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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PCDH15_chr10_53797771_54806231 | 54796266 | CTATCTAT others(1): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG02486.hp2 HG03225.hp1 |
a0001a0003a0024 | a0001c0001a0003c0003a0024c0029 | a0001c0001t0001a0003c0003t0004a0024c0029t0011 | a0001c0001t0001g0089a0003c0003t0004g0088a0024c0029t0011g0099 | 3 | 102 | 0.0294 | -8 | c.-29 others(25): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 1/37 | chr10 | TogoVar | ||||||
PCDH15_chr10_53797771_54806231 | 54797507 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG01175.hp1 HG01884.hp2 HG02602.hp2 others(9): Show |
a0003a0004a0005others(5): Show | a0003c0003a0004c0004a0005c0005others(5): Show | a0003c0003t0003a0003c0003t0006a0003c0003t0019others(9): Show | a0003c0003t0003g0056a0003c0003t0006g0051a0003c0003t0019g0060others(9): Show | 12 | 102 | 0.1177 | -8 | c.-29 others(25): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 1/37 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 53837955 | ATTATTTA others(1): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG00741.hp2 HG01069.hp1 others(16): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0007a0002c0002others(11): Show | a0001c0001t0001a0001c0007t0001a0002c0002t0001others(12): Show | a0001c0001t0001g0010a0001c0001t0001g0015a0001c0007t0001g0090others(16): Show | 19 | 94 | 0.2021 | -8 | c.398 others(27): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 29/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 53851671 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG01261.hp2 HG03098.hp1 others(2): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0029others(2): Show | a0001c0001t0001a0002c0002t0002a0002c0029t0001others(2): Show | a0001c0001t0001g0010a0002c0002t0002g0019a0002c0029t0001g0024others(2): Show | 5 | 94 | 0.0532 | -8 | c.380 others(27): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 28/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 53878215 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG02145.hp2 HG03041.hp1 others(4): Show |
a0001a0002a0003others(2): Show | a0001c0007a0002c0029a0003c0003others(3): Show | a0001c0007t0001a0002c0029t0001a0003c0003t0002others(3): Show | a0001c0007t0001g0090a0002c0029t0001g0024a0003c0003t0002g0005others(4): Show | 7 | 94 | 0.0745 | -8 | c.350 others(29): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 26/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 53918713 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG01069.hp2 HG02145.hp1 HG03209.hp2 others(2): Show |
a0002a0003a0006others(2): Show | a0002c0002a0003c0005a0006c0008others(2): Show | a0002c0002t0001a0003c0005t0001a0006c0008t0001others(2): Show | a0002c0002t0001g0052a0003c0005t0001g0076a0006c0008t0001g0027others(2): Show | 5 | 94 | 0.0532 | -8 | c.337 others(29): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 25/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 53945837 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | NA19088.hp1 NA20905.hp1 |
a0003a0006 | a0003c0024a0006c0008 | a0003c0024t0001a0006c0008t0001 | a0003c0024t0001g0049a0006c0008t0001g0053 | 2 | 94 | 0.0213 | -8 | c.312 others(27): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 23/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 54098190 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG03130.hp2 HG03486.hp1 |
a0027a0031 | a0027c0027a0031c0032 | a0027c0027t0008a0031c0032t0001 | a0027c0027t0008g0039a0031c0032t0001g0072 | 2 | 94 | 0.0213 | -8 | c.191 others(27): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 15/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 54105277 | GATATATA others(1): Show |
G | intron_variant | MODIFIER | HG02280.hp1 HG03225.hp1 HG03579.hp2 others(3): Show |
a0001a0002a0006others(2): Show | a0001c0001a0002c0002a0006c0008others(2): Show | a0001c0001t0001a0002c0002t0009a0006c0008t0001others(2): Show | a0001c0001t0001g0015a0001c0001t0001g0081a0002c0002t0009g0031others(3): Show | 6 | 94 | 0.0638 | -8 | c.191 others(29): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 15/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 54189918 | CATGTGTA others(1): Show |
C | intron_variant | MODIFIER | HG02486.hp2 HG03471.hp2 |
a0005a0020 | a0005c0009a0020c0037 | a0005c0009t0002a0020c0037t0001 | a0005c0009t0002g0070a0020c0037t0001g0091 | 2 | 94 | 0.0213 | -8 | c.130 others(27): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 11/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 54189919 | ATGTGTAT others(1): Show |
A | intron_variant | MODIFIER | HG03041.hp1 HG03225.hp2 |
a0001a0017 | a0001c0007a0017c0033 | a0001c0007t0001a0017c0033t0001 | a0001c0007t0001g0090a0017c0033t0001g0073 | 2 | 94 | 0.0213 | -8 | c.130 others(27): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 11/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 54192150 | AAGAAAAA others(1): Show |
A | intron_variant | MODIFIER | HG01261.hp2 HG03579.hp1 |
a0007a0016 | a0007c0019a0016c0043 | a0007c0019t0001a0016c0043t0004 | a0007c0019t0001g0045a0016c0043t0004g0058 | 2 | 94 | 0.0213 | -8 | c.130 others(27): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 11/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 54194650 | CTCTATCT others(1): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG01243.hp2 HG01884.hp2 others(11): Show |
a0002a0003a0017others(3): Show | a0002c0002a0003c0003a0003c0005others(4): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0010others(6): Show | a0002c0002t0001g0052a0002c0002t0001g0063a0002c0002t0002g0019others(11): Show | 14 | 94 | 0.1489 | -8 | c.130 others(27): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 11/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 54207370 | GTGTGTGT others(1): Show |
G | intron_variant | MODIFIER | HG00741.hp2 HG01081.hp1 HG01243.hp1 others(14): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0007a0002c0002others(5): Show | a0001c0001t0001a0001c0007t0001a0002c0002t0001others(8): Show | a0001c0001t0001g0041a0001c0001t0001g0081a0001c0001t0001g0082others(14): Show | 17 | 94 | 0.1809 | -8 | c.109 others(27): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 10/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 54220825 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG01175.hp2 HG01934.hp2 HG02027.hp1 others(8): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0002c0006others(7): Show | a0001c0001t0001a0002c0002t0001a0002c0006t0001others(7): Show | a0001c0001t0001g0010a0002c0002t0001g0034a0002c0006t0001g0016others(8): Show | 11 | 94 | 0.1170 | -8 | c.986 others(25): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 9/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 54234132 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG02145.hp2 HG02965.hp1 others(3): Show |
a0002a0003a0014others(1): Show | a0002c0029a0003c0003a0003c0025others(2): Show | a0002c0029t0001a0003c0003t0001a0003c0003t0002others(3): Show | a0002c0029t0001g0024a0003c0003t0001g0017a0003c0003t0002g0080others(3): Show | 6 | 94 | 0.0638 | -8 | c.985 others(25): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 9/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 54242128 | TTTTATAT others(1): Show |
T | intron_variant | MODIFIER | HG01069.hp2 HG02965.hp2 HG03139.hp1 others(1): Show |
a0002a0003a0004others(1): Show | a0002c0002a0003c0003a0004c0004others(1): Show | a0002c0002t0002a0003c0003t0001a0004c0004t0001others(1): Show | a0002c0002t0002g0019a0003c0003t0001g0030a0004c0004t0001g0048others(1): Show | 4 | 94 | 0.0426 | -8 | c.877 others(25): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 8/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 54242130 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | HG00738.hp2 HG02486.hp1 NA18945.hp1 others(1): Show |
a0001a0004a0030 | a0001c0001a0004c0004a0030c0028 | a0001c0001t0001a0004c0004t0001a0030c0028t0001 | a0001c0001t0001g0015a0001c0001t0001g0036a0004c0004t0001g0023others(1): Show | 4 | 94 | 0.0426 | -8 | c.877 others(25): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 8/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 54242183 | TATATACA others(1): Show |
T | intron_variant | MODIFIER | HG02486.hp2 HG03471.hp2 |
a0005a0020 | a0005c0009a0020c0037 | a0005c0009t0002a0020c0037t0001 | a0005c0009t0002g0070a0020c0037t0001g0091 | 2 | 94 | 0.0213 | -8 | c.877 others(25): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 8/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 54247955 | TATATACA others(1): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG02622.hp1 HG02922.hp1 others(1): Show |
a0001a0008a0017 | a0001c0001a0001c0007a0008c0015others(1): Show | a0001c0001t0001a0001c0007t0001a0008c0015t0001others(1): Show | a0001c0001t0001g0082a0001c0007t0001g0079a0008c0015t0001g0032others(1): Show | 4 | 94 | 0.0426 | -8 | c.877 others(27): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 8/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 54257049 | TTAGATAG others(1): Show |
T | intron_variant | MODIFIER | HG01069.hp2 NA19043.hp1 |
a0002a0010 | a0002c0002a0010c0010 | a0002c0002t0009a0010c0010t0003 | a0002c0002t0009g0031a0010c0010t0003g0061 | 2 | 94 | 0.0213 | -8 | c.877 others(27): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 8/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 54274616 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG02486.hp1 others(1): Show |
a0003a0006a0028others(1): Show | a0003c0005a0006c0008a0028c0031others(1): Show | a0003c0005t0001a0006c0008t0001a0028c0031t0001others(1): Show | a0003c0005t0001g0075a0006c0008t0001g0027a0028c0031t0001g0051others(1): Show | 4 | 94 | 0.0426 | -8 | c.877 others(27): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 8/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 54307104 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG00741.hp1 HG06807.hp2 |
a0004a0029 | a0004c0004a0029c0030 | a0004c0004t0001a0029c0030t0001 | a0004c0004t0001g0037a0029c0030t0001g0035 | 2 | 94 | 0.0213 | -8 | c.876 others(27): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 8/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 54309320 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG02922.hp1 HG03098.hp2 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0006a0001c0007t0001g0079 | 2 | 94 | 0.0213 | -8 | c.876 others(25): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 8/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 54314130 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG00738.hp2 HG01069.hp1 others(10): Show |
a0001a0002a0004others(6): Show | a0001c0001a0002c0002a0004c0004others(6): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0009others(7): Show | a0001c0001t0001g0036a0001c0001t0001g0062a0001c0001t0001g0064others(10): Show | 13 | 94 | 0.1383 | -8 | c.876 others(25): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 8/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 54315932 | TTTTTTTT others(1): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG00738.hp2 HG01069.hp1 others(20): Show |
a0001a0002a0003others(10): Show | a0001c0001a0002c0002a0002c0006others(13): Show | a0001c0001t0001a0002c0002t0002a0002c0006t0001others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0036others(20): Show | 23 | 94 | 0.2447 | -8 | c.876 others(25): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 8/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 54334682 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | NA19043.hp1 NA20129.hp1 |
a0002a0012 | a0002c0002a0012c0020 | a0002c0002t0009a0012c0020t0001 | a0002c0002t0009g0031a0012c0020t0001g0025 | 2 | 94 | 0.0213 | -8 | c.595 others(25): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 6/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 54383621 | GTGTGTTT others(1): Show |
G | intron_variant | MODIFIER | HG01192.hp1 HG02145.hp2 HG03041.hp2 others(4): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0045others(4): Show | a0001c0001t0001a0002c0002t0002a0002c0045t0001others(4): Show | a0001c0001t0001g0083a0002c0002t0002g0071a0002c0045t0001g0067others(4): Show | 7 | 94 | 0.0745 | -8 | c.158 others(25): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 3/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 54386100 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG00738.hp1 HG00738.hp2 others(15): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0002c0006others(6): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(8): Show | a0001c0001t0001g0010a0001c0001t0001g0021a0001c0001t0001g0036others(15): Show | 18 | 94 | 0.1915 | -8 | c.158 others(25): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 3/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 54421689 | TATATACA others(1): Show |
T | intron_variant | MODIFIER | HG03471.hp1 HG03471.hp2 HG03486.hp1 |
a0003a0005a0031 | a0003c0005a0005c0009a0031c0032 | a0003c0005t0001a0005c0009t0002a0031c0032t0001 | a0003c0005t0001g0076a0005c0009t0002g0070a0031c0032t0001g0072 | 3 | 94 | 0.0319 | -8 | c.158 others(27): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 3/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 54421691 | TATACACA others(1): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02486.hp1 HG02622.hp1 others(4): Show |
a0001a0003a0004others(4): Show | a0001c0001a0003c0005a0004c0004others(4): Show | a0001c0001t0001a0003c0005t0001a0004c0004t0005others(4): Show | a0001c0001t0001g0014a0003c0005t0001g0020a0004c0004t0005g0029others(4): Show | 7 | 94 | 0.0745 | -8 | c.158 others(27): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 3/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 54425008 | TAAAAAAA others(1): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG01192.hp2 HG02965.hp1 others(4): Show |
a0002a0003a0005others(2): Show | a0002c0006a0003c0003a0003c0005others(3): Show | a0002c0006t0005a0003c0003t0001a0003c0003t0002others(4): Show | a0002c0006t0005g0074a0003c0003t0001g0017a0003c0003t0002g0080others(4): Show | 7 | 94 | 0.0745 | -8 | c.158 others(27): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 3/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 54442414 | CTATATAT others(1): Show |
C | intron_variant | MODIFIER | HG01192.hp1 HG02486.hp1 HG03209.hp2 others(1): Show |
a0001a0003a0006others(1): Show | a0001c0001a0003c0005a0006c0008others(1): Show | a0001c0001t0001a0003c0005t0001a0006c0008t0001others(1): Show | a0001c0001t0001g0083a0003c0005t0001g0020a0006c0008t0001g0027others(1): Show | 4 | 94 | 0.0426 | -8 | c.158 others(27): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 3/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 54512359 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02922.hp2 HG03579.hp2 others(2): Show |
a0001a0002a0013others(1): Show | a0001c0001a0002c0002a0013c0017others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0009others(2): Show | a0001c0001t0001g0014a0002c0002t0001g0052a0002c0002t0009g0031others(2): Show | 5 | 94 | 0.0532 | -8 | c.157 others(27): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 3/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 54576146 | TCTATCTA others(1): Show |
T | intron_variant | MODIFIER | HG01192.hp2 HG01243.hp2 HG02280.hp2 others(2): Show |
a0001a0002a0003 | a0001c0007a0002c0002a0002c0006others(2): Show | a0001c0007t0001a0002c0002t0010a0002c0006t0005others(2): Show | a0001c0007t0001g0079a0002c0002t0010g0060a0002c0006t0005g0074others(2): Show | 5 | 94 | 0.0532 | -8 | c.92- others(25): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 2/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 54577844 | AAATAAAT others(1): Show |
A | intron_variant | MODIFIER | HG01981.hp1 HG02965.hp1 HG03492.hp2 others(2): Show |
a0002a0003a0005others(2): Show | a0002c0002a0003c0003a0005c0009others(2): Show | a0002c0002t0002a0003c0003t0001a0005c0009t0001others(2): Show | a0002c0002t0002g0038a0003c0003t0001g0017a0005c0009t0001g0033others(2): Show | 5 | 94 | 0.0532 | -8 | c.92- others(25): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 2/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 54655256 | AAGAGAGA others(1): Show |
A | intron_variant | MODIFIER | NA19043.hp2 homoSapiens_chm13v2.hp1 |
a0001a0010 | a0001c0001a0010c0010 | a0001c0001t0001a0010c0010t0003 | a0001c0001t0001g0062a0010c0010t0003g0068 | 2 | 94 | 0.0213 | -8 | c.91+ others(23): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 2/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 54655428 | GGTGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG01261.hp2 HG01981.hp1 HG03492.hp2 |
a0007a0011 | a0007c0018a0007c0019a0011c0021 | a0007c0018t0001a0007c0019t0001a0011c0021t0001 | a0007c0018t0001g0046a0007c0019t0001g0045a0011c0021t0001g0066 | 3 | 94 | 0.0319 | -8 | c.91+ others(23): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 2/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 54709603 | TATATATA others(1): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG02258.hp1 HG02615.hp2 others(3): Show |
a0001a0003a0013others(2): Show | a0001c0001a0003c0003a0013c0017others(2): Show | a0001c0001t0001a0003c0003t0002a0013c0017t0001others(2): Show | a0001c0001t0001g0003a0001c0001t0001g0081a0003c0003t0002g0080others(3): Show | 6 | 94 | 0.0638 | -8 | c.-28 others(27): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 1/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 54724247 | GGAACTAG others(1): Show |
G | intron_variant | MODIFIER | HG00642.hp2 HG00738.hp2 HG00741.hp1 others(13): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0007a0002c0002others(9): Show | a0001c0001t0001a0001c0007t0001a0002c0002t0010others(9): Show | a0001c0001t0001g0010a0001c0001t0001g0014a0001c0001t0001g0015others(13): Show | 16 | 94 | 0.1702 | -8 | c.-28 others(27): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 1/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 54724909 | GATATAGA others(1): Show |
G | intron_variant | MODIFIER | HG00735.hp1 HG01261.hp2 HG01981.hp1 others(11): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0003c0003others(8): Show | a0001c0001t0001a0002c0002t0002a0003c0003t0002others(8): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0081others(11): Show | 14 | 94 | 0.1489 | -8 | c.-28 others(27): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 1/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 54726419 | GGTGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG02965.hp2 others(6): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0007a0002c0002others(5): Show | a0001c0001t0001a0001c0007t0001a0002c0002t0002others(6): Show | a0001c0001t0001g0082a0001c0007t0001g0090a0002c0002t0002g0089others(6): Show | 9 | 94 | 0.0957 | -8 | c.-28 others(27): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 1/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 54752484 | AAAAAAAA others(1): Show |
A | intron_variant | MODIFIER | HG00738.hp2 HG00741.hp1 HG01243.hp1 others(8): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0007a0002c0002others(4): Show | a0001c0001t0001a0001c0007t0001a0002c0002t0002others(5): Show | a0001c0001t0001g0010a0001c0001t0001g0036a0001c0001t0001g0082others(8): Show | 11 | 94 | 0.1170 | -8 | c.-29 others(27): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 1/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 54756054 | AAAACACA others(1): Show |
A | intron_variant | MODIFIER | HG01192.hp2 HG03225.hp2 |
a0002a0017 | a0002c0006a0017c0033 | a0002c0006t0005a0017c0033t0001 | a0002c0006t0005g0074a0017c0033t0001g0073 | 2 | 94 | 0.0213 | -8 | c.-29 others(27): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 1/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 54756056 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG03098.hp2 NA19240.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0002 | a0001c0001t0001g0006a0003c0003t0002g0005 | 2 | 94 | 0.0213 | -8 | c.-29 others(27): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 1/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 54796222 | TTATCTAT others(1): Show |
T | intron_variant | MODIFIER | HG01261.hp1 HG02027.hp1 HG02280.hp2 others(2): Show |
a0001a0002a0005others(1): Show | a0001c0007a0002c0002a0002c0006others(2): Show | a0001c0007t0001a0002c0002t0010a0002c0006t0001others(2): Show | a0001c0007t0001g0087a0002c0002t0010g0060a0002c0006t0001g0059others(2): Show | 5 | 94 | 0.0532 | -8 | c.-29 others(25): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 1/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 54796266 | CTATCTAT others(1): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG02486.hp2 HG03225.hp1 |
a0001a0003a0020 | a0001c0001a0003c0003a0020c0037 | a0001c0001t0001a0003c0003t0002a0020c0037t0001 | a0001c0001t0001g0081a0003c0003t0002g0080a0020c0037t0001g0091 | 3 | 94 | 0.0319 | -8 | c.-29 others(25): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 1/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 54797507 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG01175.hp2 HG01884.hp2 HG02602.hp2 others(8): Show |
a0002a0003a0004others(5): Show | a0002c0002a0003c0003a0003c0024others(7): Show | a0002c0002t0001a0003c0003t0001a0003c0024t0001others(7): Show | a0002c0002t0001g0052a0003c0003t0001g0054a0003c0024t0001g0049others(8): Show | 11 | 94 | 0.1170 | -8 | c.-29 others(25): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 1/32 | chr10 | TogoVar | ||||||
PCDH17_chr13_57626744_57734311 | 57629108 | AGTGTGTG others(1): Show |
A | upstream_gene_variant | MODIFIER | HG01069.hp2 HG01081.hp2 HG01099.hp2 others(23): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0103a0001c0001t0001g0129a0001c0001t0001g0146others(23): Show | 26 | 310 | 0.0839 | -8 | c.-34 others(19): Show |
PCDH17 | ENSG00000118946.12 | transcript | ENST00000377918.8 | protein_coding | 2635 | chr13 | TogoVar | ||||||
PCDH17_chr13_57626744_57734311 | 57641558 | GAAAAAAA others(1): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG01975.hp2 HG02055.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0139a0001c0001t0001g0146a0001c0001t0002g0008others(11): Show | 14 | 310 | 0.0452 | -8 | c.256 others(27): Show |
PCDH17 | ENSG00000118946.12 | transcript | ENST00000377918.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |