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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GFRA1_chr10_116051925_116278206 | 116117561 | A | ATGGATGG others(37): Show |
intron_variant | MODIFIER | HG00673.hp2 HG02040.hp1 |
a0001 | a0001c0001 | a0001c0001t0060a0001c0001t0066 | a0001c0001t0060g0144a0001c0001t0066g0192 | 2 | 214 | 0.0094 | 44 | c.770 others(61): Show |
GFRA1 | ENSG00000151892.16 | transcript | ENST00000355422.11 | protein_coding | 6/10 | chr10 | TogoVar | ||||||
GFRA2_chr8_21685398_21793875 | 21694075 | T | TTATATAT others(37): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0002 | a0002c0002 | a0002c0002t0027 | a0002c0002t0027g0015 | 1 | 322 | 0.0031 | 44 | c.127 others(61): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 8/8 | chr8 | TogoVar | ||||||
GHRHR_chr7_30958953_30984528 | 30968640 | C | CCCTCCCT others(37): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0140 | 1 | 422 | 0.0024 | 44 | c.58- others(57): Show |
GHRHR | ENSG00000106128.19 | transcript | ENST00000326139.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GHRHR_chr7_30958953_30984528 | 30968640 | C | CCCTCCCT others(37): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0153 | 1 | 422 | 0.0024 | 44 | c.58- others(57): Show |
GHRHR | ENSG00000106128.19 | transcript | ENST00000326139.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GHRHR_chr7_30958953_30984528 | 30968640 | C | CCCTCCCT others(37): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02615.hp1 HG02809.hp2 |
a0003a0004 | a0003c0003a0004c0005 | a0003c0003t0001a0003c0003t0007a0004c0005t0001 | a0003c0003t0001g0156a0003c0003t0007g0182a0004c0005t0001g0148 | 3 | 422 | 0.0071 | 44 | c.58- others(57): Show |
GHRHR | ENSG00000106128.19 | transcript | ENST00000326139.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GHRHR_chr7_30958953_30984528 | 30968640 | C | CCCTTCCT others(37): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0003 | a0003c0003 | a0003c0003t0007 | a0003c0003t0007g0187 | 1 | 422 | 0.0024 | 44 | c.58- others(57): Show |
GHRHR | ENSG00000106128.19 | transcript | ENST00000326139.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GHR_chr5_42418439_42726878 | 42474295 | G | GAAAAAGA others(37): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0004 | a0004c0004 | a0004c0004t0012 | a0004c0004t0012g0177 | 1 | 210 | 0.0048 | 44 | c.-12 others(63): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
GHR_chr5_42418439_42726878 | 42474295 | G | GAAAGAAA others(37): Show |
intron_variant | MODIFIER | HG02083.hp2 NA19000.hp2 |
a0004 | a0004c0004 | a0004c0004t0012a0004c0004t0032 | a0004c0004t0012g0007a0004c0004t0032g0004 | 2 | 210 | 0.0095 | 44 | c.-12 others(63): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
GHR_chr5_42418439_42726878 | 42583878 | G | GATATATA others(37): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0026 | 1 | 210 | 0.0048 | 44 | c.70+ others(61): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
GIPR_chr19_45663221_45688722 | 45671202 | A | AAGCACTT others(37): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0131 | 1 | 416 | 0.0024 | 44 | c.173 others(57): Show |
GIPR | ENSG00000010310.9 | transcript | ENST00000590918.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
GKN1_chr2_68969636_68985976 | 68978271 | G | GGAAGGAA others(37): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 464 | 0.0022 | 44 | c.204 others(59): Show |
GKN1 | ENSG00000169605.7 | transcript | ENST00000377938.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GKN1_chr2_68969636_68985976 | 68978271 | G | GGAAGGAA others(37): Show |
intron_variant | MODIFIER | HG01934.hp2 HG01993.hp2 HG02165.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0043a0001c0001t0001g0108others(1): Show | 14 | 464 | 0.0302 | 44 | c.204 others(59): Show |
GKN1 | ENSG00000169605.7 | transcript | ENST00000377938.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GK_chrX_30648423_30736462 | 30704149 | T | TATATATA others(37): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0004 | a0001c0004t0017 | a0001c0004t0017g0111 | 1 | 286 | 0.0035 | 44 | c.851 others(61): Show |
GK | ENSG00000198814.14 | transcript | ENST00000427190.6 | protein_coding | 11/20 | chrX | TogoVar | ||||||
GLB1L3_chr11_134271379_134324564 | 134308472 | A | ACCATGTC others(37): Show |
intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0311 | 1 | 422 | 0.0024 | 44 | c.962 others(61): Show |
GLB1L3 | ENSG00000166105.16 | transcript | ENST00000431683.7 | protein_coding | 10/19 | chr11 | TogoVar | ||||||
GLB1_chr3_32991617_33102146 | 33074385 | G | GAAGAAAG others(37): Show |
intron_variant | MODIFIER | HG02258.hp2 HG03704.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086a0001c0001t0001g0090 | 2 | 394 | 0.0051 | 44 | c.76- others(59): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 1/15 | chr3 | TogoVar | ||||||
GLB1_chr3_32991617_33102146 | 33074389 | G | GAAGGAAG others(37): Show |
intron_variant | MODIFIER | HG02559.hp2 NA19003.hp1 NA19084.hp2 |
a0001a0002 | a0001c0010a0001c0011a0002c0003 | a0001c0010t0001a0001c0011t0001a0002c0003t0001 | a0001c0010t0001g0232a0001c0011t0001g0229a0002c0003t0001g0259 | 3 | 394 | 0.0076 | 44 | c.76- others(59): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 1/15 | chr3 | TogoVar | ||||||
GLB1_chr3_32991617_33102146 | 33074389 | G | GAAGGAAG others(37): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01123.hp1 HG01934.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0001a0001c0005t0001a0002c0002t0001others(3): Show | a0001c0001t0001g0013a0001c0005t0001g0235a0002c0002t0001g0288others(5): Show | 8 | 394 | 0.0203 | 44 | c.76- others(59): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 1/15 | chr3 | TogoVar | ||||||
GLB1_chr3_32991617_33102146 | 33074389 | G | GAAGGAAG others(37): Show |
intron_variant | MODIFIER | NA18941.hp1 NA18972.hp1 NA18984.hp1 others(1): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0001a0002c0002t0002a0002c0003t0001 | a0002c0002t0001g0311a0002c0002t0002g0287a0002c0003t0001g0289others(1): Show | 4 | 394 | 0.0102 | 44 | c.76- others(59): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 1/15 | chr3 | TogoVar | ||||||
GLB1_chr3_32991617_33102146 | 33074389 | G | GAAGGAAG others(37): Show |
intron_variant | MODIFIER | HG02148.hp2 HG02922.hp2 NA18944.hp1 others(2): Show |
a0002a0007 | a0002c0002a0002c0003a0007c0017 | a0002c0002t0001a0002c0002t0002a0002c0003t0001others(1): Show | a0002c0002t0001g0351a0002c0002t0002g0360a0002c0003t0001g0299others(2): Show | 5 | 394 | 0.0127 | 44 | c.76- others(59): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 1/15 | chr3 | TogoVar | ||||||
GLB1_chr3_32991617_33102146 | 33074389 | G | GAAGGAAG others(37): Show |
intron_variant | MODIFIER | HG02965.hp2 NA18959.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0002c0003t0001 | a0001c0001t0002g0226a0002c0003t0001g0260 | 2 | 394 | 0.0051 | 44 | c.76- others(59): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 1/15 | chr3 | TogoVar | ||||||
GLDC_chr9_6527467_6650729 | 6629957 | A | ATATATAT others(37): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0002 | a0002c0006 | a0002c0006t0026 | a0002c0006t0026g0340 | 1 | 342 | 0.0029 | 44 | c.335 others(61): Show |
GLDC | ENSG00000178445.10 | transcript | ENST00000321612.8 | protein_coding | 2/24 | chr9 | TogoVar | ||||||
GLDC_chr9_6527467_6650729 | 6629957 | A | ATATATAT others(37): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0060 | 1 | 342 | 0.0029 | 44 | c.335 others(61): Show |
GLDC | ENSG00000178445.10 | transcript | ENST00000321612.8 | protein_coding | 2/24 | chr9 | TogoVar | ||||||
GLI3_chr7_41955949_42242209 | 42182646 | A | ATATATAT others(37): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0098 | 1 | 158 | 0.0063 | 44 | c.125 others(63): Show |
GLI3 | ENSG00000106571.15 | transcript | ENST00000395925.8 | protein_coding | 2/14 | chr7 | TogoVar | ||||||
GLI3_chr7_41955949_42242209 | 42182660 | A | ATATACAT others(37): Show |
intron_variant | MODIFIER | HG01433.hp2 HG01891.hp2 HG02280.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0011 | a0001c0001t0001g0080a0001c0001t0001g0088a0001c0001t0001g0089others(3): Show | 6 | 158 | 0.0380 | 44 | c.125 others(63): Show |
GLI3 | ENSG00000106571.15 | transcript | ENST00000395925.8 | protein_coding | 2/14 | chr7 | TogoVar | ||||||
GLP1R_chr6_39043781_39096303 | 39057747 | C | CCAGCAGT others(37): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01109.hp2 HG01123.hp2 others(20): Show |
a0001a0003a0007 | a0001c0004a0001c0011a0001c0017others(2): Show | a0001c0004t0004a0001c0004t0007a0001c0004t0011others(12): Show | a0001c0004t0004g0106a0001c0004t0007g0001a0001c0004t0007g0054others(17): Show | 23 | 438 | 0.0525 | 44 | c.283 others(59): Show |
GLP1R | ENSG00000112164.6 | transcript | ENST00000373256.5 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
GLP2R_chr17_9820924_9897099 | 9879291 | T | TAAAATAA others(37): Show |
intron_variant | MODIFIER | HG00323.hp2 HG02015.hp1 HG02080.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0046a0001c0001t0001g0223a0001c0001t0002g0045others(1): Show | 4 | 380 | 0.0105 | 44 | c.114 others(63): Show |
GLP2R | ENSG00000065325.13 | transcript | ENST00000262441.10 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
GLP2R_chr17_9820924_9897099 | 9879291 | T | TAAAATAA others(37): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00597.hp1 HG02056.hp1 others(10): Show |
a0001 | a0001c0001a0001c0012 | a0001c0001t0001a0001c0012t0001 | a0001c0001t0001g0056a0001c0001t0001g0076a0001c0001t0001g0079others(10): Show | 13 | 380 | 0.0342 | 44 | c.114 others(63): Show |
GLP2R | ENSG00000065325.13 | transcript | ENST00000262441.10 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
GLP2R_chr17_9820924_9897099 | 9879291 | T | TAAAATAA others(37): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0331 | 1 | 380 | 0.0026 | 44 | c.114 others(63): Show |
GLP2R | ENSG00000065325.13 | transcript | ENST00000262441.10 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
GLP2R_chr17_9820924_9897099 | 9879292 | A | AAAATAAA others(37): Show |
intron_variant | MODIFIER | HG00673.hp2 HG02896.hp1 HG02897.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059a0001c0001t0001g0137a0001c0001t0001g0138others(1): Show | 4 | 380 | 0.0105 | 44 | c.114 others(63): Show |
GLP2R | ENSG00000065325.13 | transcript | ENST00000262441.10 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
GLRA1_chr5_151817513_151929851 | 151849452 | T | TTTCCTTT others(37): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0249 | 1 | 284 | 0.0035 | 44 | c.912 others(61): Show |
GLRA1 | ENSG00000145888.11 | transcript | ENST00000274576.9 | protein_coding | 7/8 | chr5 | TogoVar | ||||||
GLT1D1_chr12_128848478_128989968 | 128989778 | T | TACTTTTT others(37): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(168): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0004others(11): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(31): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(168): Show | 171 | 320 | 0.5344 | 44 | c.*66 others(55): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 4811 | chr12 | TogoVar | ||||||
GLT1D1_chr12_128848478_128989968 | 128989798 | A | ATACCTTT others(37): Show |
downstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 320 | 0.0031 | 44 | c.*67 others(55): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 4831 | chr12 | TogoVar | ||||||
GMDS_chr6_1618806_2250605 | 1999982 | T | TATATATA others(37): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0166 | 1 | 166 | 0.0060 | 44 | c.346 others(63): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 4/10 | chr6 | TogoVar | ||||||
GMDS_chr6_1618806_2250605 | 1999998 | A | ATATATAT others(37): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00544.hp2 HG01175.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0024a0001c0001t0001g0095a0001c0001t0001g0102others(15): Show | 18 | 166 | 0.1084 | 44 | c.346 others(63): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 4/10 | chr6 | TogoVar | ||||||
GMDS_chr6_1618806_2250605 | 2052116 | C | CAAAAAAA others(37): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0104 | 1 | 166 | 0.0060 | 44 | c.345 others(63): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 4/10 | chr6 | TogoVar | ||||||
GNA12_chr7_2723105_2849308 | 2763191 | A | AACACACA others(37): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0271 | 1 | 322 | 0.0031 | 44 | c.526 others(63): Show |
GNA12 | ENSG00000146535.14 | transcript | ENST00000275364.8 | protein_coding | 2/3 | chr7 | TogoVar | ||||||
GNA12_chr7_2723105_2849308 | 2842110 | G | GAGAAGAA others(37): Show |
intron_variant | MODIFIER | HG02818.hp2 HG02896.hp2 HG02922.hp1 |
a0001 | a0001c0004 | a0001c0004t0014 | a0001c0004t0014g0285a0001c0004t0014g0286a0001c0004t0014g0287 | 3 | 322 | 0.0093 | 44 | c.309 others(61): Show |
GNA12 | ENSG00000146535.14 | transcript | ENST00000275364.8 | protein_coding | 1/3 | chr7 | TogoVar | ||||||
GNA12_chr7_2723105_2849308 | 2842110 | G | GGGAAGAA others(37): Show |
intron_variant | MODIFIER | HG00741.hp1 HG03098.hp1 HG03486.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0009a0001c0004t0018 | a0001c0001t0001g0264a0001c0001t0009g0267a0001c0001t0009g0268others(2): Show | 5 | 322 | 0.0155 | 44 | c.309 others(61): Show |
GNA12 | ENSG00000146535.14 | transcript | ENST00000275364.8 | protein_coding | 1/3 | chr7 | TogoVar | ||||||
GNA15_chr19_3131033_3168749 | 3140044 | A | AAAAAATC others(37): Show |
intron_variant | MODIFIER | HG02698.hp1 HG03490.hp2 NA18993.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0306a0001c0001t0001g0307a0001c0002t0001g0336others(1): Show | 4 | 450 | 0.0089 | 44 | c.145 others(61): Show |
GNA15 | ENSG00000060558.4 | transcript | ENST00000262958.4 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
GNAL_chr18_11684264_11890685 | 11803962 | T | TGAGTGGA others(37): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02922.hp2 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0124a0001c0001t0147a0001c0001t0182 | a0001c0001t0124g0196a0001c0001t0147g0236a0001c0001t0182g0075 | 3 | 248 | 0.0121 | 44 | c.625 others(63): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000334049.11 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
GNAL_chr18_11684264_11890685 | 11803965 | A | ATGGAACA others(37): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0025 | 1 | 248 | 0.0040 | 44 | c.625 others(63): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000334049.11 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
GNAL_chr18_11684264_11890685 | 11804335 | T | TAAAGTTT others(37): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01261.hp1 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0033a0001c0001t0124a0001c0001t0147 | a0001c0001t0033g0025a0001c0001t0124g0196a0001c0001t0147g0236 | 3 | 248 | 0.0121 | 44 | c.625 others(63): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000334049.11 | protein_coding | 4/11 | chr18 | TogoVar | ||||||
GNAL_chr18_11684264_11890685 | 11804431 | T | TAAAGTTT others(37): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG03540.hp2 |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0032a0004c0004t0053 | a0001c0001t0032g0033a0001c0001t0032g0034a0004c0004t0053g0002 | 3 | 248 | 0.0121 | 44 | c.625 others(63): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000334049.11 | protein_coding | 4/11 | chr18 | TogoVar | ||||||
GNAL_chr18_11747085_11890685 | 11803962 | T | TGAGTGGA others(37): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02922.hp1 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0112a0001c0001t0160 | a0001c0001t0009g0241a0001c0001t0112g0246a0001c0001t0160g0061 | 3 | 284 | 0.0106 | 44 | c.394 others(63): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000423027.8 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
GNAL_chr18_11747085_11890685 | 11803965 | A | ATGGAACA others(37): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0278 | 1 | 284 | 0.0035 | 44 | c.394 others(63): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000423027.8 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
GNAL_chr18_11747085_11890685 | 11804335 | T | TAAAGTTT others(37): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01261.hp2 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0009a0001c0001t0112 | a0001c0001t0005g0278a0001c0001t0009g0241a0001c0001t0112g0246 | 3 | 284 | 0.0106 | 44 | c.394 others(63): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000423027.8 | protein_coding | 4/11 | chr18 | TogoVar | ||||||
GNAL_chr18_11747085_11890685 | 11804431 | T | TAAAGTTT others(37): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0036a0001c0001t0120 | a0001c0001t0036g0184a0001c0001t0036g0185a0001c0001t0120g0204 | 3 | 284 | 0.0106 | 44 | c.394 others(63): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000423027.8 | protein_coding | 4/11 | chr18 | TogoVar | ||||||
GNAT3_chr7_80453635_80517064 | 80497671 | C | CATATACG others(37): Show |
intron_variant | MODIFIER | HG02886.hp2 NA20905.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0032a0001c0002t0002g0048 | 2 | 334 | 0.0060 | 44 | c.119 others(61): Show |
GNAT3 | ENSG00000214415.4 | transcript | ENST00000398291.4 | protein_coding | 1/7 | chr7 | TogoVar | ||||||
GNB1_chr1_1780286_1896087 | 1864314 | C | CAAAAAAA others(37): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0256 | 1 | 336 | 0.0030 | 44 | c.-95 others(63): Show |
GNB1 | ENSG00000078369.19 | transcript | ENST00000378609.9 | protein_coding | 1/11 | chr1 | TogoVar | ||||||
GNB5_chr15_52110100_52196392 | 52117102 | A | ATATATAT others(37): Show |
3_prime_UTR_variant | MODIFIER | HG01981.hp1 HG02293.hp1 |
a0001 | a0001c0001 | a0001c0001t0193a0001c0001t0199 | a0001c0001t0193g0329a0001c0001t0199g0327 | 2 | 366 | 0.0055 | 44 | c.*56 others(55): Show |
GNB5 | ENSG00000069966.19 | transcript | ENST00000261837.12 | protein_coding | 13/13 | 5654 | chr15 | TogoVar |