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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PDGFD_chr11_103902189_104169147 | 104119514 | T | TGATATAA | intron_variant | MODIFIER | HG01891.hp2 HG02109.hp2 HG02145.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0002g0109a0001c0001t0003g0112a0001c0002t0001g0106others(3): Show | 6 | 200 | 0.0300 | 7 | c.124 others(26): Show |
PDGFD | ENSG00000170962.13 | transcript | ENST00000393158.7 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
PDGFD_chr11_103902189_104169147 | 104130000 | G | GAAAAAAA | intron_variant | MODIFIER | HG01891.hp2 HG02109.hp2 HG02145.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0002g0109a0001c0001t0003g0112a0001c0002t0001g0106others(3): Show | 6 | 200 | 0.0300 | 7 | c.124 others(26): Show |
PDGFD | ENSG00000170962.13 | transcript | ENST00000393158.7 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
PDGFD_chr11_103902189_104169147 | 104144536 | A | AAAAACCC | intron_variant | MODIFIER | HG02145.hp2 HG06807.hp2 NA19030.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0005 | a0001c0001t0003g0112a0001c0002t0005g0108a0001c0002t0005g0188 | 3 | 200 | 0.0150 | 7 | c.124 others(26): Show |
PDGFD | ENSG00000170962.13 | transcript | ENST00000393158.7 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
PDGFRB_chr5_150108839_150160845 | 150127833 | T | TAAAAAAA | intron_variant | MODIFIER | HG02293.hp2 HG02630.hp1 HG03831.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0011a0001c0002t0003a0001c0002t0004others(4): Show | a0001c0001t0011g0343a0001c0002t0003g0302a0001c0002t0004g0357others(4): Show | 7 | 418 | 0.0168 | 7 | c.158 others(26): Show |
PDGFRB | ENSG00000113721.14 | transcript | ENST00000261799.9 | protein_coding | 10/22 | chr5 | TogoVar | ||||||
PDGFRL_chr8_17572216_17648144 | 17590236 | C | CAAAAAAA | intron_variant | MODIFIER | HG01109.hp1 HG02257.hp1 HG02809.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0222a0001c0001t0001g0224a0001c0001t0001g0254others(3): Show | 6 | 400 | 0.0150 | 7 | c.353 others(22): Show |
PDGFRL | ENSG00000104213.13 | transcript | ENST00000251630.11 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PDGFRL_chr8_17572216_17648144 | 17590888 | A | ATTTTTTT | intron_variant | MODIFIER | HG02109.hp1 HG02559.hp2 HG02622.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(2): Show | a0001c0001t0001g0222a0001c0001t0001g0223a0001c0001t0001g0224others(9): Show | 12 | 400 | 0.0300 | 7 | c.353 others(24): Show |
PDGFRL | ENSG00000104213.13 | transcript | ENST00000251630.11 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PDHA1_chrX_19338927_19366718 | 19364893 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG01070.hp2 HG01081.hp2 HG01123.hp2 others(19): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0002a0001c0002t0003a0001c0002t0004others(4): Show | a0001c0002t0002g0018a0001c0002t0003g0007a0001c0002t0003g0019others(13): Show | 22 | 247 | 0.0891 | 7 | c.*52 others(18): Show |
PDHA1 | ENSG00000131828.14 | transcript | ENST00000422285.7 | protein_coding | 3176 | chrX | TogoVar | ||||||
PDIA5_chr3_123062025_123167104 | 123101906 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(172): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(9): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(167): Show | 175 | 332 | 0.5271 | 7 | c.258 others(22): Show |
PDIA5 | ENSG00000065485.20 | transcript | ENST00000316218.12 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PDIA6_chr2_10778391_10817785 | 10788065 | C | CAAAAAAA | intron_variant | MODIFIER | HG00280.hp1 HG00642.hp2 HG00735.hp1 others(94): Show |
a0001a0002a0004others(1): Show | a0001c0003a0001c0005a0002c0002others(5): Show | a0001c0003t0001a0001c0005t0003a0002c0002t0001others(7): Show | a0001c0003t0001g0204a0001c0003t0001g0229a0001c0005t0003g0011others(91): Show | 97 | 342 | 0.2836 | 7 | c.998 others(22): Show |
PDIA6 | ENSG00000143870.13 | transcript | ENST00000272227.8 | protein_coding | 10/12 | chr2 | TogoVar | ||||||
PDIA6_chr2_10778391_10817785 | 10809645 | C | CAAAAAAA | intron_variant | MODIFIER | HG01978.hp2 HG02257.hp1 HG02572.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0028a0001c0001t0005g0012a0001c0001t0005g0027others(3): Show | 7 | 342 | 0.0205 | 7 | c.19+ others(22): Show |
PDIA6 | ENSG00000143870.13 | transcript | ENST00000272227.8 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
PDILT_chr16_20354175_20409737 | 20361205 | T | TTTTTTTG | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(84): Show |
a0001a0002a0003others(6): Show | a0001c0007a0002c0004a0003c0002others(6): Show | a0001c0007t0001a0002c0004t0001a0003c0002t0001others(6): Show | a0001c0007t0001g0003a0001c0007t0001g0004a0001c0007t0001g0025others(81): Show | 87 | 406 | 0.2143 | 7 | c.141 others(24): Show |
PDILT | ENSG00000169340.10 | transcript | ENST00000302451.9 | protein_coding | 10/11 | chr16 | TogoVar | ||||||
PDK1_chr2_172551090_172613669 | 172605368 | A | ATTTTTTT | 3_prime_UTR_variant | MODIFIER | HG00280.hp2 HG00738.hp2 HG00741.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0095a0001c0001t0101a0001c0002t0012others(5): Show | a0001c0001t0095g0060a0001c0001t0101g0274a0001c0002t0012g0036others(15): Show | 18 | 342 | 0.0526 | 7 | c.*94 others(18): Show |
PDK1 | ENSG00000152256.14 | transcript | ENST00000282077.8 | protein_coding | 11/11 | 9424 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
PDK3_chrX_24460286_24539422 | 24498609 | G | GAGGACTT | intron_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 258 | 0.0039 | 7 | c.249 others(22): Show |
PDK3 | ENSG00000067992.17 | transcript | ENST00000379162.9 | protein_coding | 2/10 | chrX | TogoVar | ||||||
PDK4_chr7_95578499_95601516 | 95586194 | G | GTTTTTTT | intron_variant | MODIFIER | HG00639.hp1 HG02145.hp2 HG02258.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0014a0001c0001t0033others(1): Show | a0001c0001t0005g0044a0001c0001t0005g0112a0001c0001t0014g0127others(2): Show | 6 | 384 | 0.0156 | 7 | c.109 others(24): Show |
PDK4 | ENSG00000004799.8 | transcript | ENST00000005178.6 | protein_coding | 10/10 | chr7 | TogoVar | ||||||
PDLIM2_chr8_22575475_22599298 | 22599209 | C | CCTCCCCT | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(91): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0008others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(9): Show | a0001c0001t0001g0038a0001c0001t0001g0071a0001c0001t0001g0159others(74): Show | 94 | 380 | 0.2474 | 7 | c.*52 others(18): Show |
PDLIM2 | ENSG00000120913.24 | transcript | ENST00000409417.6 | protein_coding | 4912 | chr8 | TogoVar | ||||||
PDLIM3_chr4_185495660_185540507 | 185497978 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00621.hp2 HG00639.hp1 HG00738.hp2 others(21): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0001c0001t0007a0004c0006t0001 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0010others(16): Show | 24 | 412 | 0.0583 | 7 | c.*43 others(18): Show |
PDLIM3 | ENSG00000154553.17 | transcript | ENST00000284767.12 | protein_coding | 2681 | chr4 | TogoVar | ||||||
PDLIM3_chr4_185495660_185540507 | 185522045 | A | ATTACATT | intron_variant | MODIFIER | HG01081.hp1 HG02109.hp1 HG02572.hp1 others(2): Show |
a0002a0005 | a0002c0003a0005c0009 | a0002c0003t0002a0005c0009t0002 | a0002c0003t0002g0018a0002c0003t0002g0056a0002c0003t0002g0102others(1): Show | 5 | 412 | 0.0121 | 7 | c.330 others(24): Show |
PDLIM3 | ENSG00000154553.17 | transcript | ENST00000284767.12 | protein_coding | 3/7 | chr4 | TogoVar | ||||||
PDLIM5_chr4_94446942_94673223 | 94449503 | C | CTAAATTT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(136): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0006others(9): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(41): Show | a0001c0001t0002g0008a0001c0001t0002g0009a0001c0001t0002g0011others(136): Show | 139 | 218 | 0.6376 | 7 | c.-25 others(18): Show |
PDLIM5 | ENSG00000163110.15 | transcript | ENST00000317968.9 | protein_coding | 2438 | chr4 | TogoVar | ||||||
PDLIM7_chr5_177478394_177502604 | 177480969 | T | TATATATA | downstream_gene_variant | MODIFIER | HG02258.hp1 HG02895.hp1 HG03041.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048a0001c0001t0001g0246a0001c0001t0001g0297 | 4 | 440 | 0.0091 | 7 | c.*26 others(18): Show |
PDLIM7 | ENSG00000196923.14 | transcript | ENST00000355841.7 | protein_coding | 2424 | chr5 | TogoVar | ||||||
PDP1_chr8_93911923_93931068 | 93917590 | G | GGGCTGGC | intron_variant | MODIFIER | NA18972.hp1 NA18982.hp1 NA18989.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0019 | a0001c0001t0001g0008a0001c0001t0019g0008 | 6 | 390 | 0.0154 | 7 | c.-45 others(22): Show |
PDP1 | ENSG00000164951.16 | transcript | ENST00000297598.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PDPK1_chr16_2533021_2608188 | 2584741 | A | ACCACGCC | intron_variant | MODIFIER | HG01243.hp1 HG02145.hp2 HG02280.hp1 others(10): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0035a0001c0003t0007 | a0001c0001t0003g0003a0001c0001t0003g0170a0001c0001t0003g0171others(8): Show | 13 | 184 | 0.0707 | 7 | c.112 others(26): Show |
PDPK1 | ENSG00000140992.19 | transcript | ENST00000342085.9 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PDRG1_chr20_31939337_31957046 | 31948612 | C | CACAGATG | intron_variant | MODIFIER | HG00140.hp2 HG01074.hp1 HG01192.hp1 others(43): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0014a0001c0001t0019others(2): Show | a0001c0001t0002g0002a0001c0001t0002g0012a0001c0001t0002g0029others(9): Show | 46 | 344 | 0.1337 | 7 | c.238 others(22): Show |
PDRG1 | ENSG00000088356.6 | transcript | ENST00000202017.6 | protein_coding | 3/4 | chr20 | TogoVar | ||||||
PDS5A_chr4_39817863_39982911 | 39831875 | C | CAAAAAAA | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG02027.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0002a0001c0002t0002a0001c0002t0003others(1): Show | a0001c0001t0002g0274a0001c0002t0002g0217a0001c0002t0002g0220others(6): Show | 9 | 356 | 0.0253 | 7 | c.401 others(26): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 32/32 | chr4 | TogoVar | ||||||
PDS5A_chr4_39817863_39982911 | 39949821 | G | GAAAAAAA | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp1 HG00673.hp2 others(40): Show |
a0001 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(5): Show | a0001c0001t0001g0001a0001c0001t0004g0324a0001c0001t0006g0232others(40): Show | 43 | 356 | 0.1208 | 7 | c.139 others(26): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 2/32 | chr4 | TogoVar | ||||||
PDS5B_chr13_32581452_32783019 | 32645992 | G | GGGTGTGT | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00544.hp2 others(94): Show |
a0001a0005a0006others(2): Show | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0012a0001c0001t0022a0001c0002t0003others(20): Show | a0001c0001t0012g0286a0001c0001t0012g0287a0001c0001t0012g0288others(93): Show | 97 | 334 | 0.2904 | 7 | c.-19 others(24): Show |
PDS5B | ENSG00000083642.19 | transcript | ENST00000315596.15 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PDS5B_chr13_32581452_32783019 | 32655375 | T | TATATATA | intron_variant | MODIFIER | HG02717.hp2 HG03225.hp1 NA19240.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0287a0001c0001t0012g0288a0001c0001t0012g0289others(1): Show | 4 | 334 | 0.0120 | 7 | c.313 others(24): Show |
PDS5B | ENSG00000083642.19 | transcript | ENST00000315596.15 | protein_coding | 3/34 | chr13 | TogoVar | ||||||
PDS5B_chr13_32581452_32783019 | 32692414 | C | CTTTTTTT | intron_variant | MODIFIER | HG01255.hp2 HG01361.hp2 HG01433.hp1 others(17): Show |
a0001a0006 | a0001c0002a0006c0012 | a0001c0002t0003a0001c0002t0005a0001c0002t0007others(3): Show | a0001c0002t0003g0108a0001c0002t0003g0232a0001c0002t0003g0242others(17): Show | 20 | 334 | 0.0599 | 7 | c.147 others(26): Show |
PDS5B | ENSG00000083642.19 | transcript | ENST00000315596.15 | protein_coding | 13/34 | chr13 | TogoVar | ||||||
PDS5B_chr13_32581452_32783019 | 32775097 | C | CTTTTTTT | 3_prime_UTR_variant | MODIFIER | HG00738.hp1 HG01891.hp2 HG02055.hp2 others(39): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0003c0008others(1): Show | a0001c0001t0004a0001c0001t0008a0001c0001t0018others(8): Show | a0001c0001t0004g0014a0001c0001t0004g0020a0001c0001t0004g0034others(39): Show | 42 | 334 | 0.1258 | 7 | c.*54 others(14): Show |
PDS5B | ENSG00000083642.19 | transcript | ENST00000315596.15 | protein_coding | 35/35 | 61 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||
PDSS2_chr6_107147562_107464564 | 107252859 | G | GTTTGAGA | intron_variant | MODIFIER | HG00140.hp2 HG00738.hp2 HG00741.hp2 others(40): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0059a0001c0001t0001g0064a0001c0001t0001g0073others(40): Show | 43 | 260 | 0.1654 | 7 | c.631 others(24): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 3/7 | chr6 | TogoVar | ||||||
PDSS2_chr6_107147562_107464564 | 107286136 | T | TAAATAAA | intron_variant | MODIFIER | HG00140.hp2 HG00738.hp2 HG00741.hp2 others(31): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0059a0001c0001t0001g0098a0001c0001t0001g0109others(31): Show | 34 | 260 | 0.1308 | 7 | c.432 others(26): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
PDXDC1_chr16_14970026_15043332 | 14984496 | T | TATATATA | intron_variant | MODIFIER | HG02027.hp1 HG02040.hp2 NA18975.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0197a0001c0001t0002g0198a0001c0001t0002g0212others(5): Show | 8 | 279 | 0.0287 | 7 | c.21+ others(22): Show |
PDXDC1 | ENSG00000179889.20 | transcript | ENST00000396410.9 | protein_coding | 1/22 | chr16 | TogoVar | ||||||
PDXDC1_chr16_14970026_15043332 | 15005317 | A | AAAAAAAG | intron_variant | MODIFIER | HG00280.hp1 HG02165.hp2 HG02897.hp1 others(10): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0002c0004others(1): Show | a0001c0001t0003a0001c0001t0004a0002c0002t0008others(2): Show | a0001c0001t0003g0111a0001c0001t0003g0112a0001c0001t0004g0242others(10): Show | 13 | 279 | 0.0466 | 7 | c.389 others(22): Show |
PDXDC1 | ENSG00000179889.20 | transcript | ENST00000396410.9 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PDXDC1_chr16_14970026_15043332 | 15038354 | A | AAAAGTTG | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00544.hp1 others(93): Show |
a0001a0002a0006others(3): Show | a0001c0011a0001c0017a0002c0002others(6): Show | a0001c0011t0018a0001c0017t0015a0002c0002t0001others(12): Show | a0001c0011t0018g0106a0001c0017t0015g0185a0002c0002t0001g0001others(92): Show | 96 | 279 | 0.3441 | 7 | c.*20 others(18): Show |
PDXDC1 | ENSG00000179889.20 | transcript | ENST00000396410.9 | protein_coding | 23 | chr16 | TogoVar | ||||||
PDXK_chr21_43714129_43767299 | 43714402 | A | ATTTTTTT | upstream_gene_variant | MODIFIER | HG00621.hp2 NA18944.hp2 NA18951.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0021others(2): Show | a0001c0001t0001g0290a0001c0001t0002g0148a0001c0001t0002g0163others(3): Show | 6 | 358 | 0.0168 | 7 | c.-48 others(18): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 4726 | chr21 | TogoVar | ||||||
PDZD11_chrX_70281595_70294927 | 70283295 | G | GGCCAGGA | downstream_gene_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 310 | 0.0032 | 7 | c.*37 others(18): Show |
PDZD11 | ENSG00000120509.12 | transcript | ENST00000239666.9 | protein_coding | 3299 | chrX | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 31694792 | T | TTATTTTA | intron_variant | MODIFIER | HG01884.hp2 HG02572.hp2 NA18906.hp1 others(1): Show |
a0002a0005a0010others(1): Show | a0002c0002a0005c0045a0010c0039others(1): Show | a0002c0002t0008a0005c0045t0038a0010c0039t0030others(1): Show | a0002c0002t0008g0175a0005c0045t0038g0176a0010c0039t0030g0216others(1): Show | 4 | 216 | 0.0185 | 7 | c.-36 others(28): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 1/24 | chr5 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 31752068 | G | GTTTTTTT | intron_variant | MODIFIER | HG01255.hp1 HG01358.hp2 HG01496.hp1 others(9): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(6): Show | a0001c0001t0001g0066a0001c0001t0001g0086a0001c0001t0001g0096others(9): Show | 12 | 216 | 0.0556 | 7 | c.-36 others(28): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 1/24 | chr5 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 31763870 | T | TTAAAAAA | intron_variant | MODIFIER | HG02055.hp1 HG02886.hp1 HG03195.hp2 others(2): Show |
a0002a0004a0033 | a0002c0002a0004c0006a0033c0042 | a0002c0002t0001a0004c0006t0007a0004c0006t0010others(1): Show | a0002c0002t0001g0111a0004c0006t0007g0201a0004c0006t0010g0173others(2): Show | 5 | 216 | 0.0232 | 7 | c.-36 others(28): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 1/24 | chr5 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 31767027 | C | CTTTTTTT | intron_variant | MODIFIER | HG00438.hp2 HG00621.hp1 HG01069.hp1 others(36): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0007a0001c0010others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0107a0001c0001t0001g0130a0001c0001t0001g0134others(36): Show | 39 | 216 | 0.1806 | 7 | c.-36 others(28): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDZD2_chr5_31634131_32115932 | 31833646 | A | AAAAAAAG | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00544.hp1 others(140): Show |
a0001a0002a0003others(29): Show | a0001c0001a0001c0005a0001c0007others(51): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(86): Show | a0001c0001t0001g0038a0001c0001t0001g0044a0001c0001t0001g0045others(140): Show | 143 | 216 | 0.6620 | 7 | c.476 others(26): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDZD2_chr5_31634131_32115932 | 31880790 | T | TCTTTTTC | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG01891.hp1 others(7): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0007a0001c0035others(6): Show | a0001c0001t0022a0001c0007t0009a0001c0035t0039others(7): Show | a0001c0001t0022g0170a0001c0007t0009g0058a0001c0035t0039g0209others(7): Show | 10 | 216 | 0.0463 | 7 | c.476 others(26): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDZD2_chr5_31634131_32115932 | 31880792 | T | TTTTTTTC | intron_variant | MODIFIER | HG01099.hp1 HG02896.hp2 HG02897.hp1 others(5): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0002c0003others(3): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0005others(4): Show | a0001c0001t0001g0094a0002c0002t0001g0143a0002c0002t0005g0004others(5): Show | 8 | 216 | 0.0370 | 7 | c.476 others(26): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDZD2_chr5_31634131_32115932 | 31890135 | A | ATTTTTTT | intron_variant | MODIFIER | HG00544.hp1 HG01175.hp2 HG01361.hp1 others(3): Show |
a0001a0003a0016 | a0001c0001a0001c0005a0001c0044others(2): Show | a0001c0001t0035a0001c0001t0037a0001c0005t0001others(3): Show | a0001c0001t0035g0102a0001c0001t0037g0154a0001c0005t0001g0123others(3): Show | 6 | 216 | 0.0278 | 7 | c.476 others(26): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDZD2_chr5_31634131_32115932 | 32054312 | C | CTTTTTTT | intron_variant | MODIFIER | HG01192.hp1 HG02451.hp1 HG02683.hp2 others(4): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0040a0004c0006others(1): Show | a0001c0001t0001a0002c0040t0032a0004c0006t0007others(1): Show | a0001c0001t0001g0044a0002c0040t0032g0105a0004c0006t0007g0179others(4): Show | 7 | 216 | 0.0324 | 7 | c.190 others(24): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 10/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDZD2_chr5_31634131_32115932 | 32077955 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(133): Show |
a0001a0002a0003others(25): Show | a0001c0001a0001c0005a0001c0007others(44): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(76): Show | a0001c0001t0001g0038a0001c0001t0001g0044a0001c0001t0001g0045others(133): Show | 136 | 216 | 0.6296 | 7 | c.368 others(24): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 19/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PDZD4_chrX_153797166_153835544 | 153833988 | A | ATTTTTTT | upstream_gene_variant | MODIFIER | HG01123.hp1 HG01192.hp1 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0197a0001c0001t0002g0022a0001c0001t0002g0159 | 3 | 281 | 0.0107 | 7 | c.-36 others(18): Show |
PDZD4 | ENSG00000067840.13 | transcript | ENST00000393758.7 | protein_coding | 3445 | chrX | TogoVar | ||||||
PDZD7_chr10_101002679_101036129 | 101006371 | T | TCCATCTG | downstream_gene_variant | MODIFIER | HG02109.hp1 HG02896.hp2 HG02897.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006 | a0001c0001t0001g0142a0001c0001t0001g0144a0001c0001t0001g0218others(3): Show | 6 | 432 | 0.0139 | 7 | c.*20 others(18): Show |
PDZD7 | ENSG00000186862.20 | transcript | ENST00000619208.6 | protein_coding | 1307 | chr10 | TogoVar | ||||||
PDZD7_chr10_101002679_101036129 | 101017892 | A | AAAGAAAG | intron_variant | MODIFIER | HG02615.hp2 NA18953.hp2 NA18967.hp1 others(4): Show |
a0001a0002a0010 | a0001c0001a0001c0026a0002c0002others(1): Show | a0001c0001t0002a0001c0026t0001a0002c0002t0001others(3): Show | a0001c0001t0002g0114a0001c0026t0001g0133a0002c0002t0001g0109others(4): Show | 7 | 432 | 0.0162 | 7 | c.152 others(24): Show |
PDZD7 | ENSG00000186862.20 | transcript | ENST00000619208.6 | protein_coding | 9/16 | chr10 | TogoVar | ||||||
PDZD8_chr10_117272274_117380440 | 117276630 | A | AAAAAAAG | downstream_gene_variant | MODIFIER | HG00738.hp2 HG01109.hp1 HG01243.hp1 others(9): Show |
a0001 | a0001c0002 | a0001c0002t0009a0001c0002t0016a0001c0002t0028others(2): Show | a0001c0002t0009g0002a0001c0002t0009g0005a0001c0002t0009g0007others(9): Show | 12 | 322 | 0.0373 | 7 | c.*66 others(18): Show |
PDZD8 | ENSG00000165650.12 | transcript | ENST00000334464.7 | protein_coding | 643 | chr10 | TogoVar | ||||||
PDZD8_chr10_117272274_117380440 | 117333120 | A | AAAAAAAC | intron_variant | MODIFIER | HG02145.hp1 HG02559.hp1 HG02970.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0044a0001c0001t0048others(2): Show | a0001c0001t0018g0177a0001c0001t0018g0178a0001c0001t0018g0179others(5): Show | 8 | 322 | 0.0248 | 7 | c.995 others(24): Show |
PDZD8 | ENSG00000165650.12 | transcript | ENST00000334464.7 | protein_coding | 2/4 | chr10 | TogoVar |