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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NKX1-1_chr4_1397932_1411442 | 1397968 | A | AGTAGATC others(1163): Show |
downstream_gene_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0001 | 1 | 382 | 0.0026 | 1170 | c.*49 others(1181): Show |
NKX1-1 | ENSG00000235608.2 | transcript | ENST00000422806.2 | protein_coding | 4963 | chr4 | TogoVar | ||||||
NKX1-1_chr4_1397932_1411442 | 1397968 | A | AGTAGATC others(1163): Show |
downstream_gene_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0037 | 1 | 382 | 0.0026 | 1170 | c.*49 others(1181): Show |
NKX1-1 | ENSG00000235608.2 | transcript | ENST00000422806.2 | protein_coding | 4963 | chr4 | TogoVar | ||||||
PAK2_chr3_196734857_196837647 | 196811357 | C | CCCTTCCC others(1163): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0171 | 1 | 178 | 0.0056 | 1170 | c.773 others(1185): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PRPF31_chr19_54110754_54136713 | 54133762 | C | CCTCTCTC others(1163): Show |
downstream_gene_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 227 | 0.0044 | 1170 | c.*23 others(1181): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2050 | chr19 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 458501 | C | CCACAGGG others(1163): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0013 | a0001c0013t0052 | a0001c0013t0052g0069 | 1 | 295 | 0.0034 | 1170 | c.715 others(1187): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RAB11FIP3_chr16_420649_528011 | 458567 | G | GTTCAGTG others(1163): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 295 | 0.0034 | 1170 | c.715 others(1187): 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(1163): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0006 | a0001c0006t0058 | a0001c0006t0058g0111 | 1 | 295 | 0.0034 | 1170 | c.715 others(1187): 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(1163): Show |
intron_variant | MODIFIER | HG02027.hp2 HG02129.hp1 HG02129.hp2 others(2): Show |
a0001a0009 | a0001c0001a0009c0009 | a0001c0001t0003a0001c0001t0011a0001c0001t0045others(2): Show | a0001c0001t0003g0216a0001c0001t0011g0132a0001c0001t0045g0138others(2): Show | 5 | 295 | 0.0170 | 1170 | c.715 others(1187): 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(1163): Show |
intron_variant | MODIFIER | HG02165.hp1 NA18944.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007 | a0001c0001t0003g0135a0001c0001t0007g0134 | 2 | 295 | 0.0068 | 1170 | c.715 others(1187): 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(1163): Show |
intron_variant | MODIFIER | NA18977.hp1 NA18983.hp1 NA19090.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0034 | a0001c0001t0003g0210a0001c0001t0003g0261a0001c0001t0034g0208 | 3 | 295 | 0.0102 | 1170 | c.715 others(1187): 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(1163): Show |
intron_variant | MODIFIER | NA18948.hp1 NA19080.hp2 |
a0002 | a0002c0003 | a0002c0003t0007 | a0002c0003t0007g0095a0002c0003t0007g0096 | 2 | 295 | 0.0068 | 1170 | c.715 others(1187): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RPH3AL_chr17_207389_357807 | 316297 | T | TCCACCTC others(1163): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0039 | 1 | 133 | 0.0075 | 1170 | c.351 others(1187): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80744163 | C | CCCTGGCT others(1163): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0046 | 1 | 196 | 0.0051 | 1170 | c.655 others(1187): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RPTOR_chr17_80539838_80971368 | 80744523 | C | CCCTGGTT others(1163): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0008 | a0001c0008t0036 | a0001c0008t0036g0002 | 1 | 196 | 0.0051 | 1170 | c.655 others(1187): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SDK1_chr7_3296252_4274000 | 3977425 | A | ACAGAGGG others(1163): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0059 | a0001c0059t0027 | a0001c0059t0027g0090 | 1 | 116 | 0.0086 | 1170 | c.199 others(1189): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 13/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
SPIRE2_chr16_89823475_89876319 | 89852299 | A | ACCAGATC others(1163): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0319 | 1 | 356 | 0.0028 | 1170 | c.645 others(1187): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SPIRE2_chr16_89823475_89876319 | 89852368 | C | CCCCCACC others(1163): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0318 | 1 | 356 | 0.0028 | 1170 | c.645 others(1187): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
TENM4_chr11_78647829_79446030 | 79139529 | C | CTAGAAAT others(1163): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0013 | 1 | 94 | 0.0106 | 1170 | c.-66 others(1187): Show |
TENM4 | ENSG00000149256.16 | transcript | ENST00000278550.12 | protein_coding | 4/33 | chr11 | TogoVar | ||||||
TLL2_chr10_96359608_96518926 | 96439188 | C | CCTCCCAG others(1163): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01361.hp1 HG02738.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0001g0012a0001c0001t0001g0191a0001c0001t0001g0192others(6): Show | 9 | 256 | 0.0352 | 1170 | c.365 others(1187): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 3/20 | chr10 | TogoVar | ||||||
TLL2_chr10_96359608_96518926 | 96439188 | C | CCTCCCAG others(1163): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0025 | 1 | 256 | 0.0039 | 1170 | c.365 others(1187): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 3/20 | chr10 | TogoVar | ||||||
TLL2_chr10_96359608_96518926 | 96439188 | C | CCTCCCAG others(1163): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG02015.hp2 others(2): Show |
a0001a0008 | a0001c0001a0001c0020a0008c0015 | a0001c0001t0001a0001c0001t0006a0001c0020t0001others(1): Show | a0001c0001t0001g0093a0001c0001t0001g0181a0001c0001t0006g0152others(2): Show | 5 | 256 | 0.0195 | 1170 | c.365 others(1187): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 3/20 | chr10 | TogoVar | ||||||
TMEM120B_chr12_121707752_121787068 | 121747853 | G | GCTGGGGT others(1163): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0268 | 1 | 314 | 0.0032 | 1170 | c.189 others(1185): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TSHZ2_chr20_52967358_53500330 | 53204252 | T | TATGATGA others(1163): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0008 | a0008c0015 | a0008c0015t0075 | a0008c0015t0075g0097 | 1 | 174 | 0.0058 | 1170 | c.41- others(1187): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ZBTB34_chr9_126855639_126890878 | 126876166 | C | CCCCCCTT others(1163): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0148 | 1 | 246 | 0.0041 | 1170 | c.-10 others(1187): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
C2CD4C_chr19_400445_414147 | 410763 | G | GTCCTGGG others(1164): Show |
upstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0078 | a0001c0001t0078g0173 | 1 | 322 | 0.0031 | 1171 | c.-17 others(1182): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1617 | chr19 | TogoVar | ||||||
CTU2_chr16_88701503_88720396 | 88713084 | C | CCTGAGAG others(1164): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0003 | a0003c0039 | a0003c0039t0002 | a0003c0039t0002g0134 | 1 | 418 | 0.0024 | 1171 | c.737 others(1186): Show |
CTU2 | ENSG00000174177.13 | transcript | ENST00000453996.7 | protein_coding | 7/14 | chr16 | TogoVar | ||||||
CYLC1_chrX_83856146_83891698 | 83878202 | A | AATATATA others(1164): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01891.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 2 | 208 | 0.0096 | 1171 | c.192 others(1190): Show |
CYLC1 | ENSG00000183035.13 | transcript | ENST00000329312.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CYLC1_chrX_83856146_83891698 | 83878202 | A | AATATATA others(1164): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 | 1 | 208 | 0.0048 | 1171 | c.192 others(1190): Show |
CYLC1 | ENSG00000183035.13 | transcript | ENST00000329312.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DCLK1_chr13_35763652_36136382 | 35958284 | G | GCTATAAC others(1164): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0121 | 1 | 230 | 0.0044 | 1171 | c.724 others(1190): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322914 | T | TATATATG others(1164): Show |
upstream_gene_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 | 1 | 323 | 0.0031 | 1171 | c.-21 others(1182): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2055 | chr21 | TogoVar | ||||||
LMTK3_chr19_48480271_48516835 | 48514890 | A | AGAAAAGA others(1164): Show |
upstream_gene_variant | MODIFIER | NA20129.hp1 | a0000 | a0000c0001 | a0000c0001t0001 | a0000c0001t0001g0048 | 1 | 314 | 0.0032 | 1171 | c.-33 others(1182): Show |
LMTK3 | ENSG00000142235.13 | transcript | ENST00000600059.6 | protein_coding | 3056 | chr19 | TogoVar | ||||||
LMTK3_chr19_48480271_48516835 | 48514891 | A | AAAAAGAA others(1164): Show |
upstream_gene_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG02109.hp1 |
a0000 | a0000c0001 | a0000c0001t0001 | a0000c0001t0001g0007a0000c0001t0001g0032 | 3 | 314 | 0.0096 | 1171 | c.-33 others(1182): Show |
LMTK3 | ENSG00000142235.13 | transcript | ENST00000600059.6 | protein_coding | 3057 | chr19 | TogoVar | ||||||
NXN_chr17_794310_984776 | 952622 | T | TGGGGGGG others(1164): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0093 | 1 | 242 | 0.0041 | 1171 | c.360 others(1190): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45746360 | T | TTGTCAGC others(1164): Show |
intron_variant | MODIFIER | NA19005.hp2 NA19080.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0079a0001c0001t0003g0099 | 2 | 292 | 0.0069 | 1171 | c.-16 others(1190): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PKD1_chr16_2083708_2140898 | 2104181 | A | AAAGGGAG others(1164): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0009 | a0009c0016 | a0009c0016t0008 | a0009c0016t0008g0002 | 1 | 216 | 0.0046 | 1171 | c.816 others(1188): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 22/45 | chr16 | TogoVar | ||||||
RIMS2_chr8_103495610_104259430 | 103706759 | T | TCTTGGAG others(1164): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0144 | 1 | 172 | 0.0058 | 1171 | c.507 others(1188): Show |
RIMS2 | ENSG00000176406.25 | transcript | ENST00000696799.1 | protein_coding | 4/29 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
RIN3_chr14_92508781_92693994 | 92547356 | T | TATTATAA others(1164): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0195 | 1 | 334 | 0.0030 | 1171 | c.45- others(1186): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ROBO2_chr3_77035099_77654964 | 77322971 | T | TTATATTA others(1164): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0152 | 1 | 160 | 0.0063 | 1171 | c.389 others(1192): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
RPH3AL_chr17_207389_357807 | 242644 | C | CCTTCCTC others(1164): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0007 | a0007c0014 | a0007c0014t0018 | a0007c0014t0018g0102 | 1 | 133 | 0.0075 | 1171 | c.613 others(1188): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 7/9 | chr17 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 316297 | T | TCCACCTC others(1164): Show |
intron_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0004 | 1 | 133 | 0.0075 | 1171 | c.351 others(1188): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
SEL1L2_chr20_13844247_13995614 | 13934476 | C | CATATATA others(1164): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0009 | a0009c0014 | a0009c0014t0002 | a0009c0014t0002g0063 | 1 | 324 | 0.0031 | 1171 | c.115 others(1188): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 246325278 | G | GGGAAGGA others(1164): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 150 | 0.0067 | 1171 | c.531 others(1188): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
TLL2_chr10_96359608_96518926 | 96439188 | C | CCTCCCAG others(1164): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02145.hp1 |
a0001a0010 | a0001c0002a0010c0013 | a0001c0002t0007a0010c0013t0030 | a0001c0002t0007g0107a0010c0013t0030g0193 | 2 | 256 | 0.0078 | 1171 | c.365 others(1188): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 3/20 | chr10 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168975252 | T | TAAATATA others(1165): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0026 | a0001c0026t0001 | a0001c0026t0001g0280 | 1 | 306 | 0.0033 | 1172 | c.130 others(1191): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168975252 | T | TAAATATA others(1165): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0177 | 1 | 306 | 0.0033 | 1172 | c.130 others(1191): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72456228 | G | GTACTATA others(1165): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032 | 1 | 182 | 0.0055 | 1172 | c.505 others(1191): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ATP10A_chr15_25673712_25868327 | 25757898 | T | GATCACCT others(1165): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0249 | 1 | 300 | 0.0033 | 1172 | c.655 others(1191): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 82971659 | A | ACAGGGGC others(1165): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02559.hp1 NA20129.hp1 |
a0001 | a0001c0001a0001c0011 | a0001c0001t0002a0001c0001t0017a0001c0011t0017 | a0001c0001t0002g0178a0001c0001t0017g0177a0001c0011t0017g0145 | 3 | 266 | 0.0113 | 1172 | c.460 others(1189): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
CABP5_chr19_48024383_48049079 | 48043533 | C | CCACCACC others(1165): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0292 | 1 | 376 | 0.0027 | 1172 | c.63+ others(1185): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
CCDC6_chr10_59783747_59911556 | 59882004 | G | GGGGGGAG others(1165): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0103a0001c0001t0002g0104 | 2 | 288 | 0.0069 | 1172 | c.303 others(1191): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar |