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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PDGFRL_chr8_17572216_17648144 | 17641896 | T | TCCCCGCC others(10): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00597.hp1 others(175): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0007others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(10): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(173): Show |
178 | 400 | 0.4450 | 17 | c.940 others(32): Show |
PDGFRL | ENSG00000104213.13 | transcript | ENST00000251630.11 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PDGFRL_chr8_17572216_17648144 | 17641896 | T | TCCCCGCC others(10): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02258.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0235 a0001c0001t0001g0243 |
2 | 400 | 0.0050 | 17 | c.940 others(32): Show |
PDGFRL | ENSG00000104213.13 | transcript | ENST00000251630.11 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PDHX_chr11_34911618_35001128 | 34980352 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG03139.hp1 HG03516.hp1 NA18522.hp1 |
a0006 | a0006c0011 | a0006c0011t0001 | a0006c0011t0001g0198 a0006c0011t0001g0200 a0006c0011t0001g0201 |
3 | 314 | 0.0096 | 17 | c.102 others(36): Show |
PDHX | ENSG00000110435.13 | transcript | ENST00000227868.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PDIA2_chr16_278164_292215 | 285835 | A | ATTCTCCC others(10): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0002 | a0002c0036 | a0002c0036t0001 | a0002c0036t0001g0070 | 1 | 436 | 0.0023 | 17 | c.111 others(34): Show |
PDIA2 | ENSG00000185615.16 | transcript | ENST00000219406.11 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PDIA2_chr16_278164_292215 | 285931 | C | CCCCAACC others(10): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0008 | a0008c0009 | a0008c0009t0001 | a0008c0009t0001g0164 | 1 | 436 | 0.0023 | 17 | c.111 others(34): Show |
PDIA2 | ENSG00000185615.16 | transcript | ENST00000219406.11 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PDIA2_chr16_278164_292215 | 285937 | C | CCCCAACC others(10): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0006 | a0006c0013 | a0006c0013t0001 | a0006c0013t0001g0060 | 1 | 436 | 0.0023 | 17 | c.111 others(34): Show |
PDIA2 | ENSG00000185615.16 | transcript | ENST00000219406.11 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PDIA2_chr16_278164_292215 | 285943 | C | CCCCAACC others(10): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0024 | a0024c0039 | a0024c0039t0002 | a0024c0039t0002g0057 | 1 | 436 | 0.0023 | 17 | c.111 others(34): Show |
PDIA2 | ENSG00000185615.16 | transcript | ENST00000219406.11 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PDIA2_chr16_278164_292215 | 285949 | C | CCCCAACC others(10): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01496.hp2 HG01515.hp1 others(3): Show |
a0001a0005 | a0001c0001a0005c0015 | a0001c0001t0001a0001c0001t0002a0005c0015t0001 | a0001c0001t0001g0023 a0001c0001t0002g0066 a0005c0015t0001g0023 others(1): Show |
6 | 436 | 0.0138 | 17 | c.111 others(34): Show |
PDIA2 | ENSG00000185615.16 | transcript | ENST00000219406.11 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PDIA2_chr16_278164_292215 | 289743 | G | GCCCGAGG others(10): Show |
downstream_gene_variant | MODIFIER | NA18956.hp1 | a0008 | a0008c0009 | a0008c0009t0001 | a0008c0009t0001g0162 | 1 | 436 | 0.0023 | 17 | c.*26 others(28): Show |
PDIA2 | ENSG00000185615.16 | transcript | ENST00000219406.11 | protein_coding | 2529 | chr16 | TogoVar | |||||||
PDIA2_chr16_278164_292215 | 289743 | G | GCCCGAGG others(10): Show |
downstream_gene_variant | MODIFIER | HG01361.hp2 HG01934.hp2 NA18947.hp2 others(3): Show |
a0006a0008a0010 | a0006c0024a0008c0009a0010c0018 | a0006c0024t0001a0008c0009t0001a0010c0018t0001 | a0006c0024t0001g0111 a0008c0009t0001g0159 a0008c0009t0001g0164 others(2): Show |
6 | 436 | 0.0138 | 17 | c.*26 others(28): Show |
PDIA2 | ENSG00000185615.16 | transcript | ENST00000219406.11 | protein_coding | 2529 | chr16 | TogoVar | |||||||
PDILT_chr16_20354175_20409737 | 20398274 | T | TGCTGATG others(10): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0006 | a0006c0010 | a0006c0010t0002 | a0006c0010t0002g0011 | 1 | 406 | 0.0025 | 17 | c.202 others(32): Show |
PDILT | ENSG00000169340.10 | transcript | ENST00000302451.9 | protein_coding | 2/11 | chr16 | TogoVar | |||||||
PDK3_chrX_24460286_24539422 | 24496568 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG00738.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0002 a0001c0001t0002g0061 a0001c0001t0002g0065 others(15): Show |
20 | 258 | 0.0775 | 17 | c.248 others(34): Show |
PDK3 | ENSG00000067992.17 | transcript | ENST00000379162.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PDLIM1_chr10_95232572_95296003 | 95256986 | A | AAAAAGAA others(10): Show |
intron_variant | MODIFIER | HG02895.hp1 NA18985.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 a0001c0001t0001g0312 |
2 | 338 | 0.0059 | 17 | c.533 others(34): Show |
PDLIM1 | ENSG00000107438.9 | transcript | ENST00000329399.7 | protein_coding | 4/6 | chr10 | TogoVar | |||||||
PDLIM1_chr10_95232572_95296003 | 95256986 | A | AGAAAGAA others(10): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 338 | 0.0030 | 17 | c.533 others(34): Show |
PDLIM1 | ENSG00000107438.9 | transcript | ENST00000329399.7 | protein_coding | 4/6 | chr10 | TogoVar | |||||||
PDLIM2_chr8_22575475_22599298 | 22592077 | C | CTTTTCTT others(10): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0264 | 1 | 380 | 0.0026 | 17 | c.881 others(32): Show |
PDLIM2 | ENSG00000120913.24 | transcript | ENST00000409417.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PDLIM2_chr8_22575475_22599298 | 22592080 | T | TTCTTTTC others(10): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0082 | 1 | 380 | 0.0026 | 17 | c.881 others(32): Show |
PDLIM2 | ENSG00000120913.24 | transcript | ENST00000409417.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PDLIM3_chr4_185495660_185540507 | 185497978 | C | CAAAAAAA others(10): Show |
downstream_gene_variant | MODIFIER | HG02055.hp2 HG02280.hp1 HG02486.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0029 a0001c0002t0001g0108 a0001c0002t0001g0116 others(1): Show |
5 | 412 | 0.0121 | 17 | c.*43 others(28): Show |
PDLIM3 | ENSG00000154553.17 | transcript | ENST00000284767.12 | protein_coding | 2681 | chr4 | TogoVar | |||||||
PDLIM5_chr4_94446942_94673223 | 94494432 | G | GGTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01258.hp1 HG01258.hp2 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0004a0003c0004t0001 | a0001c0001t0004g0039 a0003c0004t0001g0120 |
2 | 218 | 0.0092 | 17 | c.97- others(34): Show |
PDLIM5 | ENSG00000163110.15 | transcript | ENST00000317968.9 | protein_coding | 2/12 | chr4 | TogoVar | |||||||
PDPK1_chr16_2533021_2608188 | 2533430 | A | ATTTTTTT others(10): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 HG02615.hp1 HG02615.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0010others(4): Show | a0001c0001t0001g0051 a0001c0001t0001g0072 a0001c0001t0001g0099 others(11): Show |
14 | 184 | 0.0761 | 17 | c.-46 others(28): Show |
PDPK1 | ENSG00000140992.19 | transcript | ENST00000342085.9 | protein_coding | 4590 | chr16 | TogoVar | |||||||
PDPK1_chr16_2533021_2608188 | 2534773 | C | CTTTTTTT others(10): Show |
upstream_gene_variant | MODIFIER | HG03579.hp1 NA19043.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0018a0001c0003t0038 | a0001c0001t0018g0179 a0001c0003t0038g0180 |
2 | 184 | 0.0109 | 17 | c.-33 others(28): Show |
PDPK1 | ENSG00000140992.19 | transcript | ENST00000342085.9 | protein_coding | 3247 | chr16 | TogoVar | |||||||
PDPN_chr1_13578832_13622957 | 13582083 | T | TAGACACA others(10): Show |
upstream_gene_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0377 | 1 | 446 | 0.0022 | 17 | c.-19 others(28): Show |
PDPN | ENSG00000162493.17 | transcript | ENST00000621990.5 | protein_coding | 1748 | chr1 | TogoVar | |||||||
PDPN_chr1_13578832_13622957 | 13599011 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02155.hp2 HG03710.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008 | a0001c0001t0003g0187 a0001c0001t0008g0037 |
2 | 446 | 0.0045 | 17 | c.68- others(32): Show |
PDPN | ENSG00000162493.17 | transcript | ENST00000621990.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PDPN_chr1_13578832_13622957 | 13601966 | C | CGGTGGCT others(10): Show |
intron_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0402 | 1 | 446 | 0.0022 | 17 | c.68- others(32): Show |
PDPN | ENSG00000162493.17 | transcript | ENST00000621990.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PDPN_chr1_13578832_13622957 | 13602046 | C | CCTTTGGG others(10): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03209.hp1 HG03453.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0053 | a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0002t0053g0308 |
3 | 446 | 0.0067 | 17 | c.68- others(32): Show |
PDPN | ENSG00000162493.17 | transcript | ENST00000621990.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PDPR_chr16_70109332_70167537 | 70133421 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01346.hp1 HG03098.hp1 |
a0001a0006 | a0001c0001a0006c0014 | a0001c0001t0049a0006c0014t0045 | a0001c0001t0049g0205 a0006c0014t0045g0222 |
2 | 289 | 0.0069 | 17 | c.997 others(34): Show |
PDPR | ENSG00000090857.14 | transcript | ENST00000288050.9 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PDPR_chr16_70109332_70167537 | 70138207 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0002 | a0002c0002 | a0002c0002t0013 | a0002c0002t0013g0086 | 1 | 289 | 0.0035 | 17 | c.119 others(34): Show |
PDPR | ENSG00000090857.14 | transcript | ENST00000288050.9 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PDS5A_chr4_39817863_39982911 | 39831875 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00099.hp2 NA19004.hp1 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0327 a0001c0002t0004g0353 |
2 | 356 | 0.0056 | 17 | c.401 others(36): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 32/32 | chr4 | TogoVar | |||||||
PDS5A_chr4_39817863_39982911 | 39930246 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0127 | 1 | 356 | 0.0028 | 17 | c.139 others(34): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 2/32 | chr4 | TogoVar | |||||||
PDS5A_chr4_39817863_39982911 | 39930246 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0133 | 1 | 356 | 0.0028 | 17 | c.139 others(34): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 2/32 | chr4 | TogoVar | |||||||
PDS5A_chr4_39817863_39982911 | 39930246 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0163 | 1 | 356 | 0.0028 | 17 | c.139 others(34): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 2/32 | chr4 | TogoVar | |||||||
PDS5B_chr13_32581452_32783019 | 32655370 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0039 | 1 | 334 | 0.0030 | 17 | c.313 others(34): Show |
PDS5B | ENSG00000083642.19 | transcript | ENST00000315596.15 | protein_coding | 3/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PDS5B_chr13_32581452_32783019 | 32655374 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0293 | 1 | 334 | 0.0030 | 17 | c.313 others(34): Show |
PDS5B | ENSG00000083642.19 | transcript | ENST00000315596.15 | protein_coding | 3/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PDS5B_chr13_32581452_32783019 | 32655374 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG02132.hp2 HG02895.hp1 |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0023 | a0001c0001t0017g0312 a0001c0001t0023g0299 |
2 | 334 | 0.0060 | 17 | c.313 others(34): Show |
PDS5B | ENSG00000083642.19 | transcript | ENST00000315596.15 | protein_coding | 3/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PDS5B_chr13_32581452_32783019 | 32655374 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0310 | 1 | 334 | 0.0030 | 17 | c.313 others(34): Show |
PDS5B | ENSG00000083642.19 | transcript | ENST00000315596.15 | protein_coding | 3/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PDS5B_chr13_32581452_32783019 | 32655375 | T | TATATATA others(10): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0007 | a0007c0009 | a0007c0009t0002 | a0007c0009t0002g0206 | 1 | 334 | 0.0030 | 17 | c.313 others(34): Show |
PDS5B | ENSG00000083642.19 | transcript | ENST00000315596.15 | protein_coding | 3/34 | chr13 | TogoVar | |||||||
PDSS1_chr10_26692701_26751798 | 26704083 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01891.hp1 HG02135.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0008 a0001c0001t0001g0037 a0001c0001t0001g0038 others(18): Show |
23 | 416 | 0.0553 | 17 | c.163 others(32): Show |
PDSS1 | ENSG00000148459.16 | transcript | ENST00000376215.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PDSS2_chr6_107147562_107464564 | 107227278 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 260 | 0.0039 | 17 | c.703 others(36): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 4/7 | chr6 | TogoVar | |||||||
PDSS2_chr6_107147562_107464564 | 107458412 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02897.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0013g0003 |
3 | 260 | 0.0115 | 17 | c.296 others(32): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
PDX1_chr13_27915000_27931313 | 27925364 | T | TCTCTCTT others(10): Show |
3_prime_UTR_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0017 | 1 | 434 | 0.0023 | 17 | c.*66 others(26): Show |
PDX1 | ENSG00000139515.6 | transcript | ENST00000381033.5 | protein_coding | 2/2 | 664 | chr13 | TogoVar | ||||||
PDXDC1_chr16_14970026_15043332 | 14984495 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0011 | a0001c0011t0018 | a0001c0011t0018g0106 | 1 | 279 | 0.0036 | 17 | c.21+ others(32): Show |
PDXDC1 | ENSG00000179889.20 | transcript | ENST00000396410.9 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PDXDC1_chr16_14970026_15043332 | 15032668 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG00738.hp2 others(44): Show |
a0002a0006a0010 | a0002c0002a0002c0004a0002c0007others(2): Show | a0002c0002t0001a0002c0002t0008a0002c0002t0009others(7): Show | a0002c0002t0001g0004 a0002c0002t0001g0007 a0002c0002t0001g0012 others(44): Show |
47 | 279 | 0.1685 | 17 | c.157 others(34): Show |
PDXDC1 | ENSG00000179889.20 | transcript | ENST00000396410.9 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 31694792 | T | TTATTTTA others(10): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01952.hp2 HG01978.hp1 others(3): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0003others(1): Show | a0001c0001t0001a0001c0005t0003a0002c0003t0005others(1): Show | a0001c0001t0001g0038 a0001c0001t0001g0047 a0001c0001t0001g0083 others(3): Show |
6 | 216 | 0.0278 | 17 | c.-36 others(38): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 1/24 | chr5 | TogoVar | |||||||
PDZD2_chr5_31634131_32115932 | 31816287 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02258.hp1 HG03209.hp2 others(1): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0001c0001t0008a0001c0001t0041others(1): Show | a0001c0001t0001g0045 a0001c0001t0008g0181 a0001c0001t0041g0210 others(1): Show |
4 | 216 | 0.0185 | 17 | c.476 others(36): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 31856429 | A | AGAAAGGG others(10): Show |
intron_variant | MODIFIER | HG02717.hp1 NA19240.hp1 |
a0001a0010 | a0001c0001a0010c0039 | a0001c0001t0010a0010c0039t0030 | a0001c0001t0010g0040 a0010c0039t0030g0216 |
2 | 216 | 0.0093 | 17 | c.476 others(36): 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(10): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00621.hp2 HG02080.hp2 others(5): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0003a0002c0011others(3): Show | a0001c0001t0001a0001c0001t0044a0002c0003t0002others(4): Show | a0001c0001t0001g0138 a0001c0001t0001g0162 a0001c0001t0044g0006 others(5): Show |
8 | 216 | 0.0370 | 17 | c.477 others(36): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 31969509 | C | CCAAAAAA others(10): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0030 | a0030c0057 | a0030c0057t0001 | a0030c0057t0001g0137 | 1 | 216 | 0.0046 | 17 | c.477 others(36): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | chr5 | TogoVar | |||||||
PDZD2_chr5_31634131_32115932 | 32025591 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0095 | 1 | 216 | 0.0046 | 17 | c.140 others(38): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 6/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDZD7_chr10_101002679_101036129 | 101010920 | C | CCCTCCCA others(10): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01257.hp2 HG01258.hp1 others(22): Show |
a0001a0004a0005 | a0001c0001a0001c0026a0004c0004others(4): Show | a0001c0001t0004a0001c0001t0006a0001c0026t0001others(11): Show | a0001c0001t0004g0155 a0001c0001t0006g0196 a0001c0026t0001g0133 others(22): Show |
25 | 432 | 0.0579 | 17 | c.200 others(32): Show |
PDZD7 | ENSG00000186862.20 | transcript | ENST00000619208.6 | protein_coding | 14/16 | chr10 | TogoVar | |||||||
PDZD7_chr10_101002679_101036129 | 101017840 | A | AAGAAGAA others(10): Show |
intron_variant | MODIFIER | NA18949.hp1 | a0017 | a0017c0040 | a0017c0040t0005 | a0017c0040t0005g0347 | 1 | 432 | 0.0023 | 17 | c.152 others(34): Show |
PDZD7 | ENSG00000186862.20 | transcript | ENST00000619208.6 | protein_coding | 9/16 | chr10 | TogoVar | |||||||
PDZD7_chr10_101002679_101036129 | 101017854 | A | AGAAAGAA others(10): Show |
intron_variant | MODIFIER | NA18941.hp1 NA18951.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0169 a0001c0001t0004g0127 |
2 | 432 | 0.0046 | 17 | c.152 others(34): Show |
PDZD7 | ENSG00000186862.20 | transcript | ENST00000619208.6 | protein_coding | 9/16 | chr10 | TogoVar |