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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DOP1A_chr6_83062671_83173471 | 83145204 | A | AATATATA others(191): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(71): Show |
a0001a0007a0011others(1): Show | a0001c0001a0007c0010a0011c0008others(1): Show | a0001c0001t0001a0007c0010t0001a0011c0008t0001others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(65): Show |
74 | 124 | 0.5968 | 198 | c.554 others(215): Show |
DOP1A | ENSG00000083097.15 | transcript | ENST00000349129.7 | protein_coding | 24/38 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DOP1A_chr6_83062671_83173471 | 83145204 | A | AATATATA others(191): Show |
intron_variant | MODIFIER | NA18941.hp2 NA18947.hp2 NA18952.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 others(4): Show |
7 | 57 | 0.1228 | 198 | c.554 others(215): Show |
DOP1A | ENSG00000083097.15 | transcript | ENST00000349129.7 | protein_coding | 24/38 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DOP1A_chr6_83062671_83173471 | 83145204 | A | AATATATA others(191): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 | 1 | 51 | 0.0196 | 198 | c.554 others(215): Show |
DOP1A | ENSG00000083097.15 | transcript | ENST00000349129.7 | protein_coding | 24/38 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DPYSL5_chr2_26843132_26955351 | 26851335 | T | TGTTTTTA others(191): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(107): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(26): Show | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0014 others(107): Show |
110 | 207 | 0.5314 | 198 | c.-5+ others(213): Show |
DPYSL5 | ENSG00000157851.17 | transcript | ENST00000288699.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DPYSL5_chr2_26843132_26955351 | 26851335 | T | TGTTTTTA others(191): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG01109.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(13): Show | a0001c0001t0001g0059 a0001c0001t0003g0068 a0001c0001t0008g0067 others(20): Show |
23 | 120 | 0.1917 | 198 | c.-5+ others(213): Show |
DPYSL5 | ENSG00000157851.17 | transcript | ENST00000288699.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EEFSEC_chr3_128148481_128413646 | 128330832 | C | CCCCCCTT others(191): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02451.hp2 HG02559.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0038 a0001c0003t0001g0204 a0001c0003t0001g0207 |
3 | 240 | 0.0125 | 198 | c.787 others(217): Show |
EEFSEC | ENSG00000132394.11 | transcript | ENST00000254730.11 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ELL_chr19_18437663_18527070 | 18442176 | C | CCACACCC others(191): Show |
downstream_gene_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0073 | 1 | 2 | 0.5000 | 198 | c.*25 others(209): Show |
ELL | ENSG00000105656.13 | transcript | ENST00000262809.9 | protein_coding | 486 | chr19 | TogoVar | |||||||
EML1_chr14_99788413_99947060 | 99928218 | G | GTGGTGGT others(191): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0190 | 1 | 145 | 0.0069 | 198 | c.190 others(217): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
EML5_chr14_88607431_88797953 | 88709381 | A | ATATAAAG others(191): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02723.hp1 HG03453.hp2 |
a0003 | a0003c0005 | a0003c0005t0015 | a0003c0005t0015g0013 a0003c0005t0015g0014 a0003c0005t0015g0015 |
3 | 330 | 0.0091 | 198 | c.165 others(217): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 10/43 | chr14 | TogoVar | |||||||
ENOX1_chr13_43208130_43791972 | 43616103 | G | GATAGATA others(191): Show |
intron_variant | MODIFIER | HG01975.hp2 HG02273.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0131 a0001c0001t0010g0129 |
2 | 94 | 0.0213 | 198 | c.-21 others(219): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 2/16 | chr13 | TogoVar | |||||||
ENOX1_chr13_43208130_43791972 | 43616103 | G | GATAGATA others(191): Show |
intron_variant | MODIFIER | NA19056.hp1 NA19081.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0006 | a0001c0001t0005g0154 a0001c0002t0006g0151 |
2 | 94 | 0.0213 | 198 | c.-21 others(219): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 2/16 | chr13 | TogoVar | |||||||
ENOX1_chr13_43208130_43791972 | 43616103 | G | GATAGATA others(191): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01261.hp1 HG01943.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0008others(2): Show | a0001c0001t0002g0130 a0001c0001t0005g0152 a0001c0001t0005g0185 others(5): Show |
8 | 100 | 0.0800 | 198 | c.-21 others(219): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 2/16 | chr13 | TogoVar | |||||||
ERC1_chr12_986223_1500931 | 1122642 | T | TATCTGTG others(191): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01175.hp1 HG01243.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0007 a0001c0001t0003g0009 a0001c0001t0004g0005 others(10): Show |
13 | 54 | 0.2407 | 198 | c.156 others(217): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERFL_chr19_41902704_41933449 | 41914857 | C | CTCCACCA others(191): Show |
intron_variant | MODIFIER | NA18940.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 138 | 0.0072 | 198 | c.-13 others(215): Show |
ERFL | ENSG00000268041.3 | transcript | ENST00000597630.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
ERFL_chr19_41902704_41933449 | 41914857 | C | CTCCACCA others(191): Show |
intron_variant | MODIFIER | NA18945.hp2 NA18965.hp1 NA19088.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 a0001c0001t0001g0047 a0001c0001t0001g0048 |
3 | 140 | 0.0214 | 198 | c.-13 others(215): Show |
ERFL | ENSG00000268041.3 | transcript | ENST00000597630.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
ESPNL_chr2_238095340_238138287 | 238118110 | G | GGATGGAG others(191): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0002 | a0002c0020 | a0002c0020t0002 | a0002c0020t0002g0308 | 1 | 406 | 0.0025 | 198 | c.987 others(215): Show |
ESPNL | ENSG00000144488.15 | transcript | ENST00000343063.8 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EXOC2_chr6_480154_698139 | 528886 | A | AATAAATC others(191): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02559.hp1 HG02818.hp2 others(8): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0002a0001c0002t0002a0001c0004t0002others(4): Show | a0001c0001t0002g0227 a0001c0001t0002g0229 a0001c0002t0002g0071 others(8): Show |
11 | 129 | 0.0853 | 198 | c.238 others(217): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | |||||||
FAF2_chr5_176443385_176515074 | 176451819 | T | TATATACA others(191): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 268 | 0.0037 | 198 | c.63+ others(213): Show |
FAF2 | ENSG00000113194.13 | transcript | ENST00000261942.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
FAF2_chr5_176443385_176515074 | 176451821 | T | TATACATA others(191): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 360 | 0.0028 | 198 | c.63+ others(213): Show |
FAF2 | ENSG00000113194.13 | transcript | ENST00000261942.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
FBRSL1_chr12_132485151_132590188 | 132540994 | A | AAGGCACG others(191): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0010 | 1 | 346 | 0.0029 | 198 | c.616 others(215): Show |
FBRSL1 | ENSG00000112787.14 | transcript | ENST00000680143.1 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
FGD2_chr6_37000655_37034069 | 37012986 | G | GTGTATAC others(191): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 |
a0005 | a0005c0015 | a0005c0015t0002 | a0005c0015t0002g0046 | 2 | 300 | 0.0067 | 198 | c.528 others(213): Show |
FGD2 | ENSG00000146192.15 | transcript | ENST00000274963.13 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FGD6_chr12_95071749_95222467 | 95148880 | A | ATATATAA others(191): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 318 | 0.0031 | 198 | c.268 others(217): Show |
FGD6 | ENSG00000180263.14 | transcript | ENST00000343958.9 | protein_coding | 5/20 | chr12 | TogoVar | |||||||
FGD6_chr12_95071749_95222467 | 95148970 | A | ATATATTA others(191): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 327 | 0.0031 | 198 | c.268 others(217): Show |
FGD6 | ENSG00000180263.14 | transcript | ENST00000343958.9 | protein_coding | 5/20 | chr12 | TogoVar | |||||||
FHIT_chr3_59742277_61256452 | 60860317 | G | GATACATC others(191): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0033 | 1 | 45 | 0.0222 | 198 | c.-11 others(219): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 3/9 | chr3 | TogoVar | |||||||
FHIT_chr3_59742277_61256452 | 60860339 | G | GATACATC others(191): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0010 | 1 | 26 | 0.0385 | 198 | c.-11 others(219): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 3/9 | chr3 | TogoVar | |||||||
FHIT_chr3_59742277_61256452 | 60860339 | G | GATACATC others(191): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0031 | 1 | 26 | 0.0385 | 198 | c.-11 others(219): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 3/9 | chr3 | TogoVar | |||||||
FLT3_chr13_27998274_28105576 | 27998863 | T | TATATTTA others(191): Show |
downstream_gene_variant | MODIFIER | HG01106.hp2 HG03942.hp1 NA18973.hp2 |
a0002a0003a0012 | a0002c0008a0003c0003a0012c0045 | a0002c0008t0001a0003c0003t0001a0012c0045t0001 | a0002c0008t0001g0179 a0003c0003t0001g0237 a0012c0045t0001g0220 |
3 | 97 | 0.0309 | 198 | c.*51 others(209): Show |
FLT3 | ENSG00000122025.15 | transcript | ENST00000241453.12 | protein_coding | 4410 | chr13 | TogoVar | |||||||
FLT3_chr13_27998274_28105576 | 27998978 | A | AATATATA others(191): Show |
downstream_gene_variant | MODIFIER | HG02080.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0232 | 1 | 215 | 0.0047 | 198 | c.*50 others(209): Show |
FLT3 | ENSG00000122025.15 | transcript | ENST00000241453.12 | protein_coding | 4295 | chr13 | TogoVar | |||||||
FLT3_chr13_27998274_28105576 | 27999126 | A | ATATAAAT others(191): Show |
downstream_gene_variant | MODIFIER | NA21309.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0226 | 1 | 290 | 0.0034 | 198 | c.*49 others(209): Show |
FLT3 | ENSG00000122025.15 | transcript | ENST00000241453.12 | protein_coding | 4147 | chr13 | TogoVar | |||||||
FMN2_chr1_240086883_240480187 | 240207734 | A | AATACCTC others(191): Show |
disruptive_inframe_insertion | MODERATE | HG02738.hp1 | a0056 | a0056c0116 | a0056c0116t0001 | a0056c0116t0001g0123 | 1 | 95 | 0.0105 | 198 | c.297 others(207): Show |
p.Pro others(211): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 5/18 | 3200/6429 | 2973/5169 | 991/1722 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
FMN2_chr1_240086883_240480187 | 240207734 | A | AATACCTC others(191): Show |
disruptive_inframe_insertion | MODERATE | HG00738.hp1 | a0033 | a0033c0065 | a0033c0065t0002 | a0033c0065t0002g0017 | 1 | 95 | 0.0105 | 198 | c.296 others(207): Show |
p.Pro others(211): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 5/18 | 3190/6429 | 2963/5169 | 988/1722 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
FMN2_chr1_240086883_240480187 | 240207734 | A | AATACCTC others(191): Show |
disruptive_inframe_insertion | MODERATE | HG01891.hp2 | a0042 | a0042c0102 | a0042c0102t0010 | a0042c0102t0010g0171 | 1 | 95 | 0.0105 | 198 | c.296 others(207): Show |
p.Pro others(211): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 5/18 | 3190/6429 | 2963/5169 | 988/1722 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
FOXP1_chr3_70949708_71588728 | 71396980 | A | ATACACAC others(191): Show |
intron_variant | MODIFIER | HG02809.hp2 HG03139.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0033a0001c0001t0066a0001c0001t0076 | a0001c0001t0033g0059 a0001c0001t0066g0022 a0001c0001t0076g0023 |
3 | 69 | 0.0435 | 198 | c.-16 others(219): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 3/20 | chr3 | TogoVar | |||||||
GABRA3_chrX_152161234_152456315 | 152182720 | A | ATACACTG others(191): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0053 | 1 | 177 | 0.0056 | 198 | c.114 others(217): Show |
GABRA3 | ENSG00000011677.13 | transcript | ENST00000370314.9 | protein_coding | 9/9 | chrX | TogoVar | |||||||
GABRD_chr1_2014345_2035758 | 2019220 | C | CGGGGGGC others(191): Show |
upstream_gene_variant | MODIFIER | HG02015.hp2 HG02071.hp1 |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0025 | 2 | 20 | 0.1000 | 198 | c.-20 others(207): Show |
GABRD | ENSG00000187730.9 | transcript | ENST00000378585.7 | protein_coding | 124 | chr1 | TogoVar | |||||||
GAL3ST2_chr2_241771822_241809287 | 241805403 | T | TTCCCTCC others(191): Show |
downstream_gene_variant | MODIFIER | NA19077.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 119 | 0.0084 | 198 | c.*12 others(209): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1117 | chr2 | TogoVar | |||||||
GAL3ST2_chr2_241771822_241809287 | 241805787 | C | CCCTCCCC others(191): Show |
downstream_gene_variant | MODIFIER | HG01106.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0011 | 1 | 276 | 0.0036 | 198 | c.*16 others(209): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1501 | chr2 | TogoVar | |||||||
GALR1_chr18_77244848_77282900 | 77258594 | G | GTGGTGGT others(191): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0110 | 1 | 363 | 0.0028 | 198 | c.732 others(215): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77258602 | C | CATGGTGG others(191): Show |
intron_variant | MODIFIER | HG02055.hp2 HG03130.hp1 HG03195.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0076a0001c0002t0127a0001c0002t0129 | a0001c0001t0076g0278 a0001c0002t0127g0172 a0001c0002t0129g0240 |
3 | 197 | 0.0152 | 198 | c.732 others(215): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77258602 | C | CATGGTGG others(191): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00558.hp1 others(130): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(69): Show | a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 others(124): Show |
133 | 327 | 0.4067 | 198 | c.732 others(215): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GAS6_chr13_113815549_113869076 | 113841812 | G | GTTTCCTC others(191): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0004 | 1 | 142 | 0.0070 | 198 | c.344 others(215): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 4/14 | chr13 | TogoVar | |||||||
GATD3_chr21_44128683_44150711 | 44147683 | A | ACCCCCAC others(191): Show |
downstream_gene_variant | MODIFIER | HG02559.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0010 | 1 | 33 | 0.0303 | 198 | c.*27 others(209): Show |
GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 1973 | chr21 | TogoVar | |||||||
GATD3_chr21_44128683_44150711 | 44147683 | A | ACCCCCAC others(191): Show |
downstream_gene_variant | MODIFIER | HG02976.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0004 | 1 | 33 | 0.0303 | 198 | c.*27 others(209): Show |
GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 1973 | chr21 | TogoVar | |||||||
GMEB2_chr20_63582605_63632101 | 63609347 | C | CACCTCCA others(191): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0086 | 1 | 313 | 0.0032 | 198 | c.132 others(215): Show |
GMEB2 | ENSG00000101216.11 | transcript | ENST00000370077.2 | protein_coding | 2/9 | chr20 | TogoVar | |||||||
GNAQ_chr9_77711097_78036811 | 77894338 | T | TTATATAT others(191): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0006 | 1 | 150 | 0.0067 | 198 | c.321 others(217): Show |
GNAQ | ENSG00000156052.11 | transcript | ENST00000286548.9 | protein_coding | 2/6 | chr9 | TogoVar | |||||||
GNAQ_chr9_77711097_78036811 | 77894359 | T | TATATAAT others(191): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00642.hp2 others(64): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0141 others(64): Show |
67 | 209 | 0.3206 | 198 | c.321 others(217): Show |
GNAQ | ENSG00000156052.11 | transcript | ENST00000286548.9 | protein_coding | 2/6 | chr9 | TogoVar | |||||||
GNAQ_chr9_77711097_78036811 | 77894359 | T | TATATAAT others(191): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0178 | 1 | 143 | 0.0070 | 198 | c.321 others(217): Show |
GNAQ | ENSG00000156052.11 | transcript | ENST00000286548.9 | protein_coding | 2/6 | chr9 | TogoVar | |||||||
GOLM1_chr9_86021146_86104558 | 86053681 | T | TCCACACA others(191): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224 | 1 | 44 | 0.0227 | 198 | c.310 others(215): Show |
GOLM1 | ENSG00000135052.16 | transcript | ENST00000388712.7 | protein_coding | 3/9 | chr9 | TogoVar | |||||||
GOLM1_chr9_86021146_86104558 | 86053684 | A | ACACACAC others(191): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02896.hp1 NA20129.hp2 |
a0002 | a0002c0006 | a0002c0006t0012 | a0002c0006t0012g0112 a0002c0006t0012g0113 a0002c0006t0012g0114 |
3 | 307 | 0.0098 | 198 | c.310 others(215): Show |
GOLM1 | ENSG00000135052.16 | transcript | ENST00000388712.7 | protein_coding | 3/9 | chr9 | TogoVar | |||||||
GOLM1_chr9_86021146_86104558 | 86053684 | A | ACACACAC others(191): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 HG01884.hp2 |
a0003 | a0003c0005 | a0003c0005t0008 | a0003c0005t0008g0211 a0003c0005t0008g0212 a0003c0005t0008g0213 |
3 | 307 | 0.0098 | 198 | c.310 others(215): Show |
GOLM1 | ENSG00000135052.16 | transcript | ENST00000388712.7 | protein_coding | 3/9 | chr9 | TogoVar |