view | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MRGPRG_chr11_3212944_3223813 | 3214914 | C | CCCACCCA others(165): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0000 | 2 | 426 | 0.0047 | 172 | c.*30 others(183): Show |
MRGPRG | ENSG00000182170.3 | transcript | ENST00000332314.3 | protein_coding | 3029 | chr11 | TogoVar | |||||||
MRGPRG_chr11_3212944_3223813 | 3214914 | C | CCCACCCA others(165): Show |
downstream_gene_variant | MODIFIER | HG00741.hp2 HG02273.hp1 |
a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0000 | 2 | 426 | 0.0047 | 172 | c.*30 others(183): Show |
MRGPRG | ENSG00000182170.3 | transcript | ENST00000332314.3 | protein_coding | 3029 | chr11 | TogoVar | |||||||
MROH2A_chr2_233773330_233838418 | 233787925 | T | TATATATT others(165): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0059 | a0059c0181 | a0059c0181t0001 | a0059c0181t0001g0047 | 1 | 378 | 0.0027 | 172 | c.277 others(189): Show |
MROH2A | ENSG00000185038.15 | transcript | ENST00000389758.4 | protein_coding | 3/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MSI2_chr17_57251523_57689689 | 57450253 | C | CAGAAAGA others(165): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0131 | 1 | 168 | 0.0060 | 172 | c.405 others(191): Show |
MSI2 | ENSG00000153944.12 | transcript | ENST00000284073.7 | protein_coding | 6/13 | chr17 | TogoVar | |||||||
MSLN_chr16_755734_773862 | 767581 | C | CGCGTGGA others(165): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 388 | 0.0026 | 172 | c.159 others(189): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MSLN_chr16_755734_773862 | 767748 | G | GGGGGCGC others(165): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 388 | 0.0026 | 172 | c.159 others(189): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MSLN_chr16_755734_773862 | 769189 | C | CCCCACCC others(165): Show |
downstream_gene_variant | MODIFIER | NA19012.hp1 | a0014 | a0014c0047 | a0014c0047t0003 | a0014c0047t0003g0030 | 1 | 388 | 0.0026 | 172 | c.*45 others(181): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 328 | chr16 | TogoVar | |||||||
MXRA5_chrX_3303565_3351652 | 3326168 | T | TTTATAAT others(165): Show |
intron_variant | MODIFIER | HG02109.hp2 NA19043.hp1 |
a0003a0008 | a0003c0003a0008c0043 | a0003c0003t0001a0008c0043t0002 | a0003c0003t0001g0204a0008c0043t0002g0143 | 2 | 284 | 0.0070 | 172 | c.710 others(189): Show |
MXRA5 | ENSG00000101825.8 | transcript | ENST00000217939.7 | protein_coding | 4/6 | chrX | TogoVar | |||||||
MYCBP2_chr13_77039657_77332094 | 77174902 | T | TATATATA others(165): Show |
intron_variant | MODIFIER | HG03130.hp1 NA19030.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0018a0001c0003t0001g0019 | 2 | 334 | 0.0060 | 172 | c.547 others(189): Show |
MYCBP2 | ENSG00000005810.20 | transcript | ENST00000544440.7 | protein_coding | 36/82 | chr13 | TogoVar | |||||||
MYDGF_chr19_4652545_4675342 | 4663531 | C | CACAGCCT others(165): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0252 | 1 | 410 | 0.0024 | 172 | c.287 others(189): Show |
MYDGF | ENSG00000074842.8 | transcript | ENST00000262947.8 | protein_coding | 3/5 | chr19 | TogoVar | |||||||
MYDGF_chr19_4652545_4675342 | 4663531 | C | CACAGCCT others(165): Show |
intron_variant | MODIFIER | HG02135.hp1 HG04184.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0068a0002c0003t0001g0070 | 2 | 410 | 0.0049 | 172 | c.287 others(189): Show |
MYDGF | ENSG00000074842.8 | transcript | ENST00000262947.8 | protein_coding | 3/5 | chr19 | TogoVar | |||||||
MYNN_chr3_169768396_169794716 | 169770602 | A | AATATAAA others(165): Show |
upstream_gene_variant | MODIFIER | HG03098.hp1 HG03834.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040a0001c0001t0002g0042 | 2 | 350 | 0.0057 | 172 | c.-28 others(183): Show |
MYNN | ENSG00000085274.16 | transcript | ENST00000349841.10 | protein_coding | 2793 | chr3 | TogoVar | |||||||
MYNN_chr3_169768396_169794716 | 169770602 | A | AATATAAA others(165): Show |
upstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0105 | 1 | 350 | 0.0029 | 172 | c.-28 others(183): Show |
MYNN | ENSG00000085274.16 | transcript | ENST00000349841.10 | protein_coding | 2793 | chr3 | TogoVar | |||||||
NCAM2_chr21_20993409_21548329 | 21331568 | C | CATATATA others(165): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0004 | a0001c0004t0036 | a0001c0004t0036g0071 | 1 | 132 | 0.0076 | 172 | c.738 others(189): Show |
NCAM2 | ENSG00000154654.15 | transcript | ENST00000400546.6 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
NCAM2_chr21_20993409_21548329 | 21331576 | T | TACTCTAT others(165): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0012 | 1 | 132 | 0.0076 | 172 | c.738 others(189): Show |
NCAM2 | ENSG00000154654.15 | transcript | ENST00000400546.6 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
NCOR2_chr12_124319415_124572612 | 124333895 | T | TGTGTGCG others(165): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0022 | a0001c0022t0002 | a0001c0022t0002g0034 | 1 | 234 | 0.0043 | 172 | c.660 others(189): Show |
NCOR2 | ENSG00000196498.15 | transcript | ENST00000405201.6 | protein_coding | 43/48 | chr12 | TogoVar | |||||||
NEU4_chr2_241804193_241822413 | 241815308 | G | GCAAATCC others(165): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0007 | a0007c0020 | a0007c0020t0003 | a0007c0020t0003g0101 | 1 | 319 | 0.0031 | 172 | c.457 others(187): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NFATC1_chr18_79390930_79534323 | 79400832 | A | ACCCCTCC others(165): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0002 | a0002c0002 | a0002c0002t0013 | a0002c0002t0013g0191 | 1 | 322 | 0.0031 | 172 | c.127 others(189): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
NFATC1_chr18_79390930_79534323 | 79400832 | A | ACCCCTCC others(165): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00544.hp2 others(69): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0005others(18): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(41): Show | a0001c0001t0001g0236a0001c0001t0001g0237a0001c0001t0001g0240others(69): Show | 72 | 322 | 0.2236 | 172 | c.127 others(189): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
NFATC1_chr18_79390930_79534323 | 79400832 | A | ACCCCTCC others(165): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01167.hp2 HG01169.hp2 others(6): Show |
a0001a0002a0011 | a0001c0004a0002c0011a0002c0012others(1): Show | a0001c0004t0002a0002c0011t0002a0002c0012t0002others(1): Show | a0001c0004t0002g0001a0001c0004t0002g0300a0001c0004t0002g0301others(5): Show | 9 | 322 | 0.0280 | 172 | c.127 others(189): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
NFATC1_chr18_79390930_79534323 | 79400832 | A | ACCCCTCC others(165): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0002 | a0002c0003 | a0002c0003t0023 | a0002c0003t0023g0124 | 1 | 322 | 0.0031 | 172 | c.127 others(189): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
NFATC1_chr18_79390930_79534323 | 79400833 | C | CCCCTCCC others(165): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0003 | a0003c0007 | a0003c0007t0008 | a0003c0007t0008g0031 | 1 | 322 | 0.0031 | 172 | c.127 others(189): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
NLRP5_chr19_55994726_56066810 | 55998710 | G | GTATATAT others(165): Show |
upstream_gene_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0022 | a0001c0022t0001 | a0001c0022t0001g0356 | 1 | 396 | 0.0025 | 172 | c.-10 others(183): Show |
NLRP5 | ENSG00000171487.16 | transcript | ENST00000390649.8 | protein_coding | 1015 | chr19 | TogoVar | |||||||
NOS1AP_chr1_162064691_162375475 | 162261479 | A | AGAGGGAG others(165): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0175 | 1 | 182 | 0.0055 | 172 | c.178 others(191): Show |
NOS1AP | ENSG00000198929.13 | transcript | ENST00000361897.10 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NPRL3_chr16_80386_143673 | 82089 | G | GCCCCTTC others(165): Show |
downstream_gene_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0188 | 1 | 350 | 0.0029 | 172 | c.*46 others(183): Show |
NPRL3 | ENSG00000103148.17 | transcript | ENST00000611875.5 | protein_coding | 3296 | chr16 | TogoVar | |||||||
NRIP3_chr11_8975576_9009001 | 8978799 | A | AGCCGCCC others(165): Show |
downstream_gene_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0222 | 1 | 406 | 0.0025 | 172 | c.*47 others(183): Show |
NRIP3 | ENSG00000175352.12 | transcript | ENST00000309166.8 | protein_coding | 1776 | chr11 | TogoVar | |||||||
NRIP3_chr11_8975576_9009001 | 8978824 | G | GCGCCTCT others(165): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 HG02559.hp2 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0042a0001c0001t0012g0061 | 2 | 406 | 0.0049 | 172 | c.*47 others(183): Show |
NRIP3 | ENSG00000175352.12 | transcript | ENST00000309166.8 | protein_coding | 1751 | chr11 | TogoVar | |||||||
NUP205_chr7_135552917_135653753 | 135570788 | T | TAATATAT others(165): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0029 | a0001c0029t0001 | a0001c0029t0001g0162 | 1 | 352 | 0.0028 | 172 | c.29- others(185): Show |
NUP205 | ENSG00000155561.15 | transcript | ENST00000285968.11 | protein_coding | 1/42 | chr7 | TogoVar | |||||||
NXN_chr17_794310_984776 | 949299 | T | TGCCTCCT others(165): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0224 | 1 | 242 | 0.0041 | 172 | c.360 others(191): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
OR2T12_chr1_248285139_248308424 | 248306539 | G | GCCCTGAG others(165): Show |
upstream_gene_variant | MODIFIER | HG00609.hp2 NA18950.hp2 NA19012.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 3 | 406 | 0.0074 | 172 | c.-33 others(183): Show |
OR2T12 | ENSG00000177201.3 | transcript | ENST00000641276.1 | protein_coding | 3116 | chr1 | TogoVar | |||||||
OR4K2_chr14_19870142_19888932 | 19872713 | T | TTATATAT others(165): Show |
upstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0003 | a0001c0003t0073 | a0001c0003t0073g0001 | 1 | 254 | 0.0039 | 172 | c.-34 others(183): Show |
OR4K2 | ENSG00000165762.3 | transcript | ENST00000641885.1 | protein_coding | 2428 | chr14 | TogoVar | |||||||
OR5AN1_chr11_59353895_59376714 | 59356682 | A | AGAGGGGA others(165): Show |
upstream_gene_variant | MODIFIER | HG02486.hp2 | a0002 | a0002c0002 | a0002c0002t0012 | a0002c0002t0012g0060 | 1 | 358 | 0.0028 | 172 | c.-26 others(183): Show |
OR5AN1 | ENSG00000176495.3 | transcript | ENST00000641998.1 | protein_coding | 2212 | chr11 | TogoVar | |||||||
OR5AN1_chr11_59353895_59376714 | 59356682 | A | AGAGGGGA others(165): Show |
upstream_gene_variant | MODIFIER | HG02895.hp1 HG03041.hp1 NA19240.hp1 |
a0002a0007 | a0002c0003a0007c0007 | a0002c0003t0022a0007c0007t0021 | a0002c0003t0022g0049a0002c0003t0022g0050a0007c0007t0021g0048 | 3 | 358 | 0.0084 | 172 | c.-26 others(183): Show |
OR5AN1 | ENSG00000176495.3 | transcript | ENST00000641998.1 | protein_coding | 2212 | chr11 | TogoVar | |||||||
OSBPL10_chr3_31655825_31986262 | 31857789 | G | GAGAGACA others(165): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0003 | a0003c0008 | a0003c0008t0002 | a0003c0008t0002g0005 | 1 | 186 | 0.0054 | 172 | c.537 others(191): Show |
OSBPL10 | ENSG00000144645.16 | transcript | ENST00000396556.7 | protein_coding | 3/11 | chr3 | TogoVar | |||||||
OSBPL10_chr3_31655825_31986262 | 31857789 | G | GAGAGACA others(165): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0002 | a0002c0035 | a0002c0035t0001 | a0002c0035t0001g0134 | 1 | 186 | 0.0054 | 172 | c.537 others(191): Show |
OSBPL10 | ENSG00000144645.16 | transcript | ENST00000396556.7 | protein_coding | 3/11 | chr3 | TogoVar | |||||||
OSCAR_chr19_54089668_54105803 | 54096337 | C | CCTCTCTC others(165): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0256 | 1 | 443 | 0.0023 | 172 | c.374 others(187): Show |
OSCAR | ENSG00000170909.14 | transcript | ENST00000358375.9 | protein_coding | 3/4 | chr19 | TogoVar | |||||||
OSGIN1_chr16_83948240_83971332 | 83950975 | A | ACACACGT others(165): Show |
upstream_gene_variant | MODIFIER | HG00738.hp2 HG01109.hp2 HG01243.hp1 others(16): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0002t0001others(5): Show | a0001c0001t0002g0203a0001c0001t0004g0021a0001c0002t0001g0056others(13): Show | 19 | 350 | 0.0543 | 172 | c.-24 others(183): Show |
OSGIN1 | ENSG00000140961.14 | transcript | ENST00000393306.6 | protein_coding | 2264 | chr16 | TogoVar | |||||||
PACRG_chr6_162722974_163320500 | 162892923 | G | GGAGCCTC others(165): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0024 | 1 | 130 | 0.0077 | 172 | c.291 others(191): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PACSIN2_chr22_42864773_43020149 | 42981480 | C | CGGGGGGG others(165): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0253 | 1 | 294 | 0.0034 | 172 | c.-78 others(191): Show |
PACSIN2 | ENSG00000100266.19 | transcript | ENST00000263246.8 | protein_coding | 1/10 | chr22 | TogoVar | |||||||
PAK1_chr11_77317017_77479094 | 77332345 | G | GGAAAGGG others(165): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01243.hp1 HG02451.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0009 | a0001c0001t0001g0229a0001c0001t0001g0230a0001c0001t0006g0004others(3): Show | 6 | 302 | 0.0199 | 172 | c.155 others(189): Show |
PAK1 | ENSG00000149269.10 | transcript | ENST00000356341.8 | protein_coding | 14/14 | chr11 | TogoVar | |||||||
PAK1_chr11_77317017_77479094 | 77332351 | A | AGGGAAGG others(165): Show |
intron_variant | MODIFIER | HG02976.hp2 HG03130.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0231a0001c0001t0007g0232a0001c0001t0007g0233 | 3 | 302 | 0.0099 | 172 | c.155 others(189): Show |
PAK1 | ENSG00000149269.10 | transcript | ENST00000356341.8 | protein_coding | 14/14 | chr11 | TogoVar | |||||||
PAK1_chr11_77317017_77479094 | 77332351 | A | AGGGAAGG others(165): Show |
intron_variant | MODIFIER | NA18992.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0298 | 1 | 302 | 0.0033 | 172 | c.155 others(189): Show |
PAK1 | ENSG00000149269.10 | transcript | ENST00000356341.8 | protein_coding | 14/14 | chr11 | TogoVar | |||||||
PARP9_chr3_122522924_122569300 | 122539507 | A | ATTCCTTT others(165): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0319 | 1 | 436 | 0.0023 | 172 | c.176 others(189): Show |
PARP9 | ENSG00000138496.17 | transcript | ENST00000682323.1 | protein_coding | 8/10 | chr3 | TogoVar | |||||||
PASD1_chrX_151558675_151681739 | 151562909 | G | GGGGGGGG others(165): Show |
upstream_gene_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 221 | 0.0045 | 172 | c.-95 others(181): Show |
PASD1 | ENSG00000166049.11 | transcript | ENST00000370357.5 | protein_coding | 765 | chrX | TogoVar | |||||||
PASD1_chrX_151558675_151681739 | 151562915 | G | GGCGGGGG others(165): Show |
upstream_gene_variant | MODIFIER | HG02074.hp1 | a0010 | a0010c0018 | a0010c0018t0001 | a0010c0018t0001g0220 | 1 | 221 | 0.0045 | 172 | c.-95 others(181): Show |
PASD1 | ENSG00000166049.11 | transcript | ENST00000370357.5 | protein_coding | 759 | chrX | TogoVar | |||||||
PAX1_chr20_21700664_21723481 | 21721646 | T | TATGTATT others(165): Show |
downstream_gene_variant | MODIFIER | HG03130.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 400 | 0.0050 | 172 | c.*70 others(183): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3166 | chr20 | TogoVar | |||||||
PCBP3_chr21_45638725_45947450 | 45909792 | C | CCCCCCCC others(165): Show |
intron_variant | MODIFIER | HG02015.hp1 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007 | a0001c0001t0005g0286a0001c0001t0007g0234 | 2 | 292 | 0.0069 | 172 | c.471 others(187): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45910079 | A | ACCCACTT others(165): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0289 | 1 | 292 | 0.0034 | 172 | c.471 others(187): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCCB_chr3_136245340_136335169 | 136299756 | G | GTATGTAT others(165): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 300 | 0.0033 | 172 | c.885 others(189): Show |
PCCB | ENSG00000114054.14 | transcript | ENST00000251654.9 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PCED1A_chr20_2830314_2845655 | 2842829 | T | TATAGATG others(165): Show |
upstream_gene_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 436 | 0.0023 | 172 | c.-26 others(183): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2175 | chr20 | TogoVar |