| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| LRRC27_chr10_132327193_132386508 | 132359154 | C | CAGTGTGG others(514): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0250 | 1 | 290 | 0.0035 | 521 | c.117 others(540): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| LYPD8_chr1_248734415_248760759 | 248753270 | C | CACCCCAC others(514): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0074 | 1 | 374 | 0.0027 | 521 | c.-50 others(538): Show |
LYPD8 | ENSG00000259823.6 | transcript | ENST00000590317.4 | protein_coding | 2/6 | chr1 | TogoVar | ||||||
| MBNL3_chrX_132364320_132494038 | 132396681 | T | TATATATT others(514): Show |
intron_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0188 | 1 | 191 | 0.0052 | 521 | c.343 others(538): Show |
MBNL3 | ENSG00000076770.16 | transcript | ENST00000370853.8 | protein_coding | 3/8 | chrX | TogoVar | ||||||
| MCF2L2_chr3_183173041_183433619 | 183314939 | T | TTTGAGAC others(514): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02717.hp1 HG02976.hp2 others(2): Show |
a0002a0006a0008others(1): Show | a0002c0002a0006c0006a0008c0008others(1): Show | a0002c0002t0006a0006c0006t0003a0008c0008t0009others(2): Show | a0002c0002t0006g0051a0006c0006t0003g0118a0008c0008t0009g0175others(2): Show | 5 | 176 | 0.0284 | 521 | c.753 others(538): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 7/29 | chr3 | TogoVar | ||||||
| MCF2L2_chr3_183173041_183433619 | 183314943 | T | TTTGAGAC others(514): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00609.hp1 others(7): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0017a0002c0002t0001others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0030a0001c0001t0001g0075others(7): Show | 10 | 176 | 0.0568 | 521 | c.753 others(538): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 7/29 | chr3 | TogoVar | ||||||
| MCF2L2_chr3_183173041_183433619 | 183314943 | T | TTTGAGAC others(514): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0008 | a0008c0008 | a0008c0008t0001 | a0008c0008t0001g0065 | 1 | 176 | 0.0057 | 521 | c.753 others(538): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 7/29 | chr3 | TogoVar | ||||||
| MYNN_chr3_169768396_169794716 | 169770602 | A | AATATAAA others(514): Show |
upstream_gene_variant | MODIFIER | NA18966.hp2 NA19006.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0004 | 2 | 350 | 0.0057 | 521 | c.-28 others(532): Show |
MYNN | ENSG00000085274.16 | transcript | ENST00000349841.10 | protein_coding | 2793 | chr3 | TogoVar | ||||||
| NCAPG2_chr7_158626169_158709804 | 158668360 | T | TCCTTACC others(514): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0271 | 1 | 378 | 0.0027 | 521 | c.147 others(540): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | ||||||
| NFATC1_chr18_79390930_79534323 | 79532251 | C | CTGCAGCC others(514): Show |
downstream_gene_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0089 | 1 | 322 | 0.0031 | 521 | c.*46 others(532): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 2929 | chr18 | TogoVar | ||||||
| PARP10_chr8_143972158_143991460 | 143981916 | T | TGGTGGTG others(514): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0029 | 1 | 380 | 0.0026 | 521 | c.255 others(540): Show |
PARP10 | ENSG00000178685.14 | transcript | ENST00000313028.12 | protein_coding | 9/10 | chr8 | TogoVar | ||||||
| PAX1_chr20_21700664_21723481 | 21721646 | T | TATGTATT others(514): Show |
downstream_gene_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 400 | 0.0025 | 521 | c.*70 others(532): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3166 | chr20 | TogoVar | ||||||
| PDE10A_chr6_165322289_165668241 | 165619409 | C | CTAGTGTA others(514): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0027 | 1 | 222 | 0.0045 | 521 | c.865 others(540): Show |
PDE10A | ENSG00000112541.19 | transcript | ENST00000539869.4 | protein_coding | 1/21 | chr6 | TogoVar | ||||||
| PWWP2B_chr10_132392200_132422859 | 132392564 | G | GTGATGAT others(514): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 HG01975.hp1 HG01975.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0019a0001c0001t0001g0060a0001c0001t0001g0253others(1): Show | 5 | 374 | 0.0134 | 521 | c.-46 others(532): Show |
PWWP2B | ENSG00000171813.14 | transcript | ENST00000305233.6 | protein_coding | 4635 | chr10 | TogoVar | ||||||
| RASA3_chr13_113972783_114137623 | 114044332 | C | CCCCCCCG others(514): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0055 | 1 | 67 | 0.0149 | 521 | c.278 others(538): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 3/23 | chr13 | TogoVar | ||||||
| RNF213_chr17_80255852_80403794 | 80355506 | C | CGGGAATG others(514): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0008 | a0008c0028 | a0008c0028t0018 | a0008c0028t0018g0244 | 1 | 292 | 0.0034 | 521 | c.108 others(540): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 36/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| RPA3_chr7_7631518_7723607 | 7679098 | C | CATATATT others(514): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 308 | 0.0033 | 521 | c.-75 others(540): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
| RPA3_chr7_7631518_7723607 | 7679134 | A | ATTTATAT others(514): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 308 | 0.0033 | 521 | c.-75 others(540): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
| RPH3AL_chr17_207389_357807 | 304998 | A | AGGGGGAC others(514): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 133 | 0.0075 | 521 | c.351 others(540): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
| RPH3AL_chr17_207389_357807 | 305109 | A | AGGGGACA others(514): Show |
intron_variant | MODIFIER | HG02165.hp1 NA18947.hp1 NA18951.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0015a0001c0001t0024others(2): Show | a0001c0001t0003g0034a0001c0001t0003g0051a0001c0001t0003g0081others(4): Show | 7 | 133 | 0.0526 | 521 | c.351 others(540): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
| SCART1_chr10_133448945_133474760 | 133472599 | C | CCTGAGAT others(514): Show |
downstream_gene_variant | MODIFIER | HG01069.hp2 HG01891.hp2 HG02280.hp1 others(4): Show |
a0004a0012 | a0004c0005a0004c0020a0004c0043others(1): Show | a0004c0005t0005a0004c0020t0005a0004c0043t0005others(1): Show | a0004c0005t0005g0166a0004c0020t0005g0044a0004c0020t0005g0164others(3): Show | 7 | 434 | 0.0161 | 521 | c.*46 others(532): Show |
SCART1 | ENSG00000214279.13 | transcript | ENST00000640237.2 | protein_coding | 2840 | chr10 | TogoVar | ||||||
| SNX6_chr14_34556093_34635148 | 34557555 | T | TCTTCTTC others(514): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0303 | 1 | 322 | 0.0031 | 521 | c.*55 others(532): Show |
SNX6 | ENSG00000129515.20 | transcript | ENST00000362031.10 | protein_coding | 3537 | chr14 | TogoVar | ||||||
| SRXN1_chr20_641615_658200 | 642167 | G | GGGGGCCC others(514): Show |
downstream_gene_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0041 | 1 | 422 | 0.0024 | 521 | c.*65 others(532): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4447 | chr20 | TogoVar | ||||||
| TECTA_chr11_121096243_121196490 | 121185348 | C | CAATGCTT others(514): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0003 | a0003c0054 | a0003c0054t0002 | a0003c0054t0002g0327 | 1 | 348 | 0.0029 | 521 | c.600 others(540): Show |
TECTA | ENSG00000109927.11 | transcript | ENST00000392793.6 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| THNSL2_chr2_88165346_88191627 | 88181090 | G | GCCTCTCT others(514): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0011 | a0011c0014 | a0011c0014t0001 | a0011c0014t0001g0018 | 1 | 54 | 0.0185 | 521 | c.803 others(538): Show |
THNSL2 | ENSG00000144115.18 | transcript | ENST00000674334.2 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| TMEM132C_chr12_128262170_128712911 | 128646103 | T | TTGGATGT others(514): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0006 | a0006c0021 | a0006c0021t0002 | a0006c0021t0002g0002 | 1 | 170 | 0.0059 | 521 | c.130 others(542): Show |
TMEM132C | ENSG00000181234.10 | transcript | ENST00000435159.3 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| TMPRSS9_chr19_2355265_2431261 | 2418737 | C | CTACCTCT others(514): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0017 | 1 | 114 | 0.0088 | 521 | c.215 others(538): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| TNS3_chr7_47270154_47587111 | 47363030 | T | TCACCATC others(514): Show |
intron_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0091 | 1 | 196 | 0.0051 | 521 | c.228 others(540): Show |
TNS3 | ENSG00000136205.18 | transcript | ENST00000311160.14 | protein_coding | 17/30 | chr7 | TogoVar | ||||||
| TPO_chr2_1408463_1548673 | 1422358 | C | CGCCGCGC others(514): Show |
intron_variant | MODIFIER | HG02572.hp1 NA19043.hp1 |
a0008 | a0008c0011 | a0008c0011t0006 | a0008c0011t0006g0048a0008c0011t0006g0092 | 2 | 130 | 0.0154 | 521 | c.95- others(534): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| TRAPPC12_chr2_3374694_3484565 | 3438152 | C | CCACCCCT others(514): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0047 | 1 | 344 | 0.0029 | 521 | c.141 others(540): Show |
TRAPPC12 | ENSG00000171853.16 | transcript | ENST00000324266.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| TRIM2_chr4_153199443_153344317 | 153222058 | A | AAGGAAGG others(514): Show |
intron_variant | MODIFIER | HG02109.hp1 NA18522.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0267a0001c0002t0002g0268 | 2 | 268 | 0.0075 | 521 | c.30+ others(538): Show |
TRIM2 | ENSG00000109654.16 | transcript | ENST00000338700.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| TRIM48_chr11_55257155_55276114 | 55273323 | T | TTATATAT others(514): Show |
downstream_gene_variant | MODIFIER | HG02055.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0012 | 1 | 272 | 0.0037 | 521 | c.*28 others(532): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 2210 | chr11 | TogoVar | ||||||
| TTC16_chr9_127711079_127736590 | 127720831 | T | TGCCCCGT others(514): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0044 | 1 | 334 | 0.0030 | 521 | c.657 others(536): Show |
TTC16 | ENSG00000167094.16 | transcript | ENST00000373289.4 | protein_coding | 6/13 | chr9 | TogoVar | ||||||
| TTC16_chr9_127711079_127736590 | 127720831 | T | TTCCCCCT others(514): Show |
intron_variant | MODIFIER | HG01884.hp2 NA20300.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0151a0001c0002t0002g0152 | 2 | 334 | 0.0060 | 521 | c.657 others(536): Show |
TTC16 | ENSG00000167094.16 | transcript | ENST00000373289.4 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| TTLL8_chr22_50013575_50063298 | 50028864 | C | CCCCCATC others(514): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0055 | 1 | 224 | 0.0045 | 521 | c.225 others(540): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | ||||||
| TTLL8_chr22_50013575_50063298 | 50028931 | C | CCCCACAC others(514): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0022 | a0022c0014 | a0022c0014t0001 | a0022c0014t0001g0085 | 1 | 224 | 0.0045 | 521 | c.225 others(540): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | ||||||
| TTLL8_chr22_50013575_50063298 | 50029061 | A | ACCCCCAC others(514): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 2 | 224 | 0.0089 | 521 | c.225 others(540): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | ||||||
| TTLL8_chr22_50013575_50063298 | 50029406 | A | ACCCCACA others(514): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02622.hp2 HG02647.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007a0001c0001t0002g0199a0001c0001t0002g0207others(1): Show | 4 | 224 | 0.0179 | 521 | c.225 others(540): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | ||||||
| UMAD1_chr7_7635752_7884223 | 7679098 | C | CATATATT others(514): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0041 | 1 | 250 | 0.0040 | 521 | c.82+ others(536): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| UNC5D_chr8_35230475_35801540 | 35509511 | C | CCCCTCCC others(514): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 64 | 0.0156 | 521 | c.104 others(540): Show |
UNC5D | ENSG00000156687.11 | transcript | ENST00000404895.7 | protein_coding | 1/16 | chr8 | TogoVar | ||||||
| VWA2_chr10_114234254_114299489 | 114253198 | T | TCCTCTCC others(514): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0187 | 1 | 246 | 0.0041 | 521 | c.53- others(534): Show |
VWA2 | ENSG00000165816.13 | transcript | ENST00000392982.8 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| VWA2_chr10_114234254_114299489 | 114253208 | T | TCCCCCTC others(514): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0149 | 1 | 246 | 0.0041 | 521 | c.53- others(534): Show |
VWA2 | ENSG00000165816.13 | transcript | ENST00000392982.8 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| WDR64_chr1_241647281_241807777 | 241675123 | C | CCTTCCTT others(514): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0297 | 1 | 326 | 0.0031 | 521 | c.483 others(536): Show |
WDR64 | ENSG00000162843.18 | transcript | ENST00000437684.7 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| WDR87_chr19_37879823_37911594 | 37881047 | A | ATATAATA others(514): Show |
downstream_gene_variant | MODIFIER | HG03704.hp2 HG04115.hp2 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0155a0003c0004t0001g0162 | 2 | 330 | 0.0061 | 521 | c.*38 others(532): Show |
WDR87 | ENSG00000171804.11 | transcript | ENST00000447313.7 | protein_coding | 3775 | chr19 | TogoVar | ||||||
| ZNF468_chr19_52833010_52862619 | 52853587 | G | GGGCTGAG others(514): Show |
intron_variant | MODIFIER | HG02809.hp2 HG02895.hp1 HG02896.hp2 others(2): Show |
a0003a0008 | a0003c0003a0008c0010 | a0003c0003t0011a0008c0010t0011 | a0003c0003t0011g0122a0008c0010t0011g0020a0008c0010t0011g0123 | 5 | 426 | 0.0117 | 521 | c.15+ others(534): Show |
ZNF468 | ENSG00000204604.13 | transcript | ENST00000595646.6 | protein_coding | 2/3 | chr19 | TogoVar | ||||||
| ZNF85_chr19_20918251_20955697 | 20919189 | A | ATACAAGT others(514): Show |
upstream_gene_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 383 | 0.0026 | 521 | c.-42 others(532): Show |
ZNF85 | ENSG00000105750.15 | transcript | ENST00000328178.13 | protein_coding | 4061 | chr19 | TogoVar | ||||||
| ABR_chr17_998519_1184981 | 1119316 | C | CTCCCCAG others(515): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0078 | a0001c0001t0078g0289 | 1 | 337 | 0.0030 | 522 | c.246 others(539): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | ||||||
| ABR_chr17_998519_1184981 | 1173220 | T | TCAACACA others(515): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0036 | 1 | 337 | 0.0030 | 522 | c.61+ others(537): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | ||||||
| ADAMTS14_chr10_70667506_70767441 | 70688844 | G | GGAGGGAG others(515): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0018 | a0001c0018t0016 | a0001c0018t0016g0023 | 1 | 354 | 0.0028 | 522 | c.523 others(541): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| ADPRHL1_chr13_113394611_113458488 | 113419014 | T | TCCTCCCT others(515): Show |
intron_variant | MODIFIER | HG02451.hp1 HG03516.hp1 |
a0003 | a0003c0003 | a0003c0003t0008a0003c0003t0089 | a0003c0003t0008g0252a0003c0003t0089g0249 | 2 | 262 | 0.0076 | 522 | c.106 others(541): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | ||||||
| ALK_chr2_29187774_29926586 | 29831108 | G | GAGCAGGA others(515): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0005 | a0005c0013 | a0005c0013t0004 | a0005c0013t0004g0050 | 1 | 80 | 0.0125 | 522 | c.667 others(541): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar |