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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GNA14_chr9_77418079_77653322 | 77623216 | CAAAAAAA others(14): Show |
C | intron_variant | MODIFIER | HG02809.hp2 HG03579.hp2 NA19043.hp1 |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0002a0001c0002t0001a0001c0005t0015 | a0001c0001t0002g0233 a0001c0002t0001g0124 a0001c0005t0015g0141 |
3 | 38 | 0.0789 | -21 | c.124 others(40): Show |
GNA14 | ENSG00000156049.7 | transcript | ENST00000341700.7 | protein_coding | 1/6 | chr9 | TogoVar | |||||||
GNA15_chr19_3131033_3168749 | 3135844 | ATATATAT others(14): Show |
A | upstream_gene_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0007 | a0001c0007t0010 | a0001c0007t0010g0373 | 1 | 438 | 0.0023 | -21 | c.-60 others(30): Show |
GNA15 | ENSG00000060558.4 | transcript | ENST00000262958.4 | protein_coding | 188 | chr19 | TogoVar | |||||||
GNAI1_chr7_80129831_80231181 | 80159901 | AGATATAT others(14): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(90): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(40): Show | a0001c0001t0001g0257 a0001c0001t0001g0289 a0001c0001t0001g0302 others(88): Show |
93 | 310 | 0.3000 | -21 | c.118 others(40): Show |
GNAI1 | ENSG00000127955.17 | transcript | ENST00000649796.2 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GNAI2_chr3_50231204_50264362 | 50253196 | GAGGGGCT others(14): Show |
G | intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 328 | 0.0030 | -21 | c.464 others(34): Show |
GNAI2 | ENSG00000114353.17 | transcript | ENST00000313601.11 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GNB5_chr15_52110100_52196392 | 52119425 | AGGAGGAG others(14): Show |
A | 3_prime_UTR_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0062 | 1 | 287 | 0.0035 | -21 | c.*33 others(32): Show |
GNB5 | ENSG00000069966.19 | transcript | ENST00000261837.12 | protein_coding | 13/13 | 3311 | chr15 | TogoVar | ||||||
GNB5_chr15_52110100_52196392 | 52190778 | TAAAAAAA others(14): Show |
T | intron_variant | MODIFIER | HG02004.hp2 NA18969.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0149 | a0001c0001t0001g0258 a0001c0002t0149g0259 |
2 | 4 | 0.5000 | -21 | c.-19 others(36): Show |
GNB5 | ENSG00000069966.19 | transcript | ENST00000261837.12 | protein_coding | 1/12 | chr15 | TogoVar | |||||||
GNG7_chr19_2506219_2707694 | 2553528 | CATGTAAC others(14): Show |
C | intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0057 | a0001c0001t0057g0145 | 1 | 204 | 0.0049 | -21 | c.-38 others(38): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 3/4 | chr19 | TogoVar | |||||||
GNG7_chr19_2506219_2707694 | 2657350 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0086 | a0001c0001t0086g0005 | 1 | 190 | 0.0053 | -21 | c.-13 others(42): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
GNG7_chr19_2506219_2707694 | 2657352 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0024 | a0001c0001t0018g0138 a0001c0001t0024g0056 |
2 | 200 | 0.0100 | -21 | c.-13 others(42): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
GNG7_chr19_2506219_2707694 | 2657362 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0068 | a0001c0001t0068g0146 | 1 | 194 | 0.0052 | -21 | c.-13 others(42): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
GNG7_chr19_2506219_2707694 | 2696339 | AAAGAAAG others(14): Show |
A | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0087 | a0001c0001t0087g0007 | 1 | 204 | 0.0049 | -21 | c.-13 others(40): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
GNL2_chr1_37561816_37600937 | 37595132 | ATTGTCAA others(14): Show |
A | intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 374 | 0.0027 | -21 | c.64+ others(34): Show |
GNL2 | ENSG00000134697.13 | transcript | ENST00000373062.8 | protein_coding | 1/15 | chr1 | TogoVar | |||||||
GOLGA3_chr12_132763914_132833869 | 132781909 | TCAACTAA others(14): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02886.hp1 HG03471.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0006a0001c0003t0048 | a0001c0001t0001g0136 a0001c0003t0006g0056 a0001c0003t0006g0057 others(2): Show |
5 | 306 | 0.0163 | -21 | c.346 others(38): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 17/23 | chr12 | TogoVar | |||||||
GOLGA3_chr12_132763914_132833869 | 132807781 | GGCCCCAC others(14): Show |
G | intron_variant | MODIFIER | HG00642.hp1 HG00673.hp1 HG01167.hp2 others(14): Show |
a0001a0002a0016 | a0001c0003a0001c0009a0002c0002others(1): Show | a0001c0003t0002a0001c0009t0002a0002c0002t0002others(5): Show | a0001c0003t0002g0258 a0001c0009t0002g0294 a0002c0002t0002g0236 others(14): Show |
17 | 306 | 0.0556 | -21 | c.117 others(37): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 5/23 | chr12 | TogoVar | |||||||
GOLGA3_chr12_132763914_132833869 | 132821841 | GAGACTCC others(14): Show |
G | intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 305 | 0.0033 | -21 | c.133 others(36): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 2/23 | chr12 | TogoVar | |||||||
GOLGA6A_chr15_74064857_74087550 | 74074580 | TAGCCTCT others(14): Show |
T | disruptive_inframe_deletion | MODERATE | HG02559.hp2 | a0016 | a0016c0031 | a0016c0031t0001 | a0016c0031t0001g0117 | 1 | 136 | 0.0074 | -21 | c.124 others(30): Show |
p.Trp others(13): Show |
GOLGA6A | ENSG00000159289.6 | transcript | ENST00000290438.3 | protein_coding | 11/18 | 1309/3176 | 1248/2082 | 416/693 | chr15 | TogoVar | |||
GOLGA6L10_chr15_82334993_82354475 | 82344984 | CAGCCTCT others(14): Show |
C | disruptive_inframe_deletion | MODERATE | NA18522.hp2 | a0031 | a0031c0020 | a0031c0020t0039 | a0031c0020t0039g0045 | 1 | 297 | 0.0034 | -21 | c.855 others(28): Show |
p.Cys others(13): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 975/4452 | 855/1569 | 285/522 | chr15 | TogoVar | |||
GOLGA6L10_chr15_82334993_82354475 | 82345004 | ATAGCCTC others(14): Show |
A | conservative_inframe_deletion | MODERATE | HG00741.hp1 HG01074.hp2 |
a0004 | a0004c0004 | a0004c0004t0004 | a0004c0004t0004g0004 | 2 | 95 | 0.0211 | -21 | c.835 others(28): Show |
p.Arg others(13): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 955/4452 | 835/1569 | 279/522 | chr15 | TogoVar | |||
GOLGA6L10_chr15_82334993_82354475 | 82345047 | TAGCCTCT others(14): Show |
T | disruptive_inframe_deletion | MODERATE | NA18972.hp2 | a0034 | a0034c0035 | a0034c0035t0037 | a0034c0035t0037g0054 | 1 | 299 | 0.0033 | -21 | c.792 others(28): Show |
p.Cys others(13): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 912/4452 | 792/1569 | 264/522 | chr15 | TogoVar | |||
GOLGA6L10_chr15_82334993_82354475 | 82345131 | TAGCCTCT others(14): Show |
T | disruptive_inframe_deletion | MODERATE | NA18522.hp2 | a0031 | a0031c0020 | a0031c0020t0039 | a0031c0020t0039g0045 | 1 | 296 | 0.0034 | -21 | c.708 others(28): Show |
p.Cys others(13): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 828/4452 | 708/1569 | 236/522 | chr15 | TogoVar | |||
GOLGA6L1_chr15_23122066_23141822 | 23129575 | TTCCTGCT others(14): Show |
T | disruptive_inframe_deletion | MODERATE | HG03239.hp2 | a0038 | a0038c0035 | a0038c0035t0001 | a0038c0035t0001g0077 | 1 | 204 | 0.0049 | -21 | c.185 others(30): Show |
p.Glu others(13): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 8/9 | 1968/3822 | 1857/2007 | 619/668 | chr15 | TogoVar | |||
GOLGA6L1_chr15_23122066_23141822 | 23129668 | CCATATCT others(14): Show |
C | disruptive_inframe_deletion | MODERATE | HG02970.hp2 | a0035 | a0035c0039 | a0035c0039t0003 | a0035c0039t0003g0052 | 1 | 203 | 0.0049 | -21 | c.176 others(30): Show |
p.Glu others(13): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 8/9 | 1875/3822 | 1764/2007 | 588/668 | chr15 | TogoVar | |||
GOLGA6L1_chr15_23122066_23141822 | 23129689 | TCGTATCT others(14): Show |
T | disruptive_inframe_deletion | MODERATE | HG02135.hp2 | a0001 | a0001c0034 | a0001c0034t0001 | a0001c0034t0001g0064 | 1 | 197 | 0.0051 | -21 | c.174 others(30): Show |
p.Glu others(13): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 8/9 | 1854/3822 | 1743/2007 | 581/668 | chr15 | TogoVar | |||
GOLGA6L1_chr15_23122066_23141822 | 23129819 | ATCTCCTC others(14): Show |
A | disruptive_inframe_deletion | MODERATE | HG00621.hp2 | a0025 | a0025c0044 | a0025c0044t0003 | a0025c0044t0003g0087 | 1 | 202 | 0.0050 | -21 | c.161 others(30): Show |
p.Lys others(13): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 8/9 | 1724/3822 | 1613/2007 | 538/668 | chr15 | TogoVar | |||
GOLGA6L22_chr15_22453903_22474226 | 22465822 | GGCAGGAG others(14): Show |
G | disruptive_inframe_deletion | MODERATE | HG00738.hp1 HG01891.hp2 HG03453.hp2 |
a0003a0007 | a0003c0003a0007c0015 | a0003c0003t0003a0003c0003t0004a0007c0015t0009 | a0003c0003t0003g0029 a0003c0003t0004g0033 a0007c0015t0009g0032 |
3 | 224 | 0.0134 | -21 | c.159 others(30): Show |
p.Lys others(13): Show |
GOLGA6L22 | ENSG00000277865.6 | transcript | ENST00000622895.2 | protein_coding | 8/9 | 1686/4401 | 1595/2565 | 532/854 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
GOLGA6L22_chr15_22453903_22474226 | 22465939 | AGCAGGAG others(14): Show |
A | disruptive_inframe_deletion | MODERATE | HG00408.hp1 HG00558.hp1 HG00558.hp2 others(48): Show |
a0001a0003 | a0001c0001a0001c0007a0003c0005others(1): Show | a0001c0001t0001a0001c0007t0001a0003c0005t0004others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0017 others(7): Show |
51 | 224 | 0.2277 | -21 | c.168 others(30): Show |
p.Asp others(13): Show |
GOLGA6L22 | ENSG00000277865.6 | transcript | ENST00000622895.2 | protein_coding | 8/9 | 1780/4401 | 1689/2565 | 563/854 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
GOLGA6L22_chr15_22453903_22474226 | 22466082 | AGGGAGCA others(14): Show |
A | disruptive_inframe_deletion | MODERATE | HG02155.hp2 HG02886.hp1 HG02886.hp2 others(1): Show |
a0004a0005 | a0004c0004a0005c0006 | a0004c0004t0003a0005c0006t0003a0005c0006t0004 | a0004c0004t0003g0034 a0005c0006t0003g0031 a0005c0006t0003g0037 others(1): Show |
4 | 223 | 0.0179 | -21 | c.186 others(30): Show |
p.Glu others(13): Show |
GOLGA6L22 | ENSG00000277865.6 | transcript | ENST00000622895.2 | protein_coding | 8/9 | 1957/4401 | 1866/2565 | 622/854 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
GOLGA6L22_chr15_22453903_22474226 | 22466616 | AAGAAGAT others(14): Show |
A | disruptive_inframe_deletion | MODERATE | HG02886.hp1 HG03453.hp2 |
a0003a0005 | a0003c0003a0005c0006 | a0003c0003t0004a0005c0006t0004 | a0003c0003t0004g0033 a0005c0006t0004g0030 |
2 | 222 | 0.0090 | -21 | c.236 others(30): Show |
p.Glu others(13): Show |
GOLGA6L22 | ENSG00000277865.6 | transcript | ENST00000622895.2 | protein_coding | 8/9 | 2458/4401 | 2367/2565 | 789/854 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
GOLGA6L24_chr15_28342851_28363084 | 28350524 | TTCCTGCT others(14): Show |
T | disruptive_inframe_deletion | MODERATE | NA18950.hp2 NA18954.hp2 |
a0012a0013 | a0012c0026a0013c0027 | a0012c0026t0007a0013c0027t0007 | a0012c0026t0007g0082 a0013c0027t0007g0083 |
2 | 200 | 0.0100 | -21 | c.220 others(30): Show |
p.Gly others(13): Show |
GOLGA6L24 | ENSG00000237850.8 | transcript | ENST00000568624.2 | protein_coding | 8/9 | 2286/4304 | 2205/2499 | 735/832 | chr15 | TogoVar | |||
GOLGA6L26_chr15_23319535_23339196 | 23327133 | CCATATCT others(14): Show |
C | disruptive_inframe_deletion | MODERATE | HG01517.hp1 | a0010 | a0010c0034 | a0010c0034t0002 | a0010c0034t0002g0045 | 1 | 182 | 0.0055 | -21 | c.170 others(30): Show |
p.Glu others(13): Show |
GOLGA6L26 | ENSG00000273756.5 | transcript | ENST00000618455.5 | protein_coding | 8/9 | 1788/3731 | 1707/1950 | 569/649 | chr15 | TogoVar | |||
GOLGA6L26_chr15_23319535_23339196 | 23327298 | TCGTATCT others(14): Show |
T | disruptive_inframe_deletion | MODERATE | HG00408.hp1 HG01109.hp1 HG01169.hp2 others(34): Show |
a0004a0007a0009others(14): Show | a0004c0004a0004c0042a0007c0009others(20): Show | a0004c0004t0005a0004c0042t0005a0007c0009t0002others(23): Show | a0004c0004t0005g0008 a0004c0004t0005g0015 a0004c0004t0005g0065 others(29): Show |
37 | 87 | 0.4253 | -21 | c.154 others(30): Show |
p.Glu others(13): Show |
GOLGA6L26 | ENSG00000273756.5 | transcript | ENST00000618455.5 | protein_coding | 8/9 | 1623/3731 | 1542/1950 | 514/649 | chr15 | TogoVar | |||
GOLGA6L2_chr15_23434038_23452243 | 23441523 | TCCGCATC others(14): Show |
T | conservative_inframe_deletion | MODERATE | HG02258.hp2 HG02615.hp1 HG02717.hp2 others(15): Show |
a0005a0012 | a0005c0006a0005c0008a0005c0031others(1): Show | a0005c0006t0007a0005c0006t0013a0005c0006t0021others(6): Show | a0005c0006t0007g0017 a0005c0006t0013g0039 a0005c0006t0021g0116 others(8): Show |
18 | 394 | 0.0457 | -21 | c.931 others(28): Show |
p.Glu others(13): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 1013/3499 | 931/2730 | 311/909 | chr15 | TogoVar | |||
GOLGA6L4_chr15_84230773_84250358 | 84240569 | CGAGGTGG others(14): Show |
C | disruptive_inframe_deletion | MODERATE | HG03927.hp1 | a0035 | a0035c0059 | a0035c0059t0001 | a0035c0059t0001g0069 | 1 | 250 | 0.0040 | -21 | c.123 others(30): Show |
p.Asp others(13): Show |
GOLGA6L4 | ENSG00000184206.13 | transcript | ENST00000510439.7 | protein_coding | 6/9 | 1298/4553 | 1236/1725 | 412/574 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
GOLGA6L6_chr15_20526856_20546800 | 20534590 | ATCTCCTC others(14): Show |
A | disruptive_inframe_deletion | MODERATE | HG02486.hp2 | a0023 | a0023c0046 | a0023c0046t0002 | a0023c0046t0002g0099 | 1 | 211 | 0.0047 | -21 | c.182 others(30): Show |
p.Lys others(13): Show |
GOLGA6L6 | ENSG00000277322.1 | transcript | ENST00000619213.1 | protein_coding | 8/9 | 1934/4013 | 1823/2175 | 608/724 | chr15 | TogoVar | |||
GOLGA6L7_chr15_28836832_28853644 | 28838788 | AATTCTGG others(14): Show |
A | downstream_gene_variant | MODIFIER | NA19060.hp2 | a0025 | a0025c0023 | a0025c0023t0002 | a0025c0023t0002g0067 | 1 | 420 | 0.0024 | -21 | c.*34 others(32): Show |
GOLGA6L7 | ENSG00000261649.7 | transcript | ENST00000567390.7 | protein_coding | 3043 | chr15 | TogoVar | |||||||
GOLGA6L7_chr15_28836832_28853644 | 28842669 | CCATCTGC others(14): Show |
C | conservative_inframe_deletion | MODERATE | NA20905.hp2 | a0026 | a0026c0024 | a0026c0024t0002 | a0026c0024t0002g0069 | 1 | 420 | 0.0024 | -21 | c.141 others(30): Show |
p.Arg others(13): Show |
GOLGA6L7 | ENSG00000261649.7 | transcript | ENST00000567390.7 | protein_coding | 9/9 | 1529/2367 | 1414/1869 | 472/622 | chr15 | TogoVar | |||
GOLGA6L7_chr15_28836832_28853644 | 28842750 | CCCCCATC others(14): Show |
C | conservative_inframe_deletion | MODERATE | HG02109.hp1 HG02486.hp2 HG02622.hp1 others(3): Show |
a0014a0016a0021others(1): Show | a0014c0015a0016c0034a0016c0035others(2): Show | a0014c0015t0002a0016c0034t0002a0016c0035t0002others(2): Show | a0014c0015t0002g0057 a0014c0015t0002g0058 a0016c0034t0002g0084 others(3): Show |
6 | 420 | 0.0143 | -21 | c.133 others(30): Show |
p.Lys others(13): Show |
GOLGA6L7 | ENSG00000261649.7 | transcript | ENST00000567390.7 | protein_coding | 9/9 | 1448/2367 | 1333/1869 | 445/622 | chr15 | TogoVar | |||
GOLGA6L7_chr15_28836832_28853644 | 28843098 | CCCCCATC others(14): Show |
C | conservative_inframe_deletion | MODERATE | HG00099.hp1 HG00280.hp2 HG00408.hp2 others(112): Show |
a0001a0002a0003others(6): Show | a0001c0008a0002c0002a0002c0025others(10): Show | a0001c0008t0001a0001c0008t0003a0002c0002t0001others(22): Show | a0001c0008t0001g0039 a0001c0008t0003g0027 a0001c0008t0003g0101 others(40): Show |
115 | 419 | 0.2745 | -21 | c.985 others(29): Show |
p.Lys others(13): Show |
GOLGA6L7 | ENSG00000261649.7 | transcript | ENST00000567390.7 | protein_coding | 9/9 | 1100/2367 | 985/1869 | 329/622 | chr15 | TogoVar | |||
GOLGA6L7_chr15_28836832_28853644 | 28843122 | CCATCTGC others(14): Show |
C | conservative_inframe_deletion | MODERATE | HG00735.hp1 NA18978.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 410 | 0.0049 | -21 | c.961 others(28): Show |
p.Arg others(13): Show |
GOLGA6L7 | ENSG00000261649.7 | transcript | ENST00000567390.7 | protein_coding | 9/9 | 1076/2367 | 961/1869 | 321/622 | chr15 | TogoVar | |||
GOLGA6L9_chr15_82424816_82444153 | 82434225 | CGTGAACA others(14): Show |
C | disruptive_inframe_deletion | MODERATE | HG01496.hp2 | a0021 | a0021c0031 | a0021c0031t0001 | a0021c0031t0001g0002 | 1 | 454 | 0.0022 | -21 | c.666 others(28): Show |
p.Cys others(13): Show |
GOLGA6L9 | ENSG00000197978.10 | transcript | ENST00000618348.2 | protein_coding | 6/9 | 930/4305 | 666/1299 | 222/432 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
GOLGA8F_chr15_28373664_28397021 | 28385289 | GAGGAGAG others(14): Show |
G | disruptive_inframe_deletion | MODERATE | HG00741.hp1 HG01361.hp1 HG01361.hp2 others(10): Show |
a0004 | a0004c0005a0004c0032a0004c0033others(1): Show | a0004c0005t0001a0004c0005t0002a0004c0005t0005others(6): Show | a0004c0005t0001g0027 a0004c0005t0002g0027 a0004c0005t0005g0005 others(9): Show |
13 | 269 | 0.0483 | -21 | c.105 others(30): Show |
p.Gln others(13): Show |
GOLGA8F | ENSG00000153684.16 | transcript | ENST00000526619.7 | protein_coding | 12/19 | 1153/4967 | 1055/1911 | 352/636 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
GOLGA8G_chr15_28514611_28537971 | 28526313 | GGAAGCCT others(14): Show |
G | disruptive_inframe_deletion | MODERATE | HG02109.hp2 | a0008 | a0008c0013 | a0008c0013t0001 | a0008c0013t0001g0026 | 1 | 100 | 0.0100 | -21 | c.109 others(30): Show |
p.Gln others(13): Show |
GOLGA8G | ENSG00000183629.14 | transcript | ENST00000525590.3 | protein_coding | 12/19 | 1173/4971 | 1091/1947 | 364/648 | chr15 | TogoVar | |||
GOLGA8J_chr15_30077955_30101690 | 30091288 | ACCTATCA others(14): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG01261.hp1 HG02258.hp1 others(8): Show |
a0010a0016a0036others(3): Show | a0010c0009a0016c0021a0036c0051others(3): Show | a0010c0009t0002a0016c0021t0018a0036c0051t0021others(3): Show | a0010c0009t0002g0016 a0010c0009t0002g0165 a0016c0021t0018g0166 others(5): Show |
11 | 344 | 0.0320 | -21 | c.120 others(38): Show |
GOLGA8J | ENSG00000179938.13 | transcript | ENST00000567927.2 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GOLGA8N_chr15_32588456_32612237 | 32601766 | ACCTATCA others(14): Show |
A | intron_variant | MODIFIER | HG02647.hp2 | a0043 | a0043c0059 | a0043c0059t0005 | a0043c0059t0005g0065 | 1 | 286 | 0.0035 | -21 | c.120 others(38): Show |
GOLGA8N | ENSG00000232653.9 | transcript | ENST00000448387.7 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GOLGA8O_chr15_32436914_32460634 | 32447285 | AGCTGCTG others(14): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG02055.hp1 HG02647.hp2 others(1): Show |
a0004 | a0004c0014a0004c0017 | a0004c0014t0018a0004c0017t0004 | a0004c0014t0018g0021 a0004c0014t0018g0142 a0004c0017t0004g0100 |
4 | 214 | 0.0187 | -21 | c.120 others(38): Show |
GOLGA8O | ENSG00000206127.11 | transcript | ENST00000509311.7 | protein_coding | 13/18 | chr15 | TogoVar | |||||||
GOLGA8Q_chr15_30547050_30570684 | 30560282 | CGTGGCCA others(14): Show |
C | intron_variant | MODIFIER | HG02723.hp2 HG02809.hp1 |
a0008 | a0008c0010 | a0008c0010t0006 | a0008c0010t0006g0024 a0008c0010t0006g0025 |
2 | 126 | 0.0159 | -21 | c.120 others(38): Show |
GOLGA8Q | ENSG00000178115.12 | transcript | ENST00000562783.2 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GOLGA8S_chr15_23349748_23373341 | 23361149 | CTTTTCTT others(14): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00621.hp1 HG00639.hp1 others(6): Show |
a0001a0009a0042others(1): Show | a0001c0056a0009c0016a0009c0032others(2): Show | a0001c0056t0001a0009c0016t0001a0009c0032t0001others(2): Show | a0001c0056t0001g0132 a0009c0016t0001g0033 a0009c0016t0001g0110 others(4): Show |
9 | 428 | 0.0210 | -21 | c.914 others(34): Show |
GOLGA8S | ENSG00000261739.3 | transcript | ENST00000562295.3 | protein_coding | 11/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GOLM2_chr15_44283719_44420758 | 44288520 | GAGAGAGC others(14): Show |
G | upstream_gene_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 147 | 0.0068 | -21 | c.-50 others(30): Show |
GOLM2 | ENSG00000166734.20 | transcript | ENST00000299957.11 | protein_coding | 198 | chr15 | TogoVar | |||||||
GOLPH3_chr5_32119716_32179319 | 32155956 | CAAAAAAA others(14): Show |
C | intron_variant | MODIFIER | HG00733.hp2 HG01256.hp1 HG02273.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 |
3 | 46 | 0.0652 | -21 | c.226 others(40): Show |
GOLPH3 | ENSG00000113384.14 | transcript | ENST00000265070.7 | protein_coding | 1/3 | chr5 | TogoVar | |||||||
GOT1L1_chr8_37929281_37945124 | 37939428 | AAAAATAT others(14): Show |
A | intron_variant | MODIFIER | HG02970.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0040 | 1 | 431 | 0.0023 | -21 | c.115 others(36): Show |
GOT1L1 | ENSG00000169154.7 | transcript | ENST00000307599.5 | protein_coding | 1/8 | chr8 | TogoVar |