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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PBX3_chr9_125742373_125972377 | 125777010 | C | CTTTTTTT | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00609.hp1 others(27): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0004a0001c0002t0014 | a0001c0002t0003g0142a0001c0002t0004g0118a0001c0002t0004g0135others(27): Show | 30 | 294 | 0.1020 | 7 | c.274 others(26): Show |
PBX3 | ENSG00000167081.18 | transcript | ENST00000373489.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PBX3_chr9_125742373_125972377 | 125781579 | G | GGAGAGGC | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 HG03225.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174a0001c0001t0001g0181a0001c0001t0001g0182others(2): Show | 5 | 294 | 0.0170 | 7 | c.274 others(26): Show |
PBX3 | ENSG00000167081.18 | transcript | ENST00000373489.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PBX3_chr9_125742373_125972377 | 125793366 | A | ATATATAT | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG02080.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0023a0001c0001t0002g0041a0001c0001t0002g0057others(4): Show | 7 | 294 | 0.0238 | 7 | c.274 others(26): Show |
PBX3 | ENSG00000167081.18 | transcript | ENST00000373489.10 | protein_coding | 2/8 | chr9 | TogoVar | ||||||
PBX3_chr9_125742373_125972377 | 125971711 | G | GTTTTTTT | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00438.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0002g0082a0001c0001t0002g0093a0001c0001t0003g0002others(15): Show | 18 | 294 | 0.0612 | 7 | c.*57 others(18): Show |
PBX3 | ENSG00000167081.18 | transcript | ENST00000373489.10 | protein_coding | 4335 | chr9 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45784420 | C | CCCTACCT | intron_variant | MODIFIER | HG02015.hp2 HG03927.hp1 HG03942.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0141a0001c0001t0001g0181a0001c0001t0002g0066 | 3 | 292 | 0.0103 | 7 | c.-12 others(28): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCBP3_chr21_45638725_45947450 | 45814641 | A | AGTGAGTG | intron_variant | MODIFIER | HG01891.hp2 HG02965.hp2 HG03453.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0022 | a0001c0001t0002g0209a0001c0001t0002g0217a0001c0001t0002g0218others(2): Show | 5 | 292 | 0.0171 | 7 | c.-12 others(28): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCBP3_chr21_45638725_45947450 | 45814988 | A | AGTGAGTG | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00558.hp1 others(65): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0002g0209a0001c0001t0002g0217a0001c0001t0002g0218others(65): Show | 68 | 292 | 0.2329 | 7 | c.-12 others(28): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCCA_chr13_100084093_100535435 | 100422070 | T | TTTCTTTC | intron_variant | MODIFIER | HG00408.hp1 HG00639.hp1 HG00738.hp1 others(21): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0007others(21): Show | 24 | 174 | 0.1379 | 7 | c.174 others(26): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PCCA_chr13_100084093_100535435 | 100516760 | T | TGTGTGTG | intron_variant | MODIFIER | HG01074.hp2 HG02258.hp2 HG02723.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056a0001c0001t0001g0088a0001c0001t0001g0115others(4): Show | 7 | 174 | 0.0402 | 7 | c.204 others(26): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 22/23 | chr13 | TogoVar | ||||||
PCDH11X_chrX_91774375_92628230 | 91917569 | C | CAAAAAAA | intron_variant | MODIFIER | NA18943.hp1 NA18986.hp1 NA19091.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0029a0001c0001t0001g0099a0001c0001t0002g0078 | 3 | 154 | 0.0195 | 7 | c.303 others(28): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PCDH11X_chrX_91774375_92628230 | 92111219 | T | TAAAAAAA | intron_variant | MODIFIER | HG01081.hp1 HG01109.hp1 HG02630.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0005a0001c0001t0020a0001c0002t0002others(1): Show | a0001c0001t0005g0050a0001c0001t0020g0149a0001c0002t0002g0011others(1): Show | 4 | 154 | 0.0260 | 7 | c.303 others(28): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PCDH11X_chrX_91774375_92628230 | 92148097 | T | TTTCCTTC | intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 154 | 0.0065 | 7 | c.303 others(28): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 6/10 | chrX | TogoVar | ||||||
PCDH11X_chrX_91774375_92628230 | 92148101 | T | TTTCCTTC | intron_variant | MODIFIER | HG00642.hp1 HG01099.hp1 NA19079.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071a0001c0001t0001g0107a0001c0001t0001g0153 | 3 | 154 | 0.0195 | 7 | c.303 others(28): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 6/10 | chrX | TogoVar | ||||||
PCDH11X_chrX_91774375_92628230 | 92148105 | T | TTTCCTTC | intron_variant | MODIFIER | HG03098.hp1 NA18747.hp1 NA18945.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0010 | a0001c0001t0001g0120a0001c0001t0003g0096a0001c0001t0010g0150 | 3 | 154 | 0.0195 | 7 | c.303 others(28): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 6/10 | chrX | TogoVar | ||||||
PCDH11X_chrX_91774375_92628230 | 92148109 | T | TTTCCTTC | intron_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0100 | 1 | 154 | 0.0065 | 7 | c.303 others(28): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 6/10 | chrX | TogoVar | ||||||
PCDH11X_chrX_91774375_92628230 | 92403329 | G | GTTTTTTT | intron_variant | MODIFIER | HG00609.hp1 HG02055.hp1 HG02451.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(2): Show | a0001c0001t0001g0047a0001c0001t0002g0067a0001c0001t0013g0089others(2): Show | 5 | 154 | 0.0325 | 7 | c.334 others(28): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PCDH11X_chrX_91774375_92628230 | 92452500 | T | TATATATG | intron_variant | MODIFIER | HG00673.hp1 NA18995.hp1 NA19079.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031a0001c0001t0001g0071a0001c0001t0001g0125 | 3 | 154 | 0.0195 | 7 | c.334 others(28): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 9/10 | chrX | TogoVar | ||||||
PCDH11X_chrX_91774375_92628230 | 92487048 | C | CTTTTTTT | intron_variant | MODIFIER | HG02818.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0011 | a0001c0001t0008g0148a0001c0001t0011g0010 | 2 | 154 | 0.0130 | 7 | c.336 others(28): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PCDH11X_chrX_91774375_92628230 | 92606232 | C | CAAAAAAA | intron_variant | MODIFIER | HG02572.hp1 HG02818.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0011 | a0001c0001t0006g0003a0001c0001t0011g0010 | 2 | 154 | 0.0130 | 7 | c.336 others(28): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PCDH11Y_chrY_4995296_5747224 | 5393657 | C | CAAAAAAA | intron_variant | MODIFIER | HG03017.hp1 NA19043.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0098a0002c0002t0001g0047 | 2 | 115 | 0.0174 | 7 | c.285 others(30): Show |
PCDH11Y | ENSG00000099715.15 | transcript | ENST00000698851.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
PCDH11Y_chrY_4995296_5747224 | 5541687 | T | TTTCTTTC | intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0055 | 1 | 115 | 0.0087 | 7 | c.305 others(28): Show |
PCDH11Y | ENSG00000099715.15 | transcript | ENST00000698851.1 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
PCDH11Y_chrY_4995296_5747224 | 5682239 | G | GTTTTTTT | intron_variant | MODIFIER | HG01069.hp1 HG01943.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0083a0002c0002t0002g0045 | 2 | 115 | 0.0174 | 7 | c.307 others(28): Show |
PCDH11Y | ENSG00000099715.15 | transcript | ENST00000698851.1 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
PCDH15_chr10_53797771_54806231 | 53888702 | T | TATATATA | intron_variant | MODIFIER | HG02602.hp1 HG02965.hp1 HG03942.hp2 others(2): Show |
a0003a0004a0005others(1): Show | a0003c0003a0004c0004a0005c0005others(1): Show | a0003c0003t0001a0003c0003t0002a0004c0004t0005others(2): Show | a0003c0003t0001g0009a0003c0003t0002g0020a0004c0004t0005g0057others(2): Show | 5 | 102 | 0.0490 | 7 | c.350 others(28): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 26/37 | chr10 | TogoVar | ||||||
PCDH15_chr10_53797771_54806231 | 53957503 | G | GTTTTTTT | intron_variant | MODIFIER | HG01884.hp1 HG02258.hp2 HG03098.hp2 others(3): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0003a0004c0004others(1): Show | a0001c0001t0001a0001c0001t0004a0003c0003t0001others(2): Show | a0001c0001t0001g0006a0001c0001t0001g0014a0001c0001t0004g0031others(3): Show | 6 | 102 | 0.0588 | 7 | c.312 others(26): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 23/37 | chr10 | TogoVar | ||||||
PCDH15_chr10_53797771_54806231 | 53961130 | A | ATACCACT | intron_variant | MODIFIER | HG01167.hp1 HG03041.hp2 HG03209.hp2 |
a0001a0017a0026 | a0001c0001a0017c0011a0026c0033 | a0001c0001t0003a0017c0011t0012a0026c0033t0017 | a0001c0001t0003g0098a0017c0011t0012g0086a0026c0033t0017g0023 | 3 | 102 | 0.0294 | 7 | c.300 others(24): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 22/37 | chr10 | TogoVar | ||||||
PCDH15_chr10_53797771_54806231 | 54004426 | C | CACACACA | intron_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG01069.hp2 others(17): Show |
a0001a0003a0004others(5): Show | a0001c0001a0003c0003a0004c0004others(5): Show | a0001c0001t0014a0003c0003t0001a0003c0003t0002others(14): Show | a0001c0001t0014g0074a0003c0003t0001g0009a0003c0003t0001g0017others(17): Show | 20 | 102 | 0.1961 | 7 | c.275 others(26): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 20/37 | chr10 | TogoVar | ||||||
PCDH15_chr10_53797771_54806231 | 54099513 | A | AAATATAT | intron_variant | MODIFIER | HG02258.hp2 HG03041.hp1 HG03098.hp2 others(1): Show |
a0001a0005a0012 | a0001c0001a0005c0005a0012c0016 | a0001c0001t0001a0001c0001t0004a0005c0005t0009others(1): Show | a0001c0001t0001g0006a0001c0001t0004g0031a0005c0005t0009g0085others(1): Show | 4 | 102 | 0.0392 | 7 | c.191 others(26): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 15/37 | chr10 | TogoVar | ||||||
PCDH15_chr10_53797771_54806231 | 54182022 | A | ATCTTGGT | intron_variant | MODIFIER | HG01069.hp2 HG02145.hp2 HG02258.hp1 others(10): Show |
a0001a0002a0006others(7): Show | a0001c0001a0002c0002a0006c0006others(7): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0004others(9): Show | a0001c0001t0001g0101a0001c0001t0003g0087a0001c0001t0003g0098others(10): Show | 13 | 102 | 0.1275 | 7 | c.159 others(26): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 13/37 | chr10 | TogoVar | ||||||
PCDH15_chr10_53797771_54806231 | 54198495 | C | CTTTTTTT | intron_variant | MODIFIER | HG00642.hp2 HG00738.hp1 HG00738.hp2 others(7): Show |
a0001a0008a0014 | a0001c0001a0008c0010a0008c0032others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(4): Show | a0001c0001t0001g0006a0001c0001t0001g0014a0001c0001t0001g0039others(7): Show | 10 | 102 | 0.0980 | 7 | c.109 others(26): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 10/37 | chr10 | TogoVar | ||||||
PCDH15_chr10_53797771_54806231 | 54232924 | C | CTTTTTTT | intron_variant | MODIFIER | HG01069.hp2 HG01243.hp2 HG02258.hp1 others(3): Show |
a0001a0015a0017others(3): Show | a0001c0001a0015c0013a0017c0011others(3): Show | a0001c0001t0001a0015c0013t0003a0017c0011t0012others(3): Show | a0001c0001t0001g0090a0015c0013t0003g0035a0017c0011t0012g0086others(3): Show | 6 | 102 | 0.0588 | 7 | c.985 others(24): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 9/37 | chr10 | TogoVar | ||||||
PCDH15_chr10_53797771_54806231 | 54375896 | T | TATATATA | intron_variant | MODIFIER | HG01192.hp1 HG02602.hp1 HG03492.hp2 others(1): Show |
a0001a0005a0008others(1): Show | a0001c0001a0005c0005a0008c0010others(1): Show | a0001c0001t0014a0005c0005t0002a0008c0010t0001others(1): Show | a0001c0001t0014g0074a0005c0005t0002g0094a0008c0010t0001g0091others(1): Show | 4 | 102 | 0.0392 | 7 | c.318 others(24): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 4/37 | chr10 | TogoVar | ||||||
PCDH15_chr10_53797771_54806231 | 54436031 | G | GGAGAGGA | intron_variant | MODIFIER | HG06807.hp1 NA20129.hp2 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0007 | a0002c0002t0002g0037a0002c0002t0007g0038 | 2 | 102 | 0.0196 | 7 | c.158 others(26): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 3/37 | chr10 | TogoVar | ||||||
PCDH15_chr10_53797771_54806231 | 54559850 | T | TAAAAAAA | intron_variant | MODIFIER | HG01175.hp1 HG01981.hp2 HG02486.hp2 others(2): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0002c0002t0005a0003c0003t0003others(2): Show | a0001c0001t0001g0044a0002c0002t0005g0016a0003c0003t0003g0056others(2): Show | 5 | 102 | 0.0490 | 7 | c.92- others(24): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 2/37 | chr10 | TogoVar | ||||||
PCDH15_chr10_53797771_54806231 | 54561980 | C | CTTTTTTT | intron_variant | MODIFIER | HG00642.hp2 HG02027.hp1 HG02145.hp2 others(2): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0002a0001c0001t0008a0002c0002t0002others(2): Show | a0001c0001t0002g0070a0001c0001t0008g0003a0002c0002t0002g0063others(2): Show | 5 | 102 | 0.0490 | 7 | c.92- others(24): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 2/37 | chr10 | TogoVar | ||||||
PCDH15_chr10_53797771_54806231 | 54686041 | A | ATTTTTTT | intron_variant | MODIFIER | HG00642.hp2 HG00741.hp2 HG02027.hp1 others(4): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0002a0002c0002t0002a0002c0002t0024others(4): Show | a0001c0001t0002g0070a0002c0002t0002g0063a0002c0002t0024g0069others(4): Show | 7 | 102 | 0.0686 | 7 | c.-28 others(26): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 1/37 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 53888702 | T | TATATATA | intron_variant | MODIFIER | HG02602.hp1 HG02965.hp2 HG03942.hp2 others(2): Show |
a0003a0004a0005others(1): Show | a0003c0003a0003c0005a0004c0004others(2): Show | a0003c0003t0001a0003c0005t0001a0004c0004t0001others(2): Show | a0003c0003t0001g0009a0003c0005t0001g0020a0004c0004t0001g0048others(2): Show | 5 | 94 | 0.0532 | 7 | c.350 others(28): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 26/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 53957503 | G | GTTTTTTT | intron_variant | MODIFIER | HG01884.hp1 HG02258.hp2 HG03098.hp2 others(3): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0003a0004c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0003c0003t0001others(2): Show | a0001c0001t0001g0006a0001c0001t0001g0014a0001c0001t0002g0028others(3): Show | 6 | 94 | 0.0638 | 7 | c.312 others(26): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 23/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 53961130 | A | ATACCACT | intron_variant | MODIFIER | HG03041.hp1 HG03209.hp1 |
a0001a0015 | a0001c0007a0015c0011 | a0001c0007t0001a0015c0011t0001 | a0001c0007t0001g0090a0015c0011t0001g0078 | 2 | 94 | 0.0213 | 7 | c.300 others(24): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 22/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 54004426 | C | CACACACA | intron_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG01069.hp1 others(17): Show |
a0003a0004a0005others(6): Show | a0003c0003a0003c0005a0003c0025others(11): Show | a0003c0003t0001a0003c0003t0002a0003c0005t0001others(13): Show | a0003c0003t0001g0009a0003c0003t0001g0017a0003c0003t0001g0030others(17): Show | 20 | 94 | 0.2128 | 7 | c.275 others(26): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 20/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 54099513 | A | AAATATAT | intron_variant | MODIFIER | HG02258.hp2 HG03041.hp2 HG03098.hp2 others(1): Show |
a0001a0005a0012 | a0001c0001a0005c0036a0012c0020 | a0001c0001t0001a0001c0001t0002a0005c0036t0001others(1): Show | a0001c0001t0001g0006a0001c0001t0002g0028a0005c0036t0001g0077others(1): Show | 4 | 94 | 0.0426 | 7 | c.191 others(26): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 15/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 54182022 | A | ATCTTGGT | intron_variant | MODIFIER | HG01069.hp1 HG02145.hp1 HG02258.hp1 others(9): Show |
a0001a0002a0006others(7): Show | a0001c0007a0002c0002a0002c0029others(8): Show | a0001c0007t0001a0002c0002t0002a0002c0029t0001others(8): Show | a0001c0007t0001g0079a0001c0007t0001g0090a0002c0002t0002g0071others(9): Show | 12 | 94 | 0.1277 | 7 | c.159 others(26): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 13/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 54198495 | C | CTTTTTTT | intron_variant | MODIFIER | HG00642.hp1 HG00738.hp1 HG00738.hp2 others(7): Show |
a0001a0008a0010 | a0001c0001a0008c0016a0010c0010 | a0001c0001t0001a0008c0016t0001a0010c0010t0003 | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0014others(7): Show | 10 | 94 | 0.1064 | 7 | c.109 others(26): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 10/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 54232924 | C | CTTTTTTT | intron_variant | MODIFIER | HG01069.hp1 HG01243.hp1 HG02258.hp1 others(2): Show |
a0001a0008a0015others(2): Show | a0001c0001a0008c0015a0015c0011others(2): Show | a0001c0001t0001a0008c0015t0001a0015c0011t0001others(2): Show | a0001c0001t0001g0082a0008c0015t0001g0032a0015c0011t0001g0078others(2): Show | 5 | 94 | 0.0532 | 7 | c.985 others(24): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 9/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 54375896 | T | TATATATA | intron_variant | MODIFIER | HG01192.hp1 HG02602.hp1 HG03492.hp2 others(1): Show |
a0001a0005a0010others(1): Show | a0001c0001a0005c0035a0010c0010others(1): Show | a0001c0001t0001a0005c0035t0001a0010c0010t0003others(1): Show | a0001c0001t0001g0083a0005c0035t0001g0086a0010c0010t0003g0068others(1): Show | 4 | 94 | 0.0426 | 7 | c.318 others(24): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 4/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 54436031 | G | GGAGAGGA | intron_variant | MODIFIER | HG06807.hp2 NA20129.hp2 |
a0002a0029 | a0002c0002a0029c0030 | a0002c0002t0001a0029c0030t0001 | a0002c0002t0001g0034a0029c0030t0001g0035 | 2 | 94 | 0.0213 | 7 | c.158 others(26): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 3/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 54559850 | T | TAAAAAAA | intron_variant | MODIFIER | HG01175.hp2 HG01981.hp2 HG02486.hp2 others(2): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0006a0003c0003others(2): Show | a0001c0001t0001a0002c0006t0001a0003c0003t0001others(2): Show | a0001c0001t0001g0041a0002c0006t0001g0016a0003c0003t0001g0054others(2): Show | 5 | 94 | 0.0532 | 7 | c.92- others(24): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 2/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 54561980 | C | CTTTTTTT | intron_variant | MODIFIER | HG00642.hp1 HG02027.hp1 HG02145.hp1 others(2): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0006a0003c0005others(1): Show | a0001c0001t0001a0002c0006t0001a0003c0005t0001others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0064a0002c0006t0001g0059others(2): Show | 5 | 94 | 0.0532 | 7 | c.92- others(24): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 2/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 54686041 | A | ATTTTTTT | intron_variant | MODIFIER | HG00642.hp1 HG00741.hp2 HG02027.hp1 others(3): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0006others(3): Show | a0001c0001t0001a0002c0002t0001a0002c0006t0001others(3): Show | a0001c0001t0001g0064a0002c0002t0001g0063a0002c0006t0001g0059others(3): Show | 6 | 94 | 0.0638 | 7 | c.-28 others(26): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 1/32 | chr10 | TogoVar | ||||||
PCDH19_chrX_100286644_100415273 | 100333161 | G | GAGAGAGA | intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0222 | 1 | 281 | 0.0036 | 7 | c.284 others(26): Show |
PCDH19 | ENSG00000165194.15 | transcript | ENST00000373034.8 | protein_coding | 5/5 | chrX | TogoVar | ||||||
PCDH19_chrX_100286644_100415273 | 100333165 | G | GAGAGAGA | intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 281 | 0.0036 | 7 | c.284 others(26): Show |
PCDH19 | ENSG00000165194.15 | transcript | ENST00000373034.8 | protein_coding | 5/5 | chrX | TogoVar |