| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| PARVB_chr22_44019302_44177939 | 44040255 | GTGATTAG others(15): Show |
G | intron_variant | MODIFIER | HG02622.hp1 HG02886.hp2 HG03225.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0013a0001c0001t0053a0001c0002t0001 | a0001c0001t0013g0124a0001c0001t0053g0126a0001c0002t0001g0123others(1): Show | 4 | 332 | 0.0121 | -22 | c.112 others(41): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| PARVB_chr22_44019302_44177939 | 44122506 | GAGAGAGA others(15): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00609.hp2 HG00741.hp2 others(21): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0314a0001c0001t0002g0198a0001c0001t0003g0121others(21): Show | 24 | 332 | 0.0723 | -22 | c.376 others(39): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| PARVB_chr22_44019302_44177939 | 44130891 | GATTAGTG others(15): Show |
G | intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0011 | 1 | 332 | 0.0030 | -22 | c.377 others(37): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 4/12 | chr22 | TogoVar | ||||||
| PASK_chr2_241101099_241154472 | 241113365 | CATATACA others(15): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00558.hp2 others(133): Show |
a0001a0003a0004others(12): Show | a0001c0012a0003c0003a0003c0008others(27): Show | a0001c0012t0001a0003c0003t0002a0003c0008t0001others(29): Show | a0001c0012t0001g0158a0003c0003t0002g0002a0003c0003t0002g0046others(120): Show | 136 | 376 | 0.3617 | -22 | c.333 others(39): Show |
PASK | ENSG00000115687.14 | transcript | ENST00000234040.9 | protein_coding | 14/17 | chr2 | TogoVar | ||||||
| PATJ_chr1_61737480_62168915 | 61796692 | TTCTTTCT others(15): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG01081.hp1 HG01123.hp1 others(1): Show |
a0030a0031a0032others(1): Show | a0030c0075a0031c0130a0032c0131others(1): Show | a0030c0075t0003a0031c0130t0001a0032c0131t0004others(1): Show | a0030c0075t0003g0089a0031c0130t0001g0056a0032c0131t0004g0086others(1): Show | 4 | 158 | 0.0253 | -22 | c.126 others(39): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 10/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PATJ_chr1_61737480_62168915 | 61813334 | CATATATA others(15): Show |
C | intron_variant | MODIFIER | HG02523.hp1 | a0003 | a0003c0009 | a0003c0009t0011 | a0003c0009t0011g0065 | 1 | 158 | 0.0063 | -22 | c.168 others(41): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 14/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PATJ_chr1_61737480_62168915 | 62024657 | AACACACA others(15): Show |
A | intron_variant | MODIFIER | HG03041.hp2 | a0036 | a0036c0019 | a0036c0019t0001 | a0036c0019t0001g0141 | 1 | 158 | 0.0063 | -22 | c.395 others(41): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 29/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PATJ_chr1_61737480_62168915 | 62094558 | AACACACA others(15): Show |
A | intron_variant | MODIFIER | HG02040.hp1 HG02523.hp1 NA19056.hp1 |
a0003a0006 | a0003c0009a0006c0068 | a0003c0009t0011a0006c0068t0011 | a0003c0009t0011g0038a0003c0009t0011g0065a0006c0068t0011g0097 | 3 | 158 | 0.0190 | -22 | c.437 others(41): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 33/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PAWR_chr12_79579879_79695964 | 79613931 | TTATATAT others(15): Show |
T | intron_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0133 | 1 | 256 | 0.0039 | -22 | c.649 others(37): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 3/6 | chr12 | TogoVar | ||||||
| PAWR_chr12_79579879_79695964 | 79613969 | ATATATAT others(15): Show |
A | intron_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0043 | 1 | 256 | 0.0039 | -22 | c.649 others(37): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 3/6 | chr12 | TogoVar | ||||||
| PAWR_chr12_79579879_79695964 | 79632290 | TATATACA others(15): Show |
T | intron_variant | MODIFIER | HG02572.hp1 HG02647.hp2 HG03139.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0170a0002c0002t0001g0172a0002c0002t0001g0253 | 3 | 256 | 0.0117 | -22 | c.517 others(41): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 2/6 | chr12 | TogoVar | ||||||
| PAWR_chr12_79579879_79695964 | 79632296 | CATATATA others(15): Show |
C | intron_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0086 | 1 | 256 | 0.0039 | -22 | c.517 others(41): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 2/6 | chr12 | TogoVar | ||||||
| PAWR_chr12_79579879_79695964 | 79632341 | ATATATAT others(15): Show |
A | intron_variant | MODIFIER | HG00544.hp1 NA18967.hp1 NA19002.hp1 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0003 | a0001c0003t0002g0155a0001c0003t0003g0131a0001c0003t0003g0132others(2): Show | 5 | 256 | 0.0195 | -22 | c.517 others(41): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 2/6 | chr12 | TogoVar | ||||||
| PAX2_chr10_100740582_100834944 | 100824353 | TACACACA others(15): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG02886.hp2 HG02896.hp1 others(1): Show |
a0001a0002 | a0001c0002a0002c0005 | a0001c0002t0008a0001c0002t0047a0002c0005t0008 | a0001c0002t0008g0095a0001c0002t0047g0210a0002c0005t0008g0172others(1): Show | 4 | 232 | 0.0172 | -22 | c.920 others(37): Show |
PAX2 | ENSG00000075891.24 | transcript | ENST00000355243.8 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| PAX3_chr2_222194887_222303998 | 222203012 | CATATATA others(15): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG01975.hp1 HG02055.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0005a0001c0002t0005a0001c0003t0005 | a0001c0001t0005g0063a0001c0001t0005g0090a0001c0001t0005g0110others(15): Show | 18 | 328 | 0.0549 | -22 | c.117 others(39): Show |
PAX3 | ENSG00000135903.20 | transcript | ENST00000392070.7 | protein_coding | 7/8 | chr2 | TogoVar | ||||||
| PAX3_chr2_222194887_222303998 | 222299317 | CTGTGTGT others(15): Show |
C | upstream_gene_variant | MODIFIER | HG02615.hp1 HG02896.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0004 | 2 | 328 | 0.0061 | -22 | c.-72 others(31): Show |
PAX3 | ENSG00000135903.20 | transcript | ENST00000392070.7 | protein_coding | 320 | chr2 | TogoVar | ||||||
| PAX6_chr11_31784026_31816322 | 31794420 | CCACACAC others(15): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG01433.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0038a0001c0001t0001g0125a0001c0001t0001g0132others(10): Show | 15 | 376 | 0.0399 | -22 | c.724 others(37): Show |
PAX6 | ENSG00000007372.25 | transcript | ENST00000640368.2 | protein_coding | 9/13 | chr11 | TogoVar | ||||||
| PAXBP1_chr21_32728899_32776755 | 32771951 | AGAGAGAG others(15): Show |
A | upstream_gene_variant | MODIFIER | HG00642.hp1 HG00733.hp1 HG00733.hp2 others(15): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0002c0005t0001 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0008others(10): Show | 18 | 360 | 0.0500 | -22 | c.-30 others(31): Show |
PAXBP1 | ENSG00000159086.15 | transcript | ENST00000331923.9 | protein_coding | 197 | chr21 | TogoVar | ||||||
| PBLD_chr10_68277660_68337928 | 68330709 | CGTGTGTG others(15): Show |
C | intron_variant | MODIFIER | HG01081.hp1 HG02630.hp2 HG02723.hp2 others(7): Show |
a0001a0002a0005 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0002others(1): Show | a0001c0001t0001g0293a0001c0004t0001g0294a0001c0004t0001g0295others(7): Show | 10 | 364 | 0.0275 | -22 | c.-60 others(39): Show |
PBLD | ENSG00000108187.16 | transcript | ENST00000358769.7 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
| PBRM1_chr3_52540367_52690913 | 52563056 | TTAAATTA others(15): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG01074.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0030a0001c0001t0002g0031a0001c0001t0002g0032others(5): Show | 8 | 300 | 0.0267 | -22 | c.413 others(39): Show |
PBRM1 | ENSG00000163939.19 | transcript | ENST00000707071.1 | protein_coding | 26/31 | chr3 | TogoVar | ||||||
| PBRM1_chr3_52540367_52690913 | 52596436 | CAAAAAAA others(15): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG01074.hp1 HG01243.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0002a0001c0003t0001a0001c0003t0016others(1): Show | a0001c0001t0002g0053a0001c0003t0001g0237a0001c0003t0001g0238others(6): Show | 9 | 300 | 0.0300 | -22 | c.282 others(41): Show |
PBRM1 | ENSG00000163939.19 | transcript | ENST00000707071.1 | protein_coding | 19/31 | chr3 | TogoVar | ||||||
| PBX1_chr1_164554184_164856831 | 164724670 | ATTTTTTT others(15): Show |
A | intron_variant | MODIFIER | HG02015.hp1 HG02145.hp1 HG02647.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0136a0001c0001t0001g0144a0001c0001t0002g0004others(9): Show | 12 | 184 | 0.0652 | -22 | c.266 others(41): Show |
PBX1 | ENSG00000185630.20 | transcript | ENST00000420696.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PBX3_chr9_125742373_125972377 | 125943352 | CAAAAAAA others(15): Show |
C | intron_variant | MODIFIER | HG03195.hp2 HG03540.hp1 NA18971.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0202a0001c0001t0001g0276a0001c0001t0006g0201 | 3 | 294 | 0.0102 | -22 | c.843 others(39): Show |
PBX3 | ENSG00000167081.18 | transcript | ENST00000373489.10 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| PBX4_chr19_19556713_19623687 | 19556747 | CAAAAAAA others(15): Show |
C | downstream_gene_variant | MODIFIER | HG03927.hp1 HG06807.hp1 NA19091.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019a0001c0001t0001g0131a0001c0001t0001g0308 | 3 | 376 | 0.0080 | -22 | c.*52 others(33): Show |
PBX4 | ENSG00000105717.14 | transcript | ENST00000251203.14 | protein_coding | 4965 | chr19 | TogoVar | ||||||
| PCARE_chr2_29056695_29079523 | 29058893 | TTGTGTGT others(15): Show |
T | downstream_gene_variant | MODIFIER | HG01175.hp2 HG01433.hp1 HG01516.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0018 | a0001c0001t0002g0002a0001c0001t0018g0021 | 6 | 464 | 0.0129 | -22 | c.*59 others(33): Show |
PCARE | ENSG00000179270.7 | transcript | ENST00000331664.6 | protein_coding | 2801 | chr2 | TogoVar | ||||||
| PCBP3_chr21_45638725_45947450 | 45815178 | GGTGAGTG others(15): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00544.hp1 others(94): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0120a0001c0001t0001g0121a0001c0001t0001g0122others(94): Show | 97 | 292 | 0.3322 | -22 | c.-12 others(43): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| PCBP3_chr21_45638725_45947450 | 45869100 | TATCTGTA others(15): Show |
T | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0002 | 1 | 292 | 0.0034 | -22 | c.10+ others(39): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 5/17 | chr21 | TogoVar | ||||||
| PCCA_chr13_100084093_100535435 | 100263881 | GGTATCTG others(15): Show |
G | intron_variant | MODIFIER | HG02735.hp1 HG03654.hp2 HG03834.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0035a0001c0001t0001g0036a0001c0001t0001g0139others(2): Show | 5 | 174 | 0.0287 | -22 | c.819 others(39): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 10/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| PCCA_chr13_100084093_100535435 | 100263920 | GATACGGT others(15): Show |
G | intron_variant | MODIFIER | HG02886.hp2 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0120a0001c0001t0004g0121 | 2 | 174 | 0.0115 | -22 | c.819 others(39): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 10/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| PCCA_chr13_100084093_100535435 | 100264174 | TATATATG others(15): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp2 HG01884.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0019a0001c0001t0001g0024a0001c0001t0001g0029others(16): Show | 19 | 174 | 0.1092 | -22 | c.819 others(39): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 10/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| PCCA_chr13_100084093_100535435 | 100440156 | TTATATAT others(15): Show |
T | intron_variant | MODIFIER | HG02486.hp2 HG02572.hp1 HG02615.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0005a0001c0001t0001g0067a0001c0001t0001g0119others(3): Show | 6 | 174 | 0.0345 | -22 | c.184 others(41): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| PCCA_chr13_100084093_100535435 | 100440189 | TATATATA others(15): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG03139.hp1 NA18906.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0017a0002c0003t0001g0050a0002c0003t0001g0051others(1): Show | 4 | 174 | 0.0230 | -22 | c.184 others(41): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| PCCA_chr13_100084093_100535435 | 100458419 | GCGCGCAC others(15): Show |
G | intron_variant | MODIFIER | HG03195.hp1 HG03486.hp1 HG03486.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0069a0001c0001t0001g0122a0001c0001t0001g0146others(1): Show | 4 | 174 | 0.0230 | -22 | c.189 others(41): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| PCCA_chr13_100084093_100535435 | 100458440 | TACACACA others(15): Show |
T | intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 174 | 0.0058 | -22 | c.189 others(41): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| PCDH11X_chrX_91774375_92628230 | 92132622 | AATATATA others(15): Show |
A | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 154 | 0.0065 | -22 | c.303 others(43): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| PCDH11X_chrX_91774375_92628230 | 92412509 | GTATATAT others(15): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG02451.hp2 HG02895.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0012others(1): Show | a0001c0001t0001g0047a0001c0001t0006g0053a0001c0001t0012g0052others(1): Show | 4 | 154 | 0.0260 | -22 | c.334 others(43): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| PCDH11X_chrX_91774375_92628230 | 92484118 | AGTATATA others(15): Show |
A | intron_variant | MODIFIER | HG02630.hp1 HG02717.hp1 HG06807.hp2 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0005a0001c0001t0022a0001c0009t0031 | a0001c0001t0005g0050a0001c0001t0022g0023a0001c0009t0031g0044 | 3 | 154 | 0.0195 | -22 | c.336 others(43): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| PCDH11X_chrX_91774375_92628230 | 92484169 | ATATATAT others(15): Show |
A | intron_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 154 | 0.0065 | -22 | c.336 others(43): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| PCDH11X_chrX_91774375_92628230 | 92499636 | CAAAAAAA others(15): Show |
C | intron_variant | MODIFIER | HG02717.hp1 HG02809.hp2 HG03710.hp1 others(1): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0022others(1): Show | a0001c0001t0001g0131a0001c0001t0002g0048a0001c0001t0022g0023others(1): Show | 4 | 154 | 0.0260 | -22 | c.336 others(43): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| PCDH11Y_chrY_4995296_5747224 | 5393657 | CAAAAAAA others(15): Show |
C | intron_variant | MODIFIER | HG00621.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0057 | 1 | 115 | 0.0087 | -22 | c.285 others(45): Show |
PCDH11Y | ENSG00000099715.15 | transcript | ENST00000698851.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
| PCDH11Y_chrY_4995296_5747224 | 5486686 | TATATATA others(15): Show |
T | intron_variant | MODIFIER | HG02486.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103a0001c0001t0001g0108 | 2 | 115 | 0.0174 | -22 | c.285 others(43): Show |
PCDH11Y | ENSG00000099715.15 | transcript | ENST00000698851.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
| PCDH15_chr10_53797771_54806231 | 53851671 | AATATATA others(15): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG02145.hp2 NA19240.hp1 |
a0001a0016a0022 | a0001c0001a0016c0012a0022c0028 | a0001c0001t0014a0016c0012t0001a0022c0028t0004 | a0001c0001t0014g0067a0016c0012t0001g0008a0022c0028t0004g0013 | 3 | 102 | 0.0294 | -22 | c.380 others(41): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 28/37 | chr10 | TogoVar | ||||||
| PCDH15_chr10_53797771_54806231 | 53918713 | AACACACA others(15): Show |
A | intron_variant | MODIFIER | HG01192.hp2 HG01243.hp2 HG01884.hp2 others(17): Show |
a0001a0002a0004others(10): Show | a0001c0001a0002c0002a0004c0004others(10): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0004others(16): Show | a0001c0001t0001g0089a0001c0001t0001g0090a0001c0001t0003g0087others(17): Show | 20 | 102 | 0.1961 | -22 | c.337 others(43): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 25/37 | chr10 | TogoVar | ||||||
| PCDH15_chr10_53797771_54806231 | 53945837 | GTATATAT others(15): Show |
G | intron_variant | MODIFIER | HG02965.hp1 HG03486.hp2 |
a0004 | a0004c0004 | a0004c0004t0005a0004c0004t0025 | a0004c0004t0005g0057a0004c0004t0025g0032 | 2 | 102 | 0.0196 | -22 | c.312 others(41): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 23/37 | chr10 | TogoVar | ||||||
| PCDH15_chr10_53797771_54806231 | 54242124 | CTATTTTT others(15): Show |
C | intron_variant | MODIFIER | HG03209.hp2 | a0017 | a0017c0011 | a0017c0011t0012 | a0017c0011t0012g0086 | 1 | 102 | 0.0098 | -22 | c.877 others(39): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 8/37 | chr10 | TogoVar | ||||||
| PCDH15_chr10_53797771_54806231 | 54242128 | TTTTATAT others(15): Show |
T | intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0042 | a0001c0042t0016 | a0001c0042t0016g0002 | 1 | 102 | 0.0098 | -22 | c.877 others(39): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 8/37 | chr10 | TogoVar | ||||||
| PCDH15_chr10_53797771_54806231 | 54316529 | TACACACA others(15): Show |
T | intron_variant | MODIFIER | HG02145.hp2 HG02886.hp2 HG02922.hp1 others(2): Show |
a0001a0005a0022others(1): Show | a0001c0001a0005c0005a0022c0028others(1): Show | a0001c0001t0001a0001c0001t0003a0005c0005t0004others(2): Show | a0001c0001t0001g0101a0001c0001t0003g0087a0005c0005t0004g0076others(2): Show | 5 | 102 | 0.0490 | -22 | c.876 others(37): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 8/37 | chr10 | TogoVar | ||||||
| PCDH15_chr10_53797771_54806231 | 54418058 | AGCCACTG others(15): Show |
A | intron_variant | MODIFIER | HG01081.hp1 | a0014 | a0014c0014 | a0014c0014t0001 | a0014c0014t0001g0012 | 1 | 102 | 0.0098 | -22 | c.158 others(41): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 3/37 | chr10 | TogoVar | ||||||
| PCDH15_chr10_53797771_54806231 | 54442414 | CTATATAT others(15): Show |
C | intron_variant | MODIFIER | HG03471.hp2 | a0005 | a0005c0005 | a0005c0005t0004 | a0005c0005t0004g0076 | 1 | 102 | 0.0098 | -22 | c.158 others(41): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 3/37 | chr10 | TogoVar | ||||||
| PCDH15_chr10_53797771_54806231 | 54709972 | TATGTAAT others(15): Show |
T | intron_variant | MODIFIER | NA18906.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0041 | 1 | 102 | 0.0098 | -22 | c.-28 others(41): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 1/37 | chr10 | TogoVar |