view | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PMS2_chr7_5965925_6014049 | 5968905 | TTGGCTCA others(1): Show |
T | downstream_gene_variant | MODIFIER | HG02027.hp2 HG02280.hp2 HG02523.hp2 others(5): Show |
a0001a0003a0010 | a0001c0003a0003c0004a0003c0020others(1): Show | a0001c0003t0019a0001c0003t0021a0003c0004t0004others(2): Show | a0001c0003t0019g0090a0001c0003t0019g0091a0001c0003t0021g0084others(5): Show | 8 | 408 | 0.0196 | -8 | c.*44 others(19): Show |
PMS2 | ENSG00000122512.17 | transcript | ENST00000265849.12 | protein_coding | 2019 | chr7 | TogoVar | |||||||
PMS2_chr7_5965925_6014049 | 5996606 | TATATATA others(1): Show |
T | intron_variant | MODIFIER | HG01346.hp2 HG02109.hp2 HG02280.hp1 others(3): Show |
a0009a0018 | a0009c0016a0009c0017a0018c0035 | a0009c0016t0010a0009c0017t0001a0009c0017t0003others(1): Show | a0009c0016t0010g0017a0009c0016t0010g0103a0009c0017t0001g0106others(3): Show | 6 | 408 | 0.0147 | -8 | c.803 others(23): Show |
PMS2 | ENSG00000122512.17 | transcript | ENST00000265849.12 | protein_coding | 7/14 | chr7 | TogoVar | |||||||
PMS2_chr7_5965925_6014049 | 6012252 | CAAAAAAA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG02257.hp1 HG02258.hp1 HG02451.hp1 others(9): Show |
a0007a0010a0019 | a0007c0009a0010c0014a0019c0034 | a0007c0009t0009a0007c0009t0026a0007c0009t0037others(2): Show | a0007c0009t0009g0019a0007c0009t0009g0020a0007c0009t0009g0021others(9): Show | 12 | 408 | 0.0294 | -8 | c.-32 others(19): Show |
PMS2 | ENSG00000122512.17 | transcript | ENST00000265849.12 | protein_coding | 3204 | chr7 | TogoVar | |||||||
PNISR_chr6_99393050_99430308 | 99413391 | TATCCATC others(1): Show |
T | intron_variant | MODIFIER | HG01099.hp1 HG02055.hp1 HG02055.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0015others(1): Show | a0001c0001t0001g0009a0001c0001t0001g0021a0001c0001t0001g0022others(11): Show | 19 | 406 | 0.0468 | -8 | c.89- others(21): Show |
PNISR | ENSG00000132424.17 | transcript | ENST00000369239.10 | protein_coding | 3/11 | chr6 | TogoVar | |||||||
PNKD_chr2_218265519_218351793 | 218315116 | CCTTCCTT others(1): Show |
C | intron_variant | MODIFIER | HG00609.hp1 HG00609.hp2 HG00621.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0191a0001c0001t0001g0196a0001c0001t0001g0211others(20): Show | 23 | 280 | 0.0821 | -8 | c.237 others(27): Show |
PNKD | ENSG00000127838.15 | transcript | ENST00000273077.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PNLIP_chr10_116540931_116572855 | 116560276 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG02970.hp2 NA21309.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0141a0001c0004t0001g0044a0001c0004t0001g0103 | 3 | 276 | 0.0109 | -8 | c.106 others(25): Show |
PNLIP | ENSG00000175535.6 | transcript | ENST00000369221.2 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PNMA2_chr8_26499701_26518872 | 26513114 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG02572.hp2 HG02630.hp1 HG02630.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0008a0002c0002t0002 | a0001c0001t0002g0073a0001c0001t0002g0074a0001c0001t0008g0041others(3): Show | 8 | 416 | 0.0192 | -8 | c.-61 others(25): Show |
PNMA2 | ENSG00000240694.9 | transcript | ENST00000522362.7 | protein_coding | 1/2 | chr8 | TogoVar | |||||||
PNMA5_chrX_152983824_152999116 | 152986836 | GACTCACA others(1): Show |
G | downstream_gene_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 286 | 0.0035 | -8 | c.*34 others(19): Show |
PNMA5 | ENSG00000198883.12 | transcript | ENST00000535214.6 | protein_coding | 1987 | chrX | TogoVar | |||||||
PNMA5_chrX_152983824_152999116 | 152990561 | CCCTGATG others(1): Show |
C | frameshift_variant | HIGH | NA19075.hp1 | a0002 | a0002c0010 | a0002c0010t0008 | a0002c0010t0008g0017 | 1 | 286 | 0.0035 | -8 | c.103 others(17): Show |
p.Pro others(5): Show |
PNMA5 | ENSG00000198883.12 | transcript | ENST00000535214.6 | protein_coding | 4/4 | 1450/3188 | 1030/1347 | 344/448 | chrX | TogoVar | |||
PNMA6A_chrX_153067454_153080019 | 153070302 | GAAGTTGC others(1): Show |
G | upstream_gene_variant | MODIFIER | NA19056.hp1 | a0014 | a0014c0018 | a0014c0018t0008 | a0014c0018t0008g0001 | 1 | 86 | 0.0116 | -8 | c.-24 others(19): Show |
PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2151 | chrX | TogoVar | |||||||
PNMA8C_chr19_46419697_46433936 | 46425587 | CAAAAAAA others(1): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00544.hp1 others(104): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009a0001c0001t0013others(10): Show | a0001c0001t0002g0000a0001c0001t0009g0000a0001c0001t0013g0000others(10): Show | 107 | 442 | 0.2421 | -8 | c.*21 others(19): Show |
PNMA8C | ENSG00000277531.3 | transcript | ENST00000617053.3 | protein_coding | 1/1 | 2150 | chr19 | TogoVar | ||||||
PNMA8C_chr19_46419697_46433936 | 46429549 | CTTTTTTT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00642.hp1 HG01433.hp2 HG01884.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0020a0001c0001t0021others(4): Show | a0001c0001t0008g0000a0001c0001t0020g0000a0001c0001t0021g0000others(4): Show | 26 | 442 | 0.0588 | -8 | c.-11 others(19): Show |
PNMA8C | ENSG00000277531.3 | transcript | ENST00000617053.3 | protein_coding | 614 | chr19 | TogoVar | |||||||
PNMA8C_chr19_46419697_46433936 | 46430340 | CTCTTCCT others(1): Show |
C | upstream_gene_variant | MODIFIER | NA19068.hp2 NA20129.hp2 NA21309.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0006a0002c0002t0011 | a0001c0001t0002g0000a0002c0002t0006g0000a0002c0002t0011g0000 | 3 | 442 | 0.0068 | -8 | c.-19 others(19): Show |
PNMA8C | ENSG00000277531.3 | transcript | ENST00000617053.3 | protein_coding | 1405 | chr19 | TogoVar | |||||||
PNMA8C_chr19_46419697_46433936 | 46430341 | TCTTCCTT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG04115.hp2 NA18939.hp1 NA18973.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0012 | a0001c0001t0005g0000a0001c0001t0012g0000 | 4 | 442 | 0.0091 | -8 | c.-19 others(19): Show |
PNMA8C | ENSG00000277531.3 | transcript | ENST00000617053.3 | protein_coding | 1406 | chr19 | TogoVar | |||||||
PNOC_chr8_28312268_28348351 | 28334049 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG02486.hp2 NA20300.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0270a0001c0001t0001g0271a0001c0001t0001g0275 | 3 | 424 | 0.0071 | -8 | c.126 others(25): Show |
PNOC | ENSG00000168081.9 | transcript | ENST00000301908.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PNPLA1_chr6_36265060_36318955 | 36276754 | GTTCCTTC others(1): Show |
G | intron_variant | MODIFIER | HG02647.hp2 HG03130.hp2 NA18522.hp1 others(1): Show |
a0003a0004a0009 | a0003c0004a0004c0007a0004c0008others(1): Show | a0003c0004t0001a0004c0007t0003a0004c0008t0001others(1): Show | a0003c0004t0001g0273a0004c0007t0003g0043a0004c0008t0001g0044others(1): Show | 4 | 386 | 0.0104 | -8 | c.205 others(25): Show |
PNPLA1 | ENSG00000180316.13 | transcript | ENST00000636260.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PNPLA1_chr6_36265060_36318955 | 36282208 | GGAAGGGA others(1): Show |
G | intron_variant | MODIFIER | HG02818.hp1 HG02886.hp2 HG06807.hp2 others(2): Show |
a0003a0004 | a0003c0004a0004c0007a0004c0008 | a0003c0004t0001a0004c0007t0004a0004c0008t0025 | a0003c0004t0001g0058a0004c0007t0004g0056a0004c0007t0004g0057others(2): Show | 5 | 386 | 0.0130 | -8 | c.206 others(25): Show |
PNPLA1 | ENSG00000180316.13 | transcript | ENST00000636260.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PNPLA1_chr6_36265060_36318955 | 36284555 | TCATCCAT others(1): Show |
T | intron_variant | MODIFIER | HG00741.hp1 HG02132.hp2 NA18942.hp2 others(10): Show |
a0002a0004a0019others(2): Show | a0002c0002a0004c0007a0004c0008others(3): Show | a0002c0002t0001a0004c0007t0010a0004c0008t0003others(3): Show | a0002c0002t0001g0175a0002c0002t0001g0196a0002c0002t0001g0200others(10): Show | 13 | 386 | 0.0337 | -8 | c.206 others(25): Show |
PNPLA1 | ENSG00000180316.13 | transcript | ENST00000636260.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PNPLA1_chr6_36265060_36318955 | 36287755 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02280.hp2 HG02559.hp1 others(3): Show |
a0001a0003a0004 | a0001c0001a0003c0004a0004c0007 | a0001c0001t0005a0003c0004t0001a0004c0007t0004 | a0001c0001t0005g0007a0003c0004t0001g0072a0003c0004t0001g0263others(3): Show | 6 | 386 | 0.0155 | -8 | c.206 others(25): Show |
PNPLA1 | ENSG00000180316.13 | transcript | ENST00000636260.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PNPLA2_chr11_813914_830573 | 817840 | CTTTTTTC others(1): Show |
C | upstream_gene_variant | MODIFIER | HG03704.hp2 NA18964.hp1 NA19002.hp1 others(3): Show |
a0001 | a0001c0001a0001c0004a0001c0008 | a0001c0001t0001a0001c0004t0003a0001c0008t0003 | a0001c0001t0001g0028a0001c0004t0003g0003a0001c0004t0003g0008others(1): Show | 6 | 442 | 0.0136 | -8 | c.-12 others(19): Show |
PNPLA2 | ENSG00000177666.17 | transcript | ENST00000336615.9 | protein_coding | 1073 | chr11 | TogoVar | |||||||
PNPLA4_chrX_7893247_7932413 | 7903274 | GTTTATTT others(1): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00558.hp1 others(94): Show |
a0000a0001 | a0000c0005a0001c0001a0001c0003 | a0000c0005t0079a0001c0001t0001a0001c0001t0002others(23): Show | a0000c0005t0079g0195a0001c0001t0001g0005a0001c0001t0001g0011others(65): Show | 97 | 338 | 0.2870 | -8 | c.478 others(25): Show |
PNPLA4 | ENSG00000006757.12 | transcript | ENST00000381042.9 | protein_coding | 5/6 | chrX | TogoVar | |||||||
PNPLA5_chr22_43874678_43897013 | 43888371 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG02970.hp1 HG03098.hp1 others(1): Show |
a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0018 | 4 | 438 | 0.0091 | -8 | c.703 others(23): Show |
PNPLA5 | ENSG00000100341.13 | transcript | ENST00000216177.9 | protein_coding | 4/8 | chr22 | TogoVar | |||||||
PNPLA6_chr19_7530717_7566764 | 7547811 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(176): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(12): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0001others(14): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0010others(147): Show | 179 | 416 | 0.4303 | -8 | c.160 others(27): Show |
PNPLA6 | ENSG00000032444.17 | transcript | ENST00000600737.6 | protein_coding | 13/31 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PNPLA6_chr19_7530717_7566764 | 7556053 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02451.hp1 HG02622.hp1 others(4): Show |
a0001a0004 | a0001c0001a0001c0009a0004c0008 | a0001c0001t0001a0001c0009t0001a0004c0008t0001 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0198others(4): Show | 7 | 416 | 0.0168 | -8 | c.309 others(25): Show |
PNPLA6 | ENSG00000032444.17 | transcript | ENST00000600737.6 | protein_coding | 24/31 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PNPLA8_chr7_108465417_108531135 | 108470386 | AAAAAAAA others(1): Show |
A | downstream_gene_variant | MODIFIER | HG00673.hp1 HG00673.hp2 HG00735.hp1 others(64): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0011a0005c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(8): Show | a0001c0001t0001g0014a0001c0001t0001g0016a0001c0001t0001g0017others(60): Show | 67 | 390 | 0.1718 | -8 | c.*20 others(19): Show |
PNPLA8 | ENSG00000135241.17 | transcript | ENST00000257694.13 | protein_coding | 30 | chr7 | TogoVar | |||||||
PNPLA8_chr7_108465417_108531135 | 108518720 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG01361.hp1 HG01496.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0281a0001c0001t0002g0008a0001c0001t0002g0041others(10): Show | 14 | 390 | 0.0359 | -8 | c.-84 others(25): Show |
PNPLA8 | ENSG00000135241.17 | transcript | ENST00000257694.13 | protein_coding | 2/10 | chr7 | TogoVar | |||||||
PNPLA8_chr7_108465417_108531135 | 108526351 | TGTGCGTG others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00597.hp2 HG01257.hp1 HG01258.hp1 others(12): Show |
a0001a0003a0004 | a0001c0001a0001c0004a0003c0010others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0001g0278a0001c0001t0004g0144a0001c0001t0004g0145others(11): Show | 15 | 390 | 0.0385 | -8 | c.-46 others(17): Show |
PNPLA8 | ENSG00000135241.17 | transcript | ENST00000257694.13 | protein_coding | 217 | chr7 | TogoVar | |||||||
PNPT1_chr2_55629061_55698844 | 55657856 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG01516.hp2 HG02027.hp1 HG02071.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0126a0001c0001t0001g0142a0001c0001t0001g0144others(5): Show | 8 | 390 | 0.0205 | -8 | c.128 others(27): Show |
PNPT1 | ENSG00000138035.15 | transcript | ENST00000447944.7 | protein_coding | 15/27 | chr2 | TogoVar | |||||||
PNPT1_chr2_55629061_55698844 | 55695278 | TAAAAAAA others(1): Show |
T | upstream_gene_variant | MODIFIER | HG01192.hp2 HG03490.hp2 HG03492.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033a0001c0001t0001g0034a0001c0001t0001g0036others(3): Show | 6 | 390 | 0.0154 | -8 | c.-14 others(19): Show |
PNPT1 | ENSG00000138035.15 | transcript | ENST00000447944.7 | protein_coding | 1435 | chr2 | TogoVar | |||||||
PNRC1_chr6_89075751_89090160 | 89086498 | CAAAAAAA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00738.hp1 HG01496.hp1 HG01884.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0018 | a0001c0001t0002g0001a0001c0001t0003g0001a0001c0001t0018g0001 | 11 | 396 | 0.0278 | -8 | c.*23 others(19): Show |
PNRC1 | ENSG00000146278.11 | transcript | ENST00000336032.4 | protein_coding | 1339 | chr6 | TogoVar | |||||||
POC1A_chr3_52070226_52159423 | 52078503 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00621.hp2 HG00673.hp2 others(63): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008 | a0001c0001t0001g0111a0001c0001t0002g0001a0001c0001t0002g0002others(40): Show | 66 | 286 | 0.2308 | -8 | c.112 others(27): Show |
POC1A | ENSG00000164087.8 | transcript | ENST00000296484.7 | protein_coding | 10/10 | chr3 | TogoVar | |||||||
POC1B_chr12_89414718_89531047 | 89476697 | AATAGATA others(1): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00597.hp2 HG00741.hp1 others(20): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0001a0001c0001t0010a0002c0006t0001 | a0001c0001t0001g0112a0001c0001t0001g0230a0001c0001t0001g0232others(20): Show | 23 | 370 | 0.0622 | -8 | c.453 others(25): Show |
POC1B | ENSG00000139323.14 | transcript | ENST00000313546.8 | protein_coding | 4/11 | chr12 | TogoVar | |||||||
POC1B_chr12_89414718_89531047 | 89476755 | TAGATAGA others(1): Show |
T | intron_variant | MODIFIER | HG00741.hp2 HG01257.hp1 HG01258.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0014a0001c0001t0001g0015others(16): Show | 20 | 370 | 0.0541 | -8 | c.453 others(25): Show |
POC1B | ENSG00000139323.14 | transcript | ENST00000313546.8 | protein_coding | 4/11 | chr12 | TogoVar | |||||||
POC1B_chr12_89414718_89531047 | 89476759 | TAGACAGA others(1): Show |
T | intron_variant | MODIFIER | HG02486.hp1 HG02723.hp1 HG03130.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012a0001c0001t0015 | a0001c0001t0001g0002a0001c0001t0012g0107a0001c0001t0015g0361 | 4 | 370 | 0.0108 | -8 | c.453 others(25): Show |
POC1B | ENSG00000139323.14 | transcript | ENST00000313546.8 | protein_coding | 4/11 | chr12 | TogoVar | |||||||
POC1B_chr12_89414718_89531047 | 89478077 | ACATTCAT others(1): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(125): Show |
a0001a0003 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(5): Show | a0001c0001t0001g0003a0001c0001t0001g0019a0001c0001t0001g0020others(124): Show | 128 | 370 | 0.3460 | -8 | c.453 others(25): Show |
POC1B | ENSG00000139323.14 | transcript | ENST00000313546.8 | protein_coding | 4/11 | chr12 | TogoVar | |||||||
PODXL2_chr3_127624185_127677802 | 127668101 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00597.hp1 HG00733.hp2 others(34): Show |
a0001 | a0001c0001a0001c0003a0001c0011 | a0001c0001t0001a0001c0003t0002a0001c0011t0001 | a0001c0001t0001g0012a0001c0001t0001g0016a0001c0001t0001g0025others(22): Show | 37 | 402 | 0.0920 | -8 | c.120 others(25): Show |
PODXL2 | ENSG00000114631.11 | transcript | ENST00000342480.7 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PODXL_chr7_131495271_131561628 | 131499777 | TTACATAT others(1): Show |
T | downstream_gene_variant | MODIFIER | HG01496.hp1 HG02717.hp1 HG02970.hp2 others(2): Show |
a0002a0005a0009 | a0002c0012a0002c0037a0005c0005others(1): Show | a0002c0012t0014a0002c0037t0008a0005c0005t0003others(2): Show | a0002c0012t0014g0315a0002c0037t0008g0011a0005c0005t0003g0380others(2): Show | 5 | 440 | 0.0114 | -8 | c.*45 others(19): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 493 | chr7 | TogoVar | |||||||
PODXL_chr7_131495271_131561628 | 131499780 | CATATATA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG01074.hp1 HG02083.hp2 HG02486.hp1 others(8): Show |
a0001a0002a0005others(5): Show | a0001c0001a0002c0050a0005c0006others(5): Show | a0001c0001t0001a0002c0050t0007a0005c0006t0001others(5): Show | a0001c0001t0001g0101a0002c0050t0007g0309a0005c0006t0001g0424others(8): Show | 11 | 440 | 0.0250 | -8 | c.*45 others(19): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 490 | chr7 | TogoVar | |||||||
PODXL_chr7_131495271_131561628 | 131499844 | CACACACA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00438.hp2 others(53): Show |
a0001a0002a0004others(3): Show | a0001c0020a0002c0003a0002c0015others(5): Show | a0001c0020t0002a0002c0003t0002a0002c0003t0005others(10): Show | a0001c0020t0002g0065a0002c0003t0002g0189a0002c0003t0002g0191others(52): Show | 56 | 440 | 0.1273 | -8 | c.*44 others(19): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 426 | chr7 | TogoVar | |||||||
PODXL_chr7_131495271_131561628 | 131524377 | CACAGAGA others(1): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG01099.hp1 others(34): Show |
a0001a0002a0003others(8): Show | a0001c0001a0002c0012a0003c0002others(12): Show | a0001c0001t0003a0002c0012t0008a0003c0002t0001others(14): Show | a0001c0001t0003g0137a0001c0001t0003g0138a0002c0012t0008g0021others(33): Show | 37 | 440 | 0.0841 | -8 | c.101 others(27): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
PODXL_chr7_131495271_131561628 | 131524379 | CAGAGAGA others(1): Show |
C | intron_variant | MODIFIER | HG02559.hp1 HG03139.hp1 HG04115.hp1 |
a0002a0004a0008 | a0002c0012a0004c0004a0008c0009 | a0002c0012t0027a0004c0004t0003a0008c0009t0004 | a0002c0012t0027g0023a0004c0004t0003g0329a0008c0009t0004g0180 | 3 | 440 | 0.0068 | -8 | c.101 others(27): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
PODXL_chr7_131495271_131561628 | 131525426 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(45): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0003a0004c0004others(7): Show | a0001c0001t0001a0001c0001t0003a0002c0003t0002others(12): Show | a0001c0001t0001g0067a0001c0001t0003g0163a0002c0003t0002g0192others(45): Show | 48 | 440 | 0.1091 | -8 | c.101 others(27): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
PODXL_chr7_131495271_131561628 | 131544656 | TACGCACG others(1): Show |
T | intron_variant | MODIFIER | HG01496.hp1 HG02258.hp2 HG02572.hp1 others(13): Show |
a0002a0005a0006others(5): Show | a0002c0003a0002c0012a0005c0006others(9): Show | a0002c0003t0001a0002c0012t0010a0002c0012t0042others(10): Show | a0002c0003t0001g0186a0002c0003t0001g0286a0002c0003t0001g0287others(13): Show | 16 | 440 | 0.0364 | -8 | c.100 others(27): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
POF1B_chrX_85272396_85384665 | 85328168 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG00673.hp1 HG01255.hp1 others(63): Show |
a0001a0003a0008others(1): Show | a0001c0001a0001c0002a0003c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(6): Show | a0001c0001t0001g0002a0001c0001t0001g0071a0001c0001t0001g0072others(58): Show | 66 | 227 | 0.2908 | -8 | c.854 others(25): Show |
POF1B | ENSG00000124429.18 | transcript | ENST00000262753.9 | protein_coding | 7/16 | chrX | TogoVar | |||||||
POF1B_chrX_85272396_85384665 | 85360527 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | NA18953.hp1 NA19011.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0111a0001c0001t0002g0112 | 2 | 227 | 0.0088 | -8 | c.358 others(23): Show |
POF1B | ENSG00000124429.18 | transcript | ENST00000262753.9 | protein_coding | 3/16 | chrX | TogoVar | |||||||
POF1B_chrX_85272396_85384665 | 85361955 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG02071.hp1 | a0007 | a0007c0012 | a0007c0012t0001 | a0007c0012t0001g0017 | 1 | 227 | 0.0044 | -8 | c.358 others(25): Show |
POF1B | ENSG00000124429.18 | transcript | ENST00000262753.9 | protein_coding | 3/16 | chrX | TogoVar | |||||||
POGLUT1_chr3_119463963_119499708 | 119468586 | TACACACA others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00741.hp2 HG01099.hp2 others(51): Show |
a0001a0007 | a0001c0001a0007c0006 | a0001c0001t0004a0001c0001t0012a0001c0001t0020others(7): Show | a0001c0001t0004g0006a0001c0001t0004g0010a0001c0001t0004g0033others(26): Show | 54 | 422 | 0.1280 | -8 | c.-43 others(17): Show |
POGLUT1 | ENSG00000163389.12 | transcript | ENST00000295588.9 | protein_coding | 376 | chr3 | TogoVar | |||||||
POGLUT1_chr3_119463963_119499708 | 119475993 | CAAACACA others(1): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00544.hp1 others(40): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0005a0001c0001t0006a0001c0001t0007others(10): Show | a0001c0001t0005g0003a0001c0001t0005g0018a0001c0001t0005g0045others(21): Show | 43 | 422 | 0.1019 | -8 | c.321 others(25): Show |
POGLUT1 | ENSG00000163389.12 | transcript | ENST00000295588.9 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
POGLUT2_chr13_102779281_102803976 | 102785451 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG01081.hp1 HG01123.hp2 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0010 | a0001c0001t0001g0160a0001c0001t0001g0196a0001c0001t0001g0201others(13): Show | 17 | 436 | 0.0390 | -8 | c.149 others(25): Show |
POGLUT2 | ENSG00000134901.14 | transcript | ENST00000376004.5 | protein_coding | 9/9 | chr13 | TogoVar | |||||||
POGLUT3_chr11_108467116_108503384 | 108472445 | CAAACCAG others(1): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02132.hp1 HG02451.hp1 HG02723.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0020 | a0001c0001t0007g0013a0001c0001t0007g0045a0001c0001t0007g0067others(5): Show | 11 | 344 | 0.0320 | -8 | c.*23 others(19): Show |
POGLUT3 | ENSG00000178202.14 | transcript | ENST00000323468.10 | protein_coding | 8/8 | 2374 | chr11 | TogoVar |