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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PDLIM5_chr4_94446942_94673223 | 94621070 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00735.hp2 HG00738.hp1 others(37): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0002a0001c0002t0002a0001c0002t0003others(8): Show | a0001c0001t0002g0008a0001c0001t0002g0009a0001c0001t0002g0011others(37): Show | 40 | 218 | 0.1835 | -10 | c.110 others(29): Show |
PDLIM5 | ENSG00000163110.15 | transcript | ENST00000317968.9 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PDLIM5_chr4_94446942_94673223 | 94659479 | AGTATATA others(3): Show |
A | intron_variant | MODIFIER | HG00673.hp2 HG02129.hp2 HG02257.hp1 others(5): Show |
a0001 | a0001c0002a0001c0006 | a0001c0002t0018a0001c0006t0006a0001c0006t0024 | a0001c0002t0018g0131a0001c0002t0018g0159a0001c0006t0006g0041others(5): Show | 8 | 218 | 0.0367 | -10 | c.158 others(29): Show |
PDLIM5 | ENSG00000163110.15 | transcript | ENST00000317968.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PDLIM5_chr4_94446942_94673223 | 94659482 | ATATATGT others(3): Show |
A | intron_variant | MODIFIER | HG02280.hp2 HG03195.hp2 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0085a0001c0001t0002g0086a0001c0001t0002g0087 | 3 | 218 | 0.0138 | -10 | c.158 others(29): Show |
PDLIM5 | ENSG00000163110.15 | transcript | ENST00000317968.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PDLIM5_chr4_94446942_94673223 | 94660910 | TAAAAATA others(3): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(74): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0009others(20): Show | a0001c0001t0004g0031a0001c0001t0004g0039a0001c0001t0004g0046others(74): Show | 77 | 218 | 0.3532 | -10 | c.158 others(29): Show |
PDLIM5 | ENSG00000163110.15 | transcript | ENST00000317968.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PDLIM5_chr4_94446942_94673223 | 94669039 | CAGTGTTT others(3): Show |
C | downstream_gene_variant | MODIFIER | HG00673.hp2 HG02129.hp2 NA18959.hp1 others(3): Show |
a0001 | a0001c0006 | a0001c0006t0006a0001c0006t0024 | a0001c0006t0006g0041a0001c0006t0006g0042a0001c0006t0006g0043others(3): Show | 6 | 218 | 0.0275 | -10 | c.*49 others(21): Show |
PDLIM5 | ENSG00000163110.15 | transcript | ENST00000317968.9 | protein_coding | 817 | chr4 | TogoVar | ||||||
PDLIM7_chr5_177478394_177502604 | 177486931 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02976.hp2 HG06807.hp1 |
a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0300a0003c0006t0001g0301 | 2 | 440 | 0.0046 | -10 | c.105 others(29): Show |
PDLIM7 | ENSG00000196923.14 | transcript | ENST00000355841.7 | protein_coding | 10/12 | chr5 | TogoVar | ||||||
PDLIM7_chr5_177478394_177502604 | 177497008 | GGGGGGGG others(3): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00438.hp2 others(50): Show |
a0001a0002a0007others(1): Show | a0001c0001a0002c0003a0007c0020others(1): Show | a0001c0001t0001a0002c0003t0001a0007c0020t0001others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0011a0001c0001t0001g0012others(31): Show | 53 | 440 | 0.1205 | -10 | c.-11 others(25): Show |
PDLIM7 | ENSG00000196923.14 | transcript | ENST00000355841.7 | protein_coding | 1/12 | chr5 | TogoVar | ||||||
PDPK1_chr16_2533021_2608188 | 2551669 | TTTTTTTT others(3): Show |
T | intron_variant | MODIFIER | HG02717.hp2 HG02922.hp2 HG02970.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0018a0001c0003t0007a0001c0003t0038others(1): Show | a0001c0001t0018g0179a0001c0003t0007g0004a0001c0003t0007g0178others(2): Show | 6 | 184 | 0.0326 | -10 | c.25- others(25): Show |
PDPK1 | ENSG00000140992.19 | transcript | ENST00000342085.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PDPK1_chr16_2533021_2608188 | 2576986 | CTTGGGCT others(3): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02145.hp2 HG02280.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0035 | a0001c0001t0003g0003a0001c0001t0003g0170a0001c0001t0003g0171others(6): Show | 10 | 184 | 0.0544 | -10 | c.710 others(25): Show |
PDPK1 | ENSG00000140992.19 | transcript | ENST00000342085.9 | protein_coding | 6/13 | chr16 | TogoVar | ||||||
PDPN_chr1_13578832_13622957 | 13599373 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp2 others(104): Show |
a0001a0002a0004 | a0001c0001a0002c0003a0004c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0008a0001c0001t0001g0010a0001c0001t0001g0023others(98): Show | 107 | 446 | 0.2399 | -10 | c.68- others(25): Show |
PDPN | ENSG00000162493.17 | transcript | ENST00000621990.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PDPR_chr16_70109332_70167537 | 70148586 | ACTTCCCT others(3): Show |
A | intron_variant | MODIFIER | HG01346.hp1 HG02145.hp2 HG02723.hp2 others(2): Show |
a0002a0008a0012 | a0002c0006a0008c0009a0012c0012 | a0002c0006t0018a0002c0006t0065a0008c0009t0064others(1): Show | a0002c0006t0018g0007a0002c0006t0018g0101a0002c0006t0065g0007others(2): Show | 5 | 289 | 0.0173 | -10 | c.205 others(25): Show |
PDPR | ENSG00000090857.14 | transcript | ENST00000288050.9 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PDS5A_chr4_39817863_39982911 | 39817880 | CTATATAT others(3): Show |
C | downstream_gene_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0014a0001c0001t0015a0001c0002t0002others(1): Show | a0001c0001t0014g0039a0001c0001t0015g0091a0001c0002t0002g0223others(2): Show | 5 | 356 | 0.0140 | -10 | c.*75 others(21): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 4982 | chr4 | TogoVar | ||||||
PDS5A_chr4_39817863_39982911 | 39820397 | AGCAAGGA others(3): Show |
A | downstream_gene_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 356 | 0.0028 | -10 | c.*50 others(21): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 2465 | chr4 | TogoVar | ||||||
PDS5A_chr4_39817863_39982911 | 39829950 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02922.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0014 | a0001c0001t0007g0110a0001c0001t0014g0039 | 2 | 356 | 0.0056 | -10 | c.401 others(29): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 32/32 | chr4 | TogoVar | ||||||
PDS5A_chr4_39817863_39982911 | 39831875 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG01255.hp1 HG02622.hp1 HG02976.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0228a0001c0001t0002g0229a0001c0001t0002g0230others(1): Show | 4 | 356 | 0.0112 | -10 | c.401 others(29): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 32/32 | chr4 | TogoVar | ||||||
PDS5A_chr4_39817863_39982911 | 39842909 | TTATATAT others(3): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00642.hp2 HG00733.hp2 others(38): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0002a0001c0001t0006a0001c0001t0011others(2): Show | a0001c0001t0002g0174a0001c0001t0002g0175a0001c0001t0002g0176others(38): Show | 41 | 356 | 0.1152 | -10 | c.354 others(27): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 30/32 | chr4 | TogoVar | ||||||
PDS5A_chr4_39817863_39982911 | 39867733 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0144 | 1 | 356 | 0.0028 | -10 | c.250 others(27): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 22/32 | chr4 | TogoVar | ||||||
PDS5A_chr4_39817863_39982911 | 39870587 | CAAAATAA others(3): Show |
C | intron_variant | MODIFIER | HG02559.hp2 HG03471.hp1 HG03471.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0007a0001c0002t0003 | a0001c0001t0001g0074a0001c0001t0007g0112a0001c0002t0003g0115 | 3 | 356 | 0.0084 | -10 | c.243 others(29): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 21/32 | chr4 | TogoVar | ||||||
PDS5A_chr4_39817863_39982911 | 39895199 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0217 | 1 | 356 | 0.0028 | -10 | c.177 others(29): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 16/32 | chr4 | TogoVar | ||||||
PDS5A_chr4_39817863_39982911 | 39899851 | TAAAAAAA others(3): Show |
T | intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0152 | 1 | 356 | 0.0028 | -10 | c.158 others(27): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 14/32 | chr4 | TogoVar | ||||||
PDS5A_chr4_39817863_39982911 | 39906917 | TAAAAAAA others(3): Show |
T | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0172 | 1 | 356 | 0.0028 | -10 | c.123 others(29): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 11/32 | chr4 | TogoVar | ||||||
PDS5A_chr4_39817863_39982911 | 39909040 | AAAAATAA others(3): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00609.hp1 others(73): Show |
a0001a0002 | a0001c0001a0001c0013a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(73): Show | 76 | 356 | 0.2135 | -10 | c.108 others(27): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 10/32 | chr4 | TogoVar | ||||||
PDS5A_chr4_39817863_39982911 | 39921583 | TAAAAAAA others(3): Show |
T | intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 356 | 0.0028 | -10 | c.654 others(27): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 6/32 | chr4 | TogoVar | ||||||
PDS5A_chr4_39817863_39982911 | 39923638 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0282 | 1 | 356 | 0.0028 | -10 | c.528 others(25): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 5/32 | chr4 | TogoVar | ||||||
PDS5A_chr4_39817863_39982911 | 39929519 | CTATATAT others(3): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp1 HG02155.hp2 others(36): Show |
a0001 | a0001c0002a0001c0007a0001c0008 | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(2): Show | a0001c0002t0001g0043a0001c0002t0001g0082a0001c0002t0001g0083others(36): Show | 39 | 356 | 0.1096 | -10 | c.139 others(27): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 2/32 | chr4 | TogoVar | ||||||
PDS5A_chr4_39817863_39982911 | 39930215 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0322 | 1 | 356 | 0.0028 | -10 | c.139 others(27): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 2/32 | chr4 | TogoVar | ||||||
PDS5A_chr4_39817863_39982911 | 39934615 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(109): Show |
a0001 | a0001c0002a0001c0009a0001c0014 | a0001c0002t0002a0001c0002t0003a0001c0002t0005others(13): Show | a0001c0002t0002g0214a0001c0002t0002g0256a0001c0002t0002g0296others(109): Show | 112 | 356 | 0.3146 | -10 | c.139 others(27): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 2/32 | chr4 | TogoVar | ||||||
PDS5A_chr4_39817863_39982911 | 39943123 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00544.hp2 others(90): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(14): Show | a0001c0001t0001g0009a0001c0001t0001g0028a0001c0001t0001g0042others(90): Show | 93 | 356 | 0.2612 | -10 | c.139 others(29): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 2/32 | chr4 | TogoVar | ||||||
PDS5A_chr4_39817863_39982911 | 39973033 | ATTTTGCA others(3): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(50): Show |
a0001 | a0001c0002a0001c0009a0001c0014 | a0001c0002t0002a0001c0002t0003a0001c0002t0010others(3): Show | a0001c0002t0002g0214a0001c0002t0003g0116a0001c0002t0003g0117others(50): Show | 53 | 356 | 0.1489 | -10 | c.138 others(27): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 2/32 | chr4 | TogoVar | ||||||
PDS5B_chr13_32581452_32783019 | 32635170 | GTTTTTTT others(3): Show |
G | intron_variant | MODIFIER | HG03540.hp1 HG03831.hp2 |
a0001 | a0001c0001 | a0001c0001t0051a0001c0001t0052 | a0001c0001t0051g0199a0001c0001t0052g0333 | 2 | 334 | 0.0060 | -10 | c.-19 others(29): Show |
PDS5B | ENSG00000083642.19 | transcript | ENST00000315596.15 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PDS5B_chr13_32581452_32783019 | 32646369 | GTTTTTTT others(3): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG02622.hp2 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0024a0001c0001t0051 | a0001c0001t0024g0197a0001c0001t0024g0198a0001c0001t0051g0199 | 3 | 334 | 0.0090 | -10 | c.-19 others(27): Show |
PDS5B | ENSG00000083642.19 | transcript | ENST00000315596.15 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PDS5B_chr13_32581452_32783019 | 32676932 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | NA18992.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 334 | 0.0030 | -10 | c.962 others(25): Show |
PDS5B | ENSG00000083642.19 | transcript | ENST00000315596.15 | protein_coding | 9/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PDS5B_chr13_32581452_32783019 | 32679884 | AGTGTGTG others(3): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG02622.hp2 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0024a0001c0001t0051 | a0001c0001t0024g0197a0001c0001t0024g0198a0001c0001t0051g0199 | 3 | 334 | 0.0090 | -10 | c.105 others(27): Show |
PDS5B | ENSG00000083642.19 | transcript | ENST00000315596.15 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PDS5B_chr13_32581452_32783019 | 32723190 | CACACATT others(3): Show |
C | intron_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0241 | 1 | 334 | 0.0030 | -10 | c.212 others(29): Show |
PDS5B | ENSG00000083642.19 | transcript | ENST00000315596.15 | protein_coding | 19/34 | chr13 | TogoVar | ||||||
PDS5B_chr13_32581452_32783019 | 32750847 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | HG02280.hp2 HG02615.hp1 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0056a0001c0001t0004g0057a0001c0001t0004g0107 | 3 | 334 | 0.0090 | -10 | c.273 others(29): Show |
PDS5B | ENSG00000083642.19 | transcript | ENST00000315596.15 | protein_coding | 24/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PDS5B_chr13_32581452_32783019 | 32768797 | AAAAAAAA others(3): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00544.hp2 others(97): Show |
a0001a0005a0006others(1): Show | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0009a0001c0001t0012a0001c0001t0022others(20): Show | a0001c0001t0009g0176a0001c0001t0012g0286a0001c0001t0012g0287others(96): Show | 100 | 334 | 0.2994 | -10 | c.362 others(29): Show |
PDS5B | ENSG00000083642.19 | transcript | ENST00000315596.15 | protein_coding | 31/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PDSS1_chr10_26692701_26751798 | 26702104 | CAATACCT others(3): Show |
C | intron_variant | MODIFIER | NA19075.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 416 | 0.0024 | -10 | c.130 others(23): Show |
PDSS1 | ENSG00000148459.16 | transcript | ENST00000376215.10 | protein_coding | 1/11 | chr10 | TogoVar | ||||||
PDSS2_chr6_107147562_107464564 | 107176419 | CACACACA others(3): Show |
C | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0228 | 1 | 260 | 0.0039 | -10 | c.104 others(31): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 7/7 | chr6 | TogoVar | ||||||
PDSS2_chr6_107147562_107464564 | 107176429 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02258.hp2 HG02280.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0149a0001c0001t0001g0155a0001c0001t0001g0163others(6): Show | 9 | 260 | 0.0346 | -10 | c.104 others(31): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 7/7 | chr6 | TogoVar | ||||||
PDSS2_chr6_107147562_107464564 | 107245418 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0228 | 1 | 260 | 0.0039 | -10 | c.702 others(25): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 4/7 | chr6 | TogoVar | ||||||
PDSS2_chr6_107147562_107464564 | 107274667 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0104 | 1 | 260 | 0.0039 | -10 | c.432 others(25): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
PDSS2_chr6_107147562_107464564 | 107319017 | CACACACA others(3): Show |
C | intron_variant | MODIFIER | HG01071.hp1 HG01168.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0203a0001c0001t0006g0204 | 2 | 260 | 0.0077 | -10 | c.431 others(29): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
PDSS2_chr6_107147562_107464564 | 107336825 | GGTGTGTG others(3): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG01106.hp1 HG01361.hp1 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0015a0001c0001t0001g0092a0001c0001t0001g0100others(36): Show | 39 | 260 | 0.1500 | -10 | c.297 others(27): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
PDSS2_chr6_107147562_107464564 | 107337039 | CCACACAC others(3): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00438.hp1 others(83): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0027others(83): Show | 86 | 260 | 0.3308 | -10 | c.297 others(27): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
PDSS2_chr6_107147562_107464564 | 107417778 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG02647.hp1 NA18943.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(1): Show | a0001c0001t0001g0061a0002c0002t0001g0006a0002c0002t0001g0007others(6): Show | 9 | 260 | 0.0346 | -10 | c.296 others(29): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
PDSS2_chr6_107147562_107464564 | 107435281 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG01071.hp2 others(55): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0017a0001c0001t0001g0018a0001c0001t0001g0019others(55): Show | 58 | 260 | 0.2231 | -10 | c.296 others(29): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
PDSS2_chr6_107147562_107464564 | 107437525 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00558.hp2 others(125): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0017others(125): Show | 128 | 260 | 0.4923 | -10 | c.296 others(29): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
PDSS2_chr6_107147562_107464564 | 107455754 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00438.hp2 NA18943.hp2 NA18957.hp2 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002a0002c0002t0004 | a0002c0002t0001g0006a0002c0002t0001g0007a0002c0002t0001g0008others(5): Show | 8 | 260 | 0.0308 | -10 | c.296 others(27): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
PDX1_chr13_27915000_27931313 | 27919693 | AATAGAAA others(3): Show |
A | upstream_gene_variant | MODIFIER | HG01361.hp1 HG02735.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 434 | 0.0046 | -10 | c.-44 others(19): Show |
PDX1 | ENSG00000139515.6 | transcript | ENST00000381033.5 | protein_coding | 306 | chr13 | TogoVar | ||||||
PDXDC1_chr16_14970026_15043332 | 14972327 | TTGTGTGT others(3): Show |
T | upstream_gene_variant | MODIFIER | HG02165.hp1 NA19004.hp2 NA19084.hp1 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0002a0002c0004t0006 | a0001c0001t0002g0220a0002c0004t0006g0006a0002c0004t0006g0081 | 3 | 279 | 0.0108 | -10 | c.-28 others(21): Show |
PDXDC1 | ENSG00000179889.20 | transcript | ENST00000396410.9 | protein_coding | 2698 | chr16 | TogoVar |