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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PCBP3_chr21_45638725_45947450 | 45814641 | A | AGTGAGTG | intron_variant | MODIFIER | HG01891.hp2 HG02965.hp2 HG03453.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0022 | a0001c0001t0002g0215 a0001c0001t0002g0219 a0001c0001t0002g0220 others(2): Show |
5 | 290 | 0.0172 | 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(64): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0002g0215 a0001c0001t0002g0219 a0001c0001t0002g0220 others(63): Show |
67 | 290 | 0.2310 | 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 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(21): Show |
24 | 81 | 0.2963 | 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 | a0001c0001t0001g0056 a0001c0001t0001g0088 a0001c0001t0001g0115 others(4): Show |
7 | 140 | 0.0500 | 7 | c.204 others(26): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 22/23 | chr13 | TogoVar | |||||||
PCDH11X_chrX_91774375_92628230 | 92148101 | T | TTTCCTTC | intron_variant | MODIFIER | HG00642.hp1 HG01099.hp1 NA19079.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 a0001c0001t0001g0106 a0001c0001t0001g0138 |
3 | 138 | 0.0217 | 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 | a0001c0001t0001g0120 a0001c0001t0003g0094 a0001c0001t0010g0142 |
3 | 126 | 0.0238 | 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 | a0001c0001t0001g0048 a0001c0001t0002g0065 a0001c0001t0013g0086 others(2): Show |
5 | 76 | 0.0658 | 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 | a0001c0001t0001g0029 a0001c0001t0001g0069 a0001c0001t0001g0128 |
3 | 105 | 0.0286 | 7 | c.334 others(28): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 9/10 | chrX | TogoVar | |||||||
PCDH11Y_chrY_4995296_5747224 | 5393657 | C | CAAAAAAA | intron_variant | MODIFIER | HG03017.hp1 NA19043.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0098 a0002c0002t0001g0047 |
2 | 11 | 0.1818 | 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 | 7 | 0.1429 | 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 | a0001c0001t0001g0083 a0002c0002t0002g0045 |
2 | 26 | 0.0769 | 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 | a0003c0003t0001g0009 a0003c0003t0002g0020 a0004c0004t0005g0054 others(2): Show |
5 | 62 | 0.0806 | 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 | a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0004g0035 others(3): Show |
6 | 37 | 0.1622 | 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 |
a0001a0014a0028 | a0001c0001a0014c0033a0028c0011 | a0001c0001t0003a0014c0033t0017a0028c0011t0012 | a0001c0001t0003g0098 a0014c0033t0017g0030 a0028c0011t0012g0086 |
3 | 100 | 0.0300 | 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 | a0001c0001t0014g0067 a0003c0003t0001g0009 a0003c0003t0001g0018 others(17): Show |
20 | 61 | 0.3279 | 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 |
a0001a0005a0037 | a0001c0001a0005c0005a0037c0016 | a0001c0001t0001a0001c0001t0004a0005c0005t0009others(1): Show | a0001c0001t0001g0006 a0001c0001t0004g0035 a0005c0005t0009g0085 others(1): Show |
4 | 66 | 0.0606 | 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 | a0001c0001t0001g0101 a0001c0001t0003g0088 a0001c0001t0003g0098 others(10): Show |
13 | 100 | 0.1300 | 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 |
a0001a0007a0013 | a0001c0001a0007c0010a0007c0032others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(4): Show | a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0041 others(7): Show |
10 | 53 | 0.1887 | 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 |
a0001a0012a0019others(3): Show | a0001c0001a0012c0035a0019c0019others(3): Show | a0001c0001t0001a0012c0035t0005a0019c0019t0015others(3): Show | a0001c0001t0001g0090 a0012c0035t0005g0100 a0019c0019t0015g0001 others(3): Show |
6 | 68 | 0.0882 | 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 |
a0001a0005a0007others(1): Show | a0001c0001a0005c0005a0007c0010others(1): Show | a0001c0001t0014a0005c0005t0002a0007c0010t0001others(1): Show | a0001c0001t0014g0067 a0005c0005t0002g0093 a0007c0010t0001g0092 others(1): Show |
4 | 98 | 0.0408 | 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 | a0002c0002t0002g0036 a0002c0002t0007g0032 |
2 | 74 | 0.0270 | 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 | a0001c0001t0001g0043 a0002c0002t0005g0015 a0003c0003t0003g0050 others(2): Show |
5 | 67 | 0.0746 | 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 | a0001c0001t0002g0068 a0001c0001t0008g0003 a0002c0002t0002g0062 others(2): Show |
5 | 35 | 0.1429 | 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 | a0001c0001t0002g0068 a0002c0002t0002g0062 a0002c0002t0024g0066 others(4): Show |
7 | 46 | 0.1522 | 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 | a0003c0003t0001g0009 a0003c0005t0001g0020 a0004c0004t0001g0051 others(2): Show |
5 | 55 | 0.0909 | 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 | a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0002g0032 others(3): Show |
6 | 32 | 0.1875 | 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 |
a0001a0021 | a0001c0007a0021c0011 | a0001c0007t0001a0021c0011t0001 | a0001c0007t0001g0090 a0021c0011t0001g0078 |
2 | 92 | 0.0217 | 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 | a0003c0003a0003c0005a0003c0024others(11): Show | a0003c0003t0001a0003c0003t0002a0003c0005t0001others(13): Show | a0003c0003t0001g0009 a0003c0003t0001g0018 a0003c0003t0001g0035 others(17): Show |
20 | 57 | 0.3509 | 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 |
a0001a0005a0033 | a0001c0001a0005c0035a0033c0020 | a0001c0001t0001a0001c0001t0002a0005c0035t0001others(1): Show | a0001c0001t0001g0006 a0001c0001t0002g0032 a0005c0035t0001g0077 others(1): Show |
4 | 62 | 0.0645 | 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 | a0001c0007a0002c0002a0002c0028others(8): Show | a0001c0007t0001a0002c0002t0002a0002c0028t0001others(8): Show | a0001c0007t0001g0080 a0001c0007t0001g0090 a0002c0002t0002g0071 others(9): Show |
12 | 92 | 0.1304 | 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 |
a0001a0007a0008 | a0001c0001a0007c0010a0008c0016 | a0001c0001t0001a0007c0010t0003a0008c0016t0001 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0014 others(7): Show |
10 | 50 | 0.2000 | 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 |
a0001a0008a0011others(2): Show | a0001c0001a0008c0015a0011c0039others(2): Show | a0001c0001t0001a0008c0015t0001a0011c0039t0001others(2): Show | a0001c0001t0001g0082 a0008c0015t0001g0028 a0011c0039t0001g0092 others(2): Show |
5 | 64 | 0.0781 | 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 |
a0001a0005a0007others(1): Show | a0001c0001a0005c0034a0007c0010others(1): Show | a0001c0001t0001a0005c0034t0001a0007c0010t0003others(1): Show | a0001c0001t0001g0084 a0005c0034t0001g0085 a0007c0010t0003g0062 others(1): Show |
4 | 91 | 0.0440 | 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 |
a0002a0031 | a0002c0002a0031c0029 | a0002c0002t0001a0031c0029t0001 | a0002c0002t0001g0033 a0031c0029t0001g0029 |
2 | 67 | 0.0299 | 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 | a0001c0001t0001g0040 a0002c0006t0001g0015 a0003c0003t0001g0047 others(2): Show |
5 | 61 | 0.0820 | 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 | a0001c0001t0001g0003 a0001c0001t0001g0063 a0002c0006t0001g0058 others(2): Show |
5 | 33 | 0.1515 | 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 | a0001c0001t0001g0063 a0002c0002t0001g0061 a0002c0006t0001g0058 others(3): Show |
6 | 43 | 0.1395 | 7 | c.-28 others(26): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 1/32 | chr10 | TogoVar | |||||||
PCDH19_chrX_100286644_100415273 | 100379347 | A | ACACACAC | intron_variant | MODIFIER | HG02293.hp2 HG02895.hp1 HG02897.hp2 others(11): Show |
a0001a0002a0003 | a0001c0001a0001c0010a0002c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0021others(3): Show | a0001c0001t0001g0173 a0001c0001t0001g0182 a0001c0001t0001g0184 others(11): Show |
14 | 152 | 0.0921 | 7 | c.261 others(28): Show |
PCDH19 | ENSG00000165194.15 | transcript | ENST00000373034.8 | protein_coding | 3/5 | chrX | TogoVar | |||||||
PCDH1_chr5_141848090_141883410 | 141882686 | C | CGCCTCCT | upstream_gene_variant | MODIFIER | HG01175.hp1 HG02109.hp2 HG03654.hp1 others(3): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0002t0001a0003c0004t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0033 others(3): Show |
6 | 382 | 0.0157 | 7 | c.-44 others(18): Show |
PCDH1 | ENSG00000156453.14 | transcript | ENST00000287008.8 | protein_coding | 4277 | chr5 | TogoVar | |||||||
PCDH7_chr4_30715369_31151800 | 30764446 | G | GTTTATCA | intron_variant | MODIFIER | HG02109.hp1 HG02647.hp2 HG02717.hp2 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0007 | a0001c0004t0001g0015 a0001c0004t0007g0016 a0001c0004t0007g0018 others(1): Show |
4 | 214 | 0.0187 | 7 | c.317 others(28): Show |
PCDH7 | ENSG00000169851.16 | transcript | ENST00000695919.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCDH7_chr4_30715369_31151800 | 30894490 | A | AAATATAT | intron_variant | MODIFIER | HG02083.hp2 HG03834.hp1 NA18966.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0005a0001c0002t0003others(1): Show | a0001c0001t0003g0100 a0001c0001t0005g0032 a0001c0002t0003g0136 others(3): Show |
6 | 122 | 0.0492 | 7 | c.317 others(28): Show |
PCDH7 | ENSG00000169851.16 | transcript | ENST00000695919.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCDH7_chr4_30715369_31151800 | 30894490 | A | ATATATAT | intron_variant | MODIFIER | HG02040.hp1 HG02083.hp1 NA18948.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0012a0001c0001t0024others(1): Show | a0001c0001t0005g0034 a0001c0001t0012g0037 a0001c0001t0024g0035 others(2): Show |
5 | 121 | 0.0413 | 7 | c.317 others(28): Show |
PCDH7 | ENSG00000169851.16 | transcript | ENST00000695919.1 | protein_coding | 1/2 | chr4 | TogoVar | |||||||
PCDH7_chr4_30715369_31151800 | 30896889 | C | CTTTTTTT | intron_variant | MODIFIER | HG00738.hp1 HG01099.hp1 HG01515.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(7): Show | a0001c0001t0001g0168 a0001c0001t0001g0192 a0001c0001t0001g0195 others(13): Show |
16 | 46 | 0.3478 | 7 | c.317 others(28): Show |
PCDH7 | ENSG00000169851.16 | transcript | ENST00000695919.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCDH7_chr4_30715369_31151800 | 31056458 | G | GAAAAAGA | intron_variant | MODIFIER | HG00140.hp2 HG01952.hp1 HG01975.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0014a0001c0002t0002others(3): Show | a0001c0001t0001g0019 a0001c0001t0014g0169 a0001c0001t0014g0171 others(4): Show |
7 | 130 | 0.0538 | 7 | c.339 others(28): Show |
PCDH7 | ENSG00000169851.16 | transcript | ENST00000695919.1 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCDH7_chr4_30715369_31151800 | 31069362 | G | GTGCCTCA | intron_variant | MODIFIER | HG00738.hp1 HG01192.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0010a0001c0002t0010 | a0001c0001t0010g0188 a0001c0002t0010g0155 |
2 | 214 | 0.0093 | 7 | c.339 others(28): Show |
PCDH7 | ENSG00000169851.16 | transcript | ENST00000695919.1 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCDH7_chr4_30715369_31151800 | 31074755 | A | AGCCTGGG | intron_variant | MODIFIER | HG01109.hp1 HG02647.hp1 HG02647.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0002a0001c0001t0006a0001c0001t0020others(3): Show | a0001c0001t0002g0174 a0001c0001t0006g0118 a0001c0001t0020g0107 others(4): Show |
7 | 214 | 0.0327 | 7 | c.339 others(28): Show |
PCDH7 | ENSG00000169851.16 | transcript | ENST00000695919.1 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCDH7_chr4_30715369_31151800 | 31096928 | T | TGTGTGTG | intron_variant | MODIFIER | HG01099.hp2 HG01192.hp1 HG01496.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0012 | a0001c0001t0006a0001c0001t0011a0001c0002t0011others(1): Show | a0001c0001t0006g0199 a0001c0001t0011g0178 a0001c0001t0011g0184 others(3): Show |
6 | 58 | 0.1034 | 7 | c.339 others(28): Show |
PCDH7 | ENSG00000169851.16 | transcript | ENST00000695919.1 | protein_coding | 2/2 | chr4 | TogoVar | |||||||
PCDH7_chr4_30715369_31151800 | 31097638 | A | ATAAAATC | intron_variant | MODIFIER | HG02155.hp2 HG02615.hp2 HG02647.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0020others(2): Show | a0001c0001t0001g0014 a0001c0001t0001g0120 a0001c0001t0003g0053 others(4): Show |
7 | 57 | 0.1228 | 7 | c.339 others(28): Show |
PCDH7 | ENSG00000169851.16 | transcript | ENST00000695919.1 | protein_coding | 2/2 | chr4 | TogoVar | |||||||
PCDH7_chr4_30715369_31151800 | 31097638 | A | ATATAATC | intron_variant | MODIFIER | HG02071.hp2 HG02698.hp1 HG03831.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0017others(2): Show | a0001c0001t0001g0051 a0001c0001t0005g0045 a0001c0001t0017g0072 others(2): Show |
5 | 55 | 0.0909 | 7 | c.339 others(28): Show |
PCDH7 | ENSG00000169851.16 | transcript | ENST00000695919.1 | protein_coding | 2/2 | chr4 | TogoVar | |||||||
PCDH9_chr13_66297834_67235336 | 66437404 | C | CAAAAAAA | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG01261.hp2 others(10): Show |
a0001a0004a0006 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0002others(6): Show | a0001c0001t0001g0051 a0001c0001t0005g0071 a0001c0002t0002g0011 others(10): Show |
13 | 15 | 0.8667 | 7 | c.334 others(30): Show |
PCDH9 | ENSG00000184226.15 | transcript | ENST00000377865.7 | protein_coding | 4/4 | chr13 | TogoVar |