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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PAFAH1B2_chr11_117139287_117176045 | 117172376 | ATATATAT others(39): Show |
A | downstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 432 | 0.0023 | -46 | c.*46 others(57): Show |
PAFAH1B2 | ENSG00000168092.14 | transcript | ENST00000527958.6 | protein_coding | 1332 | chr11 | TogoVar | |||||||
PAG1_chr8_80962810_81117068 | 81071014 | CTCTTTTC others(39): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01123.hp1 HG01891.hp1 others(19): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0012a0001c0001t0035a0001c0001t0047others(17): Show | a0001c0001t0012g0034 a0001c0001t0035g0003 a0001c0001t0047g0035 others(19): Show |
22 | 256 | 0.0859 | -46 | c.-23 others(63): Show |
PAG1 | ENSG00000076641.4 | transcript | ENST00000220597.4 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
PAH_chr12_102831889_102922244 | 102868130 | ATATATAT others(39): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG01257.hp1 HG02132.hp1 others(7): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0051 a0001c0002t0001g0060 a0001c0002t0001g0063 others(7): Show |
10 | 312 | 0.0321 | -46 | c.442 others(63): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | TogoVar | |||||||
PAK2_chr3_196734857_196837647 | 196806643 | CTGCTCCT others(39): Show |
C | frameshift_variant others(3): Show |
HIGH | HG01981.hp2 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0146 | 1 | 178 | 0.0056 | -46 | c.534 others(55): Show |
p.Ala others(5): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 6/15 | 856/6139 | 534/1575 | 178/524 | chr3 | TogoVar | |||
PAK5_chr20_9532370_9844076 | 9766476 | TATATATA others(39): Show |
T | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0013 | a0001c0013t0010 | a0001c0013t0010g0185 | 1 | 208 | 0.0048 | -46 | c.-16 others(67): Show |
PAK5 | ENSG00000101349.17 | transcript | ENST00000353224.10 | protein_coding | 1/9 | chr20 | TogoVar | |||||||
PALMD_chr1_99641113_99699535 | 99683042 | AAGAAAGA others(39): Show |
A | intron_variant | MODIFIER | HG00621.hp1 HG01070.hp1 HG01109.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 a0001c0001t0001g0118 a0001c0001t0001g0131 others(18): Show |
21 | 380 | 0.0553 | -46 | c.252 others(63): Show |
PALMD | ENSG00000099260.12 | transcript | ENST00000263174.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PAM_chr5_102750305_103034716 | 102882052 | AATATATA others(39): Show |
A | intron_variant | MODIFIER | HG02723.hp1 NA20129.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0003a0003c0003t0001 | a0001c0001t0003g0137 a0003c0003t0001g0040 |
2 | 188 | 0.0106 | -46 | c.210 others(65): Show |
PAM | ENSG00000145730.21 | transcript | ENST00000438793.8 | protein_coding | 3/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69300891 | TTCTTCCT others(39): Show |
T | intron_variant | MODIFIER | HG01433.hp2 HG02257.hp1 NA18969.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0022 | a0001c0001t0001g0108 a0001c0001t0002g0067 a0001c0001t0022g0049 |
3 | 284 | 0.0106 | -46 | c.-27 others(65): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69300902 | TTCCTTCC others(39): Show |
T | intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 284 | 0.0035 | -46 | c.-27 others(65): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69300912 | CCTTTCTC others(39): Show |
C | intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 284 | 0.0035 | -46 | c.-27 others(65): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69382777 | CATATATA others(39): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(168): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 others(168): Show |
171 | 284 | 0.6021 | -46 | c.180 others(63): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 205376392 | AGAGCAGC others(39): Show |
A | intron_variant | MODIFIER | HG00609.hp2 HG02257.hp2 |
a0001 | a0001c0001a0001c0015 | a0001c0001t0002a0001c0015t0006 | a0001c0001t0002g0005 a0001c0015t0006g0024 |
2 | 54 | 0.0370 | -46 | c.263 others(67): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARVB_chr22_44019302_44177939 | 44122516 | GAGACAGA others(39): Show |
G | intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0137 | 1 | 332 | 0.0030 | -46 | c.376 others(63): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PARVB_chr22_44019302_44177939 | 44127742 | ATTGCCCA others(39): Show |
A | intron_variant | MODIFIER | NA19082.hp2 | a0002 | a0002c0003 | a0002c0003t0007 | a0002c0003t0007g0311 | 1 | 332 | 0.0030 | -46 | c.377 others(63): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PARVB_chr22_44019302_44177939 | 44167683 | TGACAGAG others(39): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(111): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0004others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(58): Show | a0001c0001t0001g0050 a0001c0001t0001g0150 a0001c0001t0001g0167 others(111): Show |
114 | 332 | 0.3434 | -46 | c.101 others(63): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PATL1_chr11_59631716_59674037 | 59672320 | ATATATAT others(39): Show |
A | upstream_gene_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 276 | 0.0036 | -46 | c.-34 others(57): Show |
PATL1 | ENSG00000166889.14 | transcript | ENST00000300146.10 | protein_coding | 3284 | chr11 | TogoVar | |||||||
PAWR_chr12_79579879_79695964 | 79613945 | ATATATAT others(39): Show |
A | intron_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0140 | 1 | 256 | 0.0039 | -46 | c.649 others(61): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 3/6 | chr12 | TogoVar | |||||||
PAWR_chr12_79579879_79695964 | 79632296 | CATATATA others(39): Show |
C | intron_variant | MODIFIER | NA18968.hp1 NA18994.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0068 a0001c0001t0002g0072 |
2 | 256 | 0.0078 | -46 | c.517 others(65): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 2/6 | chr12 | TogoVar | |||||||
PAXBP1_chr21_32728899_32776755 | 32771859 | TGAGAGAG others(39): Show |
T | upstream_gene_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 360 | 0.0028 | -46 | c.-23 others(55): Show |
PAXBP1 | ENSG00000159086.15 | transcript | ENST00000331923.9 | protein_coding | 105 | chr21 | TogoVar | |||||||
PAXBP1_chr21_32728899_32776755 | 32771903 | AGAGAGAG others(39): Show |
A | upstream_gene_variant | MODIFIER | HG01255.hp1 HG01975.hp2 NA18943.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0001 a0001c0001t0001g0133 a0001c0001t0001g0149 others(1): Show |
4 | 360 | 0.0111 | -46 | c.-28 others(55): Show |
PAXBP1 | ENSG00000159086.15 | transcript | ENST00000331923.9 | protein_coding | 149 | chr21 | TogoVar | |||||||
PCBP3_chr21_45638725_45947450 | 45815584 | AGTGAGTG others(39): Show |
A | intron_variant | MODIFIER | HG00544.hp2 NA18941.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0006 | a0001c0001t0001g0123 a0001c0002t0006g0006 |
2 | 292 | 0.0069 | -46 | c.-12 others(67): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45871080 | AGTGCAGC others(39): Show |
A | intron_variant | MODIFIER | HG02559.hp2 HG03098.hp1 |
a0001 | a0001c0003 | a0001c0003t0014 | a0001c0003t0014g0290 a0001c0003t0014g0291 |
2 | 292 | 0.0069 | -46 | c.10+ others(63): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCCA_chr13_100084093_100535435 | 100264150 | TATATATA others(39): Show |
T | intron_variant | MODIFIER | HG03540.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0118 | 1 | 174 | 0.0058 | -46 | c.819 others(63): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 10/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PCCA_chr13_100084093_100535435 | 100264160 | GTATCTGT others(39): Show |
G | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 174 | 0.0058 | -46 | c.819 others(63): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 10/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PCDH15_chr10_53797771_54806231 | 54242145 | TATATATA others(39): Show |
T | intron_variant | MODIFIER | HG03225.hp2 | a0029 | a0029c0026 | a0029c0026t0008 | a0029c0026t0008g0081 | 1 | 102 | 0.0098 | -46 | c.877 others(63): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 8/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53816099_54806231 | 54242145 | TATATATA others(39): Show |
T | intron_variant | MODIFIER | HG03225.hp2 | a0022 | a0022c0033 | a0022c0033t0001 | a0022c0033t0001g0073 | 1 | 94 | 0.0106 | -46 | c.877 others(63): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 8/32 | chr10 | TogoVar | |||||||
PDCD6_chr5_266646_319974 | 284641 | GTGCAGCT others(39): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp2 HG00733.hp2 others(71): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0002c0004others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0002g0008 a0001c0001t0002g0065 a0001c0001t0002g0066 others(68): Show |
74 | 360 | 0.2056 | -46 | c.163 others(65): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDE6B_chr4_620573_675782 | 657823 | GGGGGCAG others(39): Show |
G | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0048 | 1 | 308 | 0.0033 | -46 | c.140 others(63): Show |
PDE6B | ENSG00000133256.13 | transcript | ENST00000496514.6 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PDGFA_chr7_492258_524846 | 511290 | GGTGGGGA others(39): Show |
G | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0133 | a0001c0001t0133g0265 | 1 | 302 | 0.0033 | -46 | c.266 others(61): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 3/5 | chr7 | TogoVar | |||||||
PDIA2_chr16_278164_292215 | 285917 | CGCGGTTC others(39): Show |
C | intron_variant | MODIFIER | HG02622.hp2 | a0012 | a0012c0020 | a0012c0020t0001 | a0012c0020t0001g0089 | 1 | 436 | 0.0023 | -46 | c.111 others(63): Show |
PDIA2 | ENSG00000185615.16 | transcript | ENST00000219406.11 | protein_coding | 7/10 | chr16 | TogoVar | |||||||
PDXK_chr21_43714129_43767299 | 43741349 | CGGGGGGG others(39): Show |
C | intron_variant | MODIFIER | HG02083.hp2 NA18747.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0285 a0001c0001t0001g0292 |
2 | 358 | 0.0056 | -46 | c.143 others(61): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDZD7_chr10_101002679_101036129 | 101017867 | GAAAGAAA others(39): Show |
G | intron_variant | MODIFIER | HG02559.hp2 HG02809.hp2 HG02970.hp1 |
a0002a0004 | a0002c0008a0004c0004 | a0002c0008t0004a0004c0004t0004a0004c0004t0010 | a0002c0008t0004g0025 a0004c0004t0004g0030 a0004c0004t0010g0164 |
3 | 432 | 0.0069 | -46 | c.152 others(63): Show |
PDZD7 | ENSG00000186862.20 | transcript | ENST00000619208.6 | protein_coding | 9/16 | chr10 | TogoVar | |||||||
PDZRN4_chr12_41183320_41579745 | 41540863 | CGTTGTTG others(39): Show |
C | intron_variant | MODIFIER | HG01192.hp2 HG02055.hp2 HG03209.hp1 others(1): Show |
a0001a0004a0008others(1): Show | a0001c0044a0004c0009a0008c0059others(1): Show | a0001c0044t0001a0004c0009t0001a0008c0059t0001others(1): Show | a0001c0044t0001g0107 a0004c0009t0001g0124 a0008c0059t0001g0160 others(1): Show |
4 | 206 | 0.0194 | -46 | c.120 others(67): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PER3_chr1_7779291_7850177 | 7782289 | ACTTCCTC others(39): Show |
A | upstream_gene_variant | MODIFIER | HG02818.hp1 HG03098.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0269 a0002c0002t0001g0270 |
2 | 410 | 0.0049 | -46 | c.-23 others(57): Show |
PER3 | ENSG00000049246.15 | transcript | ENST00000377532.8 | protein_coding | 2001 | chr1 | TogoVar | |||||||
PGC_chr6_41731711_41752397 | 41738156 | ACATATAT others(39): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG01891.hp2 HG02280.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0231 a0001c0002t0001g0090 a0001c0002t0001g0092 others(3): Show |
6 | 464 | 0.0129 | -46 | c.916 others(61): Show |
PGC | ENSG00000096088.16 | transcript | ENST00000373025.7 | protein_coding | 7/8 | chr6 | TogoVar | |||||||
PGM5_chr9_68351611_68536061 | 68406660 | GTATATAT others(39): Show |
G | intron_variant | MODIFIER | HG01255.hp2 HG02895.hp2 HG03486.hp2 |
a0001 | a0001c0005 | a0001c0005t0009 | a0001c0005t0009g0208 a0001c0005t0009g0209 a0001c0005t0009g0210 |
3 | 246 | 0.0122 | -46 | c.104 others(67): Show |
PGM5 | ENSG00000154330.13 | transcript | ENST00000396396.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PGR_chr11_101024624_101134813 | 101134493 | TTTTACAT others(39): Show |
T | upstream_gene_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0089 | a0001c0001t0089g0235 | 1 | 254 | 0.0039 | -46 | c.-54 others(57): Show |
PGR | ENSG00000082175.16 | transcript | ENST00000325455.10 | protein_coding | 4681 | chr11 | TogoVar | |||||||
PHACTR1_chr6_12711767_13292837 | 13064560 | ATATATAT others(39): Show |
A | intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0066 | 1 | 108 | 0.0093 | -46 | c.415 others(65): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR1_chr6_12711767_13292837 | 13064572 | ATATATAT others(39): Show |
A | intron_variant | MODIFIER | HG03540.hp2 NA18983.hp1 NA20300.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0003t0001 | a0001c0001t0002g0027 a0001c0001t0003g0023 a0001c0003t0001g0054 |
3 | 108 | 0.0278 | -46 | c.415 others(65): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR2_chr6_143672965_143836185 | 143771148 | ATATATAT others(39): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00558.hp1 HG00639.hp1 others(60): Show |
a0001a0005a0011 | a0001c0001a0001c0003a0005c0008others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0013others(41): Show | a0001c0001t0001g0061 a0001c0001t0001g0184 a0001c0001t0006g0159 others(60): Show |
63 | 310 | 0.2032 | -46 | c.123 others(65): Show |
PHACTR2 | ENSG00000112419.15 | transcript | ENST00000440869.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PI4K2A_chr10_97635671_97681434 | 97678880 | GGTGTGTG others(39): Show |
G | downstream_gene_variant | MODIFIER | HG01517.hp1 HG02258.hp2 HG02280.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0013a0001c0003t0003 | a0001c0001t0001g0188 a0001c0001t0001g0203 a0001c0001t0013g0277 others(1): Show |
4 | 350 | 0.0114 | -46 | c.*51 others(57): Show |
PI4K2A | ENSG00000155252.14 | transcript | ENST00000370631.4 | protein_coding | 2447 | chr10 | TogoVar | |||||||
PID1_chr2_229018973_229276287 | 229139023 | GAAAGAAA others(39): Show |
G | intron_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 256 | 0.0039 | -46 | c.177 others(65): Show |
PID1 | ENSG00000153823.19 | transcript | ENST00000392055.8 | protein_coding | 2/2 | chr2 | TogoVar | |||||||
PID1_chr2_229018973_229276287 | 229139027 | GAAAGAAA others(39): Show |
G | intron_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212 | 1 | 256 | 0.0039 | -46 | c.177 others(65): Show |
PID1 | ENSG00000153823.19 | transcript | ENST00000392055.8 | protein_coding | 2/2 | chr2 | TogoVar | |||||||
PID1_chr2_229018973_229276287 | 229139031 | GAAAGAAA others(39): Show |
G | intron_variant | MODIFIER | HG01106.hp1 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0016 a0001c0001t0002g0135 |
2 | 256 | 0.0078 | -46 | c.177 others(65): Show |
PID1 | ENSG00000153823.19 | transcript | ENST00000392055.8 | protein_coding | 2/2 | chr2 | TogoVar | |||||||
PIEZO2_chr18_10665247_11154569 | 10720397 | GTGTGTGT others(39): Show |
G | intron_variant | MODIFIER | HG03041.hp2 HG03453.hp1 |
a0001a0002 | a0001c0059a0002c0023 | a0001c0059t0003a0002c0023t0002 | a0001c0059t0003g0110 a0002c0023t0002g0103 |
2 | 158 | 0.0127 | -46 | c.503 others(65): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 36/55 | chr18 | TogoVar | |||||||
PIEZO2_chr18_10665247_11154569 | 10720401 | GTGTATGT others(39): Show |
G | intron_variant | MODIFIER | HG02622.hp2 HG02976.hp2 HG03471.hp2 |
a0001a0002 | a0001c0003a0002c0018 | a0001c0003t0002a0002c0018t0001a0002c0018t0002 | a0001c0003t0002g0147 a0002c0018t0001g0026 a0002c0018t0002g0068 |
3 | 158 | 0.0190 | -46 | c.503 others(65): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 36/55 | chr18 | TogoVar | |||||||
PIEZO2_chr18_10665247_11154569 | 10720403 | GTATGTGT others(39): Show |
G | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0102 | 1 | 158 | 0.0063 | -46 | c.503 others(65): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 36/55 | chr18 | TogoVar | |||||||
PIGC_chr1_172436457_172449069 | 172446694 | GCCTTTGG others(39): Show |
G | upstream_gene_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 388 | 0.0026 | -46 | c.-29 others(57): Show |
PIGC | ENSG00000135845.10 | transcript | ENST00000344529.5 | protein_coding | 2626 | chr1 | TogoVar | |||||||
PIGK_chr1_77083989_77224430 | 77189714 | TATATATA others(39): Show |
T | intron_variant | MODIFIER | NA18943.hp1 NA18989.hp2 NA18990.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 |
3 | 366 | 0.0082 | -46 | c.239 others(65): Show |
PIGK | ENSG00000142892.15 | transcript | ENST00000370812.8 | protein_coding | 3/10 | chr1 | TogoVar | |||||||
PIGS_chr17_28548387_28576524 | 28554895 | CCAGAAGC others(39): Show |
C | frameshift_variant | HIGH | NA18977.hp1 | a0007 | a0007c0007 | a0007c0007t0014 | a0007c0007t0014g0146 | 1 | 330 | 0.0030 | -46 | c.130 others(55): Show |
p.Asn others(5): Show |
PIGS | ENSG00000087111.22 | transcript | ENST00000308360.8 | protein_coding | 11/12 | 1375/2529 | 1302/1668 | 434/555 | chr17 | TogoVar |