| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| NCOR2_chr12_124319415_124572612 | 124438778 | C | CAGAGAGA others(461): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00621.hp2 HG01109.hp2 others(1): Show |
a0001a0002 | a0001c0026a0001c0035a0002c0001others(1): Show | a0001c0026t0002a0001c0035t0005a0002c0001t0015others(1): Show | a0001c0026t0002g0040 a0001c0035t0005g0156 a0002c0001t0015g0180 others(1): Show |
4 | 234 | 0.0171 | 468 | c.816 others(483): Show |
NCOR2 | ENSG00000196498.15 | transcript | ENST00000405201.6 | protein_coding | 9/48 | chr12 | TogoVar | |||||||
| NDUFV3_chr21_42888309_42918299 | 42894401 | T | TAATATAA others(461): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0135 | 1 | 348 | 0.0029 | 468 | c.48+ others(483): Show |
NDUFV3 | ENSG00000160194.18 | transcript | ENST00000354250.7 | protein_coding | 1/3 | chr21 | TogoVar | |||||||
| NEU4_chr2_241804193_241822413 | 241806154 | A | ACCCTCCC others(461): Show |
upstream_gene_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 319 | 0.0031 | 468 | c.-31 others(479): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3038 | chr2 | TogoVar | |||||||
| NHLRC4_chr16_562005_574495 | 571108 | T | TAGCCTGT others(461): Show |
downstream_gene_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 424 | 0.0024 | 468 | c.*26 others(479): Show |
NHLRC4 | ENSG00000257108.2 | transcript | ENST00000424439.3 | protein_coding | 1614 | chr16 | TogoVar | |||||||
| NHLRC4_chr16_562005_574495 | 571108 | T | TGGCTAGC others(461): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 HG01934.hp1 HG02622.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 424 | 0.0071 | 468 | c.*26 others(479): Show |
NHLRC4 | ENSG00000257108.2 | transcript | ENST00000424439.3 | protein_coding | 1614 | chr16 | TogoVar | |||||||
| NHLRC4_chr16_562005_574495 | 571108 | T | TGTGTGTG others(461): Show |
downstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 424 | 0.0024 | 468 | c.*26 others(479): Show |
NHLRC4 | ENSG00000257108.2 | transcript | ENST00000424439.3 | protein_coding | 1614 | chr16 | TogoVar | |||||||
| NOTCH1_chr9_136489433_136551048 | 136535607 | G | GGTGCAGG others(461): Show |
intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0074 | 1 | 324 | 0.0031 | 468 | c.140 others(485): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
| NPBWR2_chr20_64098802_64112565 | 64105613 | G | GGGTGGGC others(461): Show |
3_prime_UTR_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0002 | a0001c0002t0041 | a0001c0002t0041g0089 | 1 | 355 | 0.0028 | 468 | c.*21 others(477): Show |
NPBWR2 | ENSG00000125522.4 | transcript | ENST00000684052.1 | protein_coding | 2/2 | 216 | chr20 | TogoVar | ||||||
| NRDE2_chr14_90262860_90336941 | 90300885 | G | GGGGAGGG others(461): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0002 | a0002c0002 | a0002c0002t0050 | a0002c0002t0050g0072 | 1 | 344 | 0.0029 | 468 | c.154 others(485): Show |
NRDE2 | ENSG00000119720.18 | transcript | ENST00000354366.8 | protein_coding | 7/13 | chr14 | TogoVar | |||||||
| NRXN2_chr11_64601174_64728197 | 64706148 | A | AGTATATA others(461): Show |
intron_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0145 | 1 | 308 | 0.0033 | 468 | c.730 others(485): Show |
NRXN2 | ENSG00000110076.21 | transcript | ENST00000265459.11 | protein_coding | 2/22 | chr11 | TogoVar | |||||||
| NTN3_chr16_2466297_2479145 | 2466524 | A | ATACAAAA others(461): Show |
upstream_gene_variant | MODIFIER | HG02451.hp2 HG02717.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0001 a0001c0001t0004g0001 |
2 | 300 | 0.0067 | 468 | c.-51 others(479): Show |
NTN3 | ENSG00000162068.2 | transcript | ENST00000293973.2 | protein_coding | 4772 | chr16 | TogoVar | |||||||
| OPHN1_chrX_68037344_68438495 | 68326860 | G | GGGGGGGG others(461): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01255.hp1 HG02071.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0071 a0001c0001t0001g0077 a0001c0001t0002g0125 others(4): Show |
7 | 155 | 0.0452 | 468 | c.155 others(487): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | TogoVar | |||||||
| OPHN1_chrX_68037344_68438495 | 68326860 | G | GGGGGGGG others(461): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0129 | 1 | 155 | 0.0065 | 468 | c.155 others(487): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | TogoVar | |||||||
| OPHN1_chrX_68037344_68438495 | 68326860 | G | GGGGGGGT others(461): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 155 | 0.0065 | 468 | c.155 others(487): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | TogoVar | |||||||
| OPHN1_chrX_68037344_68438495 | 68326860 | G | GGGGGGGT others(461): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0037 | 1 | 155 | 0.0065 | 468 | c.155 others(487): Show |
OPHN1 | ENSG00000079482.14 | transcript | ENST00000355520.6 | protein_coding | 2/24 | chrX | TogoVar | |||||||
| OPRL1_chr20_64075082_64105633 | 64105613 | G | GGGTGGGC others(461): Show |
downstream_gene_variant | MODIFIER | HG01167.hp1 HG02895.hp1 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0009 a0001c0001t0009g0010 |
2 | 66 | 0.0303 | 468 | c.*68 others(479): Show |
OPRL1 | ENSG00000125510.18 | transcript | ENST00000336866.7 | protein_coding | 4981 | chr20 | TogoVar | |||||||
| OTOG_chr11_17542259_17651044 | 17552549 | C | CCCCACCT others(461): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0088 | a0088c0115 | a0088c0115t0001 | a0088c0115t0001g0154 | 1 | 268 | 0.0037 | 468 | c.292 others(483): Show |
OTOG | ENSG00000188162.12 | transcript | ENST00000399397.6 | protein_coding | 4/55 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| OTOG_chr11_17542259_17651044 | 17552549 | C | CCCCACCT others(461): Show |
intron_variant | MODIFIER | NA19063.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0228 | 1 | 268 | 0.0037 | 468 | c.292 others(483): Show |
OTOG | ENSG00000188162.12 | transcript | ENST00000399397.6 | protein_coding | 4/55 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| OTOG_chr11_17542259_17651044 | 17552549 | C | CCCCACCT others(461): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0084 | a0084c0045 | a0084c0045t0001 | a0084c0045t0001g0240 | 1 | 268 | 0.0037 | 468 | c.292 others(483): Show |
OTOG | ENSG00000188162.12 | transcript | ENST00000399397.6 | protein_coding | 4/55 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| PCED1A_chr20_2830314_2845655 | 2842844 | C | CGATAGAT others(461): Show |
upstream_gene_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 436 | 0.0023 | 468 | c.-26 others(479): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2190 | chr20 | TogoVar | |||||||
| PCED1A_chr20_2830314_2845655 | 2842844 | C | CGATAGAT others(461): Show |
upstream_gene_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 436 | 0.0023 | 468 | c.-26 others(479): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2190 | chr20 | TogoVar | |||||||
| PCED1A_chr20_2830314_2845655 | 2842860 | C | CTATCGAT others(461): Show |
upstream_gene_variant | MODIFIER | HG02647.hp2 | a0004 | a0004c0007 | a0004c0007t0002 | a0004c0007t0002g0021 | 1 | 436 | 0.0023 | 468 | c.-26 others(479): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2206 | chr20 | TogoVar | |||||||
| PCED1A_chr20_2830314_2845655 | 2842868 | A | AGATAGAT others(461): Show |
upstream_gene_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 436 | 0.0023 | 468 | c.-26 others(479): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2214 | chr20 | TogoVar | |||||||
| PDIA6_chr2_10778391_10817785 | 10806648 | A | AAGAAAGA others(461): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0233 | 1 | 342 | 0.0029 | 468 | c.20- others(483): Show |
PDIA6 | ENSG00000143870.13 | transcript | ENST00000272227.8 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
| PERM1_chr1_970198_987093 | 976810 | G | GCAACCCC others(461): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 408 | 0.0025 | 468 | c.215 others(485): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
| PERM1_chr1_970198_987093 | 976810 | G | GCAACCCC others(461): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 408 | 0.0025 | 468 | c.215 others(485): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
| PERM1_chr1_970198_987093 | 976811 | C | CAACCCCG others(461): Show |
intron_variant | MODIFIER | NA19002.hp1 NA19064.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 2 | 408 | 0.0049 | 468 | c.215 others(485): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
| PIGQ_chr16_564968_589109 | 571108 | T | TAGCCTGT others(461): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0122 | 1 | 408 | 0.0025 | 468 | c.-10 others(485): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 1/10 | chr16 | TogoVar | |||||||
| PIGQ_chr16_564968_589109 | 571108 | T | TGGCTAGC others(461): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01515.hp1 HG01934.hp1 others(1): Show |
a0002 | a0002c0001a0002c0006 | a0002c0001t0001a0002c0006t0001 | a0002c0001t0001g0141 a0002c0001t0001g0145 a0002c0001t0001g0147 others(1): Show |
4 | 408 | 0.0098 | 468 | c.-10 others(485): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 1/10 | chr16 | TogoVar | |||||||
| PIGQ_chr16_564968_589109 | 571108 | T | TGGCTAGC others(461): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0002 | a0002c0001 | a0002c0001t0005 | a0002c0001t0005g0150 | 1 | 408 | 0.0025 | 468 | c.-10 others(485): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 1/10 | chr16 | TogoVar | |||||||
| PIGQ_chr16_564968_589109 | 571108 | T | TGTGTGTG others(461): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0203 | 1 | 408 | 0.0025 | 468 | c.-10 others(485): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 1/10 | chr16 | TogoVar | |||||||
| PLEKHN1_chr1_961482_980865 | 976810 | G | GCAACCCC others(461): Show |
downstream_gene_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 422 | 0.0024 | 468 | c.*22 others(479): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 946 | chr1 | TogoVar | |||||||
| PLEKHN1_chr1_961482_980865 | 976811 | C | CAACCCCG others(461): Show |
downstream_gene_variant | MODIFIER | NA19002.hp1 NA19064.hp2 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0001 a0001c0007t0001g0001 |
2 | 422 | 0.0047 | 468 | c.*22 others(479): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 947 | chr1 | TogoVar | |||||||
| POLG_chr15_89311320_89339824 | 89325275 | A | AGAGTGAG others(461): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0059 | 1 | 398 | 0.0025 | 468 | c.194 others(485): Show |
POLG | ENSG00000140521.18 | transcript | ENST00000268124.11 | protein_coding | 10/22 | chr15 | TogoVar | |||||||
| POU6F2_chr7_38972909_39473601 | 39040063 | T | TTATATAT others(461): Show |
intron_variant | MODIFIER | HG00741.hp2 HG03195.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0019 | a0001c0001t0002g0131 a0001c0002t0019g0052 |
2 | 170 | 0.0118 | 468 | c.106 others(487): Show |
POU6F2 | ENSG00000106536.21 | transcript | ENST00000518318.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| PRDM16_chr1_3064203_3443621 | 3162937 | G | GCGCAGAA others(461): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0002 | a0002c0003 | a0002c0003t0009 | a0002c0003t0009g0078 | 1 | 210 | 0.0048 | 468 | c.38- others(485): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| PRKCA_chr17_66297613_66815743 | 66799088 | G | GTGGTGGT others(461): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0073 | 1 | 178 | 0.0056 | 468 | c.185 others(487): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| PRKCZ_chr1_2045411_2190395 | 2106547 | C | TGTGTCAC others(461): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0248 | 1 | 286 | 0.0035 | 468 | c.335 others(487): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | chr1 | TogoVar | |||||||
| PRKCZ_chr1_2045411_2190395 | 2122952 | G | GGTAGTTA others(461): Show |
intron_variant | MODIFIER | HG01243.hp1 HG03540.hp2 |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0002 | a0001c0003t0001g0126 a0001c0003t0002g0020 |
2 | 286 | 0.0070 | 468 | c.335 others(487): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| PRKCZ_chr1_2045411_2190395 | 2123271 | C | CATGGCTG others(461): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0017 | 1 | 286 | 0.0035 | 468 | c.335 others(487): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | chr1 | TogoVar | |||||||
| PRKCZ_chr1_2045411_2190395 | 2123797 | G | GTCAAGGT others(461): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0058 | 1 | 286 | 0.0035 | 468 | c.335 others(487): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| RAB11FIP3_chr16_420649_528011 | 458567 | G | GTTCAGTG others(461): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0050 | 1 | 295 | 0.0034 | 468 | c.715 others(485): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| RAB11FIP3_chr16_420649_528011 | 492394 | C | CCCCGGGA others(461): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 295 | 0.0034 | 468 | c.126 others(487): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| RAP1GAP2_chr17_2791438_3042741 | 2831065 | T | TCCTTCCC others(461): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0004 | a0001c0004t0008 | a0001c0004t0008g0031 | 1 | 218 | 0.0046 | 468 | c.80+ others(485): Show |
RAP1GAP2 | ENSG00000132359.17 | transcript | ENST00000254695.13 | protein_coding | 2/24 | chr17 | TogoVar | |||||||
| RASA3_chr13_113972783_114137623 | 114062673 | C | CCGCACGC others(461): Show |
intron_variant | MODIFIER | HG01993.hp2 NA18954.hp2 NA18971.hp1 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0020 a0001c0003t0003g0021 a0001c0003t0003g0030 |
3 | 67 | 0.0448 | 468 | c.174 others(487): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 2/23 | chr13 | TogoVar | |||||||
| RETNLB_chr3_108750638_108762410 | 108759494 | T | TGTATGTA others(461): Show |
upstream_gene_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0006 | 1 | 452 | 0.0022 | 468 | c.-23 others(479): Show |
RETNLB | ENSG00000163515.7 | transcript | ENST00000295755.7 | protein_coding | 2085 | chr3 | TogoVar | |||||||
| RFX3_chr9_3213297_3531001 | 3504671 | C | CATATAAA others(461): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0125 | 1 | 196 | 0.0051 | 468 | c.-9+ others(485): Show |
RFX3 | ENSG00000080298.16 | transcript | ENST00000617270.5 | protein_coding | 1/16 | chr9 | TogoVar | |||||||
| RFX3_chr9_3213297_3531001 | 3504671 | C | CATATAAA others(461): Show |
intron_variant | MODIFIER | HG02165.hp2 HG02647.hp2 HG02976.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(5): Show | a0001c0001t0002g0092 a0001c0001t0004g0063 a0001c0001t0006g0164 others(5): Show |
8 | 196 | 0.0408 | 468 | c.-9+ others(485): Show |
RFX3 | ENSG00000080298.16 | transcript | ENST00000617270.5 | protein_coding | 1/16 | chr9 | TogoVar | |||||||
| RFX3_chr9_3213297_3531001 | 3504671 | C | CATATAAA others(461): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0054 | a0001c0001t0054g0163 | 1 | 196 | 0.0051 | 468 | c.-9+ others(485): Show |
RFX3 | ENSG00000080298.16 | transcript | ENST00000617270.5 | protein_coding | 1/16 | chr9 | TogoVar | |||||||
| RFX3_chr9_3213297_3531001 | 3504671 | C | CATATAAA others(461): Show |
intron_variant | MODIFIER | HG03195.hp2 NA19076.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0170 a0001c0001t0002g0119 |
2 | 196 | 0.0102 | 468 | c.-9+ others(485): Show |
RFX3 | ENSG00000080298.16 | transcript | ENST00000617270.5 | protein_coding | 1/16 | chr9 | TogoVar |