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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PRODH2_chr19_35794988_35817845 | 35795451 | G | GTAATCCC others(25): Show |
downstream_gene_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 426 | 0.0023 | 32 | c.*45 others(43): Show |
PRODH2 | ENSG00000250799.11 | transcript | ENST00000653904.2 | protein_coding | 4536 | chr19 | TogoVar | |||||||
PRODH2_chr19_35794988_35817845 | 35811457 | A | AAGGGAGG others(25): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02896.hp2 HG02897.hp2 |
a0002 | a0002c0008 | a0002c0008t0002 | a0002c0008t0002g0061 a0002c0008t0002g0062 a0002c0008t0002g0063 |
3 | 232 | 0.0129 | 32 | c.597 others(47): Show |
PRODH2 | ENSG00000250799.11 | transcript | ENST00000653904.2 | protein_coding | 4/9 | chr19 | TogoVar | |||||||
PROM1_chr4_15963228_16089023 | 16004906 | C | CCTCCCCC others(25): Show |
intron_variant | MODIFIER | HG03130.hp1 HG03195.hp1 |
a0001 | a0001c0001a0001c0018 | a0001c0001t0004a0001c0018t0001 | a0001c0001t0004g0031 a0001c0018t0001g0215 |
2 | 372 | 0.0054 | 32 | c.145 others(51): Show |
PROM1 | ENSG00000007062.12 | transcript | ENST00000447510.7 | protein_coding | 13/27 | chr4 | TogoVar | |||||||
PROP1_chr5_177987235_178001242 | 177988881 | A | ATATATAT others(25): Show |
downstream_gene_variant | MODIFIER | HG02273.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0003 | 1 | 431 | 0.0023 | 32 | c.*38 others(43): Show |
PROP1 | ENSG00000175325.2 | transcript | ENST00000308304.2 | protein_coding | 3353 | chr5 | TogoVar | |||||||
PROP1_chr5_177987235_178001242 | 177988883 | A | ATATATAT others(25): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00673.hp2 HG00738.hp2 others(65): Show |
a0001a0002a0004 | a0001c0002a0002c0003a0004c0010 | a0001c0002t0002a0002c0003t0003a0002c0003t0007others(2): Show | a0001c0002t0002g0010 a0001c0002t0002g0037 a0001c0002t0002g0038 others(7): Show |
68 | 430 | 0.1581 | 32 | c.*38 others(43): Show |
PROP1 | ENSG00000175325.2 | transcript | ENST00000308304.2 | protein_coding | 3351 | chr5 | TogoVar | |||||||
PROSER2_chr10_11818356_11877277 | 11842931 | C | CTTTTTTT others(25): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 6 | 0.1667 | 32 | c.-81 others(49): Show |
PROSER2 | ENSG00000148426.14 | transcript | ENST00000277570.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113154293 | A | AGGGCGCG others(25): Show |
upstream_gene_variant | MODIFIER | HG01261.hp2 HG01943.hp1 HG02723.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0011 | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(1): Show | a0001c0001t0001g0020 a0001c0001t0001g0083 a0001c0001t0001g0099 others(16): Show |
21 | 142 | 0.1479 | 32 | c.-43 others(43): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 4354 | chr13 | TogoVar | |||||||
PROZ_chr13_113153648_113177386 | 113154300 | G | GGGGGAGG others(25): Show |
upstream_gene_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0195 | 1 | 376 | 0.0027 | 32 | c.-43 others(43): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 4347 | chr13 | TogoVar | |||||||
PRPF31_chr19_54110754_54136713 | 54133923 | C | CCCCTCCC others(25): Show |
downstream_gene_variant | MODIFIER | HG00609.hp2 HG02258.hp2 HG02273.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0015 others(4): Show |
12 | 215 | 0.0558 | 32 | c.*24 others(43): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2211 | chr19 | TogoVar | |||||||
PRPF31_chr19_54110754_54136713 | 54134077 | T | TCCACCTT others(25): Show |
downstream_gene_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0090 | 1 | 223 | 0.0045 | 32 | c.*26 others(43): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2365 | chr19 | TogoVar | |||||||
PRPF38B_chr1_108687310_108707928 | 108689608 | T | TAACATTA others(25): Show |
upstream_gene_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 5 | 0.2000 | 32 | c.-29 others(43): Show |
PRPF38B | ENSG00000134186.12 | transcript | ENST00000370025.9 | protein_coding | 2701 | chr1 | TogoVar | |||||||
PRPH2_chr6_42691598_42727597 | 42705599 | A | AAAAAATA others(25): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0250 | 1 | 217 | 0.0046 | 32 | c.582 others(47): Show |
PRPH2 | ENSG00000112619.8 | transcript | ENST00000230381.7 | protein_coding | 1/2 | chr6 | TogoVar | |||||||
PRPH2_chr6_42691598_42727597 | 42705599 | A | AATATATA others(25): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 217 | 0.0046 | 32 | c.582 others(48): Show |
PRPH2 | ENSG00000112619.8 | transcript | ENST00000230381.7 | protein_coding | 1/2 | chr6 | TogoVar | |||||||
PRPS1L1_chr7_18021770_18032846 | 18030651 | T | TATATATA others(25): Show |
upstream_gene_variant | MODIFIER | HG00621.hp2 HG03098.hp1 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0000 a0002c0004t0001g0000 |
2 | 157 | 0.0127 | 32 | c.-28 others(43): Show |
PRPS1L1 | ENSG00000229937.9 | transcript | ENST00000506618.5 | protein_coding | 2806 | WARNING_TRANSCRIPT_NO_START_CODON | chr7 | TogoVar | ||||||
PRPS1L1_chr7_18021770_18032846 | 18030651 | T | TATATATA others(25): Show |
upstream_gene_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 156 | 0.0064 | 32 | c.-28 others(43): Show |
PRPS1L1 | ENSG00000229937.9 | transcript | ENST00000506618.5 | protein_coding | 2806 | WARNING_TRANSCRIPT_NO_START_CODON | chr7 | TogoVar | ||||||
PRPS1_chrX_107623510_107656026 | 107623594 | T | TCTTTCTT others(25): Show |
upstream_gene_variant | MODIFIER | HG02886.hp2 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 a0001c0001t0001g0049 |
2 | 207 | 0.0097 | 32 | c.-50 others(43): Show |
PRPS1 | ENSG00000147224.13 | transcript | ENST00000372435.10 | protein_coding | 4915 | chrX | TogoVar | |||||||
PRR16_chr5_120459300_120692314 | 120646048 | T | TTATATAT others(25): Show |
intron_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0078 | 1 | 7 | 0.1429 | 32 | c.160 others(51): Show |
PRR16 | ENSG00000184838.15 | transcript | ENST00000407149.7 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PRR19_chr19_42297132_42315814 | 42311259 | T | TTTCCTTC others(25): Show |
downstream_gene_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 241 | 0.0041 | 32 | c.*51 others(41): Show |
PRR19 | ENSG00000188368.11 | transcript | ENST00000341747.8 | protein_coding | 446 | chr19 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289441 | G | GGTGATGG others(25): Show |
upstream_gene_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0004 | 1 | 430 | 0.0023 | 32 | c.-15 others(43): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1396 | chr3 | TogoVar | |||||||
PRR27_chr4_70149237_70171609 | 70160443 | C | CTCTCTCT others(25): Show |
intron_variant | MODIFIER | HG03492.hp2 HG04184.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0034 | 2 | 26 | 0.0769 | 32 | c.649 others(49): Show |
PRR27 | ENSG00000187533.14 | transcript | ENST00000344526.10 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PRR30_chr2_27131848_27144410 | 27143768 | A | AGAAAAAA others(25): Show |
upstream_gene_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 384 | 0.0026 | 32 | c.-48 others(43): Show |
PRR30 | ENSG00000186143.11 | transcript | ENST00000335524.7 | protein_coding | 4359 | chr2 | TogoVar | |||||||
PRR35_chr16_555394_570529 | 570405 | T | TGTTTGTT others(25): Show |
downstream_gene_variant | MODIFIER | NA19010.hp2 | a0015 | a0015c0010 | a0015c0010t0005 | a0015c0010t0005g0001 | 1 | 422 | 0.0024 | 32 | c.*50 others(43): Show |
PRR35 | ENSG00000161992.6 | transcript | ENST00000409413.4 | protein_coding | 4877 | chr16 | TogoVar | |||||||
PRR5L_chr11_36291288_36470204 | 36350906 | A | ATATATAA others(25): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 242 | 0.0041 | 32 | c.-12 others(53): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PRR5L_chr11_36291288_36470204 | 36350906 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00642.hp2 HG00733.hp1 others(25): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0075 a0001c0001t0001g0085 a0001c0001t0001g0089 others(25): Show |
28 | 269 | 0.1041 | 32 | c.-12 others(53): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PRR5L_chr11_36291288_36470204 | 36350998 | A | ATATATTT others(25): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(34): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(8): Show | a0001c0001t0001g0004 a0001c0001t0001g0029 a0001c0001t0001g0103 others(34): Show |
37 | 236 | 0.1568 | 32 | c.-12 others(53): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PRR5L_chr11_36291288_36470204 | 36351666 | T | TTTATATA others(25): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01884.hp1 HG01975.hp1 others(9): Show |
a0001a0002a0007 | a0001c0001a0001c0004a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0115 a0001c0001t0001g0121 a0001c0001t0001g0146 others(9): Show |
12 | 262 | 0.0458 | 32 | c.-12 others(53): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PRRC2B_chr9_131389086_131505193 | 131448543 | C | CAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG01358.hp1 HG02738.hp1 |
a0001 | a0001c0001a0001c0041 | a0001c0001t0001a0001c0041t0001 | a0001c0001t0001g0073 a0001c0041t0001g0048 |
2 | 68 | 0.0294 | 32 | c.112 others(49): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 9/31 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PRRC2C_chr1_171480530_171598511 | 171518495 | T | TTTTTTTT others(25): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00733.hp2 HG00738.hp1 others(19): Show |
a0001a0007 | a0001c0005a0007c0012 | a0001c0005t0001a0001c0005t0004a0001c0005t0016others(1): Show | a0001c0005t0001g0083 a0001c0005t0001g0263 a0001c0005t0001g0264 others(19): Show |
22 | 266 | 0.0827 | 32 | c.750 others(47): Show |
PRRC2C | ENSG00000117523.18 | transcript | ENST00000647382.2 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRRC2C_chr1_171480530_171598511 | 171569575 | A | AATATATA others(25): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02630.hp2 HG03540.hp1 others(5): Show |
a0001a0003 | a0001c0001a0001c0008a0003c0002 | a0001c0001t0001a0001c0008t0001a0003c0002t0003 | a0001c0001t0001g0031 a0001c0001t0001g0039 a0001c0001t0001g0058 others(5): Show |
8 | 72 | 0.1111 | 32 | c.665 others(51): Show |
PRRC2C | ENSG00000117523.18 | transcript | ENST00000647382.2 | protein_coding | 23/34 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRRG1_chrX_37344364_37462291 | 37376551 | G | GTATATAT others(25): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG01069.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0022 others(13): Show |
18 | 21 | 0.8571 | 32 | c.-42 others(51): Show |
PRRG1 | ENSG00000130962.18 | transcript | ENST00000378628.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PRRG3_chrX_151690458_151710924 | 151697094 | T | TCCTTCCT others(25): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG02135.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0014 a0001c0001t0001g0047 a0001c0001t0002g0008 others(12): Show |
20 | 142 | 0.1408 | 32 | c.-32 others(49): Show |
PRRG3 | ENSG00000130032.17 | transcript | ENST00000674457.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PRRX1_chr1_170659131_170744421 | 170723426 | G | GAAAATTA others(25): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02280.hp1 HG02559.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0120 a0001c0001t0007g0148 a0001c0001t0007g0149 others(2): Show |
5 | 354 | 0.0141 | 32 | c.418 others(49): Show |
PRRX1 | ENSG00000116132.12 | transcript | ENST00000239461.11 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
PRRX2_chr9_129660647_129727674 | 129715750 | T | TCTCTCTC others(25): Show |
intron_variant | MODIFIER | NA18974.hp1 NA19084.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0072 a0001c0001t0006g0047 |
2 | 117 | 0.0171 | 32 | c.260 others(49): Show |
PRRX2 | ENSG00000167157.11 | transcript | ENST00000372469.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PRSS41_chr16_2793470_2810304 | 2795137 | T | TATATATA others(25): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 HG03209.hp2 NA18947.hp2 |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0003c0006t0001 | a0001c0001t0001g0003 a0001c0001t0001g0016 a0003c0006t0001g0025 |
3 | 224 | 0.0134 | 32 | c.-33 others(43): Show |
PRSS41 | ENSG00000215148.11 | transcript | ENST00000399677.5 | protein_coding | 3332 | chr16 | TogoVar | |||||||
PRSS41_chr16_2793470_2810304 | 2795173 | T | TATATACA others(25): Show |
upstream_gene_variant | MODIFIER | HG02486.hp1 HG02895.hp1 HG02897.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 6 | 414 | 0.0145 | 32 | c.-33 others(43): Show |
PRSS41 | ENSG00000215148.11 | transcript | ENST00000399677.5 | protein_coding | 3296 | chr16 | TogoVar | |||||||
PRSS55_chr8_10520532_10543819 | 10543423 | T | TCTTTCTT others(25): Show |
downstream_gene_variant | MODIFIER | NA18747.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0002 | 1 | 444 | 0.0023 | 32 | c.*46 others(43): Show |
PRSS55 | ENSG00000184647.11 | transcript | ENST00000328655.8 | protein_coding | 4605 | chr8 | TogoVar | |||||||
PRSS55_chr8_10520532_10543819 | 10543441 | T | TTCCTTCC others(25): Show |
downstream_gene_variant | MODIFIER | NA19086.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0002 | 1 | 469 | 0.0021 | 32 | c.*46 others(43): Show |
PRSS55 | ENSG00000184647.11 | transcript | ENST00000328655.8 | protein_coding | 4623 | chr8 | TogoVar | |||||||
PRSS55_chr8_10520532_10543819 | 10543463 | C | CCTTCCAT others(25): Show |
downstream_gene_variant | MODIFIER | HG02027.hp1 NA18948.hp2 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0002 a0003c0003t0001g0037 |
2 | 65 | 0.0308 | 32 | c.*46 others(43): Show |
PRSS55 | ENSG00000184647.11 | transcript | ENST00000328655.8 | protein_coding | 4645 | chr8 | TogoVar | |||||||
PRSS55_chr8_10520532_10543819 | 10543481 | T | TTTCTTTT others(25): Show |
downstream_gene_variant | MODIFIER | HG02647.hp1 HG02965.hp2 HG02970.hp1 |
a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0005 | 3 | 454 | 0.0066 | 32 | c.*46 others(43): Show |
PRSS55 | ENSG00000184647.11 | transcript | ENST00000328655.8 | protein_coding | 4663 | chr8 | TogoVar | |||||||
PRTFDC1_chr10_24843614_24957606 | 24844947 | C | CCAGACCA others(25): Show |
downstream_gene_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0101 | 1 | 336 | 0.0030 | 32 | c.*48 others(43): Show |
PRTFDC1 | ENSG00000099256.19 | transcript | ENST00000320152.11 | protein_coding | 3666 | chr10 | TogoVar | |||||||
PRTFDC1_chr10_24843614_24957606 | 24880813 | C | CTCTTTCT others(25): Show |
intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0165 | 1 | 92 | 0.0109 | 32 | c.340 others(49): Show |
PRTFDC1 | ENSG00000099256.19 | transcript | ENST00000320152.11 | protein_coding | 3/8 | chr10 | TogoVar | |||||||
PRUNE2_chr9_76606376_76911114 | 76855082 | A | AAAAAAAA others(25): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0008 | a0008c0041 | a0008c0041t0001 | a0008c0041t0001g0110 | 1 | 150 | 0.0067 | 32 | c.37- others(45): Show |
PRUNE2 | ENSG00000106772.19 | transcript | ENST00000376718.8 | protein_coding | 1/18 | chr9 | TogoVar | |||||||
PRUNE2_chr9_76606376_76911114 | 76879903 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0012 | 1 | 62 | 0.0161 | 32 | c.37- others(49): Show |
PRUNE2 | ENSG00000106772.19 | transcript | ENST00000376718.8 | protein_coding | 1/18 | chr9 | TogoVar | |||||||
PSAT1_chr9_78292125_78335093 | 78326955 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0002 | a0002c0008 | a0002c0008t0003 | a0002c0008t0003g0143 | 1 | 156 | 0.0064 | 32 | c.870 others(49): Show |
PSAT1 | ENSG00000135069.14 | transcript | ENST00000376588.4 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PSD2_chr5_139790808_139849466 | 139830565 | C | CCTTCCTT others(25): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0049 | 1 | 229 | 0.0044 | 32 | c.127 others(51): Show |
PSD2 | ENSG00000146005.4 | transcript | ENST00000274710.4 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PSD2_chr5_139790808_139849466 | 139830565 | C | CCTTCCTT others(25): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0222 | 1 | 229 | 0.0044 | 32 | c.127 others(51): Show |
PSD2 | ENSG00000146005.4 | transcript | ENST00000274710.4 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PSD2_chr5_139790808_139849466 | 139830565 | C | CCTTCCTT others(25): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0193 | 1 | 229 | 0.0044 | 32 | c.127 others(51): Show |
PSD2 | ENSG00000146005.4 | transcript | ENST00000274710.4 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PSD2_chr5_139790808_139849466 | 139830626 | C | CTCTTTCT others(25): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG01257.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0022 | a0001c0001t0001g0073 a0001c0001t0002g0063 a0001c0001t0002g0071 others(6): Show |
9 | 82 | 0.1098 | 32 | c.127 others(51): Show |
PSD2 | ENSG00000146005.4 | transcript | ENST00000274710.4 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PSD2_chr5_139790808_139849466 | 139830626 | C | CTTTCTCT others(25): Show |
intron_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0060 | 1 | 74 | 0.0135 | 32 | c.127 others(51): Show |
PSD2 | ENSG00000146005.4 | transcript | ENST00000274710.4 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PSD3_chr8_18522303_19018703 | 18759078 | T | TCACACAC others(25): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01952.hp1 NA18965.hp2 others(2): Show |
a0001a0002a0004 | a0001c0001a0001c0017a0002c0032others(1): Show | a0001c0001t0054a0001c0001t0057a0001c0017t0005others(2): Show | a0001c0001t0054g0054 a0001c0001t0057g0070 a0001c0017t0005g0030 others(2): Show |
5 | 173 | 0.0289 | 32 | c.217 others(51): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 9/15 | chr8 | TogoVar |