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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
OR2AG1_chr11_6778020_6796558 | 6779198 | ATATATAT others(32): Show |
A | upstream_gene_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0003 | 1 | 398 | 0.0025 | -39 | c.-42 others(50): Show |
OR2AG1 | ENSG00000279486.6 | transcript | ENST00000641258.1 | protein_coding | 3821 | chr11 | TogoVar | |||||||
OR2AG1_chr11_6778020_6796558 | 6779200 | ATATATAT others(32): Show |
A | upstream_gene_variant | MODIFIER | HG02040.hp1 HG02074.hp1 NA18948.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0092 | a0001c0001t0001g0003 a0001c0001t0009g0003 a0001c0001t0092g0003 |
6 | 412 | 0.0146 | -39 | c.-42 others(50): Show |
OR2AG1 | ENSG00000279486.6 | transcript | ENST00000641258.1 | protein_coding | 3819 | chr11 | TogoVar | |||||||
OR6X1_chr11_123748580_123759518 | 123758965 | CAAGGGGT others(32): Show |
C | upstream_gene_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 436 | 0.0023 | -39 | c.-44 others(50): Show |
OR6X1 | ENSG00000221931.3 | transcript | ENST00000327930.3 | protein_coding | 4448 | chr11 | TogoVar | |||||||
OR7A10_chr19_14835466_14853922 | 14849363 | TTTCTTCT others(32): Show |
T | upstream_gene_variant | MODIFIER | HG02896.hp1 NA18906.hp2 NA19087.hp1 others(1): Show |
a0001a0002a0004 | a0001c0001a0002c0004a0004c0006 | a0001c0001t0001a0002c0004t0004a0004c0006t0004 | a0001c0001t0001g0001 a0002c0004t0004g0040 a0004c0006t0004g0222 others(1): Show |
4 | 63 | 0.0635 | -39 | c.-91 others(48): Show |
OR7A10 | ENSG00000127515.3 | transcript | ENST00000641129.1 | protein_coding | 442 | chr19 | TogoVar | |||||||
OR9Q1_chr11_58018881_58186616 | 58037675 | ATATATAT others(32): Show |
A | intron_variant | MODIFIER | HG01943.hp1 HG02071.hp1 NA19079.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0184 a0001c0002t0001g0223 a0001c0002t0001g0245 |
3 | 321 | 0.0093 | -39 | c.-93 others(58): Show |
OR9Q1 | ENSG00000186509.4 | transcript | ENST00000335397.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
OR9Q1_chr11_58018881_58186616 | 58037677 | ATATATAT others(32): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00544.hp2 others(58): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(7): Show | a0001c0001t0001g0181 a0001c0001t0001g0186 a0001c0001t0001g0187 others(58): Show |
61 | 303 | 0.2013 | -39 | c.-93 others(58): Show |
OR9Q1 | ENSG00000186509.4 | transcript | ENST00000335397.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
OR9Q1_chr11_58018881_58186616 | 58037679 | ATATATAT others(32): Show |
A | intron_variant | MODIFIER | HG00621.hp2 HG01361.hp1 HG01433.hp2 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0173 a0001c0002t0001g0177 a0001c0002t0001g0180 others(6): Show |
9 | 301 | 0.0299 | -39 | c.-93 others(58): Show |
OR9Q1 | ENSG00000186509.4 | transcript | ENST00000335397.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ORAI2_chr7_102428575_102461825 | 102437736 | ATGCATTA others(32): Show |
A | intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0002 | a0001c0002t0046 | a0001c0002t0046g0097 | 1 | 402 | 0.0025 | -39 | c.-13 others(56): Show |
ORAI2 | ENSG00000160991.17 | transcript | ENST00000495936.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
OSBPL5_chr11_3082107_3170310 | 3103686 | AGCCCCCT others(32): Show |
A | intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0142 | 1 | 323 | 0.0031 | -39 | c.124 others(56): Show |
OSBPL5 | ENSG00000021762.20 | transcript | ENST00000263650.12 | protein_coding | 10/21 | chr11 | TogoVar | |||||||
OSBPL5_chr11_3082107_3170310 | 3103726 | GCCCCTTC others(32): Show |
G | intron_variant | MODIFIER | HG03098.hp2 NA18522.hp2 |
a0001 | a0001c0005a0001c0018 | a0001c0005t0005a0001c0018t0019 | a0001c0005t0005g0027 a0001c0018t0019g0064 |
2 | 321 | 0.0062 | -39 | c.124 others(56): Show |
OSBPL5 | ENSG00000021762.20 | transcript | ENST00000263650.12 | protein_coding | 10/21 | chr11 | TogoVar | |||||||
OSBPL5_chr11_3082107_3170310 | 3103735 | TGCCTCTG others(32): Show |
T | intron_variant | MODIFIER | HG01261.hp1 HG01346.hp2 HG02055.hp2 others(11): Show |
a0002a0004 | a0002c0003a0004c0011 | a0002c0003t0003a0002c0003t0016a0004c0011t0003 | a0002c0003t0003g0017 a0002c0003t0003g0021 a0002c0003t0003g0024 others(11): Show |
14 | 298 | 0.0470 | -39 | c.124 others(56): Show |
OSBPL5 | ENSG00000021762.20 | transcript | ENST00000263650.12 | protein_coding | 10/21 | chr11 | TogoVar | |||||||
OSTF1_chr9_75083514_75152265 | 75128375 | TATATATA others(32): Show |
T | intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0200 | 1 | 364 | 0.0027 | -39 | c.132 others(54): Show |
OSTF1 | ENSG00000134996.12 | transcript | ENST00000346234.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
OTOP3_chr17_74930898_74954992 | 74948026 | CCAAGCAA others(32): Show |
C | intron_variant | MODIFIER | NA18954.hp1 | a0018 | a0018c0027 | a0018c0027t0001 | a0018c0027t0001g0273 | 1 | 466 | 0.0021 | -39 | c.156 others(56): Show |
OTOP3 | ENSG00000182938.7 | transcript | ENST00000328801.6 | protein_coding | 6/6 | chr17 | TogoVar | |||||||
OTUD7A_chr15_31470398_31875673 | 31610619 | TTTTTTTT others(32): Show |
T | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0068 | a0001c0001t0068g0085 | 1 | 243 | 0.0041 | -39 | c.152 others(58): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 3/12 | chr15 | TogoVar | |||||||
OXNAD1_chr3_16260212_16311087 | 16303584 | AATAAAGA others(32): Show |
A | 3_prime_UTR_variant | MODIFIER | NA19012.hp1 | a0002 | a0002c0002 | a0002c0002t0019 | a0002c0002t0019g0116 | 1 | 382 | 0.0026 | -39 | c.*23 others(46): Show |
OXNAD1 | ENSG00000154814.14 | transcript | ENST00000285083.10 | protein_coding | 9/9 | 23 | chr3 | TogoVar | ||||||
OXR1_chr8_106265190_106757694 | 106579885 | GAGCAAAT others(32): Show |
G | intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 170 | 0.0059 | -39 | c.220 others(58): Show |
OXR1 | ENSG00000164830.19 | transcript | ENST00000517566.7 | protein_coding | 3/16 | chr8 | TogoVar | |||||||
P4HA3_chr11_74261657_74316640 | 74312931 | ATCCAGAG others(32): Show |
A | upstream_gene_variant | MODIFIER | HG00642.hp2 HG01261.hp2 HG02486.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 a0001c0001t0001g0242 a0001c0001t0001g0243 others(2): Show |
7 | 396 | 0.0177 | -39 | c.-13 others(50): Show |
P4HA3 | ENSG00000149380.12 | transcript | ENST00000331597.9 | protein_coding | 1292 | chr11 | TogoVar | |||||||
PACSIN2_chr22_42864773_43020149 | 42981777 | GTGGGTCA others(32): Show |
G | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 292 | 0.0034 | -39 | c.-78 others(58): Show |
PACSIN2 | ENSG00000100266.19 | transcript | ENST00000263246.8 | protein_coding | 1/10 | chr22 | TogoVar | |||||||
PAFAH1B2_chr11_117139287_117176045 | 117172380 | ATATATAT others(32): Show |
A | downstream_gene_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0128 | 1 | 412 | 0.0024 | -39 | c.*46 others(50): Show |
PAFAH1B2 | ENSG00000168092.14 | transcript | ENST00000527958.6 | protein_coding | 1336 | chr11 | TogoVar | |||||||
PAFAH1B2_chr11_117139287_117176045 | 117172382 | ATATATAT others(32): Show |
A | downstream_gene_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0061 | 1 | 422 | 0.0024 | -39 | c.*46 others(50): Show |
PAFAH1B2 | ENSG00000168092.14 | transcript | ENST00000527958.6 | protein_coding | 1338 | chr11 | TogoVar | |||||||
PALM2AKAP2_chr9_109775198_110177512 | 109776449 | CGTCCAAA others(32): Show |
C | upstream_gene_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0215 | 1 | 220 | 0.0045 | -39 | c.-40 others(50): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 3748 | chr9 | TogoVar | |||||||
PALM2AKAP2_chr9_109775198_110177512 | 110167844 | AAGAGACT others(32): Show |
A | intron_variant | MODIFIER | NA19010.hp1 | a0002 | a0002c0002 | a0002c0002t0019 | a0002c0002t0019g0015 | 1 | 220 | 0.0045 | -39 | c.321 others(56): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PALMD_chr1_99641113_99699535 | 99683111 | AAAGAAAG others(32): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG03471.hp2 HG03486.hp2 others(2): Show |
a0001a0005a0009others(1): Show | a0001c0002a0005c0009a0009c0010others(1): Show | a0001c0002t0002a0005c0009t0001a0009c0010t0002others(1): Show | a0001c0002t0002g0254 a0001c0002t0002g0334 a0005c0009t0001g0029 others(2): Show |
5 | 377 | 0.0133 | -39 | c.252 others(56): Show |
PALMD | ENSG00000099260.12 | transcript | ENST00000263174.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PAN3_chr13_28133545_28300335 | 28257721 | ATATATAT others(32): Show |
A | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0227 | 1 | 249 | 0.0040 | -39 | c.124 others(58): Show |
PAN3 | ENSG00000152520.14 | transcript | ENST00000380958.8 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PANK4_chr1_2503537_2531596 | 2531124 | CGCAGCTC others(32): Show |
C | upstream_gene_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0067 | 1 | 398 | 0.0025 | -39 | c.-45 others(50): Show |
PANK4 | ENSG00000157881.16 | transcript | ENST00000378466.9 | protein_coding | 4529 | chr1 | TogoVar | |||||||
PAPPA_chr9_116148791_116407321 | 116289197 | CATATATA others(32): Show |
C | intron_variant | MODIFIER | NA19009.hp1 | a0002 | a0002c0004 | a0002c0004t0044 | a0002c0004t0044g0085 | 1 | 228 | 0.0044 | -39 | c.295 others(60): Show |
PAPPA | ENSG00000182752.10 | transcript | ENST00000328252.4 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69300633 | CTTTCTTT others(32): Show |
C | intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0276 | 1 | 280 | 0.0036 | -39 | c.-27 others(58): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69322691 | GGAAGAAG others(32): Show |
G | intron_variant | MODIFIER | HG01255.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0133 | 1 | 216 | 0.0046 | -39 | c.-27 others(60): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PARL_chr3_183824271_183889880 | 183882219 | AAAAATAT others(32): Show |
A | intron_variant | MODIFIER | HG02559.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0013 | 1 | 333 | 0.0030 | -39 | c.125 others(56): Show |
PARL | ENSG00000175193.14 | transcript | ENST00000317096.9 | protein_coding | 1/9 | chr3 | TogoVar | |||||||
PARP12_chr7_140018749_140067951 | 140035890 | AGAGGAGG others(32): Show |
A | intron_variant | MODIFIER | HG02486.hp2 | a0007 | a0007c0015 | a0007c0015t0009 | a0007c0015t0009g0188 | 1 | 358 | 0.0028 | -39 | c.132 others(58): Show |
PARP12 | ENSG00000059378.13 | transcript | ENST00000263549.8 | protein_coding | 7/11 | chr7 | TogoVar | |||||||
PARP12_chr7_140018749_140067951 | 140035990 | GAGGAGGA others(32): Show |
G | intron_variant | MODIFIER | HG02809.hp2 | a0003 | a0003c0007 | a0003c0007t0003 | a0003c0007t0003g0183 | 1 | 353 | 0.0028 | -39 | c.132 others(58): Show |
PARP12 | ENSG00000059378.13 | transcript | ENST00000263549.8 | protein_coding | 7/11 | chr7 | TogoVar | |||||||
PARP12_chr7_140018749_140067951 | 140035999 | GAGAAGGA others(32): Show |
G | intron_variant | MODIFIER | HG02965.hp2 | a0003 | a0003c0005 | a0003c0005t0004 | a0003c0005t0004g0273 | 1 | 351 | 0.0028 | -39 | c.132 others(58): Show |
PARP12 | ENSG00000059378.13 | transcript | ENST00000263549.8 | protein_coding | 7/11 | chr7 | TogoVar | |||||||
PARVB_chr22_44019302_44177939 | 44115167 | TGTACCAA others(32): Show |
T | intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 330 | 0.0030 | -39 | c.274 others(56): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 3/12 | chr22 | TogoVar | |||||||
PAWR_chr12_79579879_79695964 | 79613949 | ATATATAT others(32): Show |
A | intron_variant | MODIFIER | NA18952.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0217 | 1 | 251 | 0.0040 | -39 | c.649 others(54): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 3/6 | chr12 | TogoVar | |||||||
PAWR_chr12_79579879_79695964 | 79613951 | ATATATAT others(32): Show |
A | intron_variant | MODIFIER | NA18987.hp1 NA18992.hp1 NA19056.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0106 a0001c0001t0002g0115 a0002c0002t0001g0197 |
3 | 240 | 0.0125 | -39 | c.649 others(54): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 3/6 | chr12 | TogoVar | |||||||
PAWR_chr12_79579879_79695964 | 79613953 | ATATATAT others(32): Show |
A | intron_variant | MODIFIER | HG01261.hp1 HG02027.hp2 HG03195.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0005 | a0002c0002t0001g0190 a0002c0002t0005g0248 a0002c0002t0005g0251 |
3 | 244 | 0.0123 | -39 | c.649 others(54): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 3/6 | chr12 | TogoVar | |||||||
PAWR_chr12_79579879_79695964 | 79613955 | ATATATAT others(32): Show |
A | intron_variant | MODIFIER | HG02572.hp1 HG02630.hp2 HG02717.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0032a0002c0002t0001a0002c0002t0005others(1): Show | a0001c0001t0032g0007 a0002c0002t0001g0169 a0002c0002t0001g0192 others(9): Show |
12 | 243 | 0.0494 | -39 | c.649 others(54): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 3/6 | chr12 | TogoVar | |||||||
PAWR_chr12_79579879_79695964 | 79613957 | ATATATAT others(32): Show |
A | intron_variant | MODIFIER | HG01192.hp1 HG01884.hp2 HG02258.hp1 others(4): Show |
a0002a0004 | a0002c0002a0004c0006 | a0002c0002t0001a0002c0002t0005a0004c0006t0011 | a0002c0002t0001g0170 a0002c0002t0001g0184 a0002c0002t0005g0182 others(4): Show |
7 | 238 | 0.0294 | -39 | c.649 others(54): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 3/6 | chr12 | TogoVar | |||||||
PAWR_chr12_79579879_79695964 | 79613961 | ATATATAT others(32): Show |
A | intron_variant | MODIFIER | NA19240.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0246 | 1 | 250 | 0.0040 | -39 | c.649 others(54): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 3/6 | chr12 | TogoVar | |||||||
PAXBP1_chr21_32728899_32776755 | 32771875 | AGAGAGAG others(32): Show |
A | upstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 299 | 0.0033 | -39 | c.-24 others(48): Show |
PAXBP1 | ENSG00000159086.15 | transcript | ENST00000331923.9 | protein_coding | 121 | chr21 | TogoVar | |||||||
PCBP3_chr21_45638725_45947450 | 45852425 | CAGCCACC others(32): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02145.hp2 HG02559.hp2 others(9): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0151 a0001c0001t0002g0108 a0001c0001t0003g0099 others(9): Show |
12 | 190 | 0.0632 | -39 | c.10+ others(54): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45852582 | AGCCATGC others(32): Show |
A | intron_variant | MODIFIER | HG02559.hp2 HG03098.hp1 NA18957.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0014 | a0001c0001t0001g0151 a0001c0003t0014g0289 a0001c0003t0014g0290 |
3 | 290 | 0.0103 | -39 | c.10+ others(54): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCDH15_chr10_53797771_54806231 | 54375778 | TATTTGAA others(32): Show |
T | intron_variant | MODIFIER | HG01192.hp1 HG02109.hp1 HG02145.hp1 others(6): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0003c0003others(6): Show | a0001c0001t0014a0002c0002t0004a0003c0003t0009others(6): Show | a0001c0001t0014g0067 a0002c0002t0004g0077 a0003c0003t0009g0016 others(6): Show |
9 | 100 | 0.0900 | -39 | c.318 others(56): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 4/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53816099_54806231 | 54375778 | TATTTGAA others(32): Show |
T | intron_variant | MODIFIER | HG01192.hp1 HG02145.hp2 HG02602.hp1 others(4): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0024others(4): Show | a0001c0001t0001a0002c0002t0002a0003c0024t0001others(4): Show | a0001c0001t0001g0084 a0002c0002t0002g0071 a0003c0024t0001g0016 others(4): Show |
7 | 92 | 0.0761 | -39 | c.318 others(56): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 4/32 | chr10 | TogoVar | |||||||
PCLO_chr7_82749012_83167884 | 83164703 | CTTTACAA others(32): Show |
C | upstream_gene_variant | MODIFIER | HG01257.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0016 | 1 | 186 | 0.0054 | -39 | c.-21 others(50): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 1820 | chr7 | TogoVar | |||||||
PCNT_chr21_46319156_46450769 | 46334557 | GTGGGATG others(32): Show |
G | disruptive_inframe_deletion | MODERATE | HG01516.hp2 | a0032 | a0032c0089 | a0032c0089t0001 | a0032c0089t0001g0243 | 1 | 305 | 0.0033 | -39 | c.467 others(46): Show |
p.His others(13): Show |
PCNT | ENSG00000160299.19 | transcript | ENST00000359568.10 | protein_coding | 3/47 | 540/10526 | 467/10011 | 156/3336 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||
PDCD10_chr3_167678298_167739892 | 167687716 | TATCAGCT others(32): Show |
T | intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0148 | 1 | 282 | 0.0035 | -39 | c.396 others(52): Show |
PDCD10 | ENSG00000114209.15 | transcript | ENST00000392750.7 | protein_coding | 6/8 | chr3 | TogoVar | |||||||
PDE4A_chr19_10415538_10474630 | 10443249 | GGTGGCTC others(32): Show |
G | intron_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0187 | 1 | 320 | 0.0031 | -39 | c.321 others(56): Show |
PDE4A | ENSG00000065989.16 | transcript | ENST00000380702.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PDE4DIP_chr1_148839428_149038016 | 148866591 | AGGAAGGA others(32): Show |
A | intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0013 | a0001c0013t0009 | a0001c0013t0009g0022 | 1 | 22 | 0.0455 | -39 | c.77- others(54): Show |
PDE4DIP | ENSG00000178104.22 | transcript | ENST00000695795.1 | protein_coding | 2/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PDE6B_chr4_620573_675782 | 622809 | GTCACAGG others(32): Show |
G | upstream_gene_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0022 | a0001c0022t0002 | a0001c0022t0002g0150 | 1 | 306 | 0.0033 | -39 | c.-28 others(50): Show |
PDE6B | ENSG00000133256.13 | transcript | ENST00000496514.6 | protein_coding | 2763 | chr4 | TogoVar |