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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
OMA1_chr1_58475719_58551726 | 58518196 | A | AGGAGAGG others(42): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 356 | 0.0028 | 49 | c.121 others(68): Show |
OMA1 | ENSG00000162600.12 | transcript | ENST00000371226.8 | protein_coding | 7/8 | chr1 | TogoVar | |||||||
OOSP1_chr11_59933432_59962480 | 59943930 | A | ACCCCCCC others(42): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 384 | 0.0026 | 49 | c.258 others(64): Show |
OOSP1 | ENSG00000284873.1 | transcript | ENST00000646685.1 | protein_coding | 2/4 | chr11 | TogoVar | |||||||
OPCML_chr11_132409981_133537501 | 132638163 | C | CTATATAT others(42): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0036 | 1 | 8 | 0.1250 | 49 | c.379 others(68): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 3/7 | chr11 | TogoVar | |||||||
OPRL1_chr20_64075082_64105633 | 64104778 | C | CAGGGGAG others(42): Show |
downstream_gene_variant | MODIFIER | HG01167.hp1 HG02559.hp1 HG02895.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0007 | a0001c0001t0009a0001c0001t0013a0001c0003t0004others(1): Show | a0001c0001t0009g0010 a0001c0001t0009g0011 a0001c0001t0013g0053 others(2): Show |
5 | 62 | 0.0806 | 49 | c.*59 others(60): Show |
OPRL1 | ENSG00000125510.18 | transcript | ENST00000336866.7 | protein_coding | 4146 | chr20 | TogoVar | |||||||
OPTC_chr1_203489153_203513949 | 203500074 | T | TCTACCAC others(42): Show |
intron_variant | MODIFIER | NA18977.hp1 NA19070.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 2 | 403 | 0.0050 | 49 | c.732 others(64): Show |
OPTC | ENSG00000188770.10 | transcript | ENST00000367222.7 | protein_coding | 5/7 | chr1 | TogoVar | |||||||
OR10H5_chr19_15782661_15805357 | 15801375 | A | ATATATAT others(42): Show |
downstream_gene_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0002 | a0001c0002t0097 | a0001c0002t0097g0013 | 1 | 18 | 0.0556 | 49 | c.*63 others(60): Show |
OR10H5 | ENSG00000172519.10 | transcript | ENST00000642092.2 | protein_coding | 1019 | chr19 | TogoVar | |||||||
OR13D1_chr9_104689518_104700462 | 104696107 | A | AGAAAGAA others(42): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 NA18993.hp1 NA19002.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 4 | 53 | 0.0755 | 49 | c.*64 others(58): Show |
OR13D1 | ENSG00000179055.8 | transcript | ENST00000641530.1 | protein_coding | 646 | chr9 | TogoVar | |||||||
OR13D1_chr9_104689518_104700462 | 104696151 | G | GAAAGAAA others(42): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 HG02622.hp1 HG02965.hp1 others(1): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0001 | a0001c0001t0001g0000 a0004c0005t0001g0000 |
4 | 363 | 0.0110 | 49 | c.*68 others(58): Show |
OR13D1 | ENSG00000179055.8 | transcript | ENST00000641530.1 | protein_coding | 690 | chr9 | TogoVar | |||||||
OR1E1_chr17_3392104_3403410 | 3399258 | G | GAAGGAAG others(42): Show |
upstream_gene_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0000 | 1 | 303 | 0.0033 | 49 | c.-84 others(58): Show |
OR1E1 | ENSG00000180016.2 | transcript | ENST00000322608.2 | protein_coding | 849 | chr17 | TogoVar | |||||||
OR1S1_chr11_58207720_58221084 | 58220105 | T | TACAATGG others(42): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0005 | 2 | 369 | 0.0054 | 49 | c.*43 others(60): Show |
OR1S1 | ENSG00000280204.4 | transcript | ENST00000641544.1 | protein_coding | 4022 | chr11 | TogoVar | |||||||
OR2T2_chr1_248440637_248460725 | 248453783 | C | CAGAGTAT others(42): Show |
3_prime_UTR_variant | MODIFIER | HG01109.hp2 HG01891.hp1 HG02055.hp1 others(6): Show |
a0003a0005 | a0003c0004a0005c0010 | a0003c0004t0007a0003c0004t0018a0005c0010t0041 | a0003c0004t0007g0021 a0003c0004t0007g0098 a0003c0004t0007g0099 others(4): Show |
9 | 328 | 0.0274 | 49 | c.*12 others(56): Show |
OR2T2 | ENSG00000196240.6 | transcript | ENST00000641925.2 | protein_coding | 4/4 | 13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
OR4A5_chr11_54701832_54712902 | 54704720 | T | TTTTCTTT others(42): Show |
upstream_gene_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 233 | 0.0043 | 49 | c.-21 others(60): Show |
OR4A5 | ENSG00000221840.4 | transcript | ENST00000319760.8 | protein_coding | 2111 | chr11 | TogoVar | |||||||
OR4M1_chr14_19768504_19788696 | 19787251 | C | CCTTCCTT others(42): Show |
downstream_gene_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 | 1 | 117 | 0.0085 | 49 | c.*59 others(60): Show |
OR4M1 | ENSG00000176299.5 | transcript | ENST00000641200.1 | protein_coding | 3556 | chr14 | TogoVar | |||||||
OR5AC2_chr3_98082173_98093102 | 98092727 | T | TAGATTCA others(42): Show |
downstream_gene_variant | MODIFIER | HG02738.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 1 | 460 | 0.0022 | 49 | c.*46 others(60): Show |
OR5AC2 | ENSG00000196578.4 | transcript | ENST00000358642.2 | protein_coding | 4626 | chr3 | TogoVar | |||||||
OR5H14_chr3_98142479_98161614 | 98160561 | T | TCTACATG others(42): Show |
downstream_gene_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0001 | 1 | 428 | 0.0023 | 49 | c.*10 others(62): Show |
OR5H14 | ENSG00000236032.3 | transcript | ENST00000641380.1 | protein_coding | 3948 | chr3 | TogoVar | |||||||
OR6J1_chr14_22625929_22649352 | 22632311 | T | TAATCCCA others(42): Show |
3_prime_UTR_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0182 | 1 | 360 | 0.0028 | 49 | c.*14 others(60): Show |
OR6J1 | ENSG00000255804.2 | transcript | ENST00000540461.2 | protein_coding | 2/2 | 1456 | chr14 | TogoVar | ||||||
OR6J1_chr14_22625929_22649352 | 22636225 | G | GCCCTCTC others(42): Show |
intron_variant | MODIFIER | NA19067.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 301 | 0.0033 | 49 | c.-27 others(66): Show |
OR6J1 | ENSG00000255804.2 | transcript | ENST00000540461.2 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
OR6J1_chr14_22625929_22649352 | 22636401 | C | CCTCTCCC others(42): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 182 | 0.0055 | 49 | c.-27 others(66): Show |
OR6J1 | ENSG00000255804.2 | transcript | ENST00000540461.2 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
OR6Q1_chr11_58025953_58036906 | 58034769 | T | TCCTTCCT others(42): Show |
downstream_gene_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 296 | 0.0034 | 49 | c.*28 others(60): Show |
OR6Q1 | ENSG00000279051.5 | transcript | ENST00000302622.4 | protein_coding | 2864 | chr11 | TogoVar | |||||||
OR8B2_chr11_124377394_124389499 | 124384912 | G | GGTACTTA others(42): Show |
upstream_gene_variant | MODIFIER | HG03831.hp2 | a0010 | a0010c0013 | a0010c0013t0001 | a0010c0013t0001g0024 | 1 | 442 | 0.0023 | 49 | c.-55 others(58): Show |
OR8B2 | ENSG00000284680.3 | transcript | ENST00000641451.2 | protein_coding | 414 | chr11 | TogoVar | |||||||
OSBPL3_chr7_24791540_24985178 | 24917401 | C | CATATATA others(42): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0281 | 1 | 71 | 0.0141 | 49 | c.-14 others(70): Show |
OSBPL3 | ENSG00000070882.13 | transcript | ENST00000313367.7 | protein_coding | 1/22 | chr7 | TogoVar | |||||||
OSMR_chr5_38841012_38940641 | 38862254 | T | TACCTCCC others(42): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01167.hp2 HG01169.hp2 others(11): Show |
a0001a0004a0005 | a0001c0001a0004c0004a0005c0005 | a0001c0001t0006a0001c0001t0016a0001c0001t0017others(5): Show | a0001c0001t0006g0013 a0001c0001t0006g0165 a0001c0001t0006g0192 others(10): Show |
14 | 344 | 0.0407 | 49 | c.-13 others(66): Show |
OSMR | ENSG00000145623.13 | transcript | ENST00000274276.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
OTOF_chr2_26452203_26483124 | 26476716 | C | CCCTTCCC others(42): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 328 | 0.0030 | 49 | c.435 others(64): Show |
OTOF | ENSG00000115155.19 | transcript | ENST00000339598.8 | protein_coding | 5/28 | chr2 | TogoVar | |||||||
OTUD7A_chr15_31470398_31875673 | 31753704 | A | ATATATAT others(42): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0120 | 1 | 154 | 0.0065 | 49 | c.-99 others(68): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 1/12 | chr15 | TogoVar | |||||||
OXR1_chr8_106265190_106757694 | 106285864 | T | TGAATGTG others(42): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00609.hp2 others(49): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0010others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0017 a0001c0001t0001g0024 a0001c0001t0001g0028 others(49): Show |
52 | 163 | 0.3190 | 49 | c.-13 others(70): Show |
OXR1 | ENSG00000164830.19 | transcript | ENST00000517566.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
OXR1_chr8_106265190_106757694 | 106285905 | T | TCCTTCTG others(42): Show |
intron_variant | MODIFIER | HG02280.hp2 HG03195.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0006g0002 |
3 | 170 | 0.0176 | 49 | c.-13 others(70): Show |
OXR1 | ENSG00000164830.19 | transcript | ENST00000517566.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
P2RX2_chr12_132613776_132627388 | 132618232 | A | AGAAAGAA others(42): Show |
upstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 170 | 0.0059 | 49 | c.-58 others(58): Show |
P2RX2 | ENSG00000187848.15 | transcript | ENST00000643471.2 | protein_coding | 543 | chr12 | TogoVar | |||||||
P2RX7_chr12_121127876_121193032 | 121130818 | A | AAGAAAGA others(42): Show |
upstream_gene_variant | MODIFIER | NA20300.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0213 | 1 | 350 | 0.0029 | 49 | c.-21 others(60): Show |
P2RX7 | ENSG00000089041.17 | transcript | ENST00000328963.10 | protein_coding | 2057 | chr12 | TogoVar | |||||||
P2RX7_chr12_121127876_121193032 | 121130820 | A | AAGAAAGA others(42): Show |
upstream_gene_variant | MODIFIER | HG02976.hp2 HG03486.hp2 |
a0014 | a0014c0012 | a0014c0012t0007a0014c0012t0019 | a0014c0012t0007g0349 a0014c0012t0019g0350 |
2 | 222 | 0.0090 | 49 | c.-21 others(60): Show |
P2RX7 | ENSG00000089041.17 | transcript | ENST00000328963.10 | protein_coding | 2055 | chr12 | TogoVar | |||||||
P2RY8_chrX_1457581_1542185 | 1459873 | A | ATGTATGT others(42): Show |
downstream_gene_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0047 | 1 | 113 | 0.0088 | 49 | c.*56 others(60): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 2707 | chrX | TogoVar | |||||||
P2RY8_chrX_1457581_1542185 | 1490611 | G | GGAATGAA others(42): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 112 | 0.0089 | 49 | c.-24 others(68): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | |||||||
P4HA2_chr5_132185147_132232853 | 132208421 | G | GGGGGAGG others(42): Show |
intron_variant | MODIFIER | NA19089.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212 | 1 | 147 | 0.0068 | 49 | c.904 others(64): Show |
P4HA2 | ENSG00000072682.20 | transcript | ENST00000360568.8 | protein_coding | 7/14 | chr5 | TogoVar | |||||||
PABIR2_chrX_134764566_134802205 | 134773613 | T | TCAAACAA others(42): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG01261.hp1 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0015 others(28): Show |
35 | 215 | 0.1628 | 49 | c.660 others(66): Show |
PABIR2 | ENSG00000156504.17 | transcript | ENST00000343004.10 | protein_coding | 9/9 | chrX | TogoVar | |||||||
PACS2_chr14_105309748_105403147 | 105330150 | C | CGAGAAGC others(42): Show |
intron_variant | MODIFIER | HG03704.hp1 HG04184.hp1 NA18945.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0011a0002c0002t0036 | a0002c0002t0001g0019 a0002c0002t0011g0020 a0002c0002t0011g0021 others(1): Show |
4 | 208 | 0.0192 | 49 | c.119 others(68): Show |
PACS2 | ENSG00000179364.15 | transcript | ENST00000447393.6 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PAK2_chr3_196734857_196837647 | 196811321 | T | TCCTTTCC others(42): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 HG02922.hp2 others(2): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0006 | a0001c0001t0053a0001c0002t0001a0001c0002t0005others(2): Show | a0001c0001t0053g0006 a0001c0002t0001g0003 a0001c0002t0005g0136 others(2): Show |
5 | 66 | 0.0758 | 49 | c.773 others(64): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PALD1_chr10_70473767_70573450 | 70535485 | C | CCTTCCTT others(42): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02280.hp1 HG02486.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006a0001c0001t0007others(1): Show | a0001c0001t0005g0190 a0001c0001t0005g0215 a0001c0001t0006g0126 others(2): Show |
5 | 306 | 0.0163 | 49 | c.122 others(66): Show |
PALD1 | ENSG00000107719.10 | transcript | ENST00000263563.7 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PALM2AKAP2_chr9_109775198_110177512 | 110098153 | A | AAGAGAGG others(42): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01255.hp1 HG02486.hp1 others(3): Show |
a0001a0003a0005 | a0001c0001a0003c0003a0005c0008 | a0001c0001t0006a0001c0001t0011a0003c0003t0001others(1): Show | a0001c0001t0006g0147 a0001c0001t0011g0146 a0003c0003t0001g0001 others(3): Show |
6 | 182 | 0.0330 | 49 | c.583 others(68): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PALM2AKAP2_chr9_109775198_110177512 | 110135164 | A | AAAAAAAT others(42): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 129 | 0.0078 | 49 | c.583 others(64): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PAM_chr5_102750305_103034716 | 102988607 | A | AGGGAGGA others(42): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 175 | 0.0057 | 49 | c.148 others(68): Show |
PAM | ENSG00000145730.21 | transcript | ENST00000438793.8 | protein_coding | 15/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PANK3_chr5_168543495_168584368 | 168565868 | A | AAATATAT others(42): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0273 | 1 | 159 | 0.0063 | 49 | c.635 others(64): Show |
PANK3 | ENSG00000120137.7 | transcript | ENST00000239231.7 | protein_coding | 3/6 | chr5 | TogoVar | |||||||
PANX1_chr11_94123841_94186968 | 94125547 | T | TCACTCTG others(42): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(365): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0002c0008others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0017 others(293): Show |
368 | 406 | 0.9064 | 49 | c.-37 others(60): Show |
PANX1 | ENSG00000110218.9 | transcript | ENST00000227638.8 | protein_coding | 3293 | chr11 | TogoVar | |||||||
PAPPA_chr9_116148791_116407321 | 116264173 | T | TAGAATTA others(42): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0002 | a0002c0006 | a0002c0006t0015 | a0002c0006t0015g0025 | 1 | 232 | 0.0043 | 49 | c.273 others(68): Show |
PAPPA | ENSG00000182752.10 | transcript | ENST00000328252.4 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69300937 | C | CTTTCTTT others(42): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0141 | 1 | 170 | 0.0059 | 49 | c.-27 others(68): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PAQR9_chr3_142949585_142968674 | 142966772 | A | AAATGCCA others(42): Show |
upstream_gene_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 444 | 0.0023 | 49 | c.-34 others(60): Show |
PAQR9 | ENSG00000188582.10 | transcript | ENST00000340634.6 | protein_coding | 3099 | chr3 | TogoVar | |||||||
PARD3B_chr2_204540475_205625162 | 205489551 | T | TATATATA others(42): Show |
intron_variant | MODIFIER | HG03139.hp2 HG03486.hp2 NA19240.hp1 |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0026 | a0001c0001t0001a0002c0002t0001a0004c0026t0004 | a0001c0001t0001g0042 a0002c0002t0001g0027 a0004c0026t0004g0041 |
3 | 23 | 0.1304 | 49 | c.304 others(70): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARD3_chr10_34104561_34820296 | 34640708 | C | CAAAAAAA others(42): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0094 | 1 | 7 | 0.1429 | 49 | c.222 others(68): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 2/24 | chr10 | TogoVar | |||||||
PBDC1_chrX_76168062_76183314 | 76180537 | G | GTTATTTT others(42): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 291 | 0.0034 | 49 | c.*26 others(60): Show |
PBDC1 | ENSG00000102390.11 | transcript | ENST00000373358.8 | protein_coding | 2224 | chrX | TogoVar | |||||||
PBX3_chr9_125742373_125972377 | 125779866 | G | GGGGCGGC others(42): Show |
intron_variant | MODIFIER | HG03471.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0290 a0001c0001t0001g0291 |
2 | 126 | 0.0159 | 49 | c.274 others(68): Show |
PBX3 | ENSG00000167081.18 | transcript | ENST00000373489.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PBX3_chr9_125742373_125972377 | 125779866 | G | GGGGCGGC others(42): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02109.hp2 HG02572.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0011 | a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0286 others(6): Show |
9 | 133 | 0.0677 | 49 | c.274 others(68): Show |
PBX3 | ENSG00000167081.18 | transcript | ENST00000373489.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PBX3_chr9_125742373_125972377 | 125779866 | G | GGGGCGGC others(42): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(153): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0130 a0001c0001t0001g0131 others(150): Show |
156 | 280 | 0.5571 | 49 | c.274 others(68): Show |
PBX3 | ENSG00000167081.18 | transcript | ENST00000373489.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |