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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GOLGA6L1_chr15_23122066_23141822 | 23136585 | AGGATGGG others(65): Show |
A | disruptive_inframe_deletion | MODERATE | HG00741.hp1 HG02273.hp2 HG02622.hp1 others(3): Show |
a0023a0064a0065others(2): Show | a0023c0021a0064c0057a0065c0056others(2): Show | a0023c0021t0004a0023c0021t0023a0064c0057t0024others(3): Show | a0023c0021t0004g0100a0023c0021t0023g0098a0064c0057t0024g0101others(3): Show | 6 | 204 | 0.0294 | -72 | c.75_ others(78): Show |
p.His others(11): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 1/9 | 237/3822 | 75/2007 | 25/668 | chr15 | TogoVar | ||
GOLGA6L1_chr15_23122066_23141822 | 23136660 | ATGGGTAG others(47): Show |
A | disruptive_inframe_deletion | MODERATE | HG00408.hp2 HG00438.hp1 HG00544.hp1 others(73): Show |
a0001a0005a0014others(3): Show | a0001c0001a0005c0005a0014c0023others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0012others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(33): Show | 76 | 204 | 0.3726 | -54 | c.18_ others(59): Show |
p.Gln others(10): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 1/9 | 162/3822 | 18/2007 | 6/668 | chr15 | TogoVar | ||
GOLGA6L1_chr15_23122066_23141822 | 23136678 | ATGGGTAG others(29): Show |
A | disruptive_inframe_deletion | MODERATE | HG02451.hp1 HG02486.hp1 HG03471.hp2 others(2): Show |
a0006a0071 | a0006c0006a0071c0073 | a0006c0006t0001a0071c0073t0001 | a0006c0006t0001g0014a0006c0006t0001g0134a0071c0073t0001g0135 | 5 | 204 | 0.0245 | -36 | c.18_ others(41): Show |
p.Gln others(10): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 1/9 | 144/3822 | 18/2007 | 6/668 | chr15 | TogoVar | ||
GOLGA6L1_chr15_23122066_23141822 | 23136696 | ATGGGTAG others(11): Show |
A | disruptive_inframe_deletion | MODERATE | NA19088.hp2 | a0026 | a0026c0065 | a0026c0065t0001 | a0026c0065t0001g0109 | 1 | 204 | 0.0049 | -18 | c.18_ others(23): Show |
p.Gln others(10): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 1/9 | 126/3822 | 18/2007 | 6/668 | chr15 | TogoVar | ||
GOLGA6L22_chr15_22453903_22474226 | 22459006 | CCCCAACC others(29): Show |
C | disruptive_inframe_deletion | MODERATE | HG00738.hp1 | a0016 | a0016c0068 | a0016c0068t0011 | a0016c0068t0011g0056 | 1 | 226 | 0.0044 | -36 | c.18_ others(41): Show |
p.Gln others(10): Show |
GOLGA6L22 | ENSG00000277865.6 | transcript | ENST00000622895.2 | protein_coding | 1/9 | 109/4401 | 18/2565 | 6/854 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
GOLGA6L22_chr15_22453903_22474226 | 22459011 | ACCCCACC others(11): Show |
A | disruptive_inframe_deletion | MODERATE | HG00738.hp2 HG01258.hp1 HG02027.hp1 others(3): Show |
a0000a0041a0042others(3): Show | a0000c0058a0041c0054a0042c0055others(3): Show | a0000c0058t0001a0041c0054t0003a0042c0055t0003others(3): Show | a0000c0058t0001g0002a0041c0054t0003g0058a0042c0055t0003g0059others(3): Show | 6 | 226 | 0.0266 | -18 | c.111 others(25): Show |
p.His others(11): Show |
GOLGA6L22 | ENSG00000277865.6 | transcript | ENST00000622895.2 | protein_coding | 1/9 | 202/4401 | 111/2565 | 37/854 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
GOLGA6L22_chr15_22453903_22474226 | 22459011 | ACCCCACC others(29): Show |
A | disruptive_inframe_deletion | MODERATE | HG01891.hp1 HG01891.hp2 HG02451.hp1 others(7): Show |
a0000a0010a0015others(4): Show | a0000c0066a0010c0015a0015c0023others(4): Show | a0000c0066t0003a0010c0015t0004a0015c0023t0003others(4): Show | a0000c0066t0003g0055a0010c0015t0004g0015a0010c0015t0004g0060others(5): Show | 10 | 226 | 0.0443 | -36 | c.93_ others(42): Show |
p.His others(11): Show |
GOLGA6L22 | ENSG00000277865.6 | transcript | ENST00000622895.2 | protein_coding | 1/9 | 184/4401 | 93/2565 | 31/854 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
GOLGA6L22_chr15_22453903_22474226 | 22459011 | ACCCCACC others(47): Show |
A | disruptive_inframe_deletion | MODERATE | HG01361.hp2 NA19007.hp1 NA19088.hp1 |
a0000a0050 | a0000c0024a0050c0064 | a0000c0024t0001a0050c0064t0002 | a0000c0024t0001g0002a0000c0024t0001g0038a0050c0064t0002g0001 | 3 | 226 | 0.0133 | -54 | c.75_ others(60): Show |
p.His others(11): Show |
GOLGA6L22 | ENSG00000277865.6 | transcript | ENST00000622895.2 | protein_coding | 1/9 | 166/4401 | 75/2565 | 25/854 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
GOLGA6L22_chr15_22453903_22474226 | 22465239 | CAGGAGGA others(35): Show |
C | disruptive_inframe_deletion | MODERATE | HG01891.hp1 HG02129.hp2 HG02970.hp2 |
a0015a0020 | a0015c0023a0020c0035 | a0015c0023t0003a0020c0035t0001 | a0015c0023t0003g0010a0020c0035t0001g0005 | 3 | 226 | 0.0133 | -42 | c.103 others(51): Show |
p.Met others(13): Show |
GOLGA6L22 | ENSG00000277865.6 | transcript | ENST00000622895.2 | protein_coding | 8/9 | 1126/4401 | 1035/2565 | 345/854 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
GOLGA6L22_chr15_22453903_22474226 | 22465822 | GGCAGGAG others(14): Show |
G | disruptive_inframe_deletion | MODERATE | HG00738.hp1 HG01891.hp2 HG03453.hp2 |
a0016a0048a0049 | a0016c0068a0048c0062a0049c0063 | a0016c0068t0011a0048c0062t0004a0049c0063t0003 | a0016c0068t0011g0056a0048c0062t0004g0057a0049c0063t0003g0053 | 3 | 226 | 0.0133 | -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 |
a0003a0004a0010others(8): Show | a0003c0003a0003c0020a0004c0004others(9): Show | a0003c0003t0001a0003c0003t0005a0003c0020t0001others(10): Show | a0003c0003t0001g0001a0003c0003t0001g0003a0003c0003t0001g0005others(25): Show | 51 | 226 | 0.2257 | -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 |
a0000a0041a0051others(1): Show | a0000c0066a0041c0054a0051c0065others(1): Show | a0000c0066t0003a0041c0054t0003a0051c0065t0004others(1): Show | a0000c0066t0003g0055a0041c0054t0003g0058a0051c0065t0004g0054others(1): Show | 4 | 226 | 0.0177 | -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 | 22466105 | GGAGCAGG others(35): Show |
G | disruptive_inframe_deletion | MODERATE | HG00738.hp1 | a0016 | a0016c0068 | a0016c0068t0011 | a0016c0068t0011g0056 | 1 | 226 | 0.0044 | -42 | c.185 others(51): Show |
p.Lys others(13): Show |
GOLGA6L22 | ENSG00000277865.6 | transcript | ENST00000622895.2 | protein_coding | 8/9 | 1950/4401 | 1859/2565 | 620/854 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
GOLGA6L22_chr15_22453903_22474226 | 22466124 | CGGGAGCA others(179): Show |
C | disruptive_inframe_deletion | MODERATE | NA18973.hp2 | a0000 | a0000c0028 | a0000c0028t0002 | a0000c0028t0002g0006 | 1 | 226 | 0.0044 | -186 | c.193 others(9): Show |
p.Glu others(13): Show |
GOLGA6L22 | ENSG00000277865.6 | transcript | ENST00000622895.2 | protein_coding | 8/9 | 2029/4401 | 1938/2565 | 646/854 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
GOLGA6L22_chr15_22453903_22474226 | 22466124 | CGGGAGCA others(242): Show |
C | disruptive_inframe_deletion | MODERATE | NA19002.hp1 | a0032 | a0032c0051 | a0032c0051t0001 | a0032c0051t0001g0017 | 1 | 226 | 0.0044 | -249 | c.188 others(9): Show |
p.Arg others(13): Show |
GOLGA6L22 | ENSG00000277865.6 | transcript | ENST00000622895.2 | protein_coding | 8/9 | 1975/4401 | 1884/2565 | 628/854 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
GOLGA6L22_chr15_22453903_22474226 | 22466133 | GAGGAGAA others(137): Show |
G | disruptive_inframe_deletion | MODERATE | NA19003.hp1 | a0033 | a0033c0045 | a0033c0045t0001 | a0033c0045t0001g0001 | 1 | 226 | 0.0044 | -144 | c.190 others(9): Show |
p.Met others(13): Show |
GOLGA6L22 | ENSG00000277865.6 | transcript | ENST00000622895.2 | protein_coding | 8/9 | 1992/4401 | 1901/2565 | 634/854 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
GOLGA6L22_chr15_22453903_22474226 | 22466541 | GGGGAGCA others(140): Show |
G | disruptive_inframe_deletion | MODERATE | HG00673.hp2 HG02027.hp1 HG02040.hp1 others(9): Show |
a0000 | a0000c0008a0000c0013a0000c0024others(1): Show | a0000c0008t0001a0000c0013t0001a0000c0024t0001others(1): Show | a0000c0008t0001g0002a0000c0008t0001g0012a0000c0008t0001g0018others(5): Show | 12 | 226 | 0.0531 | -147 | c.229 others(9): Show |
p.Glu others(13): Show |
GOLGA6L22 | ENSG00000277865.6 | transcript | ENST00000622895.2 | protein_coding | 8/9 | 2383/4401 | 2292/2565 | 764/854 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
GOLGA6L22_chr15_22453903_22474226 | 22466543 | GGAGCAGG others(161): Show |
G | disruptive_inframe_deletion | MODERATE | HG02132.hp1 NA18942.hp1 |
a0035a0037 | a0035c0047a0037c0041 | a0035c0047t0001a0037c0041t0002 | a0035c0047t0001g0028a0037c0041t0002g0001 | 2 | 226 | 0.0089 | -168 | c.234 others(9): Show |
p.Ile others(13): Show |
GOLGA6L22 | ENSG00000277865.6 | transcript | ENST00000622895.2 | protein_coding | 8/9 | 2434/4401 | 2343/2565 | 781/854 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
GOLGA6L22_chr15_22453903_22474226 | 22466616 | AAGAAGAT others(14): Show |
A | disruptive_inframe_deletion | MODERATE | HG02886.hp1 HG03453.hp2 |
a0048a0051 | a0048c0062a0051c0065 | a0048c0062t0004a0051c0065t0004 | a0048c0062t0004g0057a0051c0065t0004g0054 | 2 | 226 | 0.0089 | -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 |
a0029a0030 | a0029c0036a0030c0038 | a0029c0036t0007a0030c0038t0007 | a0029c0036t0007g0064a0030c0038t0007g0066 | 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 | ||
GOLGA6L24_chr15_28342851_28363084 | 28350975 | ATCTTCTC others(11): Show |
A | disruptive_inframe_deletion | MODERATE | NA18950.hp2 NA18954.hp2 NA19001.hp2 |
a0029a0030a0031 | a0029c0036a0030c0038a0031c0037 | a0029c0036t0007a0030c0038t0007a0031c0037t0009 | a0029c0036t0007g0064a0030c0038t0007g0066a0031c0037t0009g0065 | 3 | 200 | 0.0150 | -18 | c.175 others(27): Show |
p.Thr others(13): Show |
GOLGA6L24 | ENSG00000237850.8 | transcript | ENST00000568624.2 | protein_coding | 8/9 | 1835/4304 | 1757/2499 | 586/832 | chr15 | TogoVar | ||
GOLGA6L24_chr15_28342851_28363084 | 28357919 | AGGATGGG others(11): Show |
A | disruptive_inframe_deletion | MODERATE | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(108): Show |
a0001a0003a0006others(11): Show | a0001c0001a0001c0019a0003c0003others(16): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(20): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0020others(51): Show | 111 | 200 | 0.5550 | -18 | c.87_ others(24): Show |
p.His others(11): Show |
GOLGA6L24 | ENSG00000237850.8 | transcript | ENST00000568624.2 | protein_coding | 1/9 | 165/4304 | 87/2499 | 29/832 | chr15 | TogoVar | ||
GOLGA6L25_chr15_28548568_28568779 | 28553640 | ACCCCACC others(11): Show |
A | disruptive_inframe_deletion | MODERATE | HG03239.hp1 | a0018 | a0018c0014 | a0018c0014t0001 | a0018c0014t0001g0011 | 1 | 98 | 0.0102 | -18 | c.69_ others(23): Show |
p.His others(11): Show |
GOLGA6L25 | ENSG00000227717.5 | transcript | ENST00000620691.5 | protein_coding | 1/9 | 130/4286 | 69/2481 | 23/826 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
GOLGA6L26_chr15_23319535_23339196 | 23327098 | ATCTCCTC others(35): Show |
A | disruptive_inframe_deletion | MODERATE | HG00741.hp1 HG01515.hp1 HG02735.hp1 others(6): Show |
a0004a0032a0034others(2): Show | a0004c0004a0032c0036a0034c0039others(2): Show | a0004c0004t0001a0004c0004t0002a0032c0036t0002others(3): Show | a0004c0004t0001g0044a0004c0004t0002g0010a0004c0004t0002g0045others(5): Show | 9 | 182 | 0.0495 | -42 | c.172 others(51): Show |
p.Lys others(13): Show |
GOLGA6L26 | ENSG00000273756.5 | transcript | ENST00000618455.5 | protein_coding | 8/9 | 1823/3731 | 1721/1950 | 574/649 | chr15 | TogoVar | ||
GOLGA6L26_chr15_23319535_23339196 | 23327133 | CCATATCT others(14): Show |
C | disruptive_inframe_deletion | MODERATE | HG01517.hp1 | a0031 | a0031c0035 | a0031c0035t0002 | a0031c0035t0002g0043 | 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 |
a0003a0007a0008others(19): Show | a0003c0003a0007c0011a0008c0013others(20): Show | a0003c0003t0005a0007c0011t0002a0008c0013t0002others(23): Show | a0003c0003t0005g0013a0003c0003t0005g0062a0003c0003t0005g0063others(31): Show | 37 | 182 | 0.2033 | -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 | ||
GOLGA6L26_chr15_23319535_23339196 | 23327836 | AGCCTCCG others(35): Show |
A | disruptive_inframe_deletion | MODERATE | NA19081.hp1 | a0044 | a0044c0053 | a0044c0053t0002 | a0044c0053t0002g0070 | 1 | 182 | 0.0055 | -42 | c.983 others(50): Show |
p.Gln others(13): Show |
GOLGA6L26 | ENSG00000273756.5 | transcript | ENST00000618455.5 | protein_coding | 8/9 | 1085/3731 | 983/1950 | 328/649 | chr15 | TogoVar | ||
GOLGA6L26_chr15_23319535_23339196 | 23334067 | AGGATGGG others(11): Show |
A | disruptive_inframe_deletion | MODERATE | NA18950.hp1 NA19004.hp1 |
a0021 | a0021c0021 | a0021c0021t0001 | a0021c0021t0001g0020 | 2 | 182 | 0.0110 | -18 | c.51_ others(23): Show |
p.His others(11): Show |
GOLGA6L26 | ENSG00000273756.5 | transcript | ENST00000618455.5 | protein_coding | 1/9 | 129/3731 | 51/1950 | 17/649 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23439857 | GCATCTCC others(11): Show |
G | disruptive_inframe_deletion | MODERATE | NA18939.hp1 | a0001 | a0001c0059 | a0001c0059t0001 | a0001c0059t0001g0075 | 1 | 396 | 0.0025 | -18 | c.260 others(27): Show |
p.Val others(13): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2679/3499 | 2600/2730 | 867/909 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23439898 | ATCT | A | disruptive_inframe_deletion | MODERATE | HG02145.hp1 HG02818.hp1 HG02965.hp2 |
a0000 | a0000c0023a0000c0037 | a0000c0023t0002a0000c0037t0002 | a0000c0023t0002g0041a0000c0037t0002g0120 | 3 | 396 | 0.0076 | -3 | c.257 others(12): Show |
p.Glu others(6): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2638/3499 | 2574/2730 | 858/909 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23440163 | GCTCCTGC others(26): Show |
G | disruptive_inframe_deletion | MODERATE | HG03579.hp1 | a0000 | a0000c0038 | a0000c0038t0002 | a0000c0038t0002g0122 | 1 | 396 | 0.0025 | -33 | c.227 others(42): Show |
p.Glu others(13): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2373/3499 | 2279/2730 | 760/909 | chr15 | TogoVar | ||
GOLGA6L4_chr15_84230773_84250358 | 84240457 | AGGAGAGG others(11): Show |
A | disruptive_inframe_deletion | MODERATE | HG03927.hp1 | a0053 | a0053c0068 | a0053c0068t0001 | a0053c0068t0001g0069 | 1 | 251 | 0.0040 | -18 | c.111 others(27): Show |
p.Arg others(13): Show |
GOLGA6L4 | ENSG00000184206.13 | transcript | ENST00000510439.7 | protein_coding | 6/9 | 1181/4553 | 1119/1725 | 373/574 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
GOLGA6L4_chr15_84230773_84250358 | 84240569 | CGAGGTGG others(14): Show |
C | disruptive_inframe_deletion | MODERATE | HG03927.hp1 | a0053 | a0053c0068 | a0053c0068t0001 | a0053c0068t0001g0069 | 1 | 251 | 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 | |
GOLGA6L4_chr15_84230773_84250358 | 84240659 | TCTGCAGG others(11): Show |
T | disruptive_inframe_deletion | MODERATE | HG03927.hp1 | a0053 | a0053c0068 | a0053c0068t0001 | a0053c0068t0001g0069 | 1 | 251 | 0.0040 | -18 | c.131 others(27): Show |
p.Gln others(13): Show |
GOLGA6L4 | ENSG00000184206.13 | transcript | ENST00000510439.7 | protein_coding | 6/9 | 1372/4553 | 1310/1725 | 437/574 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
GOLGA6L6_chr15_20526856_20546800 | 20534338 | TTCTCCTC others(161): Show |
T | disruptive_inframe_deletion | MODERATE | HG01071.hp2 HG01255.hp1 HG01257.hp2 others(7): Show |
a0010a0014a0015others(1): Show | a0010c0013a0010c0029a0014c0015others(2): Show | a0010c0013t0007a0010c0029t0007a0014c0015t0007others(2): Show | a0010c0013t0007g0012a0010c0029t0007g0053a0014c0015t0007g0013others(3): Show | 10 | 214 | 0.0467 | -168 | c.192 others(9): Show |
p.Thr others(13): Show |
GOLGA6L6 | ENSG00000277322.1 | transcript | ENST00000619213.1 | protein_coding | 8/9 | 2186/4013 | 1928/2175 | 643/724 | chr15 | TogoVar | ||
GOLGA6L6_chr15_20526856_20546800 | 20534590 | ATCTCCTC others(14): Show |
A | disruptive_inframe_deletion | MODERATE | HG02486.hp2 | a0033 | a0033c0050 | a0033c0050t0002 | a0033c0050t0002g0104 | 1 | 214 | 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 | ||
GOLGA6L6_chr15_20526856_20546800 | 20534590 | ATCTCCTC others(35): Show |
A | disruptive_inframe_deletion | MODERATE | HG01884.hp2 | a0034 | a0034c0049 | a0034c0049t0002 | a0034c0049t0002g0101 | 1 | 214 | 0.0047 | -42 | c.180 others(51): Show |
p.Lys others(13): Show |
GOLGA6L6 | ENSG00000277322.1 | transcript | ENST00000619213.1 | protein_coding | 8/9 | 1934/4013 | 1802/2175 | 601/724 | chr15 | TogoVar | ||
GOLGA6L6_chr15_20526856_20546800 | 20534604 | TCGTATCT others(35): Show |
T | disruptive_inframe_deletion | MODERATE | HG01070.hp1 HG01256.hp2 HG01346.hp1 others(11): Show |
a0001a0006a0036others(1): Show | a0001c0005a0006c0016a0036c0040others(1): Show | a0001c0005t0004a0001c0005t0017a0006c0016t0004others(2): Show | a0001c0005t0004g0005a0001c0005t0004g0091a0001c0005t0017g0092others(4): Show | 14 | 214 | 0.0654 | -42 | c.178 others(51): Show |
p.Glu others(13): Show |
GOLGA6L6 | ENSG00000277322.1 | transcript | ENST00000619213.1 | protein_coding | 8/9 | 1920/4013 | 1788/2175 | 596/724 | chr15 | TogoVar | ||
GOLGA6L6_chr15_20526856_20546800 | 20534800 | TTATCCTC others(68): Show |
T | disruptive_inframe_deletion | MODERATE | HG00738.hp2 HG00741.hp2 HG01069.hp2 others(6): Show |
a0007a0020 | a0007c0006a0020c0022 | a0007c0006t0006a0020c0022t0006 | a0007c0006t0006g0009a0007c0006t0006g0016a0007c0006t0006g0029others(1): Show | 9 | 214 | 0.0421 | -75 | c.155 others(84): Show |
p.Met others(13): Show |
GOLGA6L6 | ENSG00000277322.1 | transcript | ENST00000619213.1 | protein_coding | 8/9 | 1724/4013 | 1559/2175 | 520/724 | chr15 | TogoVar | ||
GOLGA6L6_chr15_20526856_20546800 | 20535333 | TATCTTCT others(35): Show |
T | disruptive_inframe_deletion | MODERATE | HG01071.hp2 HG01255.hp1 HG01257.hp2 others(11): Show |
a0010a0013a0014others(3): Show | a0010c0013a0010c0029a0013c0014others(4): Show | a0010c0013t0007a0010c0029t0007a0013c0014t0008others(4): Show | a0010c0013t0007g0012a0010c0029t0007g0053a0013c0014t0008g0023others(6): Show | 14 | 214 | 0.0654 | -42 | c.105 others(51): Show |
p.Met others(13): Show |
GOLGA6L6 | ENSG00000277322.1 | transcript | ENST00000619213.1 | protein_coding | 8/9 | 1191/4013 | 1059/2175 | 353/724 | chr15 | TogoVar | ||
GOLGA6L6_chr15_20526856_20546800 | 20541599 | AGGATGGG others(11): Show |
A | disruptive_inframe_deletion | MODERATE | HG00558.hp2 HG00733.hp1 HG00735.hp1 others(34): Show |
a0004a0006a0007others(6): Show | a0004c0004a0006c0011a0006c0016others(7): Show | a0004c0004t0003a0006c0011t0001a0006c0011t0004others(9): Show | a0004c0004t0003g0004a0004c0004t0003g0027a0004c0004t0003g0111others(19): Show | 37 | 214 | 0.1729 | -18 | c.93_ others(24): Show |
p.His others(11): Show |
GOLGA6L6 | ENSG00000277322.1 | transcript | ENST00000619213.1 | protein_coding | 1/9 | 201/4013 | 93/2175 | 31/724 | chr15 | TogoVar | ||
GOLGA6L7_chr15_28836832_28853644 | 28842910 | TCGCATCT others(56): Show |
T | disruptive_inframe_deletion | MODERATE | HG00408.hp2 HG00673.hp1 HG00741.hp2 others(74): Show |
a0003a0005a0007others(13): Show | a0003c0003a0005c0006a0007c0008others(13): Show | a0003c0003t0002a0003c0003t0005a0003c0003t0006others(19): Show | a0003c0003t0002g0002a0003c0003t0002g0024a0003c0003t0002g0034others(32): Show | 77 | 422 | 0.1825 | -63 | c.113 others(72): Show |
p.Lys others(13): Show |
GOLGA6L7 | ENSG00000261649.7 | transcript | ENST00000567390.7 | protein_coding | 9/9 | 1288/2367 | 1131/1869 | 377/622 | chr15 | TogoVar | ||
GOLGA6L9_chr15_82424816_82444153 | 82434225 | CGTGAACA others(14): Show |
C | disruptive_inframe_deletion | MODERATE | HG01496.hp2 | a0028 | a0028c0031 | a0028c0031t0001 | a0028c0031t0001g0002 | 1 | 455 | 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 |
a0005a0017 | a0005c0005a0005c0032a0005c0034others(1): Show | a0005c0005t0001a0005c0005t0002a0005c0005t0005others(6): Show | a0005c0005t0001g0027a0005c0005t0002g0027a0005c0005t0005g0005others(9): Show | 13 | 270 | 0.0482 | -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 | a0012 | a0012c0022 | a0012c0022t0002 | a0012c0022t0002g0050 | 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 | 30092757 | TGAA | T | disruptive_inframe_deletion | MODERATE | HG01243.hp2 HG01261.hp1 HG03239.hp2 others(1): Show |
a0021a0045a0055 | a0021c0021a0045c0053a0055c0028 | a0021c0021t0018a0045c0053t0019a0055c0028t0019 | a0021c0021t0018g0183a0021c0021t0018g0184a0045c0053t0019g0149others(1): Show | 4 | 345 | 0.0116 | -3 | c.142 others(12): Show |
p.Lys others(6): Show |
GOLGA8J | ENSG00000179938.13 | transcript | ENST00000567927.2 | protein_coding | 16/19 | 1520/5188 | 1422/1899 | 474/632 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
GOLGA8N_chr15_32588456_32612237 | 32602524 | CGGA | C | disruptive_inframe_deletion | MODERATE | HG01070.hp1 HG01071.hp1 HG02145.hp1 others(7): Show |
a0008a0039a0055 | a0008c0008a0039c0059a0055c0041 | a0008c0008t0001a0008c0008t0012a0008c0008t0024others(3): Show | a0008c0008t0001g0005a0008c0008t0012g0005a0008c0008t0024g0005others(3): Show | 10 | 286 | 0.0350 | -3 | c.128 others(12): Show |
p.Gly others(6): Show |
GOLGA8N | ENSG00000232653.9 | transcript | ENST00000448387.7 | protein_coding | 15/19 | 1384/5256 | 1286/1899 | 429/632 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
GOLGA8O_chr15_32436914_32460634 | 32446553 | TCTC | T | disruptive_inframe_deletion | MODERATE | HG00544.hp1 HG00639.hp2 HG01361.hp1 others(10): Show |
a0007a0012a0017others(2): Show | a0007c0007a0012c0014a0017c0017others(2): Show | a0007c0007t0001a0007c0007t0027a0007c0007t0052others(4): Show | a0007c0007t0001g0109a0007c0007t0001g0115a0007c0007t0001g0117others(10): Show | 13 | 214 | 0.0608 | -3 | c.128 others(12): Show |
p.Gly others(6): Show |
GOLGA8O | ENSG00000206127.11 | transcript | ENST00000509311.7 | protein_coding | 15/19 | 1386/5189 | 1286/1899 | 429/632 | chr15 | TogoVar | ||
GOLGA8T_chr15_30130051_30153748 | 30144117 | CGGA | C | disruptive_inframe_deletion | MODERATE | HG02572.hp1 HG02622.hp2 HG03017.hp1 others(2): Show |
a0020a0022a0032 | a0020c0039a0020c0046a0022c0015others(1): Show | a0020c0039t0013a0020c0046t0013a0022c0015t0001others(1): Show | a0020c0039t0013g0149a0020c0046t0013g0148a0022c0015t0001g0102others(2): Show | 5 | 291 | 0.0172 | -3 | c.128 others(12): Show |
p.Gly others(6): Show |
GOLGA8T | ENSG00000261247.2 | transcript | ENST00000569052.2 | protein_coding | 15/19 | 1384/5175 | 1286/1896 | 429/631 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
GOLGB1_chr3_121658201_121754741 | 121677324 | GGAA | G | disruptive_inframe_deletion | MODERATE | HG01433.hp1 HG02257.hp2 HG02717.hp1 others(3): Show |
a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0050a0007c0010t0001g0051a0007c0010t0001g0052others(3): Show | 6 | 370 | 0.0162 | -3 | c.899 others(12): Show |
p.Ser others(7): Show |
GOLGB1 | ENSG00000173230.17 | transcript | ENST00000614479.5 | protein_coding | 16/22 | 9111/11186 | 8997/9795 | 2999/3264 | chr3 | TogoVar |