112 | 1 | 182 | 0.0055 | 90 | c.54_ others(95): Show |
p.His others(101): Show |
GOLGA6L26 | ENSG00000273756.5 | transcript | ENST00000618455.5 | protein_coding | 1/9 | 115/3731 | 54/1950 | 18/649 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23439857 | G | GCAT | conservative_inframe_insertion | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(384): Show |
a0000a0001a0002others(26): Show | a0000c0002a0000c0004a0000c0012others(72): Show | a0000c0002t0002a0000c0002t0005a0000c0002t0011others(93): Show | a0000c0002t0002g0003a0000c0002t0002g0005a0000c0002t0002g0040others(129): Show | 387 | 396 | 0.9773 | 3 | c.261 others(12): Show |
p.Asp others(6): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2679/3499 | 2617/2730 | 873/909 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23440076 | C | CCTGGCCC others(452): Show |
conservative_inframe_insertion | MODERATE | HG03491.hp1 HG03492.hp1 |
a0001 | a0001c0027 | a0001c0027t0001 | a0001c0027t0001g0032 | 2 | 396 | 0.0051 | 459 | c.239 others(468): Show |
p.Ala others(472): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2460/3499 | 2398/2730 | 800/909 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23440076 | C | CCTGGCCC others(428): Show |
conservative_inframe_insertion | MODERATE | HG03927.hp2 HG04115.hp2 |
a0009 | a0009c0021 | a0009c0021t0014 | a0009c0021t0014g0056a0009c0021t0014g0057 | 2 | 396 | 0.0051 | 435 | c.239 others(444): Show |
p.Ala others(448): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2460/3499 | 2398/2730 | 800/909 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23440076 | C | CCTGGCCC others(428): Show |
conservative_inframe_insertion | MODERATE | HG02615.hp1 HG02818.hp2 HG02970.hp1 others(5): Show |
a0002a0026a0027 | a0002c0011a0002c0041a0026c0040others(1): Show | a0002c0011t0008a0002c0041t0007a0026c0040t0022others(1): Show | a0002c0011t0008g0018a0002c0011t0008g0138a0002c0041t0007g0126others(2): Show | 8 | 396 | 0.0202 | 435 | c.239 others(444): Show |
p.Ala others(448): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2460/3499 | 2398/2730 | 800/909 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23440076 | C | CCTGGCCC others(455): Show |
conservative_inframe_insertion | MODERATE | NA18522.hp2 NA19240.hp2 |
a0008 | a0008c0026 | a0008c0026t0005 | a0008c0026t0005g0044 | 2 | 396 | 0.0051 | 462 | c.239 others(471): Show |
p.Ala others(475): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2460/3499 | 2398/2730 | 800/909 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23440076 | C | CCTGGCCC others(494): Show |
conservative_inframe_insertion | MODERATE | HG04115.hp1 | a0001 | a0001c0057 | a0001c0057t0001 | a0001c0057t0001g0097 | 1 | 396 | 0.0025 | 501 | c.239 others(510): Show |
p.Ala others(514): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2460/3499 | 2398/2730 | 800/909 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23440076 | C | CCTGGCCC others(599): Show |
conservative_inframe_insertion | MODERATE | NA18951.hp2 | a0001 | a0001c0063 | a0001c0063t0009 | a0001c0063t0009g0078 | 1 | 396 | 0.0025 | 606 | c.239 others(615): Show |
p.Ala others(619): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2460/3499 | 2398/2730 | 800/909 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23440076 | C | CCTGGCCC others(431): Show |
conservative_inframe_insertion | MODERATE | HG01358.hp1 | a0001 | a0001c0054 | a0001c0054t0001 | a0001c0054t0001g0071 | 1 | 396 | 0.0025 | 438 | c.239 others(447): Show |
p.Ala others(451): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2460/3499 | 2398/2730 | 800/909 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23440076 | C | CCTGGCCC others(431): Show |
conservative_inframe_insertion | MODERATE | NA19082.hp1 | a0001 | a0001c0055 | a0001c0055t0001 | a0001c0055t0001g0072 | 1 | 396 | 0.0025 | 438 | c.239 others(447): Show |
p.Ala others(451): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2460/3499 | 2398/2730 | 800/909 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23440076 | C | CCTGGCCC others(431): Show |
conservative_inframe_insertion | MODERATE | NA19000.hp1 | a0001 | a0001c0053 | a0001c0053t0001 | a0001c0053t0001g0070 | 1 | 396 | 0.0025 | 438 | c.239 others(447): Show |
p.Ala others(451): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2460/3499 | 2398/2730 | 800/909 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23440175 | T | TCTTCTCC others(56): Show |
conservative_inframe_insertion | MODERATE | NA18612.hp2 | a0001 | a0001c0066 | a0001c0066t0001 | a0001c0066t0001g0079 | 1 | 396 | 0.0025 | 63 | c.229 others(72): Show |
p.Gly others(76): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2361/3499 | 2299/2730 | 767/909 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23440178 | C | CCTCCTGC others(98): Show |
conservative_inframe_insertion | MODERATE | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(278): Show |
a0001a0002a0003others(24): Show | a0001c0001a0001c0003a0001c0005others(53): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(64): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0019others(92): Show | 281 | 396 | 0.7096 | 105 | c.229 others(114): Show |
p.Gly others(118): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2358/3499 | 2296/2730 | 766/909 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23440178 | C | CCTCCTGC others(98): Show |
conservative_inframe_insertion | MODERATE | HG00099.hp1 HG01361.hp1 HG01928.hp1 others(6): Show |
a0004 | a0004c0006 | a0004c0006t0001a0004c0006t0003a0004c0006t0004 | a0004c0006t0001g0010a0004c0006t0003g0020a0004c0006t0004g0068 | 9 | 396 | 0.0227 | 105 | c.229 others(114): Show |
p.Gly others(118): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2358/3499 | 2296/2730 | 766/909 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23440178 | C | CCTCCTGC others(98): Show |
conservative_inframe_insertion | MODERATE | HG02258.hp2 HG02615.hp1 HG02717.hp2 others(11): Show |
a0002a0027 | a0002c0008a0002c0011a0027c0039 | a0002c0008t0007a0002c0008t0013a0002c0008t0021others(3): Show | a0002c0008t0007g0016a0002c0008t0013g0043a0002c0008t0021g0127others(4): Show | 14 | 396 | 0.0354 | 105 | c.229 others(114): Show |
p.Gly others(118): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2358/3499 | 2296/2730 | 766/909 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23440328 | C | CTGCATCT others(11): Show |
conservative_inframe_insertion | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(285): Show |
a0000a0001a0003others(23): Show | a0000c0051a0001c0001a0001c0003others(53): Show | a0000c0051t0001a0001c0001t0001a0001c0001t0003others(66): Show | a0000c0051t0001g0067a0001c0001t0001g0001a0001c0001t0001g0002others(93): Show | 288 | 396 | 0.7273 | 18 | c.214 others(27): Show |
p.Cys others(31): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2208/3499 | 2146/2730 | 716/909 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23440731 | C | CTCCCACA others(14): Show |
conservative_inframe_insertion | MODERATE | HG02129.hp2 | a0020 | a0020c0049 | a0020c0049t0001 | a0020c0049t0001g0094 | 1 | 396 | 0.0025 | 21 | c.172 others(30): Show |
p.Gly others(34): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 1805/3499 | 1743/2730 | 581/909 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23441081 | G | GTCTCCTC others(14): Show |
conservative_inframe_insertion | MODERATE | HG00140.hp2 HG00438.hp1 HG00438.hp2 others(51): Show |
a0000 | a0000c0002a0000c0023a0000c0034others(2): Show | a0000c0002t0002a0000c0002t0005a0000c0002t0011others(5): Show | a0000c0002t0002g0003a0000c0002t0002g0005a0000c0002t0002g0040others(10): Show | 54 | 396 | 0.1364 | 21 | c.137 others(30): Show |
p.Lys others(13): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 1455/3499 | 1393/2730 | 465/909 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23441081 | G | GTCTCCTC others(14): Show |
conservative_inframe_insertion | MODERATE | HG03540.hp2 NA18906.hp2 |
a0000 | a0000c0025 | a0000c0025t0002 | a0000c0025t0002g0029 | 2 | 396 | 0.0051 | 21 | c.139 others(30): Show |
p.Glu others(34): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 1455/3499 | 1393/2730 | 465/909 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23441201 | T | TTCTCCAC others(74): Show |
conservative_inframe_insertion | MODERATE | HG02486.hp1 HG02630.hp2 HG02896.hp1 others(5): Show |
a0005a0022 | a0005c0009a0022c0072 | a0005c0009t0001a0022c0072t0001 | a0005c0009t0001g0011a0005c0009t0001g0037a0022c0072t0001g0054 | 8 | 396 | 0.0202 | 81 | c.119 others(90): Show |
p.Arg others(13): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 1335/3499 | 1273/2730 | 425/909 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23441436 | C | CCTGCTCC others(11): Show |
conservative_inframe_insertion | MODERATE | HG02055.hp1 | a0023 | a0023c0047 | a0023c0047t0004 | a0023c0047t0004g0049 | 1 | 396 | 0.0025 | 18 | c.103 others(27): Show |
p.Gln others(31): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 1100/3499 | 1038/2730 | 346/909 | chr15 | TogoVar | ||
GOLGA6L4_chr15_84230773_84250358 | 84240125 | A | ACGTGAAC others(182): Show |
conservative_inframe_insertion | MODERATE | HG03453.hp2 | a0048 | a0048c0039 | a0048c0039t0032 | a0048c0039t0032g0032 | 1 | 251 | 0.0040 | 189 | c.771 others(196): Show |
p.Leu others(202): Show |
GOLGA6L4 | ENSG00000184206.13 | transcript | ENST00000510439.7 | protein_coding | 6/9 | 834/4553 | 772/1725 | 258/574 | chr15 | TogoVar | ||
GOLGA6L4_chr15_84230773_84250358 | 84240273 | C | CGTGAACA others(14): Show |
conservative_inframe_insertion | MODERATE | NA18612.hp2 NA18947.hp2 NA18964.hp2 |
a0015 | a0015c0022 | a0015c0022t0001 | a0015c0022t0001g0010 | 3 | 251 | 0.0120 | 21 | c.931 others(28): Show |
p.Glu others(13): Show |
GOLGA6L4 | ENSG00000184206.13 | transcript | ENST00000510439.7 | protein_coding | 6/9 | 1014/4553 | 952/1725 | 318/574 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
GOLGA6L7_chr15_28836832_28853644 | 28842627 | G | GCATCTGC others(14): Show |
conservative_inframe_insertion | MODERATE | HG03491.hp2 HG03492.hp2 HG04199.hp1 |
a0012 | a0012c0015 | a0012c0015t0001 | a0012c0015t0001g0030 | 3 | 422 | 0.0071 | 21 | c.145 others(30): Show |
p.Met others(34): Show |
GOLGA6L7 | ENSG00000261649.7 | transcript | ENST00000567390.7 | protein_coding | 9/9 | 1571/2367 | 1476/1869 | 492/622 | chr15 | TogoVar | ||
GOLGA6L7_chr15_28836832_28853644 | 28843038 | G | GCATCTGC others(35): Show |
conservative_inframe_insertion | MODERATE | NA19089.hp2 | a0046 | a0046c0031 | a0046c0031t0003 | a0046c0031t0003g0104 | 1 | 422 | 0.0024 | 42 | c.106 others(51): Show |
p.Met others(55): Show |
GOLGA6L7 | ENSG00000261649.7 | transcript | ENST00000567390.7 | protein_coding | 9/9 | 1160/2367 | 1065/1869 | 355/622 | chr15 | TogoVar | ||
GOLGA6L7_chr15_28836832_28853644 | 28843122 | C | CCATCTGC others(14): Show |
conservative_inframe_insertion | MODERATE | NA19082.hp2 | a0031 | a0031c0047 | a0031c0047t0001 | a0031c0047t0001g0118 | 1 | 422 | 0.0024 | 21 | c.961 others(28): Show |
p.Met others(34): Show |
GOLGA6L7 | ENSG00000261649.7 | transcript | ENST00000567390.7 | protein_coding | 9/9 | 1076/2367 | 981/1869 | 327/622 | chr15 | TogoVar | ||
GOLGA6L7_chr15_28836832_28853644 | 28843236 | C | CCTCCTGC others(56): Show |
conservative_inframe_insertion | MODERATE | HG01175.hp2 | a0048 | a0048c0024 | a0048c0024t0003 | a0048c0024t0003g0050 | 1 | 422 | 0.0024 | 63 | c.867 others(70): Show |
p.Glu others(76): Show |
GOLGA6L7 | ENSG00000261649.7 | transcript | ENST00000567390.7 | protein_coding | 9/9 | 962/2367 | 867/1869 | 289/622 | chr15 | TogoVar | ||
GOLGA6L9_chr15_82424816_82444153 | 82434497 | T | TCTGCGGG others(11): Show |
conservative_inframe_insertion | MODERATE | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(107): Show |
a0003a0006a0008others(2): Show | a0003c0003a0003c0004a0003c0022others(4): Show | a0003c0003t0003a0003c0003t0005a0003c0003t0012others(18): Show | a0003c0003t0003g0001a0003c0003t0003g0036a0003c0003t0003g0038others(33): Show | 110 | 455 | 0.2418 | 18 | c.916 others(25): Show |
p.Leu others(13): Show |
GOLGA6L9 | ENSG00000197978.10 | transcript | ENST00000618348.2 | protein_coding | 6/9 | 1198/4305 | 934/1299 | 312/432 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
GOLGA6L9_chr15_82424816_82444153 | 82434497 | T | TCTGTGGG others(11): Show |
conservative_inframe_insertion | MODERATE | HG02615.hp2 | a0026 | a0026c0033 | a0026c0033t0055 | a0026c0033t0055g0087 | 1 | 455 | 0.0022 | 18 | c.900 others(25): Show |
p.Leu others(31): Show |
GOLGA6L9 | ENSG00000197978.10 | transcript | ENST00000618348.2 | protein_coding | 6/9 | 1165/4305 | 901/1299 | 301/432 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
GOLGA8B_chr15_34520095_34588651 | 34529089 | G | GCTGCTCC others(14): Show |
conservative_inframe_insertion | MODERATE | NA18612.hp2 | a0020 | a0020c0016 | a0020c0016t0003 | a0020c0016t0003g0073 | 1 | 198 | 0.0051 | 21 | c.101 others(30): Show |
p.Gln others(34): Show |
GOLGA8B | ENSG00000215252.12 | transcript | ENST00000683415.1 | protein_coding | 19/24 | 2293/5607 | 1035/1812 | 345/603 | chr15 | TogoVar | ||
GOLGA8F_chr15_28373664_28397021 | 28385267 | A | AAAGGAGA others(14): Show |
conservative_inframe_insertion | MODERATE | NA18969.hp1 | a0025 | a0025c0039 | a0025c0039t0002 | a0025c0039t0002g0046 | 1 | 270 | 0.0037 | 21 | c.102 others(30): Show |
p.Lys others(13): Show |
GOLGA8F | ENSG00000153684.16 | transcript | ENST00000526619.7 | protein_coding | 12/19 | 1140/4967 | 1042/1911 | 348/636 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
GOLGA8K_chr15_32384599_32408292 | 32393513 | C | CTTG | conservative_inframe_insertion | MODERATE | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(220): Show |
a0001a0003a0005others(22): Show | a0001c0001a0001c0019a0001c0021others(28): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(64): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(146): Show | 223 | 399 | 0.5589 | 3 | c.142 others(12): Show |
p.Lys others(16): Show |
GOLGA8K | ENSG00000249931.5 | transcript | ENST00000512626.3 | protein_coding | 16/19 | 1520/5174 | 1422/1893 | 474/630 | chr15 | TogoVar | ||
GOLGA8K_chr15_32384599_32408292 | 32394224 | T | TCTC | conservative_inframe_insertion | MODERATE | HG00323.hp1 HG01069.hp1 HG01433.hp1 others(39): Show |
a0007a0009a0012others(14): Show | a0007c0009a0007c0022a0009c0010others(16): Show | a0007c0009t0002a0007c0022t0010a0007c0022t0023others(21): Show | a0007c0009t0002g0037a0007c0009t0002g0077a0007c0009t0002g0078others(34): Show | 42 | 399 | 0.1053 | 3 | c.128 others(12): Show |
p.Gly others(6): Show |
GOLGA8K | ENSG00000249931.5 | transcript | ENST00000512626.3 | protein_coding | 15/19 | 1383/5174 | 1285/1893 | 429/630 | chr15 | TogoVar | ||
GOLGA8R_chr15_30395562_30419260 | 30407965 | C | CTTG | conservative_inframe_insertion | MODERATE | HG02129.hp1 NA18979.hp1 |
a0019a0021 | a0019c0025a0021c0041 | a0019c0025t0047a0021c0041t0030 | a0019c0025t0047g0133a0021c0041t0030g0071 | 2 | 184 | 0.0109 | 3 | c.813 others(10): Show |
p.Gln others(6): Show |
GOLGA8R | ENSG00000186399.11 | transcript | ENST00000327271.11 | protein_coding | 11/19 | 911/5172 | 813/1896 | 271/631 | chr15 | TogoVar | ||
GOLGA8S_chr15_23349748_23373341 | 23361377 | G | GGGAGCAG others(14): Show |
conservative_inframe_insertion | MODERATE | HG01884.hp2 HG02145.hp2 HG02723.hp1 others(6): Show |
a0017a0025a0026others(2): Show | a0017c0018a0025c0025a0026c0041others(2): Show | a0017c0018t0001a0017c0018t0031a0025c0025t0012others(3): Show | a0017c0018t0001g0082a0017c0018t0001g0084a0017c0018t0031g0083others(6): Show | 9 | 430 | 0.0209 | 21 | c.107 others(30): Show |
p.Gln others(34): Show |
GOLGA8S | ENSG00000261739.3 | transcript | ENST00000562295.3 | protein_coding | 12/19 | 1140/5186 | 1078/1917 | 360/638 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |