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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SCUBE2_chr11_9014476_9096599 | 9082987 | T | TAAAAAGT others(2251): Show |
intron_variant | MODIFIER | HG00408.hp1 HG02040.hp2 HG02132.hp2 others(2): Show |
a0001a0002a0004 | a0001c0005a0002c0001a0004c0004 | a0001c0005t0009a0002c0001t0003a0004c0004t0007 | a0001c0005t0009g0120 a0002c0001t0003g0319 a0004c0004t0007g0250 others(2): Show |
5 | 268 | 0.0187 | 2258 | c.257 others(2275): Show |
SCUBE2 | ENSG00000175356.14 | transcript | ENST00000649792.2 | protein_coding | 2/22 | chr11 | TogoVar | |||||||
ARFRP1_chr20_63693647_63712976 | 63693732 | T | TCCACCTC others(2252): Show |
downstream_gene_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 99 | 0.0101 | 2259 | c.*67 others(2270): Show |
ARFRP1 | ENSG00000101246.20 | transcript | ENST00000622789.5 | protein_coding | 4914 | chr20 | TogoVar | |||||||
ARHGEF16_chr1_3449665_3486113 | 3477317 | A | ACCCACCC others(2252): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0002 | a0002c0007 | a0002c0007t0002 | a0002c0007t0002g0158 | 1 | 294 | 0.0034 | 2259 | c.147 others(2276): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNOT3_chr19_54132762_54160681 | 54133762 | C | CCTCTCTC others(2252): Show |
upstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 195 | 0.0051 | 2259 | c.-42 others(2270): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 3999 | chr19 | TogoVar | |||||||
DOCK8_chr9_209865_470255 | 400827 | T | TCACCATC others(2252): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0015 | a0015c0057 | a0015c0057t0001 | a0015c0057t0001g0021 | 1 | 166 | 0.0060 | 2259 | c.323 others(2278): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2252): Show |
intron_variant | MODIFIER | HG03098.hp2 HG03130.hp2 HG03471.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0023 a0001c0001t0005g0178 a0001c0001t0005g0184 |
5 | 8 | 0.6250 | 2259 | c.972 others(2272): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GFRA2_chr8_21685398_21793875 | 21766794 | C | CACAGCCA others(2252): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0180 | 1 | 82 | 0.0122 | 2259 | c.439 others(2276): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 3/8 | chr8 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 859712 | C | CGGGTGTG others(2252): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213 | 1 | 71 | 0.0141 | 2259 | c.153 others(2278): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LUZP2_chr11_24492053_25087638 | 24919131 | T | TATATACT others(2252): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01106.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0027 a0001c0001t0002g0028 |
2 | 5 | 0.4000 | 2259 | c.522 others(2276): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MICAL3_chr22_17782649_18029561 | 17877387 | T | TGGAGGTT others(2252): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0002 | a0002c0012 | a0002c0012t0004 | a0002c0012t0004g0066 | 1 | 231 | 0.0043 | 2259 | c.224 others(2278): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
PARP4_chr13_24415931_24517778 | 24424994 | T | TTAAATTC others(2252): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0045 | a0045c0035 | a0045c0035t0001 | a0045c0035t0001g0031 | 1 | 359 | 0.0028 | 2259 | c.497 others(2278): Show |
PARP4 | ENSG00000102699.6 | transcript | ENST00000381989.4 | protein_coding | 33/33 | chr13 | TogoVar | |||||||
AGBL4_chr1_48527854_50028954 | 50002096 | T | TGAAAGTA others(2253): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 104 | 0.0096 | 2260 | c.34+ others(2277): Show |
AGBL4 | ENSG00000186094.18 | transcript | ENST00000371839.6 | protein_coding | 1/13 | chr1 | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 642838 | C | CCAGGCGG others(2253): Show |
downstream_gene_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 144 | 0.0069 | 2260 | c.*17 others(2271): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1394 | chr11 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 642838 | C | CCAGGCGG others(2253): Show |
downstream_gene_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 172 | 0.0058 | 2260 | c.*22 others(2271): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2133 | chr11 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 659547 | T | TGTGCACT others(2253): Show |
downstream_gene_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0286 | 1 | 366 | 0.0027 | 2260 | c.*50 others(2271): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 4652 | chr8 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 859759 | A | ATGGGTGT others(2253): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 285 | 0.0035 | 2260 | c.153 others(2279): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
RIN2_chr20_19753258_20007456 | 19924462 | T | TCACCTTC others(2253): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0062 | 1 | 143 | 0.0070 | 2260 | c.58- others(2277): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
RIN2_chr20_19753258_20007456 | 19924462 | T | TCACCTTC others(2253): Show |
intron_variant | MODIFIER | HG02040.hp1 HG02074.hp2 HG02132.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(6): Show | a0001c0001t0001g0037 a0001c0001t0001g0048 a0001c0001t0002g0019 others(9): Show |
12 | 154 | 0.0779 | 2260 | c.58- others(2277): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TECTA_chr11_121096243_121196490 | 121185949 | T | TTAATGAA others(2253): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0305 | 1 | 316 | 0.0032 | 2260 | c.600 others(2279): Show |
TECTA | ENSG00000109927.11 | transcript | ENST00000392793.6 | protein_coding | 20/23 | chr11 | TogoVar | |||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2254): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0185 | 1 | 4 | 0.2500 | 2261 | c.972 others(2274): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(2254): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0018 | a0018c0020 | a0018c0020t0001 | a0018c0020t0001g0149 | 1 | 8 | 0.1250 | 2261 | c.723 others(2278): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(2254): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0058 | a0058c0085 | a0058c0085t0001 | a0058c0085t0001g0133 | 1 | 32 | 0.0313 | 2261 | c.218 others(2276): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114099760 | C | CCCCCCAC others(2254): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 59 | 0.0169 | 2261 | c.56- others(2278): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | |||||||
RASGEF1C_chr5_180095795_180214211 | 180134844 | C | CCATCCAC others(2254): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01257.hp1 HG01258.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0022a0001c0002t0028a0001c0002t0055 | a0001c0002t0022g0220 a0001c0002t0028g0131 a0001c0002t0028g0132 others(1): Show |
4 | 5 | 0.8000 | 2261 | c.438 others(2278): Show |
RASGEF1C | ENSG00000146090.16 | transcript | ENST00000361132.9 | protein_coding | 4/13 | chr5 | TogoVar | |||||||
TRIM66_chr11_8607040_8687665 | 8653897 | C | CAAGAACA others(2254): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0017 | a0017c0018 | a0017c0018t0015 | a0017c0018t0015g0035 | 1 | 380 | 0.0026 | 2261 | c.341 others(2278): Show |
TRIM66 | ENSG00000166436.18 | transcript | ENST00000646038.2 | protein_coding | 6/24 | chr11 | TogoVar | |||||||
ABCA7_chr19_1035107_1070572 | 1049932 | C | CACCGCTC others(2255): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0006 | a0006c0019 | a0006c0019t0002 | a0006c0019t0002g0029 | 1 | 23 | 0.0435 | 2262 | c.255 others(2279): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
C1QTNF9_chr13_24304580_24327531 | 24314869 | T | TGAAAATG others(2255): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 445 | 0.0022 | 2262 | c.-22 others(2279): Show |
C1QTNF9 | ENSG00000240654.6 | transcript | ENST00000332018.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
C1QTNF9_chr13_24304580_24327531 | 24314869 | T | TGAAAATG others(2255): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 445 | 0.0022 | 2262 | c.-22 others(2279): Show |
C1QTNF9 | ENSG00000240654.6 | transcript | ENST00000332018.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37585521 | A | ATGTTGAG others(2255): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0054 | 1 | 142 | 0.0070 | 2262 | c.-22 others(2279): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CDH4_chr20_61247261_61945617 | 61331613 | C | CCCCAGGC others(2255): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0002 | a0002c0002 | a0002c0002t0011 | a0002c0002t0011g0104 | 1 | 65 | 0.0154 | 2262 | c.169 others(2281): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CLCN5_chrX_49917596_50104230 | 50057375 | G | GTCCTGGA others(2255): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 16 | 0.0625 | 2262 | c.164 others(2281): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CLCN5_chrX_49917596_50104230 | 50057375 | G | GTCCTGGA others(2255): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01243.hp1 HG02976.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0002t0002 | a0001c0001t0001g0024 a0001c0001t0001g0055 a0001c0001t0005g0170 others(2): Show |
5 | 20 | 0.2500 | 2262 | c.164 others(2281): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706437 | G | GATACATA others(2255): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0008 | a0008c0020 | a0008c0020t0001 | a0008c0020t0001g0134 | 1 | 230 | 0.0043 | 2262 | c.228 others(2279): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5706437 | G | GATAGACA others(2255): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0008 | a0008c0032 | a0008c0032t0001 | a0008c0032t0001g0132 | 1 | 230 | 0.0043 | 2262 | c.228 others(2279): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706349 | G | GATAGATA others(2255): Show |
upstream_gene_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0264 | 1 | 318 | 0.0031 | 2262 | c.-50 others(2273): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4851 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706437 | G | GATACATA others(2255): Show |
upstream_gene_variant | MODIFIER | HG02723.hp2 | a0006 | a0006c0012 | a0006c0012t0001 | a0006c0012t0001g0359 | 1 | 293 | 0.0034 | 2262 | c.-49 others(2273): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4763 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706437 | G | GATAGACA others(2255): Show |
upstream_gene_variant | MODIFIER | HG02896.hp2 HG02897.hp1 |
a0006 | a0006c0012 | a0006c0012t0013 | a0006c0012t0013g0357 a0006c0012t0013g0358 |
2 | 294 | 0.0068 | 2262 | c.-49 others(2273): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4763 | chr4 | TogoVar | |||||||
FLG2_chr1_152343735_152365006 | 152350994 | G | GTGCACTT others(2255): Show |
disruptive_inframe_insertion | MODERATE | NA18999.hp2 NA19060.hp2 |
a0019 | a0019c0022 | a0019c0022t0002 | a0019c0022t0002g0030 | 2 | 420 | 0.0048 | 2262 | c.679 others(2271): Show |
p.His others(2277): Show |
FLG2 | ENSG00000143520.6 | transcript | ENST00000388718.5 | protein_coding | 3/3 | 6864/9124 | 6791/7176 | 2264/2391 | chr1 | TogoVar | |||
INPP5A_chr10_132532787_132788480 | 132775188 | G | GGGGCAGG others(2255): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0200 | 1 | 13 | 0.0769 | 2262 | c.978 others(2279): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 914617 | C | CCATGACC others(2255): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0002 | a0002c0054 | a0002c0054t0001 | a0002c0054t0001g0111 | 1 | 4 | 0.2500 | 2262 | c.515 others(2279): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 914617 | C | CCATGACC others(2255): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01081.hp1 HG01928.hp1 others(2): Show |
a0001 | a0001c0005 | a0001c0005t0001a0001c0005t0012 | a0001c0005t0001g0113 a0001c0005t0001g0114 a0001c0005t0001g0115 others(2): Show |
5 | 8 | 0.6250 | 2262 | c.515 others(2279): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 914617 | C | CCATGACC others(2255): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0109 | 1 | 4 | 0.2500 | 2262 | c.515 others(2279): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | |||||||
LUZP2_chr11_24492053_25087638 | 24919131 | T | TATATACT others(2255): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02970.hp1 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0038 | a0001c0001t0003g0036 a0001c0001t0003g0095 a0001c0001t0038g0034 |
3 | 6 | 0.5000 | 2262 | c.522 others(2279): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NCOR2_chr12_124319415_124572612 | 124439414 | C | CAGAGAGA others(2255): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00597.hp1 HG00642.hp1 others(15): Show |
a0001a0002a0003others(3): Show | a0001c0028a0001c0029a0001c0038others(14): Show | a0001c0028t0026a0001c0029t0002a0001c0038t0005others(15): Show | a0001c0028t0026g0108 a0001c0029t0002g0040 a0001c0038t0005g0156 others(15): Show |
18 | 218 | 0.0826 | 2262 | c.816 others(2279): Show |
NCOR2 | ENSG00000196498.15 | transcript | ENST00000405201.6 | protein_coding | 9/48 | chr12 | TogoVar | |||||||
NCOR2_chr12_124319415_124572612 | 124439414 | C | CAGAGAGA others(2255): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02071.hp2 HG02165.hp1 others(2): Show |
a0002 | a0002c0006a0002c0016a0002c0153 | a0002c0006t0002a0002c0006t0020a0002c0016t0004others(2): Show | a0002c0006t0002g0024 a0002c0006t0020g0092 a0002c0016t0004g0011 others(2): Show |
5 | 205 | 0.0244 | 2262 | c.816 others(2279): Show |
NCOR2 | ENSG00000196498.15 | transcript | ENST00000405201.6 | protein_coding | 9/48 | chr12 | TogoVar | |||||||
NCOR2_chr12_124319415_124572612 | 124439414 | C | CAGAGAGA others(2255): Show |
intron_variant | MODIFIER | HG01168.hp2 NA19009.hp2 NA20752.hp2 |
a0003a0011 | a0003c0011a0011c0128 | a0003c0011t0002a0003c0011t0081a0011c0128t0007 | a0003c0011t0002g0090 a0003c0011t0081g0234 a0011c0128t0007g0155 |
3 | 203 | 0.0148 | 2262 | c.816 others(2279): Show |
NCOR2 | ENSG00000196498.15 | transcript | ENST00000405201.6 | protein_coding | 9/48 | chr12 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 458604 | G | GGGTTCAC others(2255): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0172 | 1 | 207 | 0.0048 | 2262 | c.715 others(2279): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 458604 | G | GGGTTCAC others(2255): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0135 | 1 | 207 | 0.0048 | 2262 | c.715 others(2279): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2256): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 | 1 | 50 | 0.0200 | 2263 | c.147 others(2280): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ARPC2_chr2_218212189_218259348 | 218231229 | C | CATATTGG others(2256): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 18 | 0.0556 | 2263 | c.222 others(2280): Show |
ARPC2 | ENSG00000163466.16 | transcript | ENST00000315717.10 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |