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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PADI1_chr1_17200128_17251007 | 17248636 | C | CAAAAAAA others(11): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG00735.hp1 HG01433.hp2 others(7): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0003t0001others(2): Show | a0001c0002t0001g0065a0001c0002t0001g0154a0001c0002t0001g0175others(7): Show | 10 | 406 | 0.0246 | 18 | c.*43 others(29): Show |
PADI1 | ENSG00000142623.11 | transcript | ENST00000375471.5 | protein_coding | 2630 | chr1 | TogoVar | ||||||
PADI2_chr1_17061761_17124451 | 17090581 | T | TTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0302 | 1 | 356 | 0.0028 | 18 | c.655 others(35): Show |
PADI2 | ENSG00000117115.13 | transcript | ENST00000375486.9 | protein_coding | 6/15 | chr1 | TogoVar | ||||||
PADI3_chr1_17244098_17289233 | 17248636 | C | CAAAAAAA others(11): Show |
upstream_gene_variant | MODIFIER | HG00735.hp2 HG01433.hp2 HG02109.hp1 others(8): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0004a0001c0004t0001 | a0001c0001t0002g0015a0001c0001t0002g0046a0001c0001t0002g0049others(8): Show | 11 | 368 | 0.0299 | 18 | c.-50 others(27): Show |
PADI3 | ENSG00000142619.4 | transcript | ENST00000375460.3 | protein_coding | 461 | chr1 | TogoVar | ||||||
PADI6_chr1_17367196_17406699 | 17375975 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01167.hp2 HG02258.hp2 |
a0002a0005 | a0002c0005a0005c0009 | a0002c0005t0002a0005c0009t0002 | a0002c0005t0002g0052a0005c0009t0002g0060 | 2 | 412 | 0.0049 | 18 | c.367 others(33): Show |
PADI6 | ENSG00000276747.1 | transcript | ENST00000619609.1 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PAF1_chr19_39380629_39396106 | 39393081 | C | CTTTTTCT others(11): Show |
upstream_gene_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 368 | 0.0027 | 18 | c.-22 others(29): Show |
PAF1 | ENSG00000006712.15 | transcript | ENST00000221265.8 | protein_coding | 1976 | chr19 | TogoVar | ||||||
PAFAH1B1_chr17_2588654_2690615 | 2593590 | G | GGGCGGCG others(11): Show |
upstream_gene_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0011 | 1 | 280 | 0.0036 | 18 | c.-60 others(27): Show |
PAFAH1B1 | ENSG00000007168.14 | transcript | ENST00000397195.10 | protein_coding | 63 | chr17 | TogoVar | ||||||
PAFAH1B1_chr17_2588654_2690615 | 2664665 | G | GCGCGCTC others(11): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0267 | 1 | 280 | 0.0036 | 18 | c.33- others(31): Show |
PAFAH1B1 | ENSG00000007168.14 | transcript | ENST00000397195.10 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PAFAH1B1_chr17_2588654_2690615 | 2664665 | G | GCTCGCTC others(11): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0135 | 1 | 280 | 0.0036 | 18 | c.33- others(31): Show |
PAFAH1B1 | ENSG00000007168.14 | transcript | ENST00000397195.10 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PAFAH1B1_chr17_2588654_2690615 | 2664665 | G | GCTCGCTC others(11): Show |
intron_variant | MODIFIER | HG02647.hp1 HG03195.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0006a0001c0003t0010 | a0001c0002t0006g0189a0001c0003t0010g0176 | 2 | 280 | 0.0071 | 18 | c.33- others(31): Show |
PAFAH1B1 | ENSG00000007168.14 | transcript | ENST00000397195.10 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PAFAH1B2_chr11_117139287_117176045 | 117149430 | G | GTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG03130.hp1 NA18978.hp1 |
a0001 | a0001c0001 | a0001c0001t0025a0001c0001t0039 | a0001c0001t0025g0122a0001c0001t0039g0109 | 2 | 432 | 0.0046 | 18 | c.-7- others(33): Show |
PAFAH1B2 | ENSG00000168092.14 | transcript | ENST00000527958.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PAFAH1B2_chr11_117139287_117176045 | 117168446 | G | GTTTGTTT others(11): Show |
3_prime_UTR_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0087 | a0001c0001t0087g0080 | 1 | 432 | 0.0023 | 18 | c.*75 others(27): Show |
PAFAH1B2 | ENSG00000168092.14 | transcript | ENST00000527958.6 | protein_coding | 6/6 | 751 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||
PAG1_chr8_80962810_81117068 | 80972940 | C | CGTGTGTG others(11): Show |
3_prime_UTR_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0002 | a0001c0002t0064 | a0001c0002t0064g0008 | 1 | 256 | 0.0039 | 18 | c.*35 others(29): Show |
PAG1 | ENSG00000076641.4 | transcript | ENST00000220597.4 | protein_coding | 9/9 | 3603 | chr8 | TogoVar | |||||
PAH_chr12_102831889_102922244 | 102897492 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02257.hp1 |
a0001a0003 | a0001c0009a0003c0013 | a0001c0009t0013a0003c0013t0005 | a0001c0009t0013g0240a0003c0013t0005g0237 | 2 | 312 | 0.0064 | 18 | c.169 others(35): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | TogoVar | ||||||
PAH_chr12_102831889_102922244 | 102897492 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02451.hp1 HG03486.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0012a0001c0004t0001a0001c0004t0008 | a0001c0001t0012g0146a0001c0004t0001g0103a0001c0004t0001g0144others(1): Show | 4 | 312 | 0.0128 | 18 | c.169 others(35): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | TogoVar | ||||||
PAH_chr12_102831889_102922244 | 102899858 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02622.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0162a0001c0001t0006g0230 | 2 | 312 | 0.0064 | 18 | c.169 others(35): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | TogoVar | ||||||
PAIP1_chr5_43521267_43562077 | 43531656 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | NA18983.hp2 NA19011.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0271a0001c0001t0001g0303 | 2 | 350 | 0.0057 | 18 | c.125 others(37): Show |
PAIP1 | ENSG00000172239.14 | transcript | ENST00000306846.8 | protein_coding | 9/10 | chr5 | TogoVar | ||||||
PAK1_chr11_77317017_77479094 | 77399858 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02109.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0008 | a0001c0001t0001g0225a0001c0002t0008g0025 | 2 | 302 | 0.0066 | 18 | c.-21 others(35): Show |
PAK1 | ENSG00000149269.10 | transcript | ENST00000356341.8 | protein_coding | 1/14 | chr11 | TogoVar | ||||||
PAK1_chr11_77317017_77479094 | 77415976 | G | GTATTATT others(11): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00609.hp1 others(67): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0001g0019a0001c0001t0001g0086a0001c0001t0001g0089others(67): Show | 70 | 302 | 0.2318 | 18 | c.-21 others(37): Show |
PAK1 | ENSG00000149269.10 | transcript | ENST00000356341.8 | protein_coding | 1/14 | chr11 | TogoVar | ||||||
PAK1_chr11_77317017_77479094 | 77429056 | T | TAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01433.hp2 NA18951.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129a0001c0001t0001g0181 | 2 | 302 | 0.0066 | 18 | c.-21 others(37): Show |
PAK1 | ENSG00000149269.10 | transcript | ENST00000356341.8 | protein_coding | 1/14 | chr11 | TogoVar | ||||||
PAK2_chr3_196734857_196837647 | 196751674 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0002 | a0001c0002t0030 | a0001c0002t0030g0131 | 1 | 178 | 0.0056 | 18 | c.-22 others(37): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PAK2_chr3_196734857_196837647 | 196751695 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG02895.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0053 | a0001c0001t0002g0080a0001c0001t0053g0006 | 2 | 178 | 0.0112 | 18 | c.-22 others(37): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1/14 | chr3 | TogoVar | ||||||
PAK2_chr3_196734857_196837647 | 196833456 | A | AATATATA others(11): Show |
downstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0049 | 1 | 178 | 0.0056 | 18 | c.*50 others(29): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 810 | chr3 | TogoVar | ||||||
PAK2_chr3_196734857_196837647 | 196833464 | A | AATATATA others(11): Show |
downstream_gene_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0125 | 1 | 178 | 0.0056 | 18 | c.*50 others(29): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 818 | chr3 | TogoVar | ||||||
PAK2_chr3_196734857_196837647 | 196833466 | A | AATATATA others(11): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 178 | 0.0056 | 18 | c.*50 others(29): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 820 | chr3 | TogoVar | ||||||
PAK2_chr3_196734857_196837647 | 196833472 | A | AATATATA others(11): Show |
downstream_gene_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0007 | 1 | 178 | 0.0056 | 18 | c.*50 others(29): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 826 | chr3 | TogoVar | ||||||
PAK2_chr3_196734857_196837647 | 196834252 | C | CAAAAAAA others(11): Show |
downstream_gene_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0176 | 1 | 178 | 0.0056 | 18 | c.*58 others(29): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 1606 | chr3 | TogoVar | ||||||
PAK3_chrX_111091191_111232361 | 111096869 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG00642.hp1 NA18977.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0005a0001c0001t0002g0004 | 2 | 195 | 0.0103 | 18 | c.-35 others(35): Show |
PAK3 | ENSG00000077264.17 | transcript | ENST00000372007.10 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PAK3_chrX_111091191_111232361 | 111178980 | T | TAGAGAGA others(11): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0020 | 1 | 195 | 0.0051 | 18 | c.830 others(35): Show |
PAK3 | ENSG00000077264.17 | transcript | ENST00000372007.10 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PAK3_chrX_111091191_111232361 | 111178980 | T | TATAGAGA others(11): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0035 | 1 | 195 | 0.0051 | 18 | c.830 others(35): Show |
PAK3 | ENSG00000077264.17 | transcript | ENST00000372007.10 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PAK3_chrX_111091191_111232361 | 111178980 | T | TATATAGA others(11): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 195 | 0.0051 | 18 | c.830 others(35): Show |
PAK3 | ENSG00000077264.17 | transcript | ENST00000372007.10 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PAK3_chrX_111091191_111232361 | 111178980 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02886.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0008 | a0001c0001t0004g0194a0001c0002t0008g0153 | 2 | 195 | 0.0103 | 18 | c.830 others(35): Show |
PAK3 | ENSG00000077264.17 | transcript | ENST00000372007.10 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PAK4_chr19_39120786_39184404 | 39148466 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01891.hp2 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0002a0001c0009t0005 | a0001c0001t0002g0327a0001c0009t0005g0163 | 2 | 368 | 0.0054 | 18 | c.-95 others(37): Show |
PAK4 | ENSG00000130669.17 | transcript | ENST00000360442.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PAK4_chr19_39120786_39184404 | 39165192 | G | GATAATAA others(11): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG00609.hp2 others(53): Show |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0016others(52): Show | 56 | 368 | 0.1522 | 18 | c.-95 others(35): Show |
PAK4 | ENSG00000130669.17 | transcript | ENST00000360442.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PAK4_chr19_39120786_39184404 | 39165195 | G | GATGATGA others(11): Show |
intron_variant | MODIFIER | HG03516.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0017 | a0001c0001t0014g0096a0001c0001t0017g0286 | 2 | 368 | 0.0054 | 18 | c.-95 others(35): Show |
PAK4 | ENSG00000130669.17 | transcript | ENST00000360442.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PAK5_chr20_9532370_9844076 | 9665085 | G | GTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0005 | a0001c0005t0010 | a0001c0005t0010g0064 | 1 | 208 | 0.0048 | 18 | c.-11 others(37): Show |
PAK5 | ENSG00000101349.17 | transcript | ENST00000353224.10 | protein_coding | 2/9 | chr20 | TogoVar | ||||||
PAK5_chr20_9532370_9844076 | 9802910 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01346.hp2 HG02040.hp2 others(3): Show |
a0001a0002 | a0001c0002a0001c0005a0002c0001others(1): Show | a0001c0002t0002a0001c0002t0004a0001c0005t0010others(3): Show | a0001c0002t0002g0103a0001c0002t0004g0086a0001c0005t0010g0159others(3): Show | 6 | 208 | 0.0289 | 18 | c.-16 others(39): Show |
PAK5 | ENSG00000101349.17 | transcript | ENST00000353224.10 | protein_coding | 1/9 | chr20 | TogoVar | ||||||
PAK5_chr20_9532370_9844076 | 9802910 | G | GTGTGTAT others(11): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00639.hp2 HG02615.hp1 others(11): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0001c0005others(5): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0007others(8): Show | a0001c0002t0002g0150a0001c0002t0003g0149a0001c0002t0007g0009others(11): Show | 14 | 208 | 0.0673 | 18 | c.-16 others(39): Show |
PAK5 | ENSG00000101349.17 | transcript | ENST00000353224.10 | protein_coding | 1/9 | chr20 | TogoVar | ||||||
PAK5_chr20_9532370_9844076 | 9802910 | G | GTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG01346.hp1 HG03579.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0007 | a0001c0002t0002g0096a0001c0002t0007g0107 | 2 | 208 | 0.0096 | 18 | c.-16 others(39): Show |
PAK5 | ENSG00000101349.17 | transcript | ENST00000353224.10 | protein_coding | 1/9 | chr20 | TogoVar | ||||||
PAK5_chr20_9532370_9844076 | 9807762 | A | AAATAATA others(11): Show |
intron_variant | MODIFIER | HG00597.hp1 HG02622.hp2 HG03831.hp2 others(3): Show |
a0001a0002 | a0001c0002a0001c0004a0002c0001others(1): Show | a0001c0002t0002a0001c0002t0022a0001c0004t0018others(2): Show | a0001c0002t0002g0134a0001c0002t0022g0109a0001c0004t0018g0040others(3): Show | 6 | 208 | 0.0289 | 18 | c.-16 others(39): Show |
PAK5 | ENSG00000101349.17 | transcript | ENST00000353224.10 | protein_coding | 1/9 | chr20 | TogoVar | ||||||
PAK5_chr20_9532370_9844076 | 9807779 | A | ATAATAAT others(11): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0070 | 1 | 208 | 0.0048 | 18 | c.-16 others(39): Show |
PAK5 | ENSG00000101349.17 | transcript | ENST00000353224.10 | protein_coding | 1/9 | chr20 | TogoVar | ||||||
PAK6_chr15_40234063_40282487 | 40275280 | G | GTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00609.hp1 HG01069.hp2 others(12): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0003c0004others(1): Show | a0001c0001t0013a0001c0001t0015a0001c0001t0033others(6): Show | a0001c0001t0013g0005a0001c0001t0013g0139a0001c0001t0013g0230others(11): Show | 15 | 426 | 0.0352 | 18 | c.187 others(35): Show |
PAK6 | ENSG00000137843.12 | transcript | ENST00000560346.6 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PAK6_chr15_40234063_40282487 | 40276749 | C | CGTGTGTG others(11): Show |
3_prime_UTR_variant | MODIFIER | HG01358.hp1 HG02809.hp1 HG03927.hp1 |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0034a0001c0002t0077a0003c0004t0034 | a0001c0001t0034g0121a0001c0002t0077g0400a0003c0004t0034g0038 | 3 | 426 | 0.0070 | 18 | c.*67 others(27): Show |
PAK6 | ENSG00000137843.12 | transcript | ENST00000560346.6 | protein_coding | 11/11 | 696 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||
PALB2_chr16_23598165_23646310 | 23608797 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01175.hp2 HG01516.hp2 others(29): Show |
a0002a0003a0017 | a0002c0002a0003c0003a0017c0008 | a0002c0002t0001a0003c0003t0002a0017c0008t0001 | a0002c0002t0001g0019a0002c0002t0001g0020a0002c0002t0001g0050others(27): Show | 32 | 326 | 0.0982 | 18 | c.320 others(35): Show |
PALB2 | ENSG00000083093.11 | transcript | ENST00000261584.9 | protein_coding | 11/12 | chr16 | TogoVar | ||||||
PALB2_chr16_23598165_23646310 | 23608799 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02630.hp2 |
a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0153a0002c0006t0001g0292 | 2 | 326 | 0.0061 | 18 | c.320 others(35): Show |
PALB2 | ENSG00000083093.11 | transcript | ENST00000261584.9 | protein_coding | 11/12 | chr16 | TogoVar | ||||||
PALB2_chr16_23598165_23646310 | 23608801 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00733.hp1 HG00741.hp2 others(22): Show |
a0001 | a0001c0001a0001c0019 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0006a0001c0001t0001g0051a0001c0001t0001g0052others(20): Show | 25 | 326 | 0.0767 | 18 | c.320 others(35): Show |
PALB2 | ENSG00000083093.11 | transcript | ENST00000261584.9 | protein_coding | 11/12 | chr16 | TogoVar | ||||||
PALB2_chr16_23598165_23646310 | 23608801 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | NA18954.hp1 NA18970.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 2 | 326 | 0.0061 | 18 | c.320 others(35): Show |
PALB2 | ENSG00000083093.11 | transcript | ENST00000261584.9 | protein_coding | 11/12 | chr16 | TogoVar | ||||||
PALB2_chr16_23598165_23646310 | 23645083 | C | CTATATCT others(11): Show |
upstream_gene_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 326 | 0.0031 | 18 | c.-39 others(29): Show |
PALB2 | ENSG00000083093.11 | transcript | ENST00000261584.9 | protein_coding | 3774 | chr16 | TogoVar | ||||||
PALB2_chr16_23598165_23646310 | 23645137 | A | ATATATAT others(11): Show |
upstream_gene_variant | MODIFIER | NA18965.hp1 NA18965.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177a0001c0001t0001g0213 | 2 | 326 | 0.0061 | 18 | c.-39 others(29): Show |
PALB2 | ENSG00000083093.11 | transcript | ENST00000261584.9 | protein_coding | 3828 | chr16 | TogoVar | ||||||
PALB2_chr16_23598165_23646310 | 23645137 | A | ATATATAT others(11): Show |
upstream_gene_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0234 | 1 | 326 | 0.0031 | 18 | c.-39 others(29): Show |
PALB2 | ENSG00000083093.11 | transcript | ENST00000261584.9 | protein_coding | 3828 | chr16 | TogoVar | ||||||
PALB2_chr16_23598165_23646310 | 23645137 | A | ATATTTTT others(11): Show |
upstream_gene_variant | MODIFIER | HG06807.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0285 | 1 | 326 | 0.0031 | 18 | c.-39 others(29): Show |
PALB2 | ENSG00000083093.11 | transcript | ENST00000261584.9 | protein_coding | 3828 | chr16 | TogoVar |