| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| OTOA_chr16_21658968_21765729 | 21675063 | GTCTTTCT others(17): Show |
G | intron_variant | MODIFIER | HG00544.hp1 HG00609.hp1 HG02040.hp2 others(12): Show |
a0001a0008 | a0001c0001a0001c0002a0008c0014 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0307a0001c0001t0001g0310a0001c0001t0001g0313others(12): Show | 15 | 320 | 0.0469 | -24 | c.-4- others(39): Show |
OTOA | ENSG00000155719.18 | transcript | ENST00000646100.2 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| OTOF_chr2_26452203_26483124 | 26476625 | CCCCCACC others(17): Show |
C | intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0095 | 1 | 330 | 0.0030 | -24 | c.435 others(39): Show |
OTOF | ENSG00000115155.19 | transcript | ENST00000339598.8 | protein_coding | 5/28 | chr2 | TogoVar | ||||||
| OTOF_chr2_26452203_26483124 | 26482644 | TGCATGTG others(17): Show |
T | upstream_gene_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 330 | 0.0030 | -24 | c.-48 others(35): Show |
OTOF | ENSG00000115155.19 | transcript | ENST00000339598.8 | protein_coding | 4521 | chr2 | TogoVar | ||||||
| OTOF_chr2_26452203_26563756 | 26482857 | ATGCATGT others(17): Show |
A | intron_variant | MODIFIER | NA18956.hp1 | a0004 | a0004c0024 | a0004c0024t0001 | a0004c0024t0001g0062 | 1 | 284 | 0.0035 | -24 | c.139 others(41): Show |
OTOF | ENSG00000115155.19 | transcript | ENST00000272371.7 | protein_coding | 13/46 | chr2 | TogoVar | ||||||
| OTOGL_chr12_80094537_80385880 | 80170195 | GTGTGTGT others(17): Show |
G | intron_variant | MODIFIER | HG00621.hp1 HG01261.hp1 HG01884.hp2 others(29): Show |
a0001a0002a0003others(10): Show | a0001c0001a0002c0003a0002c0006others(14): Show | a0001c0001t0001a0001c0001t0011a0002c0003t0002others(17): Show | a0001c0001t0001g0042a0001c0001t0001g0057a0001c0001t0001g0067others(29): Show | 32 | 168 | 0.1905 | -24 | c.-19 others(43): Show |
OTOGL | ENSG00000165899.12 | transcript | ENST00000547103.7 | protein_coding | 1/58 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| OTOG_chr11_17542259_17651044 | 17613350 | TTCCTTCC others(17): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG02647.hp1 HG02922.hp1 |
a0013a0076 | a0013c0119a0013c0147a0076c0146 | a0013c0119t0001a0013c0147t0001a0076c0146t0002 | a0013c0119t0001g0155a0013c0147t0001g0119a0076c0146t0002g0034 | 3 | 268 | 0.0112 | -24 | c.643 others(41): Show |
OTOG | ENSG00000188162.12 | transcript | ENST00000399397.6 | protein_coding | 38/55 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| OTOG_chr11_17542259_17651044 | 17639869 | GTGATGGT others(17): Show |
G | intron_variant | MODIFIER | HG03130.hp1 NA20300.hp1 |
a0034 | a0034c0031 | a0034c0031t0001 | a0034c0031t0001g0035a0034c0031t0001g0039 | 2 | 268 | 0.0075 | -24 | c.793 others(41): Show |
OTOG | ENSG00000188162.12 | transcript | ENST00000399397.6 | protein_coding | 49/55 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| OTUD7A_chr15_31470398_31875673 | 31570442 | TACACACA others(17): Show |
T | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01981.hp1 others(7): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0080a0001c0002t0081a0001c0004t0051others(6): Show | a0001c0001t0080g0020a0001c0002t0081g0167a0001c0004t0051g0004others(7): Show | 10 | 244 | 0.0410 | -24 | c.152 others(39): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 3/12 | chr15 | TogoVar | ||||||
| OTUD7A_chr15_31470398_31875673 | 31659037 | GAATGAAT others(17): Show |
G | intron_variant | MODIFIER | HG01109.hp2 NA18522.hp1 NA19030.hp2 |
a0001a0002 | a0001c0002a0002c0005a0002c0014 | a0001c0002t0020a0002c0005t0093a0002c0014t0094 | a0001c0002t0020g0168a0002c0005t0093g0003a0002c0014t0094g0095 | 3 | 244 | 0.0123 | -24 | c.-99 others(41): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 1/12 | chr15 | TogoVar | ||||||
| OTUD7A_chr15_31470398_31875673 | 31659041 | GAATAAAT others(17): Show |
G | intron_variant | MODIFIER | HG00438.hp1 NA18962.hp2 |
a0001a0002 | a0001c0001a0002c0007 | a0001c0001t0002a0002c0007t0003 | a0001c0001t0002g0189a0002c0007t0003g0159 | 2 | 244 | 0.0082 | -24 | c.-99 others(41): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 1/12 | chr15 | TogoVar | ||||||
| OTUD7A_chr15_31470398_31875673 | 31659614 | TTGCCCCT others(17): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG01891.hp2 HG02145.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0084a0001c0001t0097a0001c0002t0020others(6): Show | a0001c0001t0084g0219a0001c0001t0097g0227a0001c0002t0020g0168others(7): Show | 10 | 244 | 0.0410 | -24 | c.-99 others(41): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 1/12 | chr15 | TogoVar | ||||||
| OTUD7A_chr15_31470398_31875673 | 31778743 | CACACACA others(17): Show |
C | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0002 | a0001c0002t0085 | a0001c0002t0085g0212 | 1 | 244 | 0.0041 | -24 | c.-10 others(45): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 1/12 | chr15 | TogoVar | ||||||
| OTX2_chr14_56794905_56815479 | 56807970 | GGCAGCCC others(17): Show |
G | intron_variant | MODIFIER | HG01109.hp2 HG02809.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0055a0001c0002t0002g0084 | 2 | 404 | 0.0050 | -24 | c.-12 others(43): Show |
OTX2 | ENSG00000165588.19 | transcript | ENST00000672264.2 | protein_coding | 2/4 | chr14 | TogoVar | ||||||
| OVCH1_chr12_29434853_29502686 | 29501368 | AGAGTAAC others(17): Show |
A | upstream_gene_variant | MODIFIER | NA18943.hp1 | a0007 | a0007c0007 | a0007c0007t0002 | a0007c0007t0002g0008 | 1 | 400 | 0.0025 | -24 | c.-37 others(35): Show |
OVCH1 | ENSG00000187950.9 | transcript | ENST00000537054.2 | protein_coding | 3683 | chr12 | TogoVar | ||||||
| OVGP1_chr1_111409319_111432735 | 111414873 | CCAGGGCT others(17): Show |
C | disruptive_inframe_deletion | MODERATE | HG02257.hp2 HG03098.hp2 NA18906.hp2 |
a0016 | a0016c0020 | a0016c0020t0001 | a0016c0020t0001g0038a0016c0020t0001g0066 | 3 | 424 | 0.0071 | -24 | c.160 others(33): Show |
p.Val others(13): Show |
OVGP1 | ENSG00000085465.13 | transcript | ENST00000369732.4 | protein_coding | 11/11 | 1641/2196 | 1604/2037 | 535/678 | chr1 | TogoVar | ||
| OVGP1_chr1_111409319_111432735 | 111414879 | CTCACAGA others(17): Show |
C | disruptive_inframe_deletion | MODERATE | HG00140.hp2 HG01099.hp2 HG01243.hp1 others(26): Show |
a0005a0009a0018others(3): Show | a0005c0005a0005c0042a0009c0012others(6): Show | a0005c0005t0001a0005c0042t0001a0009c0012t0001others(6): Show | a0005c0005t0001g0009a0005c0005t0001g0013a0005c0005t0001g0068others(11): Show | 29 | 424 | 0.0684 | -24 | c.159 others(33): Show |
p.Thr others(13): Show |
OVGP1 | ENSG00000085465.13 | transcript | ENST00000369732.4 | protein_coding | 11/11 | 1635/2196 | 1598/2037 | 533/678 | chr1 | TogoVar | ||
| OVGP1_chr1_111409319_111432735 | 111414895 | TCACAGGG others(17): Show |
T | conservative_inframe_deletion | MODERATE | HG02818.hp1 NA19240.hp2 |
a0021 | a0021c0025 | a0021c0025t0001 | a0021c0025t0001g0035 | 2 | 424 | 0.0047 | -24 | c.158 others(33): Show |
p.Gly others(13): Show |
OVGP1 | ENSG00000085465.13 | transcript | ENST00000369732.4 | protein_coding | 11/11 | 1619/2196 | 1582/2037 | 528/678 | chr1 | TogoVar | ||
| OVGP1_chr1_111409319_111432735 | 111427809 | TACACACA others(17): Show |
T | upstream_gene_variant | MODIFIER | HG01891.hp2 HG02258.hp1 HG02622.hp2 others(6): Show |
a0005a0010a0018 | a0005c0042a0010c0011a0018c0023 | a0005c0042t0001a0010c0011t0001a0018c0023t0001 | a0005c0042t0001g0093a0010c0011t0001g0016a0010c0011t0001g0092others(1): Show | 9 | 424 | 0.0212 | -24 | c.-11 others(32): Show |
OVGP1 | ENSG00000085465.13 | transcript | ENST00000369732.4 | protein_coding | 75 | chr1 | TogoVar | ||||||
| OXR1_chr8_106265190_106757694 | 106316713 | CTATCATC others(17): Show |
C | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 172 | 0.0058 | -24 | c.-13 others(45): Show |
OXR1 | ENSG00000164830.19 | transcript | ENST00000517566.7 | protein_coding | 1/16 | chr8 | TogoVar | ||||||
| OXR1_chr8_106265190_106757694 | 106359047 | TTTTCTTT others(17): Show |
T | intron_variant | MODIFIER | HG00741.hp1 HG01069.hp2 HG01071.hp2 others(18): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0033a0001c0001t0001g0046a0001c0001t0001g0054others(18): Show | 21 | 172 | 0.1221 | -24 | c.-13 others(41): Show |
OXR1 | ENSG00000164830.19 | transcript | ENST00000517566.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| OXR1_chr8_106265190_106757694 | 106405141 | CATATATA others(17): Show |
C | intron_variant | MODIFIER | HG01071.hp2 NA18939.hp2 NA18974.hp1 |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0002t0001a0001c0007t0005 | a0001c0001t0001g0066a0001c0002t0001g0065a0001c0007t0005g0156 | 3 | 172 | 0.0174 | -24 | c.23+ others(41): Show |
OXR1 | ENSG00000164830.19 | transcript | ENST00000517566.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| OXR1_chr8_106265190_106757694 | 106627546 | CTTAATGA others(17): Show |
C | intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0142 | 1 | 172 | 0.0058 | -24 | c.221 others(43): Show |
OXR1 | ENSG00000164830.19 | transcript | ENST00000517566.7 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| OXSR1_chr3_38160537_38260484 | 38184903 | CTTTTTTT others(17): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp2 HG00741.hp2 others(22): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0002a0002c0002t0006 | a0001c0001t0003g0174a0002c0002t0002g0001a0002c0002t0002g0200others(21): Show | 25 | 248 | 0.1008 | -24 | c.183 others(41): Show |
OXSR1 | ENSG00000172939.9 | transcript | ENST00000311806.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| OXSR1_chr3_38160537_38260484 | 38259441 | CATATATA others(17): Show |
C | downstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 248 | 0.0040 | -24 | c.*65 others(35): Show |
OXSR1 | ENSG00000172939.9 | transcript | ENST00000311806.8 | protein_coding | 3958 | chr3 | TogoVar | ||||||
| P2RX3_chr11_57333352_57377396 | 57374426 | CAAAAAAA others(17): Show |
C | downstream_gene_variant | MODIFIER | HG00544.hp2 NA18981.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0008a0002c0002t0001g0083 | 2 | 354 | 0.0057 | -24 | c.*44 others(35): Show |
P2RX3 | ENSG00000109991.10 | transcript | ENST00000263314.3 | protein_coding | 2031 | chr11 | TogoVar | ||||||
| P2RX4_chr12_121205129_121239106 | 121219611 | GGATGGAT others(17): Show |
G | intron_variant | MODIFIER | HG01981.hp2 HG02040.hp1 NA18989.hp2 |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0001a0002c0002t0001 | a0001c0003t0001g0278a0002c0002t0001g0303a0002c0002t0001g0304 | 3 | 388 | 0.0077 | -24 | c.283 others(41): Show |
P2RX4 | ENSG00000135124.16 | transcript | ENST00000337233.9 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| P2RX4_chr12_121205129_121239106 | 121219615 | GGATAGAT others(17): Show |
G | intron_variant | MODIFIER | HG02559.hp1 HG02976.hp2 HG03471.hp2 others(1): Show |
a0001 | a0001c0003a0001c0010 | a0001c0003t0001a0001c0010t0001 | a0001c0003t0001g0268a0001c0003t0001g0270a0001c0003t0001g0275others(1): Show | 4 | 388 | 0.0103 | -24 | c.283 others(41): Show |
P2RX4 | ENSG00000135124.16 | transcript | ENST00000337233.9 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| P2RX5_chr17_3668227_3701155 | 3699874 | AAAGGAAG others(17): Show |
A | upstream_gene_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG01257.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0133a0001c0001t0002g0106a0001c0001t0002g0149others(3): Show | 6 | 362 | 0.0166 | -24 | c.-38 others(35): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 3720 | chr17 | TogoVar | ||||||
| P2RY10_chrX_78940391_78968727 | 78965522 | TTTTCTTT others(17): Show |
T | downstream_gene_variant | MODIFIER | HG02015.hp1 HG02895.hp1 HG02897.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0007a0001c0001t0010a0002c0002t0002 | a0001c0001t0007g0032a0001c0001t0010g0092a0002c0002t0002g0003 | 4 | 322 | 0.0124 | -24 | c.*39 others(35): Show |
P2RY10 | ENSG00000078589.13 | transcript | ENST00000171757.3 | protein_coding | 1796 | chrX | TogoVar | ||||||
| P2RY10_chrX_78940391_78968727 | 78965749 | CCTTTCTT others(17): Show |
C | downstream_gene_variant | MODIFIER | HG01257.hp2 HG04199.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 2 | 322 | 0.0062 | -24 | c.*42 others(35): Show |
P2RY10 | ENSG00000078589.13 | transcript | ENST00000171757.3 | protein_coding | 2023 | chrX | TogoVar | ||||||
| P2RY10_chrX_78940391_78968727 | 78965828 | CTTTTCCT others(17): Show |
C | downstream_gene_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0053 | 1 | 322 | 0.0031 | -24 | c.*42 others(35): Show |
P2RY10 | ENSG00000078589.13 | transcript | ENST00000171757.3 | protein_coding | 2102 | chrX | TogoVar | ||||||
| P2RY10_chrX_78940391_78968727 | 78965833 | CCTTTCTT others(17): Show |
C | downstream_gene_variant | MODIFIER | HG03834.hp2 NA18987.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0025 | a0001c0001t0003g0095a0001c0001t0025g0006 | 2 | 322 | 0.0062 | -24 | c.*42 others(35): Show |
P2RY10 | ENSG00000078589.13 | transcript | ENST00000171757.3 | protein_coding | 2107 | chrX | TogoVar | ||||||
| P2RY12_chr3_151331843_151389753 | 151385118 | GTGAACCT others(17): Show |
G | upstream_gene_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0227 | 1 | 396 | 0.0025 | -24 | c.-63 others(33): Show |
P2RY12 | ENSG00000169313.10 | transcript | ENST00000302632.4 | protein_coding | 366 | chr3 | TogoVar | ||||||
| P2RY6_chr11_73267338_73303625 | 73290299 | AAAGAAAA others(17): Show |
A | intron_variant | MODIFIER | HG01106.hp1 HG01891.hp2 HG02723.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0078others(4): Show | 7 | 324 | 0.0216 | -24 | c.-12 others(43): Show |
P2RY6 | ENSG00000171631.16 | transcript | ENST00000540124.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| P2RY6_chr11_73267338_73303625 | 73290302 | GAAAAGAA others(17): Show |
G | intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0053 | 1 | 324 | 0.0031 | -24 | c.-12 others(43): Show |
P2RY6 | ENSG00000171631.16 | transcript | ENST00000540124.6 | protein_coding | 1/2 | chr11 | TogoVar | ||||||
| P2RY6_chr11_73267338_73303625 | 73290303 | AAAAGAAA others(17): Show |
A | intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 324 | 0.0031 | -24 | c.-12 others(43): Show |
P2RY6 | ENSG00000171631.16 | transcript | ENST00000540124.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| P2RY8_chrX_1457581_1542185 | 1458607 | CTATCTAT others(17): Show |
C | downstream_gene_variant | MODIFIER | HG02897.hp2 HG03195.hp1 HG03195.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0006a0001c0003t0003others(1): Show | a0001c0001t0003g0066a0001c0001t0006g0029a0001c0003t0003g0030others(3): Show | 6 | 114 | 0.0526 | -24 | c.*68 others(35): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 3973 | chrX | TogoVar | ||||||
| P2RY8_chrX_1457581_1542185 | 1460564 | CATCTATC others(17): Show |
C | downstream_gene_variant | MODIFIER | HG02723.hp1 HG02897.hp2 HG03195.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0006a0001c0003t0003others(1): Show | a0001c0001t0003g0066a0001c0001t0003g0069a0001c0001t0006g0029others(4): Show | 7 | 114 | 0.0614 | -24 | c.*48 others(35): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 2016 | chrX | TogoVar | ||||||
| P2RY8_chrX_1457581_1542185 | 1524395 | CTCCATCC others(17): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG02273.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0030a0002c0002t0004others(1): Show | a0001c0001t0002g0014a0001c0001t0030g0013a0002c0002t0004g0024others(1): Show | 4 | 114 | 0.0351 | -24 | c.-25 others(43): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | ||||||
| P3H2_chr3_189951728_190125897 | 189966123 | AAAAGAAA others(17): Show |
A | intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0110 | 1 | 304 | 0.0033 | -24 | c.189 others(43): Show |
P3H2 | ENSG00000090530.10 | transcript | ENST00000319332.10 | protein_coding | 13/14 | chr3 | TogoVar | ||||||
| P3H2_chr3_189951728_190125897 | 190095303 | CATATATA others(17): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG02027.hp2 NA18612.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0002 | a0001c0001t0004g0052a0001c0002t0002g0051a0001c0002t0002g0170others(2): Show | 5 | 304 | 0.0165 | -24 | c.480 others(43): Show |
P3H2 | ENSG00000090530.10 | transcript | ENST00000319332.10 | protein_coding | 1/14 | chr3 | TogoVar | ||||||
| P3H2_chr3_189951728_190125897 | 190119851 | CAAAAGAA others(17): Show |
C | intron_variant | MODIFIER | HG02148.hp1 NA18522.hp2 NA18943.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0004a0001c0001t0024a0001c0002t0002others(4): Show | a0001c0001t0004g0188a0001c0001t0024g0189a0001c0002t0002g0186others(4): Show | 7 | 304 | 0.0230 | -24 | c.480 others(39): Show |
P3H2 | ENSG00000090530.10 | transcript | ENST00000319332.10 | protein_coding | 1/14 | chr3 | TogoVar | ||||||
| P3H3_chr12_6823407_6844847 | 6827555 | AGCCTCGC others(17): Show |
A | upstream_gene_variant | MODIFIER | NA18978.hp1 | a0017 | a0017c0033 | a0017c0033t0002 | a0017c0033t0002g0021 | 1 | 452 | 0.0022 | -24 | c.-88 others(33): Show |
P3H3 | ENSG00000110811.20 | transcript | ENST00000290510.10 | protein_coding | 851 | chr12 | TogoVar | ||||||
| P4HA1_chr10_73002217_73101866 | 73037525 | CTATATAT others(17): Show |
C | intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 234 | 0.0043 | -24 | c.114 others(43): Show |
P4HA1 | ENSG00000122884.13 | transcript | ENST00000394890.7 | protein_coding | 9/14 | chr10 | TogoVar | ||||||
| P4HA1_chr10_73002217_73101866 | 73037549 | ATATATAT others(17): Show |
A | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0071 | 1 | 234 | 0.0043 | -24 | c.114 others(43): Show |
P4HA1 | ENSG00000122884.13 | transcript | ENST00000394890.7 | protein_coding | 9/14 | chr10 | TogoVar | ||||||
| PABIR2_chrX_134764566_134802205 | 134788082 | TTATATGT others(17): Show |
T | intron_variant | MODIFIER | HG01168.hp2 HG02559.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138a0001c0001t0001g0140a0001c0001t0001g0141 | 3 | 217 | 0.0138 | -24 | c.436 others(39): Show |
PABIR2 | ENSG00000156504.17 | transcript | ENST00000343004.10 | protein_coding | 6/9 | chrX | TogoVar | ||||||
| PABIR2_chrX_134764566_134802205 | 134788146 | TACGTTAT others(17): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG00735.hp1 HG01109.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0001g0011a0001c0001t0001g0013a0001c0001t0001g0014others(12): Show | 20 | 217 | 0.0922 | -24 | c.435 others(39): Show |
PABIR2 | ENSG00000156504.17 | transcript | ENST00000343004.10 | protein_coding | 6/9 | chrX | TogoVar | ||||||
| PABPC1L2A_chrX_73072276_73084512 | 73080188 | TGCTGCGG others(17): Show |
T | upstream_gene_variant | MODIFIER | HG00642.hp1 HG01106.hp1 HG01257.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0001t0003g0000others(2): Show | 14 | 274 | 0.0511 | -24 | c.-82 others(33): Show |
PABPC1L2A | ENSG00000186288.5 | transcript | ENST00000373519.1 | protein_coding | 677 | chrX | TogoVar | ||||||
| PABPC1L2A_chrX_73072276_73084512 | 73080250 | GGGGCTGC others(17): Show |
G | upstream_gene_variant | MODIFIER | HG02559.hp1 HG03139.hp1 HG03453.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0020others(1): Show | a0001c0001t0001g0000a0001c0001t0007g0000a0001c0001t0020g0000others(1): Show | 8 | 274 | 0.0292 | -24 | c.-88 others(33): Show |
PABPC1L2A | ENSG00000186288.5 | transcript | ENST00000373519.1 | protein_coding | 739 | chrX | TogoVar | ||||||
| PABPC1L2B_chrX_72997939_73011106 | 73002738 | GCCCGCAG others(17): Show |
G | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00738.hp1 HG01975.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016 | a0001c0001t0001g0000a0001c0001t0016g0000 | 14 | 294 | 0.0476 | -24 | c.-90 others(33): Show |
PABPC1L2B | ENSG00000184388.6 | transcript | ENST00000373521.4 | protein_coding | 200 | chrX | TogoVar |