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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PDZD2_chr5_31634131_32115932 | 31878555 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 216 | 0.0046 | 26 | c.476 others(45): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 31969509 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG01361.hp1 HG02717.hp2 HG04204.hp2 |
a0001a0002 | a0001c0005a0001c0007a0002c0011 | a0001c0005t0001a0001c0007t0009a0002c0011t0001 | a0001c0005t0001g0123 a0001c0007t0009g0172 a0002c0011t0001g0080 |
3 | 216 | 0.0139 | 26 | c.477 others(45): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 31989427 | T | TTTTTTTT others(19): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0197 | 1 | 216 | 0.0046 | 26 | c.978 others(43): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDZRN4_chr12_41183320_41579745 | 41214430 | T | TAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG00099.hp1 NA18978.hp2 NA19000.hp1 others(2): Show |
a0001a0003a0004others(2): Show | a0001c0001a0003c0003a0004c0005others(2): Show | a0001c0001t0002a0003c0003t0001a0004c0005t0001others(2): Show | a0001c0001t0002g0156 a0003c0003t0001g0067 a0004c0005t0001g0074 others(2): Show |
5 | 206 | 0.0243 | 26 | c.843 others(45): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PDZRN4_chr12_41183320_41579745 | 41317048 | G | GTATACAT others(19): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01981.hp1 HG01981.hp2 others(12): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0004a0002c0002others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(10): Show | a0001c0001t0001g0063 a0001c0001t0001g0152 a0001c0001t0002g0041 others(12): Show |
15 | 206 | 0.0728 | 26 | c.843 others(47): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PDZRN4_chr12_41183320_41579745 | 41317048 | G | GTATACAT others(19): Show |
intron_variant | MODIFIER | HG01258.hp2 NA18953.hp1 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0002a0003c0003t0001 | a0002c0002t0002g0162 a0003c0003t0001g0120 |
2 | 206 | 0.0097 | 26 | c.843 others(47): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PEAK1_chr15_77103158_77425104 | 77298197 | A | ATTTTTTT others(19): Show |
intron_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 326 | 0.0031 | 26 | c.-60 others(47): Show |
PEAK1 | ENSG00000173517.11 | transcript | ENST00000682557.1 | protein_coding | 2/9 | chr15 | TogoVar | |||||||
PEBP4_chr8_22708251_22932914 | 22822355 | G | GTGTGTGT others(19): Show |
intron_variant | MODIFIER | HG02258.hp2 HG03516.hp2 |
a0002a0003 | a0002c0002a0003c0033 | a0002c0002t0001a0003c0033t0008 | a0002c0002t0001g0043 a0003c0033t0008g0026 |
2 | 278 | 0.0072 | 26 | c.259 others(43): Show |
PEBP4 | ENSG00000134020.8 | transcript | ENST00000256404.8 | protein_coding | 3/6 | chr8 | TogoVar | |||||||
PECAM1_chr17_64314415_64395860 | 64361129 | A | ATGTGTGT others(19): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0004 | a0004c0008 | a0004c0008t0006 | a0004c0008t0006g0117 | 1 | 288 | 0.0035 | 26 | c.121 others(43): Show |
PECAM1 | ENSG00000261371.6 | transcript | ENST00000563924.6 | protein_coding | 6/15 | chr17 | TogoVar | |||||||
PECR_chr2_216033388_216086809 | 216043084 | C | CACATATA others(19): Show |
intron_variant | MODIFIER | HG01975.hp2 HG02055.hp1 HG02280.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 a0001c0001t0001g0212 a0001c0001t0001g0213 others(4): Show |
7 | 398 | 0.0176 | 26 | c.826 others(41): Show |
PECR | ENSG00000115425.14 | transcript | ENST00000265322.8 | protein_coding | 7/7 | chr2 | TogoVar | |||||||
PELI3_chr11_66461905_66482337 | 66473752 | T | TGGCGGAC others(19): Show |
frameshift_variant | HIGH | NA18991.hp2 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0100 | 1 | 396 | 0.0025 | 26 | c.677 others(33): Show |
p.Asp others(5): Show |
PELI3 | ENSG00000174516.15 | transcript | ENST00000320740.12 | protein_coding | 7/8 | 802/2704 | 678/1410 | 226/469 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
PEPD_chr19_33381950_33526791 | 33431992 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0068 | 1 | 314 | 0.0032 | 26 | c.672 others(45): Show |
PEPD | ENSG00000124299.16 | transcript | ENST00000244137.12 | protein_coding | 9/14 | chr19 | TogoVar | |||||||
PER1_chr17_8135472_8157404 | 8156823 | C | CGAGCGTG others(19): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(301): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0003a0001c0004others(41): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0005others(44): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0010 others(114): Show |
304 | 426 | 0.7136 | 26 | c.-46 others(37): Show |
PER1 | ENSG00000179094.16 | transcript | ENST00000317276.9 | protein_coding | 4420 | chr17 | TogoVar | |||||||
PER3_chr1_7779291_7850177 | 7806812 | A | AAAAAAAA others(19): Show |
intron_variant | MODIFIER | NA18946.hp2 NA18948.hp1 |
a0001a0015 | a0001c0003a0015c0018 | a0001c0003t0001a0015c0018t0001 | a0001c0003t0001g0141 a0015c0018t0001g0150 |
2 | 410 | 0.0049 | 26 | c.113 others(45): Show |
PER3 | ENSG00000049246.15 | transcript | ENST00000377532.8 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PER3_chr1_7779291_7850177 | 7806812 | A | AAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0118 | 1 | 410 | 0.0024 | 26 | c.113 others(45): Show |
PER3 | ENSG00000049246.15 | transcript | ENST00000377532.8 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PER3_chr1_7779291_7850177 | 7806812 | A | AAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0004 | a0001c0004t0011 | a0001c0004t0011g0058 | 1 | 410 | 0.0024 | 26 | c.113 others(45): Show |
PER3 | ENSG00000049246.15 | transcript | ENST00000377532.8 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PER3_chr1_7779291_7850177 | 7815991 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0142 | 1 | 410 | 0.0024 | 26 | c.152 others(45): Show |
PER3 | ENSG00000049246.15 | transcript | ENST00000377532.8 | protein_coding | 13/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PERCC1_chr16_1426078_1439441 | 1432006 | T | TTGATCAA others(19): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00642.hp2 HG01099.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0012 | 4 | 378 | 0.0106 | 26 | c.-47 others(41): Show |
PERCC1 | ENSG00000284395.2 | transcript | ENST00000640283.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PERM1_chr1_970198_987093 | 984620 | T | TTCTTTCT others(19): Show |
upstream_gene_variant | MODIFIER | HG01192.hp1 HG01257.hp2 HG01258.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0002 | a0001c0001t0003g0029 a0002c0002t0002g0010 |
4 | 408 | 0.0098 | 26 | c.-27 others(37): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2528 | chr1 | TogoVar | |||||||
PERP_chr6_138083505_138112419 | 138083614 | A | AAAGAGCT others(19): Show |
downstream_gene_variant | MODIFIER | HG01167.hp2 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0030 | 2 | 430 | 0.0047 | 26 | c.*84 others(37): Show |
PERP | ENSG00000112378.12 | transcript | ENST00000421351.4 | protein_coding | 4890 | chr6 | TogoVar | |||||||
PERP_chr6_138083505_138112419 | 138086314 | A | AATATATA others(19): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00621.hp1 HG01361.hp1 others(19): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0018others(8): Show | a0001c0001t0001g0001 a0001c0001t0004g0004 a0001c0001t0004g0010 others(10): Show |
22 | 430 | 0.0512 | 26 | c.*57 others(37): Show |
PERP | ENSG00000112378.12 | transcript | ENST00000421351.4 | protein_coding | 2190 | chr6 | TogoVar | |||||||
PEX10_chr1_2398974_2417564 | 2401241 | T | TTCCCCTC others(19): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(25): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0009 | a0001c0001t0001a0001c0002t0001a0001c0002t0006others(3): Show | a0001c0001t0001g0071 a0001c0001t0001g0099 a0001c0002t0001g0005 others(9): Show |
28 | 358 | 0.0782 | 26 | c.*45 others(37): Show |
PEX10 | ENSG00000157911.11 | transcript | ENST00000447513.7 | protein_coding | 2732 | chr1 | TogoVar | |||||||
PEX10_chr1_2398974_2417564 | 2401381 | C | CTTCCTCC others(19): Show |
downstream_gene_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0066 | 1 | 358 | 0.0028 | 26 | c.*43 others(37): Show |
PEX10 | ENSG00000157911.11 | transcript | ENST00000447513.7 | protein_coding | 2592 | chr1 | TogoVar | |||||||
PEX10_chr1_2398974_2417564 | 2401391 | C | CTTCCTCC others(19): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 HG01934.hp1 HG02559.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0021 | a0001c0001t0005g0007 a0001c0001t0005g0040 a0001c0001t0005g0081 others(2): Show |
9 | 358 | 0.0251 | 26 | c.*43 others(37): Show |
PEX10 | ENSG00000157911.11 | transcript | ENST00000447513.7 | protein_coding | 2582 | chr1 | TogoVar | |||||||
PEX11G_chr19_7471875_7494035 | 7474754 | A | AGTGTGTG others(19): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 HG02280.hp2 HG02572.hp1 others(4): Show |
a0001 | a0001c0003a0001c0004a0001c0005 | a0001c0003t0001a0001c0004t0001a0001c0005t0001 | a0001c0003t0001g0005 a0001c0004t0001g0003 a0001c0005t0001g0006 |
7 | 416 | 0.0168 | 26 | c.*24 others(37): Show |
PEX11G | ENSG00000104883.8 | transcript | ENST00000221480.6 | protein_coding | 2120 | chr19 | TogoVar | |||||||
PEX5L_chr3_179789958_180041937 | 180024347 | A | AATATATA others(19): Show |
intron_variant | MODIFIER | HG02015.hp2 HG02970.hp1 HG02976.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0044a0001c0001t0078others(1): Show | a0001c0001t0002g0199 a0001c0001t0044g0092 a0001c0001t0078g0068 others(1): Show |
4 | 220 | 0.0182 | 26 | c.21+ others(43): Show |
PEX5L | ENSG00000114757.19 | transcript | ENST00000467460.6 | protein_coding | 1/14 | chr3 | TogoVar | |||||||
PEX5L_chr3_179789958_180041937 | 180024373 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02572.hp1 HG03490.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0047a0002c0002t0016 | a0001c0001t0003g0101 a0001c0001t0047g0084 a0002c0002t0016g0187 |
3 | 220 | 0.0136 | 26 | c.21+ others(43): Show |
PEX5L | ENSG00000114757.19 | transcript | ENST00000467460.6 | protein_coding | 1/14 | chr3 | TogoVar | |||||||
PEX5_chr12_7184686_7216459 | 7197216 | G | GTAATAAT others(19): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0293 | 1 | 428 | 0.0023 | 26 | c.449 others(43): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PEX5_chr12_7184686_7216459 | 7197541 | A | ATTATATG others(19): Show |
intron_variant | MODIFIER | HG01884.hp2 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0212 a0001c0001t0004g0213 |
2 | 428 | 0.0047 | 26 | c.449 others(43): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3079657 | C | CGGGGGGG others(19): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0153 | 1 | 402 | 0.0025 | 26 | c.113 others(43): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3084774 | A | AGCCCCCT others(19): Show |
intron_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0278 | 1 | 402 | 0.0025 | 26 | c.186 others(43): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | chr10 | TogoVar | |||||||
PFKP_chr10_3062548_3141802 | 3084854 | C | CCCAGCAC others(19): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0384 | 1 | 402 | 0.0025 | 26 | c.186 others(43): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3084864 | T | TCCCCCAC others(19): Show |
intron_variant | MODIFIER | NA18939.hp1 NA18981.hp1 |
a0001 | a0001c0006a0001c0007 | a0001c0006t0001a0001c0007t0005 | a0001c0006t0001g0291 a0001c0007t0005g0350 |
2 | 402 | 0.0050 | 26 | c.186 others(43): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3084889 | T | TCCCCCAC others(19): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0341 | 1 | 402 | 0.0025 | 26 | c.186 others(43): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3084914 | T | TCCCCCAC others(19): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0029 | a0001c0029t0001 | a0001c0029t0001g0275 | 1 | 402 | 0.0025 | 26 | c.186 others(43): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PFKP_chr10_3062548_3141802 | 3085676 | C | CACTCTCC others(19): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0046 | a0001c0046t0003 | a0001c0046t0003g0364 | 1 | 402 | 0.0025 | 26 | c.186 others(43): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | chr10 | TogoVar | |||||||
PGAM1_chr10_97421191_97438444 | 97425901 | C | CCGCCGCC others(19): Show |
upstream_gene_variant | MODIFIER | HG02886.hp2 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0072 a0001c0001t0003g0035 |
2 | 438 | 0.0046 | 26 | c.-40 others(35): Show |
PGAM1 | ENSG00000171314.9 | transcript | ENST00000334828.6 | protein_coding | 289 | chr10 | TogoVar | |||||||
PGAP2_chr11_3803560_3831371 | 3812651 | T | TGGGGTCC others(19): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0253 | 1 | 418 | 0.0024 | 26 | c.165 others(43): Show |
PGAP2 | ENSG00000148985.20 | transcript | ENST00000278243.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PGAP3_chr17_39666122_39693057 | 39691556 | A | AAAAAAAA others(19): Show |
upstream_gene_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 376 | 0.0027 | 26 | c.-35 others(37): Show |
PGAP3 | ENSG00000161395.14 | transcript | ENST00000300658.9 | protein_coding | 3500 | chr17 | TogoVar | |||||||
PGAP3_chr17_39666122_39693057 | 39691934 | C | CATATACA others(19): Show |
upstream_gene_variant | MODIFIER | HG03225.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 a0001c0001t0001g0165 |
2 | 376 | 0.0053 | 26 | c.-39 others(37): Show |
PGAP3 | ENSG00000161395.14 | transcript | ENST00000300658.9 | protein_coding | 3878 | chr17 | TogoVar | |||||||
PGGT1B_chr5_115199012_115267877 | 115207180 | C | CATATATA others(19): Show |
3_prime_UTR_variant | MODIFIER | HG01168.hp1 HG01433.hp1 HG01975.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0068a0001c0001t0072a0001c0001t0103others(1): Show | a0001c0001t0068g0033 a0001c0001t0072g0111 a0001c0001t0103g0191 others(1): Show |
4 | 372 | 0.0108 | 26 | c.*51 others(37): Show |
PGGT1B | ENSG00000164219.10 | transcript | ENST00000419445.6 | protein_coding | 9/9 | 5221 | chr5 | TogoVar | ||||||
PGGT1B_chr5_115199012_115267877 | 115238291 | A | ATTTTTTT others(19): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0289 | 1 | 372 | 0.0027 | 26 | c.328 others(41): Show |
PGGT1B | ENSG00000164219.10 | transcript | ENST00000419445.6 | protein_coding | 3/8 | chr5 | TogoVar | |||||||
PGLYRP4_chr1_153325120_153353841 | 153350632 | G | GGAAAGAA others(19): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 NA19006.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0002g0007 |
2 | 392 | 0.0051 | 26 | c.-21 others(37): Show |
PGLYRP4 | ENSG00000163218.15 | transcript | ENST00000359650.10 | protein_coding | 1792 | chr1 | TogoVar | |||||||
PGM2L1_chr11_74325316_74403433 | 74383824 | A | AATAAATA others(19): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02886.hp1 HG03486.hp2 |
a0001a0003a0007 | a0001c0004a0003c0006a0007c0010 | a0001c0004t0025a0003c0006t0015a0007c0010t0025 | a0001c0004t0025g0281 a0003c0006t0015g0022 a0007c0010t0025g0282 |
3 | 380 | 0.0079 | 26 | c.112 others(43): Show |
PGM2L1 | ENSG00000165434.8 | transcript | ENST00000298198.5 | protein_coding | 1/13 | chr11 | TogoVar | |||||||
PGM2L1_chr11_74325316_74403433 | 74383824 | A | AATATATA others(19): Show |
intron_variant | MODIFIER | HG01081.hp1 HG02258.hp1 HG03834.hp1 others(2): Show |
a0001a0002 | a0001c0004a0002c0002 | a0001c0004t0013a0002c0002t0004a0002c0002t0005others(1): Show | a0001c0004t0013g0108 a0002c0002t0004g0212 a0002c0002t0005g0172 others(2): Show |
5 | 380 | 0.0132 | 26 | c.112 others(43): Show |
PGM2L1 | ENSG00000165434.8 | transcript | ENST00000298198.5 | protein_coding | 1/13 | chr11 | TogoVar | |||||||
PGM2_chr4_37821686_37867937 | 37841072 | G | GTATATAT others(19): Show |
intron_variant | MODIFIER | HG02300.hp2 HG04184.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0320 a0001c0001t0001g0321 |
2 | 446 | 0.0045 | 26 | c.719 others(41): Show |
PGM2 | ENSG00000169299.14 | transcript | ENST00000381967.9 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PGM2_chr4_37821686_37867937 | 37841100 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0322 | 1 | 446 | 0.0022 | 26 | c.719 others(41): Show |
PGM2 | ENSG00000169299.14 | transcript | ENST00000381967.9 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PGM5_chr9_68351611_68536061 | 68376834 | T | TTTCTCTT others(19): Show |
intron_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0003 | a0001c0003t0014 | a0001c0003t0014g0011 | 1 | 246 | 0.0041 | 26 | c.262 others(43): Show |
PGM5 | ENSG00000154330.13 | transcript | ENST00000396396.6 | protein_coding | 1/10 | chr9 | TogoVar | |||||||
PGPEP1_chr19_18335598_18374950 | 18338732 | T | TAAAAAAA others(19): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 HG02809.hp1 HG02809.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0034a0001c0001t0060a0001c0001t0213others(4): Show | a0001c0001t0034g0026 a0001c0001t0060g0053 a0001c0001t0213g0299 others(4): Show |
7 | 412 | 0.0170 | 26 | c.-19 others(37): Show |
PGPEP1 | ENSG00000130517.14 | transcript | ENST00000269919.11 | protein_coding | 1865 | chr19 | TogoVar | |||||||
PGPEP1_chr19_18335598_18374950 | 18352266 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0110 | a0001c0001t0110g0216 | 1 | 412 | 0.0024 | 26 | c.88- others(41): Show |
PGPEP1 | ENSG00000130517.14 | transcript | ENST00000269919.11 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |