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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KLHDC4_chr16_87702812_87770986 | 87739065 | C | CCTCATCC others(897): Show |
intron_variant | MODIFIER | HG02040.hp2 HG02717.hp2 HG03516.hp1 others(2): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001 | a0001c0001t0001g0048a0004c0004t0001g0039a0004c0004t0001g0040others(2): Show | 5 | 380 | 0.0132 | 904 | c.507 others(921): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 5/11 | chr16 | TogoVar | ||||||
KLHDC4_chr16_87702812_87770986 | 87739065 | C | CCTCATCC others(897): Show |
intron_variant | MODIFIER | HG00642.hp1 HG03130.hp1 |
a0008 | a0008c0008 | a0008c0008t0001 | a0008c0008t0001g0091a0008c0008t0001g0092 | 2 | 380 | 0.0053 | 904 | c.507 others(921): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 5/11 | chr16 | TogoVar | ||||||
LARS1_chr5_146108034_146187650 | 146174593 | T | TATATATA others(897): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0243 | 1 | 284 | 0.0035 | 904 | c.126 others(921): Show |
LARS1 | ENSG00000133706.20 | transcript | ENST00000394434.7 | protein_coding | 2/31 | chr5 | TogoVar | ||||||
LRP8_chr1_53237364_53333070 | 53283749 | C | CCACTTAC others(897): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0002 | a0002c0003 | a0002c0003t0063 | a0002c0003t0063g0083 | 1 | 296 | 0.0034 | 904 | c.368 others(921): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | ||||||
MCTP2_chr15_94226561_94488952 | 94348434 | C | CCTCCCCC others(897): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0005 | a0001c0005t0052 | a0001c0005t0052g0178 | 1 | 276 | 0.0036 | 904 | c.100 others(923): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
MCTP2_chr15_94226561_94488952 | 94348434 | C | CCTCCCCC others(897): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0223 | 1 | 276 | 0.0036 | 904 | c.100 others(923): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(897): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0025 | a0025c0125 | a0025c0125t0001 | a0025c0125t0001g0065 | 1 | 292 | 0.0034 | 904 | c.218 others(919): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | ||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(897): Show |
upstream_gene_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199 | 1 | 318 | 0.0031 | 904 | c.-49 others(915): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | ||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(897): Show |
upstream_gene_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 318 | 0.0031 | 904 | c.-49 others(915): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | ||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(897): Show |
upstream_gene_variant | MODIFIER | HG03669.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0136 | 1 | 318 | 0.0031 | 904 | c.-49 others(915): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | ||||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGAGGG others(897): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 272 | 0.0037 | 904 | c.250 others(919): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
NOP14_chr4_2932936_2968406 | 2961219 | T | TAGTAACT others(897): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0075 | 1 | 422 | 0.0024 | 904 | c.195 others(921): Show |
NOP14 | ENSG00000087269.16 | transcript | ENST00000416614.7 | protein_coding | 1/17 | chr4 | TogoVar | ||||||
NXN_chr17_794310_984776 | 952763 | A | AGTCAGAC others(897): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 242 | 0.0041 | 904 | c.360 others(923): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
PAIP1_chr5_43521267_43562077 | 43541207 | C | CTCCGCCT others(897): Show |
intron_variant | MODIFIER | NA19006.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0260 | 1 | 350 | 0.0029 | 904 | c.734 others(921): Show |
PAIP1 | ENSG00000172239.14 | transcript | ENST00000306846.8 | protein_coding | 4/10 | chr5 | TogoVar | ||||||
PAIP1_chr5_43521267_43562077 | 43541207 | C | CTCCGCCT others(897): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02572.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0328a0001c0001t0004g0332a0001c0001t0004g0333 | 3 | 350 | 0.0086 | 904 | c.734 others(921): Show |
PAIP1 | ENSG00000172239.14 | transcript | ENST00000306846.8 | protein_coding | 4/10 | chr5 | TogoVar | ||||||
PAIP1_chr5_43521267_43562077 | 43541207 | C | CTCCGCCT others(897): Show |
intron_variant | MODIFIER | NA18977.hp1 NA18983.hp2 NA19003.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0271a0001c0001t0001g0272a0001c0001t0001g0296others(1): Show | 4 | 350 | 0.0114 | 904 | c.734 others(921): Show |
PAIP1 | ENSG00000172239.14 | transcript | ENST00000306846.8 | protein_coding | 4/10 | chr5 | TogoVar | ||||||
PAIP1_chr5_43521267_43562077 | 43541207 | C | CTCCGCCT others(897): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00544.hp2 others(84): Show |
a0001a0002 | a0001c0001a0002c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0008others(78): Show | 87 | 350 | 0.2486 | 904 | c.734 others(921): Show |
PAIP1 | ENSG00000172239.14 | transcript | ENST00000306846.8 | protein_coding | 4/10 | chr5 | TogoVar | ||||||
PAIP1_chr5_43521267_43562077 | 43541207 | C | CTCCGCCT others(897): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226 | 1 | 350 | 0.0029 | 904 | c.734 others(921): Show |
PAIP1 | ENSG00000172239.14 | transcript | ENST00000306846.8 | protein_coding | 4/10 | chr5 | TogoVar | ||||||
PAIP1_chr5_43521267_43562077 | 43541207 | C | CTCCGCCT others(897): Show |
intron_variant | MODIFIER | HG03491.hp1 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230a0001c0001t0001g0231 | 2 | 350 | 0.0057 | 904 | c.734 others(921): Show |
PAIP1 | ENSG00000172239.14 | transcript | ENST00000306846.8 | protein_coding | 4/10 | chr5 | TogoVar | ||||||
PAIP1_chr5_43521267_43562077 | 43541207 | C | CTCTGCCT others(897): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0270 | 1 | 350 | 0.0029 | 904 | c.734 others(921): Show |
PAIP1 | ENSG00000172239.14 | transcript | ENST00000306846.8 | protein_coding | 4/10 | chr5 | TogoVar | ||||||
PJA2_chr5_109329722_109414974 | 109354358 | T | TATGATAT others(897): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0116 | 1 | 346 | 0.0029 | 904 | c.176 others(923): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 7/9 | chr5 | TogoVar | ||||||
PJA2_chr5_109329722_109414974 | 109354358 | T | TATGATAT others(897): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0070 | 1 | 346 | 0.0029 | 904 | c.176 others(923): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 7/9 | chr5 | TogoVar | ||||||
PJA2_chr5_109329722_109414974 | 109354358 | T | TATGATAT others(897): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0118 | 1 | 346 | 0.0029 | 904 | c.176 others(923): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 7/9 | chr5 | TogoVar | ||||||
PJA2_chr5_109329722_109414974 | 109354358 | T | TATGATAT others(897): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0003 | a0003c0003 | a0003c0003t0021 | a0003c0003t0021g0074 | 1 | 346 | 0.0029 | 904 | c.176 others(923): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 7/9 | chr5 | TogoVar | ||||||
PJA2_chr5_109329722_109414974 | 109354358 | T | TATGATAT others(897): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0099 | 1 | 346 | 0.0029 | 904 | c.176 others(923): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 7/9 | chr5 | TogoVar | ||||||
PJA2_chr5_109329722_109414974 | 109354358 | T | TATGATAT others(897): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0003 | a0003c0003 | a0003c0003t0011 | a0003c0003t0011g0342 | 1 | 346 | 0.0029 | 904 | c.176 others(923): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 7/9 | chr5 | TogoVar | ||||||
PKHD1_chr6_51610299_52092613 | 51982220 | A | ATCCGGGA others(897): Show |
intron_variant | MODIFIER | NA18989.hp2 | a0002 | a0002c0020 | a0002c0020t0003 | a0002c0020t0003g0084 | 1 | 134 | 0.0075 | 904 | c.575 others(925): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | ||||||
PPP1R14C_chr6_150138044_150255392 | 150167973 | T | TCCTTCTC others(897): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 312 | 0.0032 | 904 | c.306 others(923): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PRPF31_chr19_54110754_54136713 | 54133762 | C | CCTCTCTC others(897): Show |
downstream_gene_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 227 | 0.0044 | 904 | c.*23 others(915): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2050 | chr19 | TogoVar | ||||||
PSMC3_chr11_47413775_47431439 | 47429079 | A | ACCTCCCA others(897): Show |
upstream_gene_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0119 | 1 | 380 | 0.0026 | 904 | c.-28 others(915): Show |
PSMC3 | ENSG00000165916.9 | transcript | ENST00000298852.8 | protein_coding | 2641 | chr11 | TogoVar | ||||||
PSMC3_chr11_47413775_47431439 | 47429079 | A | ACCTCCCA others(897): Show |
upstream_gene_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 380 | 0.0026 | 904 | c.-28 others(915): Show |
PSMC3 | ENSG00000165916.9 | transcript | ENST00000298852.8 | protein_coding | 2641 | chr11 | TogoVar | ||||||
PSMC3_chr11_47413775_47431439 | 47429079 | A | ACCTCCCA others(897): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00423.hp1 others(86): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0007others(27): Show | 89 | 380 | 0.2342 | 904 | c.-28 others(915): Show |
PSMC3 | ENSG00000165916.9 | transcript | ENST00000298852.8 | protein_coding | 2641 | chr11 | TogoVar | ||||||
RBFOX1_chr16_6014024_7718340 | 7146991 | T | TTGAGATG others(897): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 68 | 0.0147 | 904 | c.27+ others(921): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RBFOX1_chr16_6014024_7718340 | 7147041 | G | GCGATCTC others(897): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0054 | 1 | 68 | 0.0147 | 904 | c.27+ others(921): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RBFOX1_chr16_6014024_7718340 | 7147041 | G | GCGATCTC others(897): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0038 | 1 | 68 | 0.0147 | 904 | c.27+ others(921): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RBFOX1_chr16_6014024_7718340 | 7147041 | G | GCGATCTC others(897): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02965.hp1 HG02976.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0018others(4): Show | a0001c0001t0001g0030a0001c0001t0004g0033a0001c0001t0018g0052others(4): Show | 7 | 68 | 0.1029 | 904 | c.27+ others(921): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RIN3_chr14_92508781_92693994 | 92547356 | T | TATTATAA others(897): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0009 | a0009c0008 | a0009c0008t0001 | a0009c0008t0001g0316 | 1 | 334 | 0.0030 | 904 | c.45- others(919): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
SAMD11_chr1_918923_949574 | 934343 | C | CGGGGGAG others(897): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0321 | 1 | 434 | 0.0023 | 904 | c.843 others(921): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SBNO2_chr19_1102638_1179268 | 1164823 | G | GGAGGAGG others(897): Show |
intron_variant | MODIFIER | HG02155.hp1 NA18947.hp1 |
a0000a0001 | a0000c0017a0001c0013 | a0000c0017t0001a0001c0013t0001 | a0000c0017t0001g0086a0001c0013t0001g0087 | 2 | 203 | 0.0099 | 904 | c.-12 others(923): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | ||||||
SLC22A1_chr6_160116815_160163718 | 160125719 | G | GGGGATGT others(897): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0290 | 1 | 416 | 0.0024 | 904 | c.411 others(921): Show |
SLC22A1 | ENSG00000175003.15 | transcript | ENST00000366963.9 | protein_coding | 1/10 | chr6 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 965368 | A | ATCCTCCT others(897): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02559.hp1 |
a0003a0010 | a0003c0007a0010c0012 | a0003c0007t0001a0010c0012t0001 | a0003c0007t0001g0108a0010c0012t0001g0066 | 2 | 190 | 0.0105 | 904 | c.72+ others(921): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SNTG2_chr2_945849_1372613 | 1223101 | G | GATCGCTG others(897): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0003 | a0003c0007 | a0003c0007t0002 | a0003c0007t0002g0077 | 1 | 190 | 0.0053 | 904 | c.719 others(923): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SNTG2_chr2_945849_1372613 | 1223119 | C | CGGCGCAG others(897): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00735.hp2 HG01074.hp2 others(6): Show |
a0001a0007a0013 | a0001c0001a0001c0002a0007c0016others(1): Show | a0001c0001t0001a0001c0002t0001a0007c0016t0001others(1): Show | a0001c0001t0001g0090a0001c0001t0001g0125a0001c0002t0001g0007others(6): Show | 9 | 190 | 0.0474 | 904 | c.719 others(923): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SPATC1L_chr21_46156160_46189459 | 46170521 | T | TCCTTCTC others(897): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 251 | 0.0040 | 904 | c.194 others(921): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 2/4 | chr21 | TogoVar | ||||||
THEG_chr19_356747_381026 | 377549 | T | TCTGTACC others(897): Show |
upstream_gene_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 | 1 | 370 | 0.0027 | 904 | c.-15 others(915): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1524 | chr19 | TogoVar | ||||||
TMEM255B_chr13_113754226_113821995 | 113812938 | G | GTCACAGG others(897): Show |
3_prime_UTR_variant | MODIFIER | HG00738.hp1 HG01261.hp2 HG01928.hp2 others(26): Show |
a0001a0002 | a0001c0002a0002c0010 | a0001c0002t0007a0001c0002t0008a0001c0002t0011others(16): Show | a0001c0002t0007g0114a0001c0002t0007g0123a0001c0002t0007g0171others(25): Show | 29 | 260 | 0.1115 | 904 | c.*10 others(915): Show |
TMEM255B | ENSG00000184497.13 | transcript | ENST00000375353.5 | protein_coding | 9/9 | 1040 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||
TMEM255B_chr13_113754226_113821995 | 113812938 | G | GTCACAGG others(897): Show |
3_prime_UTR_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0002 | a0001c0002t0058 | a0001c0002t0058g0113 | 1 | 260 | 0.0039 | 904 | c.*10 others(915): Show |
TMEM255B | ENSG00000184497.13 | transcript | ENST00000375353.5 | protein_coding | 9/9 | 1040 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||
TMPRSS9_chr19_2355265_2431261 | 2418742 | T | TTTCATTC others(897): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0008 | a0008c0024 | a0008c0024t0002 | a0008c0024t0002g0114 | 1 | 114 | 0.0088 | 904 | c.215 others(921): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
TP53AIP1_chr11_128930370_128947871 | 128930835 | G | GTTAGGGA others(897): Show |
downstream_gene_variant | MODIFIER | HG02683.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0003 | 1 | 466 | 0.0022 | 904 | c.*47 others(915): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4534 | chr11 | TogoVar | ||||||
TP53AIP1_chr11_128930370_128947871 | 128930850 | G | GTTAGGGA others(897): Show |
downstream_gene_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 466 | 0.0022 | 904 | c.*47 others(915): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4519 | chr11 | TogoVar |