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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GAS6_chr13_113815549_113869076 | 113826467 | TCGCAGGC others(26): Show |
T | intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 143 | 0.0070 | -33 | c.147 others(50): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 12/14 | chr13 | TogoVar | ||||||
GAS6_chr13_113815549_113869076 | 113826506 | TCGCAGGC others(26): Show |
T | intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0071 | 1 | 143 | 0.0070 | -33 | c.147 others(50): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 12/14 | chr13 | TogoVar | ||||||
GATA5_chr20_62458497_62480995 | 62463434 | CGGGTGAT others(26): Show |
C | downstream_gene_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0022 | 1 | 382 | 0.0026 | -33 | c.*13 others(44): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 62 | chr20 | TogoVar | ||||||
GATA5_chr20_62458497_62480995 | 62474281 | TGGGGGTG others(26): Show |
T | intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 382 | 0.0026 | -33 | c.523 others(48): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 2/6 | chr20 | TogoVar | ||||||
GATA5_chr20_62458497_62480995 | 62480102 | CTGAGAGG others(26): Show |
C | upstream_gene_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0158 | 1 | 382 | 0.0026 | -33 | c.-42 others(44): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 4108 | chr20 | TogoVar | ||||||
GCGR_chr17_81799150_81819008 | 81818704 | GATAGTGA others(26): Show |
G | downstream_gene_variant | MODIFIER | HG03041.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 2 | 408 | 0.0049 | -33 | c.*50 others(44): Show |
GCGR | ENSG00000215644.10 | transcript | ENST00000400723.8 | protein_coding | 4697 | chr17 | TogoVar | ||||||
GCNT2_chr6_10516351_10634368 | 10589156 | GTGCGTGT others(26): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG01099.hp1 HG01099.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(1): Show | a0001c0001t0001g0032a0001c0001t0001g0125a0001c0001t0001g0192others(5): Show | 8 | 324 | 0.0247 | -33 | c.926 others(52): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
GCNT2_chr6_10550809_10634368 | 10589156 | GTGCGTGT others(26): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG01099.hp1 HG01099.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0001g0056a0001c0001t0001g0067a0001c0001t0001g0189others(6): Show | 9 | 344 | 0.0262 | -33 | c.919 others(52): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000316170.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
GCNT3_chr15_59606783_59627723 | 59611088 | CCCCCTCC others(26): Show |
C | upstream_gene_variant | MODIFIER | HG02109.hp2 NA18977.hp2 NA19078.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0064 | a0001c0001t0002g0093a0001c0001t0003g0001a0001c0001t0064g0036 | 3 | 428 | 0.0070 | -33 | c.-11 others(44): Show |
GCNT3 | ENSG00000140297.13 | transcript | ENST00000396065.3 | protein_coding | 694 | chr15 | TogoVar | ||||||
GCNT3_chr15_59606783_59627723 | 59611094 | CCCCTTCT others(26): Show |
C | upstream_gene_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0023 | 1 | 428 | 0.0023 | -33 | c.-11 others(44): Show |
GCNT3 | ENSG00000140297.13 | transcript | ENST00000396065.3 | protein_coding | 688 | chr15 | TogoVar | ||||||
GCNT3_chr15_59606783_59627723 | 59611102 | CCTCCCCC others(26): Show |
C | upstream_gene_variant | MODIFIER | HG02155.hp2 NA18977.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0072 | a0001c0001t0002g0057a0001c0001t0072g0004 | 2 | 428 | 0.0047 | -33 | c.-11 others(44): Show |
GCNT3 | ENSG00000140297.13 | transcript | ENST00000396065.3 | protein_coding | 680 | chr15 | TogoVar | ||||||
GDF2_chr10_47317454_47332588 | 47324861 | ACAGAGGA others(26): Show |
A | disruptive_inframe_deletion | MODERATE | HG01070.hp2 | a0005 | a0005c0010 | a0005c0010t0001 | a0005c0010t0001g0026 | 1 | 424 | 0.0024 | -33 | c.368 others(40): Show |
p.Thr others(19): Show |
GDF2 | ENSG00000263761.3 | transcript | ENST00000581492.3 | protein_coding | 2/2 | 583/3309 | 368/1290 | 123/429 | chr10 | TogoVar | ||
GEMIN4_chr17_739421_757264 | 749003 | CAGCAATC others(26): Show |
C | intron_variant | MODIFIER | HG01123.hp2 HG01192.hp2 HG02135.hp2 others(12): Show |
a0001a0006a0018others(1): Show | a0001c0001a0006c0008a0006c0013others(2): Show | a0001c0001t0001a0006c0008t0001a0006c0013t0001others(2): Show | a0001c0001t0001g0066a0006c0008t0001g0010a0006c0013t0001g0016others(3): Show | 15 | 434 | 0.0346 | -33 | c.11- others(47): Show |
GEMIN4 | ENSG00000179409.11 | transcript | ENST00000319004.6 | protein_coding | 1/1 | chr17 | TogoVar | ||||||
GEMIN4_chr17_739421_757264 | 749024 | GTAATGGG others(26): Show |
G | intron_variant | MODIFIER | HG01243.hp1 | a0025 | a0025c0036 | a0025c0036t0001 | a0025c0036t0001g0055 | 1 | 434 | 0.0023 | -33 | c.11- others(47): Show |
GEMIN4 | ENSG00000179409.11 | transcript | ENST00000319004.6 | protein_coding | 1/1 | chr17 | TogoVar | ||||||
GEMIN4_chr17_739421_757264 | 749452 | TACAGGAT others(26): Show |
T | intron_variant | MODIFIER | HG01192.hp2 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065a0001c0001t0001g0066 | 2 | 434 | 0.0046 | -33 | c.11- others(48): Show |
GEMIN4 | ENSG00000179409.11 | transcript | ENST00000319004.6 | protein_coding | 1/1 | chr17 | TogoVar | ||||||
GFPT1_chr2_69314780_69392227 | 69388195 | GTGCTGAC others(26): Show |
G | upstream_gene_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0002 | a0001c0002t0047 | a0001c0002t0047g0046 | 1 | 366 | 0.0027 | -33 | c.-11 others(44): Show |
GFPT1 | ENSG00000198380.13 | transcript | ENST00000357308.9 | protein_coding | 969 | chr2 | TogoVar | ||||||
GFRA1_chr10_116051925_116278206 | 116064043 | CATCATGA others(26): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02717.hp2 HG02886.hp1 |
a0002 | a0002c0003 | a0002c0003t0034 | a0002c0003t0034g0001a0002c0003t0034g0040 | 2 | 214 | 0.0094 | -33 | c.*32 others(42): Show |
GFRA1 | ENSG00000151892.16 | transcript | ENST00000355422.11 | protein_coding | 11/11 | 322 | chr10 | TogoVar | |||||
GFRAL_chr6_55322469_55407493 | 55329285 | CAAAAACT others(26): Show |
C | intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0158 | 1 | 386 | 0.0026 | -33 | c.22+ others(48): Show |
GFRAL | ENSG00000187871.2 | transcript | ENST00000340465.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
GGT1_chr22_24598193_24633996 | 24605540 | ATGTGTAT others(26): Show |
A | intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 426 | 0.0024 | -33 | c.-42 others(52): Show |
GGT1 | ENSG00000100031.19 | transcript | ENST00000400382.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
GGT6_chr17_4551927_4565577 | 4564669 | CTTTCTTT others(26): Show |
C | upstream_gene_variant | MODIFIER | HG00323.hp2 HG02451.hp2 HG02895.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0022 | a0001c0001t0001a0001c0001t0011a0001c0002t0004others(1): Show | a0001c0001t0001g0001a0001c0001t0011g0016a0001c0002t0004g0003others(1): Show | 11 | 458 | 0.0240 | -33 | c.-41 others(44): Show |
GGT6 | ENSG00000167741.11 | transcript | ENST00000381550.8 | protein_coding | 4093 | chr17 | TogoVar | ||||||
GHRH_chr20_37246086_37266814 | 37256911 | GCAGAGTG others(26): Show |
G | splice_region_variant others(1): Show |
LOW | NA19077.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 408 | 0.0025 | -33 | c.-19 others(45): Show |
GHRH | ENSG00000118702.11 | transcript | ENST00000373614.7 | protein_coding | 1/4 | chr20 | TogoVar | ||||||
GHR_chr5_42418439_42726878 | 42576110 | AAATAAAA others(26): Show |
A | intron_variant | MODIFIER | HG01099.hp1 HG03239.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0028 | a0001c0001t0002g0057a0001c0001t0028g0108 | 2 | 210 | 0.0095 | -33 | c.70+ others(50): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
GHR_chr5_42418439_42726878 | 42679116 | ATATATTA others(26): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00621.hp2 HG00735.hp1 others(22): Show |
a0003a0004a0005 | a0003c0005a0004c0004a0005c0007 | a0003c0005t0002a0003c0005t0007a0004c0004t0011others(13): Show | a0003c0005t0002g0201a0003c0005t0007g0033a0004c0004t0011g0001others(22): Show | 25 | 210 | 0.1191 | -33 | c.137 others(50): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
GIGYF1_chr7_100674507_100699250 | 100694312 | ACCGCCGC others(26): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(224): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0003a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(51): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(119): Show | 227 | 398 | 0.5704 | -33 | c.-13 others(44): Show |
GIGYF1 | ENSG00000146830.11 | transcript | ENST00000678049.1 | protein_coding | 63 | chr7 | TogoVar | ||||||
GINM1_chr6_149561375_149596748 | 149586831 | GCCTCAAT others(26): Show |
G | intron_variant | MODIFIER | HG06807.hp2 | a0005 | a0005c0008 | a0005c0008t0015 | a0005c0008t0015g0054 | 1 | 380 | 0.0026 | -33 | c.882 others(50): Show |
GINM1 | ENSG00000055211.14 | transcript | ENST00000367419.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
GIPR_chr19_45663221_45688722 | 45675697 | GGTAACAT others(26): Show |
G | intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0125 | 1 | 416 | 0.0024 | -33 | c.633 others(48): Show |
GIPR | ENSG00000010310.9 | transcript | ENST00000590918.6 | protein_coding | 7/13 | chr19 | TogoVar | ||||||
GJA10_chr6_89889469_89901120 | 89898177 | TTCCCTTC others(26): Show |
T | downstream_gene_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 386 | 0.0026 | -33 | c.*20 others(44): Show |
GJA10 | ENSG00000135355.4 | transcript | ENST00000369352.1 | protein_coding | 2058 | chr6 | TogoVar | ||||||
GLB1L3_chr11_134271379_134324564 | 134293697 | CCAGCCTC others(26): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00733.hp2 others(32): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0002g0036a0001c0001t0002g0277a0001c0002t0001g0127others(29): Show | 35 | 422 | 0.0829 | -33 | c.876 others(48): Show |
GLB1L3 | ENSG00000166105.16 | transcript | ENST00000431683.7 | protein_coding | 9/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
GLIS1_chr1_53501239_53744164 | 53556009 | GGTGTGTG others(26): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp2 NA20752.hp2 |
a0001a0012 | a0001c0001a0012c0021 | a0001c0001t0001a0001c0001t0005a0012c0021t0001 | a0001c0001t0001g0138a0001c0001t0005g0139a0012c0021t0001g0173 | 3 | 236 | 0.0127 | -33 | c.132 others(54): Show |
GLIS1 | ENSG00000174332.6 | transcript | ENST00000628545.2 | protein_coding | 4/10 | chr1 | TogoVar | ||||||
GLMP_chr1_156287688_156300679 | 156300575 | GTCTCGGC others(26): Show |
G | upstream_gene_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 396 | 0.0025 | -33 | c.-49 others(44): Show |
GLMP | ENSG00000198715.13 | transcript | ENST00000362007.6 | protein_coding | 4897 | chr1 | TogoVar | ||||||
GLRA3_chr4_174631920_174834247 | 174705666 | ATATGGCT others(26): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG00738.hp1 HG01099.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(14): Show | a0001c0001t0001g0032a0001c0001t0004g0288a0001c0001t0009g0037others(19): Show | 22 | 296 | 0.0743 | -33 | c.574 others(50): Show |
GLRA3 | ENSG00000145451.13 | transcript | ENST00000274093.8 | protein_coding | 5/9 | chr4 | TogoVar | ||||||
GLS2_chr12_56465952_56493161 | 56486947 | GGTGAGGT others(26): Show |
G | intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0167 | 1 | 362 | 0.0028 | -33 | c.182 others(48): Show |
GLS2 | ENSG00000135423.13 | transcript | ENST00000311966.9 | protein_coding | 1/17 | chr12 | TogoVar | ||||||
GLS_chr2_190875821_190970552 | 190880872 | CGCAGCAG others(26): Show |
C | 5_prime_UTR_variant | MODIFIER | HG00639.hp1 HG01496.hp1 |
a0001 | a0001c0001 | a0001c0001t0035a0001c0001t0036 | a0001c0001t0035g0331a0001c0001t0036g0081 | 2 | 380 | 0.0053 | -33 | c.-19 others(42): Show |
GLS | ENSG00000115419.14 | transcript | ENST00000320717.8 | protein_coding | 1/18 | 165 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
GLT1D1_chr12_128848478_128989968 | 128881544 | AAAAAAAA others(26): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG02055.hp1 HG02109.hp1 others(11): Show |
a0001a0002a0003others(2): Show | a0001c0002a0002c0007a0003c0005others(2): Show | a0001c0002t0007a0001c0002t0012a0002c0007t0001others(7): Show | a0001c0002t0007g0033a0001c0002t0012g0095a0002c0007t0001g0209others(11): Show | 14 | 320 | 0.0438 | -33 | c.217 others(50): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
GLT1D1_chr12_128848478_128989968 | 128881546 | AAAAAAAA others(26): Show |
A | intron_variant | MODIFIER | HG03139.hp2 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0088 | 1 | 320 | 0.0031 | -33 | c.217 others(50): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
GLT8D2_chr12_103983987_104055187 | 104021867 | AAAGAAGA others(26): Show |
A | intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0223 | 1 | 416 | 0.0024 | -33 | c.-16 others(50): Show |
GLT8D2 | ENSG00000120820.13 | transcript | ENST00000360814.9 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
GLT8D2_chr12_103983987_104055187 | 104021923 | AGAAGAAG others(26): Show |
A | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG02976.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(1): Show | a0001c0001t0001g0120a0001c0001t0001g0121a0001c0001t0003g0197others(4): Show | 7 | 416 | 0.0168 | -33 | c.-16 others(50): Show |
GLT8D2 | ENSG00000120820.13 | transcript | ENST00000360814.9 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
GLT8D2_chr12_103983987_104055187 | 104021932 | AGAAGAAG others(26): Show |
A | intron_variant | MODIFIER | HG01952.hp1 HG03831.hp1 HG03834.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0001 | a0001c0001t0003g0174a0001c0001t0003g0315a0002c0002t0001g0224others(1): Show | 4 | 416 | 0.0096 | -33 | c.-16 others(50): Show |
GLT8D2 | ENSG00000120820.13 | transcript | ENST00000360814.9 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
GLT8D2_chr12_103983987_104055187 | 104021977 | GGAAGAGG others(26): Show |
G | intron_variant | MODIFIER | HG01192.hp2 HG01358.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0344a0001c0001t0002g0345 | 2 | 416 | 0.0048 | -33 | c.-16 others(50): Show |
GLT8D2 | ENSG00000120820.13 | transcript | ENST00000360814.9 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
GLT8D2_chr12_103983987_104055187 | 104021990 | GAAGAAGA others(26): Show |
G | intron_variant | MODIFIER | HG00423.hp2 NA19056.hp2 |
a0002 | a0002c0002a0002c0004 | a0002c0002t0001a0002c0004t0001 | a0002c0002t0001g0243a0002c0004t0001g0241 | 2 | 416 | 0.0048 | -33 | c.-16 others(50): Show |
GLT8D2 | ENSG00000120820.13 | transcript | ENST00000360814.9 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
GLT8D2_chr12_103983987_104055187 | 104022025 | AGAAGAAG others(26): Show |
A | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0291 | 1 | 416 | 0.0024 | -33 | c.-16 others(50): Show |
GLT8D2 | ENSG00000120820.13 | transcript | ENST00000360814.9 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
GLYATL1B_chr11_59081307_59099786 | 59092268 | TTTTGGCT others(26): Show |
T | intron_variant | MODIFIER | HG00609.hp1 NA18982.hp2 |
a0006 | a0006c0006 | a0006c0006t0000 | a0006c0006t0000g0027 | 2 | 436 | 0.0046 | -33 | c.187 others(50): Show |
GLYATL1B | ENSG00000255151.2 | transcript | ENST00000527482.2 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
GLYATL1_chr11_58934488_58961406 | 58952000 | TAGTTTCT others(26): Show |
T | intron_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0058 | 1 | 424 | 0.0024 | -33 | c.187 others(50): Show |
GLYATL1 | ENSG00000166840.14 | transcript | ENST00000532726.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
GMDS_chr6_1618806_2250605 | 1652669 | TATAATAT others(26): Show |
T | intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 166 | 0.0060 | -33 | c.988 others(52): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 9/10 | chr6 | TogoVar | ||||||
GMEB2_chr20_63582605_63632101 | 63607182 | CAGAAACA others(26): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00741.hp2 others(14): Show |
a0001 | a0001c0005a0001c0014 | a0001c0005t0005a0001c0005t0010a0001c0005t0012others(1): Show | a0001c0005t0005g0008a0001c0005t0005g0270a0001c0005t0005g0271others(12): Show | 17 | 330 | 0.0515 | -33 | c.132 others(50): Show |
GMEB2 | ENSG00000101216.11 | transcript | ENST00000370077.2 | protein_coding | 2/9 | chr20 | TogoVar | ||||||
GMNC_chr3_190847737_190867694 | 190856222 | TTATTTAT others(26): Show |
T | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 HG03453.hp1 others(3): Show |
a0002a0003a0006 | a0002c0002a0003c0003a0006c0006 | a0002c0002t0003a0003c0003t0010a0006c0006t0010 | a0002c0002t0003g0044a0002c0002t0003g0083a0003c0003t0010g0182others(2): Show | 6 | 488 | 0.0123 | -33 | c.385 others(48): Show |
GMNC | ENSG00000205835.9 | transcript | ENST00000442080.6 | protein_coding | 4/4 | chr3 | TogoVar | ||||||
GMPS_chr3_155865650_155949020 | 155948791 | CACTTTAG others(26): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(304): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(49): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(287): Show | 307 | 380 | 0.8079 | -33 | c.*11 others(46): Show |
GMPS | ENSG00000163655.16 | transcript | ENST00000496455.7 | protein_coding | 4772 | chr3 | TogoVar | ||||||
GNA15_chr19_3131033_3168749 | 3135838 | AAAAAAAT others(26): Show |
A | upstream_gene_variant | MODIFIER | HG01975.hp1 HG02257.hp1 HG02559.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0009a0001c0003t0001 | a0001c0001t0001g0154a0001c0001t0001g0256a0001c0001t0001g0430others(4): Show | 7 | 450 | 0.0156 | -33 | c.-61 others(42): Show |
GNA15 | ENSG00000060558.4 | transcript | ENST00000262958.4 | protein_coding | 194 | chr19 | TogoVar | ||||||
GNG7_chr19_2506219_2707694 | 2654115 | CATGCAGA others(26): Show |
C | intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0121 | 1 | 206 | 0.0049 | -33 | c.-13 others(52): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 1/4 | chr19 | TogoVar | ||||||
GNG8_chr19_46628953_46641202 | 46635592 | TGGAGGAG others(26): Show |
T | intron_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0064 | 1 | 438 | 0.0023 | -33 | c.-44 others(48): Show |
GNG8 | ENSG00000167414.5 | transcript | ENST00000693335.1 | protein_coding | 1/2 | chr19 | TogoVar |