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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LAPTM5_chr1_30727469_30762774 | 30732368 | G | GTGTGGAG others(2535): Show |
downstream_gene_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0037 | 1 | 421 | 0.0024 | 2542 | c.*14 others(2553): Show |
LAPTM5 | ENSG00000162511.8 | transcript | ENST00000294507.4 | protein_coding | 100 | chr1 | TogoVar | |||||||
SAR1B_chr5_134596149_134637828 | 134619330 | C | CAAAAAAA others(2535): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0256 | 1 | 322 | 0.0031 | 2542 | c.178 others(2559): Show |
SAR1B | ENSG00000152700.14 | transcript | ENST00000402673.7 | protein_coding | 3/6 | chr5 | TogoVar | |||||||
SLC38A10_chr17_81239811_81300307 | 81249456 | G | GAGGAGGG others(2535): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0072 | 1 | 214 | 0.0047 | 2542 | c.206 others(2561): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | |||||||
TTC24_chr1_156574723_156592719 | 156586449 | C | CCCCTCCC others(2535): Show |
splice_region_variant others(1): Show |
LOW | HG02451.hp1 | a0004 | a0004c0005 | a0004c0005t0003 | a0004c0005t0003g0058 | 1 | 442 | 0.0023 | 2542 | c.166 others(2555): Show |
TTC24 | ENSG00000187862.13 | transcript | ENST00000368236.8 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TTC24_chr1_156574723_156592719 | 156586449 | C | CCCCTCCC others(2535): Show |
splice_region_variant others(1): Show |
LOW | HG03041.hp2 | a0004 | a0004c0005 | a0004c0005t0003 | a0004c0005t0003g0060 | 1 | 442 | 0.0023 | 2542 | c.166 others(2555): Show |
TTC24 | ENSG00000187862.13 | transcript | ENST00000368236.8 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZDHHC11B_chr5_705355_789729 | 721255 | T | TAAAGATT others(2535): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0211 | 1 | 271 | 0.0037 | 2542 | c.105 others(2561): Show |
ZDHHC11B | ENSG00000206077.14 | transcript | ENST00000508859.8 | protein_coding | 12/13 | chr5 | TogoVar | |||||||
ZDHHC11B_chr5_705355_789729 | 721255 | T | TAAAGATT others(2535): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0002 | a0001c0002t0040 | a0001c0002t0040g0027 | 1 | 271 | 0.0037 | 2542 | c.105 others(2561): Show |
ZDHHC11B | ENSG00000206077.14 | transcript | ENST00000508859.8 | protein_coding | 12/13 | chr5 | TogoVar | |||||||
ZNF254_chr19_24082187_24134968 | 24082520 | G | GGTGCCTG others(2535): Show |
upstream_gene_variant | MODIFIER | HG02965.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0064 | 1 | 371 | 0.0027 | 2542 | c.-47 others(2553): Show |
ZNF254 | ENSG00000213096.11 | transcript | ENST00000357002.5 | protein_coding | 4666 | chr19 | TogoVar | |||||||
ZNF254_chr19_24082187_24134968 | 24082520 | G | GGTGCCTG others(2535): Show |
upstream_gene_variant | MODIFIER | NA20300.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0063 | 1 | 371 | 0.0027 | 2542 | c.-47 others(2553): Show |
ZNF254 | ENSG00000213096.11 | transcript | ENST00000357002.5 | protein_coding | 4666 | chr19 | TogoVar | |||||||
ZNF254_chr19_24082187_24134968 | 24082520 | G | GGTGCCTG others(2535): Show |
upstream_gene_variant | MODIFIER | HG02895.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 a0001c0001t0001g0280 |
2 | 371 | 0.0054 | 2542 | c.-47 others(2553): Show |
ZNF254 | ENSG00000213096.11 | transcript | ENST00000357002.5 | protein_coding | 4666 | chr19 | TogoVar | |||||||
ZNF254_chr19_24082187_24134968 | 24082520 | G | GGTGCCTG others(2535): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG00642.hp1 HG01168.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 others(21): Show |
29 | 371 | 0.0782 | 2542 | c.-47 others(2553): Show |
ZNF254 | ENSG00000213096.11 | transcript | ENST00000357002.5 | protein_coding | 4666 | chr19 | TogoVar | |||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2536): Show |
intron_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 | 1 | 334 | 0.0030 | 2543 | c.147 others(2560): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
GTF3C6_chr6_110953706_110972872 | 110956985 | T | TAATTATT others(2536): Show |
upstream_gene_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 346 | 0.0029 | 2543 | c.-17 others(2554): Show |
GTF3C6 | ENSG00000155115.7 | transcript | ENST00000329970.8 | protein_coding | 1720 | chr6 | TogoVar | |||||||
GTF3C6_chr6_110953706_110972872 | 110956985 | T | TAATTATT others(2536): Show |
upstream_gene_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 346 | 0.0029 | 2543 | c.-17 others(2554): Show |
GTF3C6 | ENSG00000155115.7 | transcript | ENST00000329970.8 | protein_coding | 1720 | chr6 | TogoVar | |||||||
HAUS4_chr14_22941228_22962090 | 22944955 | A | ATTAAAAA others(2536): Show |
downstream_gene_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0122 | 1 | 317 | 0.0032 | 2543 | c.*15 others(2554): Show |
HAUS4 | ENSG00000092036.19 | transcript | ENST00000541587.6 | protein_coding | 1272 | chr14 | TogoVar | |||||||
HAUS4_chr14_22941228_22962090 | 22944955 | A | ATTAAAAA others(2536): Show |
downstream_gene_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 317 | 0.0032 | 2543 | c.*15 others(2554): Show |
HAUS4 | ENSG00000092036.19 | transcript | ENST00000541587.6 | protein_coding | 1272 | chr14 | TogoVar | |||||||
HAUS4_chr14_22941228_22962090 | 22944955 | A | ATTAAAAA others(2536): Show |
downstream_gene_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 317 | 0.0032 | 2543 | c.*15 others(2554): Show |
HAUS4 | ENSG00000092036.19 | transcript | ENST00000541587.6 | protein_coding | 1272 | chr14 | TogoVar | |||||||
HAUS4_chr14_22941228_22962090 | 22944955 | A | ATTAAAAA others(2536): Show |
downstream_gene_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0114 | 1 | 317 | 0.0032 | 2543 | c.*15 others(2554): Show |
HAUS4 | ENSG00000092036.19 | transcript | ENST00000541587.6 | protein_coding | 1272 | chr14 | TogoVar | |||||||
KCNJ1_chr11_128833020_128872296 | 128868087 | A | ATATATTA others(2536): Show |
upstream_gene_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0046 | 1 | 301 | 0.0033 | 2543 | c.-11 others(2554): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 792 | chr11 | TogoVar | |||||||
LAPTM5_chr1_30727469_30762774 | 30732368 | G | GTGTGGAG others(2536): Show |
downstream_gene_variant | MODIFIER | HG01255.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0028 | 1 | 421 | 0.0024 | 2543 | c.*14 others(2554): Show |
LAPTM5 | ENSG00000162511.8 | transcript | ENST00000294507.4 | protein_coding | 100 | chr1 | TogoVar | |||||||
LAPTM5_chr1_30727469_30762774 | 30732368 | G | GTGTGGAG others(2536): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0363 | 1 | 421 | 0.0024 | 2543 | c.*14 others(2554): Show |
LAPTM5 | ENSG00000162511.8 | transcript | ENST00000294507.4 | protein_coding | 100 | chr1 | TogoVar | |||||||
LAPTM5_chr1_30727469_30762774 | 30732368 | G | GTGTGGAG others(2536): Show |
downstream_gene_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0054 | 1 | 421 | 0.0024 | 2543 | c.*14 others(2554): Show |
LAPTM5 | ENSG00000162511.8 | transcript | ENST00000294507.4 | protein_coding | 100 | chr1 | TogoVar | |||||||
LAPTM5_chr1_30727469_30762774 | 30732368 | G | GTGTGGAG others(2536): Show |
downstream_gene_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0176 | 1 | 421 | 0.0024 | 2543 | c.*14 others(2554): Show |
LAPTM5 | ENSG00000162511.8 | transcript | ENST00000294507.4 | protein_coding | 100 | chr1 | TogoVar | |||||||
LAPTM5_chr1_30727469_30762774 | 30732368 | G | GTGTGGAG others(2536): Show |
downstream_gene_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0274 | 1 | 421 | 0.0024 | 2543 | c.*14 others(2554): Show |
LAPTM5 | ENSG00000162511.8 | transcript | ENST00000294507.4 | protein_coding | 100 | chr1 | TogoVar | |||||||
LAPTM5_chr1_30727469_30762774 | 30732368 | G | GTGTGGAG others(2536): Show |
downstream_gene_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0291 | 1 | 421 | 0.0024 | 2543 | c.*14 others(2554): Show |
LAPTM5 | ENSG00000162511.8 | transcript | ENST00000294507.4 | protein_coding | 100 | chr1 | TogoVar | |||||||
LAPTM5_chr1_30727469_30762774 | 30732368 | G | GTGTGGAG others(2536): Show |
downstream_gene_variant | MODIFIER | HG01516.hp2 HG01981.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0083 a0001c0002t0002g0353 |
2 | 421 | 0.0048 | 2543 | c.*14 others(2554): Show |
LAPTM5 | ENSG00000162511.8 | transcript | ENST00000294507.4 | protein_coding | 100 | chr1 | TogoVar | |||||||
LAPTM5_chr1_30727469_30762774 | 30732368 | G | GTGTGGAG others(2536): Show |
downstream_gene_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0342 | 1 | 421 | 0.0024 | 2543 | c.*14 others(2554): Show |
LAPTM5 | ENSG00000162511.8 | transcript | ENST00000294507.4 | protein_coding | 100 | chr1 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(2536): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0087 | a0087c0130 | a0087c0130t0054 | a0087c0130t0054g0068 | 1 | 292 | 0.0034 | 2543 | c.218 others(2558): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
TNKS_chr8_9550912_9787346 | 9771917 | A | AGAGTGGA others(2536): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0205 | 1 | 272 | 0.0037 | 2543 | c.389 others(2562): Show |
TNKS | ENSG00000173273.17 | transcript | ENST00000310430.11 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
TTC24_chr1_156574723_156592719 | 156586449 | C | CCCCTCCC others(2536): Show |
splice_region_variant others(1): Show |
LOW | HG01109.hp1 | a0004 | a0004c0005 | a0004c0005t0003 | a0004c0005t0003g0059 | 1 | 442 | 0.0023 | 2543 | c.166 others(2556): Show |
TTC24 | ENSG00000187862.13 | transcript | ENST00000368236.8 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZNF254_chr19_24082187_24134968 | 24082520 | G | GGTGCCTG others(2536): Show |
upstream_gene_variant | MODIFIER | NA19070.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0009 | 1 | 371 | 0.0027 | 2543 | c.-47 others(2554): Show |
ZNF254 | ENSG00000213096.11 | transcript | ENST00000357002.5 | protein_coding | 4666 | chr19 | TogoVar | |||||||
ZNF254_chr19_24082187_24134968 | 24082520 | G | GGTGCCTG others(2536): Show |
upstream_gene_variant | MODIFIER | HG02280.hp1 HG03098.hp1 HG03453.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0109 others(1): Show |
4 | 371 | 0.0108 | 2543 | c.-47 others(2554): Show |
ZNF254 | ENSG00000213096.11 | transcript | ENST00000357002.5 | protein_coding | 4666 | chr19 | TogoVar | |||||||
ZNF254_chr19_24082187_24134968 | 24082520 | G | GGTGCCTG others(2536): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 HG00738.hp1 HG01069.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0154 a0001c0001t0001g0183 others(10): Show |
13 | 371 | 0.0350 | 2543 | c.-47 others(2554): Show |
ZNF254 | ENSG00000213096.11 | transcript | ENST00000357002.5 | protein_coding | 4666 | chr19 | TogoVar | |||||||
ZNF254_chr19_24082187_24134968 | 24082520 | G | GGTGCCTG others(2536): Show |
upstream_gene_variant | MODIFIER | HG01361.hp1 HG02818.hp2 HG03195.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0006 a0002c0002t0001g0028 a0002c0002t0001g0029 |
3 | 371 | 0.0081 | 2543 | c.-47 others(2554): Show |
ZNF254 | ENSG00000213096.11 | transcript | ENST00000357002.5 | protein_coding | 4666 | chr19 | TogoVar | |||||||
ZNF254_chr19_24082187_24134968 | 24082520 | G | GGTGCCTG others(2536): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 | a0008 | a0008c0015 | a0008c0015t0001 | a0008c0015t0001g0019 | 1 | 371 | 0.0027 | 2543 | c.-47 others(2554): Show |
ZNF254 | ENSG00000213096.11 | transcript | ENST00000357002.5 | protein_coding | 4666 | chr19 | TogoVar | |||||||
ZNF254_chr19_24082187_24134968 | 24082520 | G | GGTGCCTG others(2536): Show |
upstream_gene_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0307 | 1 | 371 | 0.0027 | 2543 | c.-47 others(2554): Show |
ZNF254 | ENSG00000213096.11 | transcript | ENST00000357002.5 | protein_coding | 4666 | chr19 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116751395 | C | CGTTTCTT others(2537): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02109.hp1 HG02922.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(5): Show | a0001c0001t0001g0037 a0001c0001t0006g0014 a0001c0001t0007g0078 others(5): Show |
8 | 102 | 0.0784 | 2544 | c.239 others(2565): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 13/22 | chr9 | TogoVar | |||||||
C2orf80_chr2_208160347_208195030 | 208176941 | C | CCGTATAC others(2537): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 | 1 | 342 | 0.0029 | 2544 | c.366 others(2561): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 6/8 | chr2 | TogoVar | |||||||
HAUS4_chr14_22941228_22962090 | 22944955 | A | ATTAAAAA others(2537): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00735.hp1 HG00741.hp1 others(36): Show |
a0001a0004a0005 | a0001c0001a0004c0004a0005c0005 | a0001c0001t0001a0001c0001t0002a0004c0004t0002others(1): Show | a0001c0001t0001g0009 a0001c0001t0001g0086 a0001c0001t0002g0001 others(20): Show |
39 | 317 | 0.1230 | 2544 | c.*15 others(2555): Show |
HAUS4 | ENSG00000092036.19 | transcript | ENST00000541587.6 | protein_coding | 1272 | chr14 | TogoVar | |||||||
HAUS4_chr14_22941228_22962090 | 22944955 | A | ATTAAAAA others(2537): Show |
downstream_gene_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032 | 1 | 317 | 0.0032 | 2544 | c.*15 others(2555): Show |
HAUS4 | ENSG00000092036.19 | transcript | ENST00000541587.6 | protein_coding | 1272 | chr14 | TogoVar | |||||||
LAPTM5_chr1_30727469_30762774 | 30732368 | G | GTGTGGAG others(2537): Show |
downstream_gene_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 421 | 0.0024 | 2544 | c.*14 others(2555): Show |
LAPTM5 | ENSG00000162511.8 | transcript | ENST00000294507.4 | protein_coding | 100 | chr1 | TogoVar | |||||||
LAPTM5_chr1_30727469_30762774 | 30732368 | G | GTGTGGAG others(2537): Show |
downstream_gene_variant | MODIFIER | NA18962.hp1 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0377 | 1 | 421 | 0.0024 | 2544 | c.*14 others(2555): Show |
LAPTM5 | ENSG00000162511.8 | transcript | ENST00000294507.4 | protein_coding | 100 | chr1 | TogoVar | |||||||
LAPTM5_chr1_30727469_30762774 | 30732368 | G | GTGTGGAG others(2537): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG01074.hp1 others(49): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0002a0001c0002t0002a0001c0002t0015others(2): Show | a0001c0001t0002g0060 a0001c0001t0002g0085 a0001c0001t0002g0134 others(44): Show |
52 | 421 | 0.1235 | 2544 | c.*14 others(2555): Show |
LAPTM5 | ENSG00000162511.8 | transcript | ENST00000294507.4 | protein_coding | 100 | chr1 | TogoVar | |||||||
LAPTM5_chr1_30727469_30762774 | 30732368 | G | GTGTGGAG others(2537): Show |
downstream_gene_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0338 | 1 | 421 | 0.0024 | 2544 | c.*14 others(2555): Show |
LAPTM5 | ENSG00000162511.8 | transcript | ENST00000294507.4 | protein_coding | 100 | chr1 | TogoVar | |||||||
LAPTM5_chr1_30727469_30762774 | 30732368 | G | GTGTGGAG others(2537): Show |
downstream_gene_variant | MODIFIER | NA18967.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0264 | 1 | 421 | 0.0024 | 2544 | c.*14 others(2555): Show |
LAPTM5 | ENSG00000162511.8 | transcript | ENST00000294507.4 | protein_coding | 100 | chr1 | TogoVar | |||||||
LAPTM5_chr1_30727469_30762774 | 30732368 | G | GTGTGGAG others(2537): Show |
downstream_gene_variant | MODIFIER | NA18987.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 421 | 0.0024 | 2544 | c.*14 others(2555): Show |
LAPTM5 | ENSG00000162511.8 | transcript | ENST00000294507.4 | protein_coding | 100 | chr1 | TogoVar | |||||||
LAPTM5_chr1_30727469_30762774 | 30732368 | G | GTGTGGAG others(2537): Show |
downstream_gene_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0225 | 1 | 421 | 0.0024 | 2544 | c.*14 others(2555): Show |
LAPTM5 | ENSG00000162511.8 | transcript | ENST00000294507.4 | protein_coding | 100 | chr1 | TogoVar | |||||||
LAPTM5_chr1_30727469_30762774 | 30732368 | G | GTGTGGAG others(2537): Show |
downstream_gene_variant | MODIFIER | HG01074.hp2 HG01168.hp2 HG03239.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0095 a0001c0001t0002g0343 a0001c0002t0002g0048 |
3 | 421 | 0.0071 | 2544 | c.*14 others(2555): Show |
LAPTM5 | ENSG00000162511.8 | transcript | ENST00000294507.4 | protein_coding | 100 | chr1 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195787762 | A | ACTGAGGA others(2537): Show |
conservative_inframe_insertion | MODERATE | NA18974.hp2 | a0133 | a0133c0023 | a0133c0023t0001 | a0133c0023t0001g0170 | 1 | 249 | 0.0040 | 2544 | c.381 others(2553): Show |
p.Ser others(2559): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 3929/16756 | 3817/16239 | 1273/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195787871 | T | TAGTGACA others(2537): Show |
conservative_inframe_insertion | MODERATE | NA19011.hp2 | a0143 | a0143c0167 | a0143c0167t0001 | a0143c0167t0001g0176 | 1 | 249 | 0.0040 | 2544 | c.370 others(2553): Show |
p.Thr others(2559): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 3820/16756 | 3708/16239 | 1236/5412 | chr3 | TogoVar |