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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MICAL3_chr22_17782649_18029561 | 17877238 | G | GGTTAGGG others(200): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0206 | 1 | 268 | 0.0037 | 207 | c.224 others(226): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17877264 | A | AGGTTAGG others(200): Show |
intron_variant | MODIFIER | HG02809.hp2 HG02965.hp2 |
a0002 | a0002c0005a0002c0016 | a0002c0005t0002a0002c0016t0002 | a0002c0005t0002g0233 a0002c0016t0002g0044 |
2 | 271 | 0.0074 | 207 | c.224 others(226): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17877342 | G | GGGAGGTT others(200): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0201 | 1 | 208 | 0.0048 | 207 | c.224 others(226): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17877369 | G | GGGAAGTT others(200): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0177 | 1 | 159 | 0.0063 | 207 | c.224 others(226): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MID2_chrX_107820866_107936637 | 107910768 | T | TTTTCCTT others(200): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 102 | 0.0098 | 207 | c.107 others(226): Show |
MID2 | ENSG00000080561.14 | transcript | ENST00000262843.11 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
MID2_chrX_107820866_107936637 | 107910788 | C | CTTTCCTT others(200): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 179 | 0.0056 | 207 | c.107 others(226): Show |
MID2 | ENSG00000080561.14 | transcript | ENST00000262843.11 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
MIER2_chr19_300573_349796 | 313044 | A | ACATCAGG others(200): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01074.hp2 HG01099.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0266 a0001c0001t0001g0282 a0001c0001t0001g0291 others(1): Show |
4 | 272 | 0.0147 | 207 | c.807 others(222): Show |
MIER2 | ENSG00000105556.12 | transcript | ENST00000264819.7 | protein_coding | 8/13 | chr19 | TogoVar | |||||||
MPPED1_chr22_43407014_43512848 | 43500173 | A | AGGTGGCA others(200): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0224 | 1 | 226 | 0.0044 | 207 | c.748 others(224): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MYO1F_chr19_8515778_8582442 | 8543870 | G | GTGCTGGT others(200): Show |
intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 331 | 0.0030 | 207 | c.152 others(224): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 14/27 | chr19 | TogoVar | |||||||
NAGK_chr2_71063648_71084808 | 71081020 | T | TTTTATTT others(200): Show |
downstream_gene_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0069 | 1 | 357 | 0.0028 | 207 | c.*25 others(218): Show |
NAGK | ENSG00000124357.13 | transcript | ENST00000244204.11 | protein_coding | 1213 | chr2 | TogoVar | |||||||
NAGK_chr2_71063648_71084808 | 71081020 | T | TTTTATTT others(200): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 HG06807.hp1 |
a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0009 | 2 | 358 | 0.0056 | 207 | c.*25 others(218): Show |
NAGK | ENSG00000124357.13 | transcript | ENST00000244204.11 | protein_coding | 1213 | chr2 | TogoVar | |||||||
NCAPG2_chr7_158626169_158709804 | 158667810 | T | TCCCTTAC others(200): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0328 | 1 | 191 | 0.0052 | 207 | c.148 others(226): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | |||||||
NFILZ_chr19_8625633_8686151 | 8661104 | T | TTCCTTCC others(200): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0004 | a0004c0004 | a0004c0004t0075 | a0004c0004t0075g0200 | 1 | 200 | 0.0050 | 207 | c.-16 others(228): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NLRP13_chr19_55890945_55937336 | 55931710 | A | AAAGAAAG others(200): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0088 | 1 | 250 | 0.0040 | 207 | c.319 others(222): Show |
NLRP13 | ENSG00000173572.12 | transcript | ENST00000342929.4 | protein_coding | 1/10 | chr19 | TogoVar | |||||||
NME8_chr7_37843597_37905397 | 37848185 | A | AGAAGAGG others(200): Show |
upstream_gene_variant | MODIFIER | HG02615.hp1 | a0013 | a0013c0027 | a0013c0027t0001 | a0013c0027t0001g0149 | 1 | 350 | 0.0029 | 207 | c.-78 others(216): Show |
NME8 | ENSG00000086288.12 | transcript | ENST00000199447.9 | protein_coding | 411 | chr7 | TogoVar | |||||||
NOP14_chr4_2932936_2968406 | 2961219 | T | TAGTAACT others(200): Show |
intron_variant | MODIFIER | HG02818.hp2 NA19043.hp2 NA20905.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003 | a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0231 others(1): Show |
4 | 279 | 0.0143 | 207 | c.195 others(224): Show |
NOP14 | ENSG00000087269.16 | transcript | ENST00000416614.7 | protein_coding | 1/17 | chr4 | TogoVar | |||||||
NOTCH1_chr9_136489433_136551048 | 136535545 | C | CGGGGCAA others(200): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0154 | 1 | 256 | 0.0039 | 207 | c.140 others(224): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
NPIPB13_chr16_30217897_30253479 | 30225441 | C | CGCTGAGG others(200): Show |
disruptive_inframe_insertion | MODERATE | HG01255.hp2 | a0022 | a0022c0027 | a0022c0027t0002 | a0022c0027t0002g0131 | 1 | 130 | 0.0077 | 207 | c.100 others(216): Show |
p.Ala others(220): Show |
NPIPB13 | ENSG00000198064.15 | transcript | ENST00000697092.1 | protein_coding | 8/8 | 3747/6292 | 1004/3417 | 335/1138 | chr16 | TogoVar | |||
NRCAM_chr7_108142649_108461436 | 108299114 | A | AAAAAAAA others(200): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0102 | 1 | 35 | 0.0286 | 207 | c.-10 others(228): Show |
NRCAM | ENSG00000091129.22 | transcript | ENST00000379028.8 | protein_coding | 3/32 | chr7 | TogoVar | |||||||
NXN_chr17_794310_984776 | 948895 | C | CCCCCCTG others(200): Show |
intron_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0067 | 1 | 232 | 0.0043 | 207 | c.360 others(226): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 949247 | C | CCTCCTCT others(200): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 240 | 0.0042 | 207 | c.360 others(226): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
OLFM1_chr9_135082668_135126180 | 135096209 | A | ATCCTCCT others(200): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0250 | 1 | 354 | 0.0028 | 207 | c.456 others(222): Show |
OLFM1 | ENSG00000130558.20 | transcript | ENST00000371793.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
OR2T12_chr1_248285139_248308424 | 248306592 | C | CCCTGAGG others(200): Show |
upstream_gene_variant | MODIFIER | HG02083.hp1 HG02132.hp2 HG02523.hp2 others(9): Show |
a0001a0025 | a0001c0001a0025c0024 | a0001c0001t0001a0025c0024t0001 | a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0035 others(1): Show |
12 | 251 | 0.0478 | 207 | c.-34 others(218): Show |
OR2T12 | ENSG00000177201.3 | transcript | ENST00000641276.1 | protein_coding | 3169 | chr1 | TogoVar | |||||||
OTOF_chr2_26452203_26483124 | 26476493 | T | TCCCCACC others(200): Show |
intron_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0077 | 1 | 324 | 0.0031 | 207 | c.436 others(222): Show |
OTOF | ENSG00000115155.19 | transcript | ENST00000339598.8 | protein_coding | 5/28 | chr2 | TogoVar | |||||||
PAK2_chr3_196734857_196837647 | 196811293 | C | CTTCCCTC others(200): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0048 | 1 | 84 | 0.0119 | 207 | c.773 others(222): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PAM16_chr16_4335251_4356321 | 4344737 | A | ATTGTGTG others(200): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 30 | 0.0333 | 207 | c.4-1 others(220): Show |
PAM16 | ENSG00000217930.8 | transcript | ENST00000318059.8 | protein_coding | 1/4 | chr16 | TogoVar | |||||||
PASD1_chrX_151558675_151681739 | 151562909 | G | GGGGGGGC others(200): Show |
upstream_gene_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0193 | 1 | 81 | 0.0123 | 207 | c.-95 others(216): Show |
PASD1 | ENSG00000166049.11 | transcript | ENST00000370357.5 | protein_coding | 765 | chrX | TogoVar | |||||||
PAX1_chr20_21700664_21723481 | 21721646 | T | TATGTATT others(200): Show |
downstream_gene_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 122 | 0.0082 | 207 | c.*70 others(218): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3166 | chr20 | TogoVar | |||||||
PAX1_chr20_21700664_21723481 | 21721646 | T | TATGTATT others(200): Show |
downstream_gene_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 122 | 0.0082 | 207 | c.*70 others(218): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3166 | chr20 | TogoVar | |||||||
PHRF1_chr11_571470_617222 | 585290 | T | TTGAGGTA others(200): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02145.hp1 |
a0016a0017 | a0016c0029a0017c0038 | a0016c0029t0001a0017c0038t0001 | a0016c0029t0001g0216 a0017c0038t0001g0180 |
2 | 275 | 0.0073 | 207 | c.215 others(224): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PIM1_chr6_37165152_37180428 | 37179406 | T | TATATATA others(200): Show |
downstream_gene_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025 | 1 | 24 | 0.0417 | 207 | c.*53 others(218): Show |
PIM1 | ENSG00000137193.14 | transcript | ENST00000373509.6 | protein_coding | 3979 | chr6 | TogoVar | |||||||
PKP3_chr11_389209_409908 | 402148 | C | CGACCCCG others(200): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0007 | a0007c0029 | a0007c0029t0001 | a0007c0029t0001g0117 | 1 | 214 | 0.0047 | 207 | c.173 others(224): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PLD3_chr19_40343695_40383485 | 40377359 | A | ATGGGGGG others(200): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 362 | 0.0028 | 207 | c.118 others(224): Show |
PLD3 | ENSG00000105223.21 | transcript | ENST00000409735.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 141053 | A | ACCCCCTC others(200): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0011 | a0011c0078 | a0011c0078t0055 | a0011c0078t0055g0184 | 1 | 191 | 0.0052 | 207 | c.147 others(224): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PLVAP_chr19_17346455_17382342 | 17349245 | T | TTTCTTTC others(200): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0082 | 1 | 371 | 0.0027 | 207 | c.*31 others(218): Show |
PLVAP | ENSG00000130300.9 | transcript | ENST00000252590.9 | protein_coding | 2209 | chr19 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137518298 | G | GACTCCAC others(200): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02683.hp1 HG03017.hp2 others(2): Show |
a0001 | a0001c0002a0001c0011a0001c0037 | a0001c0002t0001a0001c0011t0001a0001c0037t0001 | a0001c0002t0001g0003 a0001c0002t0001g0009 a0001c0011t0001g0008 others(2): Show |
5 | 182 | 0.0275 | 207 | c.108 others(226): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 11/34 | chr9 | TogoVar | |||||||
PPP2R2D_chr10_131896008_131964834 | 131949712 | G | GGAACATC others(200): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG01192.hp1 others(77): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0003a0001c0001t0004a0001c0001t0010others(23): Show | a0001c0001t0003g0020 a0001c0001t0003g0041 a0001c0001t0003g0075 others(75): Show |
80 | 322 | 0.2484 | 207 | c.108 others(226): Show |
PPP2R2D | ENSG00000175470.20 | transcript | ENST00000455566.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PPP2R2D_chr10_131896008_131964834 | 131952587 | C | CGGGGGGT others(200): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0250 | 1 | 390 | 0.0026 | 207 | c.108 others(226): Show |
PPP2R2D | ENSG00000175470.20 | transcript | ENST00000455566.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PTK6_chr20_63523001_63542376 | 63535752 | A | ACCTGGCC others(200): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0002 | a0001c0002t0032 | a0001c0002t0032g0205 | 1 | 330 | 0.0030 | 207 | c.231 others(222): Show |
PTK6 | ENSG00000101213.7 | transcript | ENST00000542869.3 | protein_coding | 1/7 | chr20 | TogoVar | |||||||
PTK6_chr20_63523001_63542376 | 63535752 | A | ACCTGGCC others(200): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02559.hp1 HG02615.hp2 others(3): Show |
a0001a0003 | a0001c0002a0003c0008 | a0001c0002t0003a0001c0002t0012a0003c0008t0003 | a0001c0002t0003g0188 a0001c0002t0003g0201 a0001c0002t0003g0202 others(3): Show |
6 | 335 | 0.0179 | 207 | c.231 others(222): Show |
PTK6 | ENSG00000101213.7 | transcript | ENST00000542869.3 | protein_coding | 1/7 | chr20 | TogoVar | |||||||
RAB3C_chr5_58578075_58864394 | 58597109 | T | TATATATA others(200): Show |
intron_variant | MODIFIER | HG00408.hp2 HG02615.hp1 HG04115.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0017a0001c0001t0060others(2): Show | a0001c0001t0006g0052 a0001c0001t0017g0170 a0001c0001t0060g0007 others(2): Show |
5 | 65 | 0.0769 | 207 | c.24+ others(224): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RAB3C_chr5_58578075_58864394 | 58597109 | T | TATATATA others(200): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00597.hp2 HG00639.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(12): Show | a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0016 others(20): Show |
23 | 83 | 0.2771 | 207 | c.24+ others(224): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RAB3C_chr5_58578075_58864394 | 58597117 | A | ATACATAA others(200): Show |
intron_variant | MODIFIER | HG02922.hp2 NA18950.hp2 |
a0001 | a0001c0001 | a0001c0001t0037a0001c0001t0049 | a0001c0001t0037g0160 a0001c0001t0049g0209 |
2 | 216 | 0.0093 | 207 | c.24+ others(224): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RAB7B_chr1_205971740_206008395 | 205985737 | C | CCCCACCA others(200): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0061 | 1 | 119 | 0.0084 | 207 | c.397 others(220): Show |
RAB7B | ENSG00000276600.5 | transcript | ENST00000617070.5 | protein_coding | 4/5 | chr1 | TogoVar | |||||||
RAB7B_chr1_205971740_206008395 | 205985737 | C | CCCCACCA others(200): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 119 | 0.0084 | 207 | c.397 others(220): Show |
RAB7B | ENSG00000276600.5 | transcript | ENST00000617070.5 | protein_coding | 4/5 | chr1 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114119840 | T | TCTCTCCA others(200): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 60 | 0.0167 | 207 | c.55+ others(224): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | |||||||
RBCK1_chr20_403299_437139 | 420671 | C | CCCATCCC others(200): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0113 | 1 | 408 | 0.0025 | 207 | c.757 others(222): Show |
RBCK1 | ENSG00000125826.22 | transcript | ENST00000356286.10 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
RBFOX1_chr16_6014024_7718340 | 6637263 | A | AATATATA others(200): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 68 | 0.0147 | 207 | c.-63 others(226): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RFX3_chr9_3213297_3531001 | 3505389 | A | AATATAAA others(200): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0019 | 1 | 178 | 0.0056 | 207 | c.-9+ others(224): Show |
RFX3 | ENSG00000080298.16 | transcript | ENST00000617270.5 | protein_coding | 1/16 | chr9 | TogoVar | |||||||
RFX3_chr9_3213297_3531001 | 3505389 | A | AATATAAA others(200): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01257.hp2 HG02280.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0155 a0001c0001t0003g0153 a0001c0001t0005g0151 others(5): Show |
8 | 185 | 0.0432 | 207 | c.-9+ others(224): Show |
RFX3 | ENSG00000080298.16 | transcript | ENST00000617270.5 | protein_coding | 1/16 | chr9 | TogoVar |