| view | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| PRIMA1_chr14_93713298_93793485 | 93722182 | G | GTAATGGT others(343): Show |
intron_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0043 | 1 | 397 | 0.0025 | 350 | c.360 others(365): Show |
PRIMA1 | ENSG00000175785.13 | transcript | ENST00000393140.6 | protein_coding | 4/4 | chr14 | TogoVar | |||||||
| PRKCZ_chr1_2045411_2190395 | 2106634 | A | AGCCCCTC others(343): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 286 | 0.0035 | 350 | c.335 others(369): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| PRKCZ_chr1_2045411_2190395 | 2106642 | T | TGGTGGGC others(343): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 286 | 0.0035 | 350 | c.335 others(369): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| PSD3_chr8_18522303_19018703 | 18759952 | T | TAGAAATG others(343): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0002 | a0002c0031 | a0002c0031t0023 | a0002c0031t0023g0192 | 1 | 228 | 0.0044 | 350 | c.217 others(369): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 9/15 | chr8 | TogoVar | |||||||
| PTER_chr10_16432010_16518745 | 16506037 | T | TGAGAGAT others(343): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0356 | 1 | 378 | 0.0027 | 350 | c.839 others(365): Show |
PTER | ENSG00000165983.15 | transcript | ENST00000535784.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| PTPRT_chr20_42067756_43194906 | 43175783 | C | CGAGACCC others(343): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0031 | a0001c0031t0001 | a0001c0031t0001g0056 | 1 | 62 | 0.0161 | 350 | c.88+ others(367): Show |
PTPRT | ENSG00000196090.14 | transcript | ENST00000373187.6 | protein_coding | 1/30 | chr20 | TogoVar | |||||||
| RAB11FIP3_chr16_420649_528011 | 458540 | C | CCACAGGG others(343): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0041 | 1 | 295 | 0.0034 | 350 | c.715 others(367): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| RAB11FIP4_chr17_31386675_31543211 | 31515456 | A | ATATTGCC others(343): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0003 | a0001c0003t0061 | a0001c0003t0061g0150 | 1 | 310 | 0.0032 | 350 | c.337 others(367): Show |
RAB11FIP4 | ENSG00000131242.18 | transcript | ENST00000621161.5 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| RAI14_chr5_34651328_34837612 | 34717925 | T | TCCAACCC others(343): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01243.hp1 |
a0001a0002 | a0001c0001a0002c0009 | a0001c0001t0001a0002c0009t0003 | a0001c0001t0001g0010a0002c0009t0003g0244 | 2 | 254 | 0.0079 | 350 | c.36+ others(367): Show |
RAI14 | ENSG00000039560.14 | transcript | ENST00000265109.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| RASA3_chr13_113972783_114137623 | 114119519 | C | CCCTCCCT others(343): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0029 | 1 | 67 | 0.0149 | 350 | c.55+ others(367): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | |||||||
| RBFOX3_chr17_79084345_79616051 | 79512521 | C | CCAGATAC others(343): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0024 | 1 | 154 | 0.0065 | 350 | c.-31 others(371): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 1/14 | chr17 | TogoVar | |||||||
| RBFOX3_chr17_79084345_79616051 | 79513085 | C | CCATCGGG others(343): Show |
intron_variant | MODIFIER | HG02145.hp2 HG03130.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0006a0001c0004t0006 | a0001c0001t0006g0116a0001c0004t0006g0135 | 2 | 154 | 0.0130 | 350 | c.-31 others(371): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 1/14 | chr17 | TogoVar | |||||||
| REEP6_chr19_1486181_1502927 | 1500849 | A | AGGGGGAA others(343): Show |
downstream_gene_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0077 | 1 | 318 | 0.0031 | 350 | c.*36 others(361): Show |
REEP6 | ENSG00000115255.12 | transcript | ENST00000233596.8 | protein_coding | 2923 | chr19 | TogoVar | |||||||
| RERE_chr1_8347404_8822640 | 8441930 | T | TCAATACA others(343): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0103 | 1 | 204 | 0.0049 | 350 | c.120 others(371): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 11/22 | chr1 | TogoVar | |||||||
| RFC1_chr4_39282456_39371362 | 39348424 | A | AAAAAGAA others(343): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0258 | 1 | 276 | 0.0036 | 350 | c.132 others(367): Show |
RFC1 | ENSG00000035928.17 | transcript | ENST00000349703.7 | protein_coding | 2/24 | chr4 | TogoVar | |||||||
| RLN2_chr9_5294864_5309716 | 5307941 | T | TCTACAAA others(343): Show |
upstream_gene_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 452 | 0.0022 | 350 | c.-33 others(361): Show |
RLN2 | ENSG00000107014.9 | transcript | ENST00000381627.4 | protein_coding | 3226 | chr9 | TogoVar | |||||||
| RNF144B_chr6_18382350_18473870 | 18469917 | T | TAAAAATA others(343): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0233 | 1 | 386 | 0.0026 | 350 | c.*48 others(361): Show |
RNF144B | ENSG00000137393.10 | transcript | ENST00000259939.4 | protein_coding | 1048 | chr6 | TogoVar | |||||||
| RNF17_chr13_24759169_24884921 | 24881962 | C | CGATATAT others(343): Show |
downstream_gene_variant | MODIFIER | HG02896.hp1 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0185 | 1 | 426 | 0.0024 | 350 | c.*22 others(361): Show |
RNF17 | ENSG00000132972.19 | transcript | ENST00000255324.10 | protein_coding | 2042 | chr13 | TogoVar | |||||||
| RPA1_chr17_1825005_1905082 | 1833692 | T | TAGAAATA others(343): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0049 | 1 | 402 | 0.0025 | 350 | c.33+ others(365): Show |
RPA1 | ENSG00000132383.12 | transcript | ENST00000254719.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| RPH3AL_chr17_207389_357807 | 235685 | C | CTAACAAG others(343): Show |
intron_variant | MODIFIER | HG01978.hp2 HG02080.hp2 NA18612.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0002g0079a0001c0001t0003g0051a0001c0001t0004g0021others(6): Show | 9 | 133 | 0.0677 | 350 | c.613 others(369): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 7/9 | chr17 | TogoVar | |||||||
| RPH3AL_chr17_207389_357807 | 235955 | T | TTCAAATT others(343): Show |
intron_variant | MODIFIER | NA18940.hp2 NA18959.hp2 NA18983.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0004a0001c0001t0012a0001c0001t0015others(2): Show | a0001c0001t0004g0021a0001c0001t0012g0053a0001c0001t0015g0041others(2): Show | 5 | 133 | 0.0376 | 350 | c.613 others(369): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 7/9 | chr17 | TogoVar | |||||||
| RPH3AL_chr17_207389_357807 | 304923 | C | CACAGGGC others(343): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 133 | 0.0075 | 350 | c.351 others(369): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
| RSU1_chr10_16585611_16822424 | 16645918 | A | ACATATAT others(343): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0141 | 1 | 190 | 0.0053 | 350 | c.731 others(369): Show |
RSU1 | ENSG00000148484.18 | transcript | ENST00000345264.10 | protein_coding | 8/8 | chr10 | TogoVar | |||||||
| RTN4IP1_chr6_106565771_106634498 | 106589237 | G | GGAGGAGG others(343): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0204 | 1 | 396 | 0.0025 | 350 | c.807 others(367): Show |
RTN4IP1 | ENSG00000130347.13 | transcript | ENST00000369063.8 | protein_coding | 6/8 | chr6 | TogoVar | |||||||
| RUNDC3B_chr7_87623398_87837296 | 87626420 | G | GTGTCATA others(343): Show |
upstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0181 | 1 | 202 | 0.0050 | 350 | c.-24 others(361): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 1977 | chr7 | TogoVar | |||||||
| RXRA_chr9_134321455_134445585 | 134444377 | C | CCCTCCTT others(343): Show |
downstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01106.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0024 | a0001c0001t0002g0001a0001c0001t0002g0064a0001c0001t0002g0072others(5): Show | 10 | 232 | 0.0431 | 350 | c.*77 others(361): Show |
RXRA | ENSG00000186350.12 | transcript | ENST00000481739.2 | protein_coding | 3793 | chr9 | TogoVar | |||||||
| SAR1A_chr10_70142289_70175514 | 70154301 | T | TAAGAATG others(343): Show |
intron_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0064 | 1 | 420 | 0.0024 | 350 | c.349 others(365): Show |
SAR1A | ENSG00000079332.16 | transcript | ENST00000373241.9 | protein_coding | 5/6 | chr10 | TogoVar | |||||||
| SCIMP_chr17_5203920_5239860 | 5232378 | A | ATAAACAG others(343): Show |
intron_variant | MODIFIER | NA18939.hp1 NA18964.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 2 | 386 | 0.0052 | 350 | c.21+ others(365): Show |
SCIMP | ENSG00000161929.15 | transcript | ENST00000574081.6 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
| SCLY_chr2_238056001_238104413 | 238098563 | A | AGGACCGC others(343): Show |
3_prime_UTR_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0004 | a0001c0004t0148 | a0001c0004t0148g0011 | 1 | 392 | 0.0026 | 350 | c.*21 others(359): Show |
SCLY | ENSG00000132330.18 | transcript | ENST00000254663.12 | protein_coding | 12/12 | 213 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SCNN1D_chr1_1275436_1297025 | 1289928 | C | CCCCGTGT others(343): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0081 | 1 | 290 | 0.0035 | 350 | c.166 others(367): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| SELENOO_chr22_50196011_50222616 | 50205064 | G | GTGGGTCC others(343): Show |
intron_variant | MODIFIER | HG00597.hp1 HG02129.hp2 HG02738.hp2 others(3): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001 | a0001c0001t0001g0128a0004c0004t0001g0020a0004c0004t0001g0021others(1): Show | 6 | 438 | 0.0137 | 350 | c.555 others(367): Show |
SELENOO | ENSG00000073169.15 | transcript | ENST00000380903.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| SELENOO_chr22_50196011_50222616 | 50205200 | G | GTTTCTGG others(343): Show |
intron_variant | MODIFIER | HG00408.hp2 HG02155.hp1 NA18965.hp2 others(3): Show |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0020a0004c0004t0001g0021a0004c0004t0001g0147others(1): Show | 6 | 438 | 0.0137 | 350 | c.555 others(367): Show |
SELENOO | ENSG00000073169.15 | transcript | ENST00000380903.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| SEMA4D_chr9_89372235_89503113 | 89462954 | G | GGGAGGGG others(343): Show |
intron_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0040 | 1 | 370 | 0.0027 | 350 | c.-30 others(369): Show |
SEMA4D | ENSG00000187764.12 | transcript | ENST00000422704.7 | protein_coding | 1/15 | chr9 | TogoVar | |||||||
| SEMA4D_chr9_89372235_89503113 | 89462954 | G | GGGAGGGG others(343): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0023 | 1 | 370 | 0.0027 | 350 | c.-30 others(369): Show |
SEMA4D | ENSG00000187764.12 | transcript | ENST00000422704.7 | protein_coding | 1/15 | chr9 | TogoVar | |||||||
| SEMA4D_chr9_89372235_89503113 | 89462954 | G | GGGAGGGG others(343): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01891.hp2 HG02559.hp1 others(9): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(7): Show | a0001c0001t0001g0031a0001c0001t0001g0158a0001c0001t0003g0034others(9): Show | 12 | 370 | 0.0324 | 350 | c.-30 others(369): Show |
SEMA4D | ENSG00000187764.12 | transcript | ENST00000422704.7 | protein_coding | 1/15 | chr9 | TogoVar | |||||||
| SERAC1_chr6_158104519_158173262 | 158169681 | A | ATATTGTA others(343): Show |
upstream_gene_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0187 | 1 | 366 | 0.0027 | 350 | c.-15 others(361): Show |
SERAC1 | ENSG00000122335.17 | transcript | ENST00000647468.2 | protein_coding | 1420 | chr6 | TogoVar | |||||||
| SETD6_chr16_58510517_58528842 | 58517773 | G | GCCGAAAA others(343): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0039 | 1 | 426 | 0.0024 | 350 | c.793 others(365): Show |
SETD6 | ENSG00000103037.12 | transcript | ENST00000219315.9 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| SGMS1_chr10_50300600_50628956 | 50479037 | A | AACCCTTC others(343): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01109.hp2 HG01361.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0002g0297a0001c0001t0003g0066a0001c0001t0003g0215others(8): Show | 11 | 312 | 0.0353 | 350 | c.-49 others(371): Show |
SGMS1 | ENSG00000198964.14 | transcript | ENST00000361781.7 | protein_coding | 3/10 | chr10 | TogoVar | |||||||
| SGMS1_chr10_50300600_50628956 | 50479037 | A | AACCCTTC others(343): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0216 | 1 | 312 | 0.0032 | 350 | c.-49 others(371): Show |
SGMS1 | ENSG00000198964.14 | transcript | ENST00000361781.7 | protein_coding | 3/10 | chr10 | TogoVar | |||||||
| SGMS1_chr10_50300600_50628956 | 50479037 | A | AACCCTTC others(343): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0229 | 1 | 312 | 0.0032 | 350 | c.-49 others(371): Show |
SGMS1 | ENSG00000198964.14 | transcript | ENST00000361781.7 | protein_coding | 3/10 | chr10 | TogoVar | |||||||
| SGMS1_chr10_50300600_50628956 | 50479037 | A | AACCCTTC others(343): Show |
intron_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0242 | 1 | 312 | 0.0032 | 350 | c.-49 others(371): Show |
SGMS1 | ENSG00000198964.14 | transcript | ENST00000361781.7 | protein_coding | 3/10 | chr10 | TogoVar | |||||||
| SHISA5_chr3_48462876_48509174 | 48486344 | G | GTATTATA others(343): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 290 | 0.0035 | 350 | c.234 others(367): Show |
SHISA5 | ENSG00000164054.17 | transcript | ENST00000296444.7 | protein_coding | 2/5 | chr3 | TogoVar | |||||||
| SIGIRR_chr11_400716_419999 | 401971 | G | GGCCCCGC others(343): Show |
downstream_gene_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 242 | 0.0041 | 350 | c.*39 others(361): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 3744 | chr11 | TogoVar | |||||||
| SLC22A2_chr6_160211755_160263821 | 160235495 | G | GTTTTTGC others(343): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 310 | 0.0032 | 350 | c.150 others(369): Show |
SLC22A2 | ENSG00000112499.13 | transcript | ENST00000366953.8 | protein_coding | 9/10 | chr6 | TogoVar | |||||||
| SLC22A2_chr6_160211755_160263821 | 160235495 | G | GTTTTTGC others(343): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(263): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(20): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(187): Show | 266 | 310 | 0.8581 | 350 | c.150 others(369): Show |
SLC22A2 | ENSG00000112499.13 | transcript | ENST00000366953.8 | protein_coding | 9/10 | chr6 | TogoVar | |||||||
| SLC44A1_chr9_105239651_105402346 | 105318764 | A | AATGTTTT others(343): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0002 | a0002c0002 | a0002c0002t0020 | a0002c0002t0020g0126 | 1 | 142 | 0.0070 | 350 | c.269 others(367): Show |
SLC44A1 | ENSG00000070214.17 | transcript | ENST00000374720.8 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| SLC9A3_chr5_465456_529449 | 495377 | G | GCTCCCCG others(343): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01358.hp1 HG02071.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021a0001c0001t0001g0029a0001c0001t0001g0031 | 3 | 218 | 0.0138 | 350 | c.212 others(367): Show |
SLC9A3 | ENSG00000066230.12 | transcript | ENST00000264938.8 | protein_coding | 1/16 | chr5 | TogoVar | |||||||
| SLC9A3_chr5_465456_529449 | 495377 | G | GCTCCCCG others(343): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0006 | a0006c0015 | a0006c0015t0007 | a0006c0015t0007g0004 | 1 | 218 | 0.0046 | 350 | c.212 others(367): Show |
SLC9A3 | ENSG00000066230.12 | transcript | ENST00000264938.8 | protein_coding | 1/16 | chr5 | TogoVar | |||||||
| SLC9A3_chr5_465456_529449 | 495408 | C | CTCCACTC others(343): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 218 | 0.0046 | 350 | c.212 others(367): Show |
SLC9A3 | ENSG00000066230.12 | transcript | ENST00000264938.8 | protein_coding | 1/16 | chr5 | TogoVar | |||||||
| SLCO3A1_chr15_91848708_92170903 | 92143422 | A | ATTATATA others(343): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0002 | a0002c0005 | a0002c0005t0006 | a0002c0005t0006g0173 | 1 | 190 | 0.0053 | 350 | c.151 others(369): Show |
SLCO3A1 | ENSG00000176463.14 | transcript | ENST00000318445.11 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |