| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| FTCD_chr21_46131779_46160579 | 46144485 | T | TCCCCTTT others(743): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0111 | 1 | 230 | 0.0044 | 750 | c.126 others(767): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 10/13 | chr21 | TogoVar | ||||||
| GTPBP6_chrX_299759_323796 | 322461 | G | GCCAGCAT others(743): Show |
upstream_gene_variant | MODIFIER | NA19058.hp2 | a0003 | a0003c0038 | a0003c0038t0001 | a0003c0038t0001g0097 | 1 | 155 | 0.0065 | 750 | c.-36 others(761): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 3666 | chrX | TogoVar | ||||||
| GTPBP6_chrX_299759_323796 | 322498 | A | AAAAAAAA others(743): Show |
upstream_gene_variant | MODIFIER | HG01515.hp1 HG01993.hp2 HG02300.hp1 |
a0003 | a0003c0004a0003c0039 | a0003c0004t0002a0003c0039t0002 | a0003c0004t0002g0093a0003c0004t0002g0096a0003c0039t0002g0094 | 3 | 155 | 0.0194 | 750 | c.-37 others(761): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 3703 | chrX | TogoVar | ||||||
| GTPBP6_chrX_299759_323796 | 322499 | A | AAAAAAAA others(743): Show |
upstream_gene_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0059 | 1 | 155 | 0.0065 | 750 | c.-37 others(761): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 3704 | chrX | TogoVar | ||||||
| GTPBP6_chrX_299759_323796 | 322499 | A | AAAAAAAA others(743): Show |
upstream_gene_variant | MODIFIER | HG02486.hp1 | a0015 | a0015c0022 | a0015c0022t0004 | a0015c0022t0004g0103 | 1 | 155 | 0.0065 | 750 | c.-37 others(761): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 3704 | chrX | TogoVar | ||||||
| GTPBP6_chrX_299759_323796 | 322499 | A | AAAAAAAA others(743): Show |
upstream_gene_variant | MODIFIER | NA18957.hp2 | a0011 | a0011c0014 | a0011c0014t0001 | a0011c0014t0001g0007 | 1 | 155 | 0.0065 | 750 | c.-37 others(761): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 3704 | chrX | TogoVar | ||||||
| GTPBP6_chrX_299759_323796 | 322517 | G | GAAAAGAA others(743): Show |
upstream_gene_variant | MODIFIER | HG00735.hp1 | a0004 | a0004c0007 | a0004c0007t0002 | a0004c0007t0002g0014 | 1 | 155 | 0.0065 | 750 | c.-37 others(761): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 3722 | chrX | TogoVar | ||||||
| HIVEP3_chr1_41501365_41923922 | 41544953 | T | TCTACCAC others(743): Show |
intron_variant | MODIFIER | HG02451.hp1 NA18906.hp2 |
a0009 | a0009c0009 | a0009c0009t0016a0009c0009t0046 | a0009c0009t0016g0079a0009c0009t0046g0086 | 2 | 134 | 0.0149 | 750 | c.520 others(771): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 5/8 | chr1 | TogoVar | ||||||
| ICA1_chr7_8108184_8267167 | 8152669 | C | CATTATCT others(743): Show |
intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0051 | 1 | 274 | 0.0037 | 750 | c.804 others(767): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | ||||||
| IFNAR1_chr21_33319970_33364864 | 33322329 | T | TGGAATAT others(743): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0213 | 1 | 323 | 0.0031 | 750 | c.-27 others(761): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2640 | chr21 | TogoVar | ||||||
| INS_chr11_2154779_2166209 | 2161650 | G | GACCCCCT others(743): Show |
upstream_gene_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 376 | 0.0027 | 750 | c.-50 others(759): Show |
INS | ENSG00000254647.7 | transcript | ENST00000381330.5 | protein_coding | 442 | chr11 | TogoVar | ||||||
| KDM4B_chr19_4964113_5158598 | 5131563 | A | AGGCAGGG others(743): Show |
intron_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0216 | 1 | 270 | 0.0037 | 750 | c.178 others(765): Show |
KDM4B | ENSG00000127663.15 | transcript | ENST00000159111.9 | protein_coding | 12/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| LAMA5_chr20_62304065_62372312 | 62349826 | T | TGGCGGTG others(743): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0041 | a0041c0102 | a0041c0102t0001 | a0041c0102t0001g0103 | 1 | 186 | 0.0054 | 750 | c.956 others(767): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | ||||||
| LAMA5_chr20_62304065_62372312 | 62360489 | T | TGGGTGGA others(743): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0012 | a0012c0021 | a0012c0021t0001 | a0012c0021t0001g0073 | 1 | 186 | 0.0054 | 750 | c.450 others(767): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 2/79 | chr20 | TogoVar | ||||||
| LMF1_chr16_848634_975984 | 857698 | C | CGGGTGTG others(743): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0003 | a0003c0009 | a0003c0009t0001 | a0003c0009t0001g0001 | 1 | 294 | 0.0034 | 750 | c.153 others(769): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
| LRRC14_chr8_144512992_144530172 | 144513800 | T | TGAGGAGG others(743): Show |
upstream_gene_variant | MODIFIER | HG02897.hp1 HG02976.hp1 HG02976.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0010 | a0001c0001t0009g0004a0001c0001t0010g0001 | 5 | 414 | 0.0121 | 750 | c.-43 others(761): Show |
LRRC14 | ENSG00000160959.8 | transcript | ENST00000292524.6 | protein_coding | 4191 | chr8 | TogoVar | ||||||
| MEGF6_chr1_3482951_3616508 | 3583762 | A | ACCAGACA others(743): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02723.hp2 |
a0076a0097 | a0076c0091a0097c0054 | a0076c0091t0005a0097c0054t0049 | a0076c0091t0005g0263a0097c0054t0049g0007 | 2 | 292 | 0.0069 | 750 | c.377 others(767): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | ||||||
| MFSD3_chr8_144504070_144516213 | 144513800 | T | TGAGGAGG others(743): Show |
downstream_gene_variant | MODIFIER | HG02976.hp1 HG02976.hp2 HG03130.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 4 | 400 | 0.0100 | 750 | c.*26 others(761): Show |
MFSD3 | ENSG00000167700.9 | transcript | ENST00000301327.5 | protein_coding | 2588 | chr8 | TogoVar | ||||||
| MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(743): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0002 | a0002c0017 | a0002c0017t0002 | a0002c0017t0002g0274 | 1 | 278 | 0.0036 | 750 | c.115 others(767): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(743): Show |
intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0136 | 1 | 278 | 0.0036 | 750 | c.115 others(767): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(743): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0174 | 1 | 278 | 0.0036 | 750 | c.115 others(767): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| MRPL28_chr16_361969_375538 | 370390 | G | GCTACCCC others(743): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0098 | 1 | 394 | 0.0025 | 750 | c.-8+ others(763): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | ||||||
| MSR1_chr8_16102881_16197651 | 16189580 | T | TTTTATAT others(743): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 330 | 0.0030 | 750 | c.-5+ others(765): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | ||||||
| MUC4_chr3_195741771_195816929 | 195776188 | A | AGTCATAC others(743): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0006 | a0006c0019 | a0006c0019t0002 | a0006c0019t0002g0013 | 1 | 249 | 0.0040 | 750 | c.129 others(771): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | ||||||
| MUC5AC_chr11_1152953_1206138 | 1188533 | C | CCTCCACT others(743): Show |
disruptive_inframe_insertion | MODERATE | HG00733.hp2 | a0027 | a0027c0039 | a0027c0039t0002 | a0027c0039t0002g0047 | 1 | 292 | 0.0034 | 750 | c.105 others(761): Show |
p.Thr others(765): Show |
MUC5AC | ENSG00000215182.8 | transcript | ENST00000621226.2 | protein_coding | 31/49 | 10555/17448 | 10508/16965 | 3503/5654 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| MUC5AC_chr11_1152953_1206138 | 1188533 | C | CCTCCACT others(743): Show |
disruptive_inframe_insertion | MODERATE | HG00099.hp2 HG01099.hp2 HG01168.hp2 others(9): Show |
a0009a0010a0016others(4): Show | a0009c0020a0010c0019a0016c0029others(4): Show | a0009c0020t0002a0010c0019t0002a0016c0029t0002others(4): Show | a0009c0020t0002g0008a0010c0019t0002g0007a0016c0029t0002g0017others(5): Show | 12 | 292 | 0.0411 | 750 | c.105 others(761): Show |
p.Thr others(765): Show |
MUC5AC | ENSG00000215182.8 | transcript | ENST00000621226.2 | protein_coding | 31/49 | 10555/17448 | 10508/16965 | 3503/5654 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| MUSK_chr9_110663791_110811558 | 110690423 | A | AATATATA others(743): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0091 | 1 | 326 | 0.0031 | 750 | c.358 others(767): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| NOTCH1_chr9_136489433_136551048 | 136535462 | G | GGTGGGGG others(743): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02922.hp2 HG03516.hp1 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0012a0001c0001t0019a0001c0005t0008 | a0001c0001t0012g0001a0001c0001t0019g0005a0001c0005t0008g0023 | 4 | 324 | 0.0124 | 750 | c.140 others(767): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | ||||||
| NRIP1_chr21_14956235_15070000 | 15031067 | A | ATGTGTAT others(743): Show |
intron_variant | MODIFIER | NA18990.hp2 NA18997.hp2 NA19083.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0165a0001c0001t0001g0166a0001c0001t0001g0167others(3): Show | 6 | 398 | 0.0151 | 750 | c.-45 others(771): Show |
NRIP1 | ENSG00000180530.11 | transcript | ENST00000318948.7 | protein_coding | 2/3 | chr21 | TogoVar | ||||||
| OSGIN1_chr16_83948240_83971332 | 83950915 | G | GCACACAC others(743): Show |
upstream_gene_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0070 | 1 | 350 | 0.0029 | 750 | c.-24 others(761): Show |
OSGIN1 | ENSG00000140961.14 | transcript | ENST00000393306.6 | protein_coding | 2324 | chr16 | TogoVar | ||||||
| OSGIN1_chr16_83948240_83971332 | 83950915 | G | GCACACAC others(743): Show |
upstream_gene_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 350 | 0.0029 | 750 | c.-24 others(761): Show |
OSGIN1 | ENSG00000140961.14 | transcript | ENST00000393306.6 | protein_coding | 2324 | chr16 | TogoVar | ||||||
| P2RX5_chr17_3668227_3701155 | 3686319 | G | GAGAACAG others(743): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0230 | 1 | 362 | 0.0028 | 750 | c.981 others(767): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | ||||||
| PAX1_chr20_21700664_21723481 | 21721646 | T | TATGTATT others(743): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0089 | 1 | 400 | 0.0025 | 750 | c.*70 others(761): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3166 | chr20 | TogoVar | ||||||
| PDCD6_chr5_266646_319974 | 318069 | T | TCCCTTGC others(743): Show |
downstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 360 | 0.0028 | 750 | c.*35 others(761): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 3096 | chr5 | TogoVar | ||||||
| PERM1_chr1_970198_987093 | 976715 | C | CCAACCCC others(743): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01106.hp2 HG02486.hp2 |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0001a0006c0008t0001 | a0001c0001t0001g0165a0006c0008t0001g0089a0006c0008t0001g0091 | 3 | 408 | 0.0074 | 750 | c.215 others(765): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
| PERM1_chr1_970198_987093 | 976715 | C | CCAACCCC others(743): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0028 | a0001c0028t0004 | a0001c0028t0004g0080 | 1 | 408 | 0.0025 | 750 | c.215 others(765): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
| PFKFB3_chr10_6197932_6240532 | 6210533 | T | TGTGTTTT others(743): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0244 | 1 | 432 | 0.0023 | 750 | c.77- others(765): Show |
PFKFB3 | ENSG00000170525.21 | transcript | ENST00000379775.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| PGAP6_chr16_365788_386978 | 370390 | G | GCTACCCC others(743): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0017 | 1 | 376 | 0.0027 | 750 | c.*15 others(761): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 397 | chr16 | TogoVar | ||||||
| PHACTR3_chr20_59599540_59852711 | 59822000 | A | AATCCCAC others(743): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0156 | 1 | 250 | 0.0040 | 750 | c.132 others(771): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| PHF21B_chr22_44876162_45015005 | 44984159 | C | CACCACCA others(743): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0111 | 1 | 300 | 0.0033 | 750 | c.120 others(769): Show |
PHF21B | ENSG00000056487.17 | transcript | ENST00000313237.10 | protein_coding | 2/12 | chr22 | TogoVar | ||||||
| PIP5K1C_chr19_3625183_3705468 | 3649163 | A | ATGCCCAC others(743): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0130 | 1 | 332 | 0.0030 | 750 | c.112 others(767): Show |
PIP5K1C | ENSG00000186111.11 | transcript | ENST00000335312.8 | protein_coding | 8/17 | chr19 | TogoVar | ||||||
| PKP3_chr11_389209_409908 | 401808 | G | GGCCCCGC others(743): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0149 | 1 | 216 | 0.0046 | 750 | c.173 others(769): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | chr11 | TogoVar | ||||||
| PLCL2_chr3_16879955_17095604 | 17063256 | T | TCCTCCCT others(743): Show |
intron_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0174 | 1 | 250 | 0.0040 | 750 | c.309 others(769): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| PLEKHN1_chr1_961482_980865 | 976715 | C | CCAACCCC others(743): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 HG01074.hp1 HG01106.hp1 others(1): Show |
a0001a0014a0022 | a0001c0001a0014c0040a0022c0034 | a0001c0001t0001a0014c0040t0001a0022c0034t0008 | a0001c0001t0001g0001a0001c0001t0001g0053a0014c0040t0001g0034others(1): Show | 4 | 422 | 0.0095 | 750 | c.*21 others(761): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 851 | chr1 | TogoVar | ||||||
| PLEKHN1_chr1_961482_980865 | 976715 | C | CCAACCCC others(743): Show |
downstream_gene_variant | MODIFIER | HG00738.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0010 | 1 | 422 | 0.0024 | 750 | c.*21 others(761): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 851 | chr1 | TogoVar | ||||||
| PRIMPOL_chr4_184644738_184699952 | 184676452 | T | TCTCCCTT others(743): Show |
intron_variant | MODIFIER | NA18951.hp2 NA18971.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190a0001c0001t0001g0215 | 2 | 328 | 0.0061 | 750 | c.845 others(767): Show |
PRIMPOL | ENSG00000164306.11 | transcript | ENST00000314970.11 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PRKCZ_chr1_2045411_2190395 | 2124246 | G | GGTAGTTA others(743): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0034 | 1 | 286 | 0.0035 | 750 | c.335 others(769): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PRKX_chrX_3599340_3718649 | 3639300 | G | GGGGGGTG others(743): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0079 | a0001c0001t0079g0045 | 1 | 227 | 0.0044 | 750 | c.719 others(767): Show |
PRKX | ENSG00000183943.6 | transcript | ENST00000262848.6 | protein_coding | 4/8 | chrX | TogoVar | ||||||
| RASA3_chr13_113972783_114137623 | 114010763 | G | GGAGGGGA others(743): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0011 | 1 | 67 | 0.0149 | 750 | c.159 others(767): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 16/23 | chr13 | TogoVar | ||||||
| RECQL4_chr8_144506288_144522833 | 144513800 | T | TGAGGAGG others(743): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 HG02976.hp1 others(3): Show |
a0007a0011 | a0007c0014a0011c0015 | a0007c0014t0001a0011c0015t0001 | a0007c0014t0001g0050a0007c0014t0001g0231a0011c0015t0001g0022 | 6 | 412 | 0.0146 | 750 | c.205 others(765): Show |
RECQL4 | ENSG00000160957.15 | transcript | ENST00000617875.6 | protein_coding | 12/20 | chr8 | TogoVar |