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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PATJ_chr1_61737480_62168915 | 62099347 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0151 | 1 | 158 | 0.0063 | 17 | c.437 others(36): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 33/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PATJ_chr1_61737480_62168915 | 62144771 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG02895.hp2 HG03579.hp1 |
a0007a0024 | a0007c0006a0024c0064 | a0007c0006t0001a0024c0064t0001 | a0007c0006t0001g0044 a0024c0064t0001g0142 |
2 | 158 | 0.0127 | 17 | c.527 others(36): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 41/43 | chr1 | TogoVar | |||||||
PAWR_chr12_79579879_79695964 | 79638897 | T | TATATATA others(10): Show |
intron_variant | MODIFIER | NA18992.hp1 NA19077.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0107 a0001c0001t0002g0111 |
2 | 256 | 0.0078 | 17 | c.517 others(36): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 2/6 | chr12 | TogoVar | |||||||
PAX5_chr9_36828269_37039268 | 37003154 | T | TAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0002 | a0001c0002t0109 | a0001c0002t0109g0137 | 1 | 274 | 0.0037 | 17 | c.476 others(32): Show |
PAX5 | ENSG00000196092.14 | transcript | ENST00000358127.9 | protein_coding | 4/9 | chr9 | TogoVar | |||||||
PAX5_chr9_36828269_37039268 | 37034098 | C | CTTTCTTT others(10): Show |
5_prime_UTR_variant | MODIFIER | HG01175.hp2 HG02055.hp2 |
a0001 | a0001c0001 | a0001c0001t0049a0001c0001t0050 | a0001c0001t0049g0011 a0001c0001t0050g0012 |
2 | 274 | 0.0073 | 17 | c.-68 others(24): Show |
PAX5 | ENSG00000196092.14 | transcript | ENST00000358127.9 | protein_coding | 1/10 | 68 | chr9 | TogoVar | ||||||
PAX6_chr11_31784026_31816322 | 31815010 | C | CTCTCTCT others(10): Show |
upstream_gene_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 376 | 0.0027 | 17 | c.-42 others(28): Show |
PAX6 | ENSG00000007372.25 | transcript | ENST00000640368.2 | protein_coding | 3689 | chr11 | TogoVar | |||||||
PAX7_chr1_18625846_18753866 | 18712134 | C | CTGATGGT others(10): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00438.hp2 others(211): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(70): Show | a0001c0001t0001g0018 a0001c0001t0001g0035 a0001c0001t0001g0061 others(211): Show |
214 | 302 | 0.7086 | 17 | c.115 others(36): Show |
PAX7 | ENSG00000009709.12 | transcript | ENST00000420770.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PBK_chr8_27804624_27842817 | 27816362 | T | TATATATA others(10): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0091 | 1 | 392 | 0.0026 | 17 | c.595 others(34): Show |
PBK | ENSG00000168078.10 | transcript | ENST00000301905.9 | protein_coding | 6/7 | chr8 | TogoVar | |||||||
PBK_chr8_27804624_27842817 | 27816366 | T | TATATATA others(10): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0090 | 1 | 392 | 0.0026 | 17 | c.595 others(34): Show |
PBK | ENSG00000168078.10 | transcript | ENST00000301905.9 | protein_coding | 6/7 | chr8 | TogoVar | |||||||
PBRM1_chr3_52540367_52690913 | 52542619 | C | CAAAAAAA others(10): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00639.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0114 a0001c0001t0002g0009 a0001c0001t0002g0010 others(9): Show |
12 | 300 | 0.0400 | 17 | c.*54 others(28): Show |
PBRM1 | ENSG00000163939.19 | transcript | ENST00000707071.1 | protein_coding | 2747 | chr3 | TogoVar | |||||||
PBRM1_chr3_52540367_52690913 | 52571856 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0263 | 1 | 300 | 0.0033 | 17 | c.373 others(36): Show |
PBRM1 | ENSG00000163939.19 | transcript | ENST00000707071.1 | protein_coding | 24/31 | chr3 | TogoVar | |||||||
PBRM1_chr3_52540367_52690913 | 52584450 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0272 | 1 | 300 | 0.0033 | 17 | c.343 others(36): Show |
PBRM1 | ENSG00000163939.19 | transcript | ENST00000707071.1 | protein_coding | 22/31 | chr3 | TogoVar | |||||||
PBRM1_chr3_52540367_52690913 | 52612258 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01433.hp2 HG02683.hp1 NA18949.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0181 a0001c0002t0001g0185 a0001c0002t0001g0225 others(1): Show |
4 | 300 | 0.0133 | 17 | c.197 others(36): Show |
PBRM1 | ENSG00000163939.19 | transcript | ENST00000707071.1 | protein_coding | 17/31 | chr3 | TogoVar | |||||||
PBRM1_chr3_52540367_52690913 | 52636757 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | NA19068.hp1 | a0006 | a0006c0014 | a0006c0014t0001 | a0006c0014t0001g0156 | 1 | 300 | 0.0033 | 17 | c.108 others(36): Show |
PBRM1 | ENSG00000163939.19 | transcript | ENST00000707071.1 | protein_coding | 11/31 | chr3 | TogoVar | |||||||
PBRM1_chr3_52540367_52690913 | 52637773 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01192.hp1 HG01258.hp2 others(10): Show |
a0001a0005 | a0001c0002a0005c0012 | a0001c0002t0001a0001c0002t0003a0005c0012t0001 | a0001c0002t0001g0166 a0001c0002t0001g0168 a0001c0002t0001g0173 others(10): Show |
13 | 300 | 0.0433 | 17 | c.108 others(36): Show |
PBRM1 | ENSG00000163939.19 | transcript | ENST00000707071.1 | protein_coding | 11/31 | chr3 | TogoVar | |||||||
PBX1_chr1_164554184_164856831 | 164724670 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00423.hp1 NA18944.hp2 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0003 | a0002c0002t0002g0111 a0002c0002t0003g0169 |
2 | 184 | 0.0109 | 17 | c.266 others(36): Show |
PBX1 | ENSG00000185630.20 | transcript | ENST00000420696.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PBX3_chr9_125742373_125972377 | 125955183 | G | GCTCCGTT others(10): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(146): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(9): Show | a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 others(146): Show |
149 | 294 | 0.5068 | 17 | c.844 others(34): Show |
PBX3 | ENSG00000167081.18 | transcript | ENST00000373489.10 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PCBD2_chr5_134900131_134967644 | 134904246 | C | CAAAAAAA others(10): Show |
upstream_gene_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0297 | 1 | 330 | 0.0030 | 17 | c.-89 others(26): Show |
PCBD2 | ENSG00000132570.15 | transcript | ENST00000254908.11 | protein_coding | 884 | chr5 | TogoVar | |||||||
PCBP2_chr12_53447102_53486162 | 53479668 | C | CTGGTTTT others(10): Show |
3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(275): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(18): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(236): Show |
278 | 348 | 0.7989 | 17 | c.*24 others(26): Show |
PCBP2 | ENSG00000197111.16 | transcript | ENST00000546463.6 | protein_coding | 15/15 | 242 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PCBP2_chr12_53447102_53486162 | 53479671 | G | GTTTTTTT others(10): Show |
3_prime_UTR_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0033 | 1 | 348 | 0.0029 | 17 | c.*24 others(26): Show |
PCBP2 | ENSG00000197111.16 | transcript | ENST00000546463.6 | protein_coding | 15/15 | 242 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PCBP2_chr12_53447102_53486162 | 53479671 | G | GTTTTTTT others(10): Show |
3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG01168.hp1 HG01169.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0012 a0001c0001t0010g0219 a0001c0001t0010g0224 |
4 | 348 | 0.0115 | 17 | c.*24 others(26): Show |
PCBP2 | ENSG00000197111.16 | transcript | ENST00000546463.6 | protein_coding | 15/15 | 242 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PCBP3_chr21_45638725_45947450 | 45646093 | C | CTCTCTCT others(10): Show |
intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0250 | 1 | 292 | 0.0034 | 17 | c.-27 others(36): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45784427 | T | TCTACCGC others(10): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02970.hp2 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0212 a0001c0001t0004g0213 a0001c0001t0004g0214 |
3 | 292 | 0.0103 | 17 | c.-12 others(38): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCCA_chr13_100084093_100535435 | 100347937 | G | GTAATATA others(10): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0008 | a0008c0009 | a0008c0009t0001 | a0008c0009t0001g0103 | 1 | 174 | 0.0058 | 17 | c.164 others(36): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 18/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PCCA_chr13_100084093_100535435 | 100400630 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 174 | 0.0058 | 17 | c.174 others(38): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PCCA_chr13_100084093_100535435 | 100451972 | C | CTCTCCCT others(10): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0086 | 1 | 174 | 0.0058 | 17 | c.189 others(36): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PCDH11X_chrX_91774375_92628230 | 92111219 | T | TAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02615.hp2 HG03195.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0014a0001c0002t0002 | a0001c0001t0014g0151 a0001c0002t0002g0008 |
2 | 154 | 0.0130 | 17 | c.303 others(38): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PCDH11X_chrX_91774375_92628230 | 92148132 | T | TCCTTCCT others(10): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0082 | 1 | 154 | 0.0065 | 17 | c.303 others(38): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 6/10 | chrX | TogoVar | |||||||
PCDH11X_chrX_91774375_92628230 | 92355417 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | NA18983.hp1 NA19004.hp1 NA19058.hp1 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0003a0002c0004t0009 | a0001c0001t0001g0042 a0001c0001t0003g0079 a0002c0004t0009g0035 |
3 | 154 | 0.0195 | 17 | c.314 others(38): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PCDH11X_chrX_91774375_92628230 | 92375166 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0143 | 1 | 154 | 0.0065 | 17 | c.314 others(38): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PCDH11X_chrX_91774375_92628230 | 92375166 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0043 | 1 | 154 | 0.0065 | 17 | c.314 others(38): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PCDH11X_chrX_91774375_92628230 | 92452500 | T | TATATATA others(10): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0049 | 1 | 154 | 0.0065 | 17 | c.334 others(38): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 9/10 | chrX | TogoVar | |||||||
PCDH11X_chrX_91774375_92628230 | 92499636 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG03942.hp1 HG04199.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0018 | a0001c0001t0001g0109 a0001c0001t0018g0087 |
2 | 154 | 0.0130 | 17 | c.336 others(38): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PCDH11Y_chrY_4995296_5747224 | 5525143 | G | GAAAAGAA others(10): Show |
intron_variant | MODIFIER | HG02572.hp1 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0111 a0001c0001t0009g0112 |
2 | 115 | 0.0174 | 17 | c.305 others(38): Show |
PCDH11Y | ENSG00000099715.15 | transcript | ENST00000698851.1 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
PCDH15_chr10_53797771_54806231 | 53828207 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0032 | a0032c0036 | a0032c0036t0004 | a0032c0036t0004g0061 | 1 | 102 | 0.0098 | 17 | c.421 others(34): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 31/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53797771_54806231 | 53888702 | T | TATATATA others(10): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01934.hp1 HG03579.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0020a0002c0002t0002 | a0001c0001t0001g0043 a0001c0001t0001g0101 a0001c0001t0020g0095 others(1): Show |
4 | 102 | 0.0392 | 17 | c.350 others(38): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 26/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53797771_54806231 | 54194693 | T | TATCTATC others(10): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0037 | a0037c0016 | a0037c0016t0001 | a0037c0016t0001g0028 | 1 | 102 | 0.0098 | 17 | c.130 others(34): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 11/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53797771_54806231 | 54296144 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0024 | a0024c0031 | a0024c0031t0010 | a0024c0031t0010g0066 | 1 | 102 | 0.0098 | 17 | c.876 others(36): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 8/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53797771_54806231 | 54655256 | A | AGAGAGAG others(10): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0002 | a0002c0002 | a0002c0002t0024 | a0002c0002t0024g0069 | 1 | 102 | 0.0098 | 17 | c.91+ others(32): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 2/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53816099_54806231 | 53828207 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0026 | a0026c0041 | a0026c0041t0002 | a0026c0041t0002g0057 | 1 | 94 | 0.0106 | 17 | c.421 others(34): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 31/32 | chr10 | TogoVar | |||||||
PCDH15_chr10_53816099_54806231 | 53888702 | T | TATATATA others(10): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01934.hp1 HG03579.hp2 others(1): Show |
a0001a0002a0028 | a0001c0001a0001c0007a0002c0002others(1): Show | a0001c0001t0001a0001c0007t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0040 a0001c0007t0001g0087 a0002c0002t0001g0034 others(1): Show |
4 | 94 | 0.0426 | 17 | c.350 others(38): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 26/32 | chr10 | TogoVar | |||||||
PCDH15_chr10_53816099_54806231 | 54194693 | T | TATCTATC others(10): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0033 | a0033c0020 | a0033c0020t0001 | a0033c0020t0001g0025 | 1 | 94 | 0.0106 | 17 | c.130 others(34): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 11/32 | chr10 | TogoVar | |||||||
PCDH15_chr10_53816099_54806231 | 54655256 | A | AGAGAGAG others(10): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0063 | 1 | 94 | 0.0106 | 17 | c.91+ others(32): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 2/32 | chr10 | TogoVar | |||||||
PCDH19_chrX_100286644_100415273 | 100322865 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0017 | a0001c0017t0004 | a0001c0017t0004g0151 | 1 | 281 | 0.0036 | 17 | c.284 others(38): Show |
PCDH19 | ENSG00000165194.15 | transcript | ENST00000373034.8 | protein_coding | 5/5 | chrX | TogoVar | |||||||
PCDH19_chrX_100286644_100415273 | 100322865 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0145 | 1 | 281 | 0.0036 | 17 | c.284 others(38): Show |
PCDH19 | ENSG00000165194.15 | transcript | ENST00000373034.8 | protein_coding | 5/5 | chrX | TogoVar | |||||||
PCDH7_chr4_30715369_31151800 | 30889137 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0131 | 1 | 214 | 0.0047 | 17 | c.317 others(38): Show |
PCDH7 | ENSG00000169851.16 | transcript | ENST00000695919.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCDH7_chr4_30715369_31151800 | 30896889 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0146 | 1 | 214 | 0.0047 | 17 | c.317 others(38): Show |
PCDH7 | ENSG00000169851.16 | transcript | ENST00000695919.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCDH7_chr4_30715369_31151800 | 30946690 | T | TGTGTGTG others(10): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01496.hp2 |
a0001a0003 | a0001c0001a0003c0011 | a0001c0001t0011a0003c0011t0011 | a0001c0001t0011g0202 a0003c0011t0011g0181 |
2 | 214 | 0.0094 | 17 | c.339 others(38): Show |
PCDH7 | ENSG00000169851.16 | transcript | ENST00000695919.1 | protein_coding | 2/2 | chr4 | TogoVar | |||||||
PCDH7_chr4_30715369_31151800 | 31074784 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01109.hp1 HG01496.hp1 others(7): Show |
a0001 | a0001c0001a0001c0003a0001c0023 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(5): Show | a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0003g0058 others(7): Show |
10 | 214 | 0.0467 | 17 | c.339 others(38): Show |
PCDH7 | ENSG00000169851.16 | transcript | ENST00000695919.1 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCDH7_chr4_30715369_31151800 | 31097638 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG00621.hp1 NA18906.hp1 NA19011.hp1 |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0008a0001c0002t0003a0001c0003t0047 | a0001c0001t0008g0039 a0001c0002t0003g0139 a0001c0003t0047g0005 |
3 | 214 | 0.0140 | 17 | c.339 others(38): Show |
PCDH7 | ENSG00000169851.16 | transcript | ENST00000695919.1 | protein_coding | 2/2 | chr4 | TogoVar |