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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PCCA_chr13_100084093_100535435 | 100440156 | TTATATAT others(13): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG01071.hp1 HG01168.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0025 a0001c0001t0001g0034 a0001c0001t0001g0042 others(14): Show |
17 | 174 | 0.0977 | -20 | c.184 others(39): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PCCA_chr13_100084093_100535435 | 100458420 | CGCGCACA others(13): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02572.hp2 HG03453.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0006 a0001c0001t0001g0036 a0001c0001t0001g0058 others(1): Show |
4 | 174 | 0.0230 | -20 | c.189 others(39): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 21/23 | chr13 | TogoVar | |||||||
PCCA_chr13_100084093_100535435 | 100458440 | TACACACA others(13): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG01071.hp1 HG01099.hp1 others(19): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0009 | a0001c0001t0001a0001c0002t0001a0003c0009t0001 | a0001c0001t0001g0019 a0001c0001t0001g0052 a0001c0001t0001g0067 others(19): Show |
22 | 174 | 0.1264 | -20 | c.189 others(39): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PCCA_chr13_100084093_100535435 | 100488624 | TTTTGTTT others(13): Show |
T | intron_variant | MODIFIER | HG04184.hp1 NA18984.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 a0001c0001t0001g0135 |
2 | 174 | 0.0115 | -20 | c.190 others(41): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PCCB_chr3_136245340_136335169 | 136299510 | GTATGCAT others(13): Show |
G | intron_variant | MODIFIER | HG02109.hp2 HG02922.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0205 |
3 | 300 | 0.0100 | -20 | c.884 others(37): Show |
PCCB | ENSG00000114054.14 | transcript | ENST00000251654.9 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PCCB_chr3_136245340_136335169 | 136299606 | ATATGCAT others(13): Show |
A | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0057 | 1 | 300 | 0.0033 | -20 | c.885 others(37): Show |
PCCB | ENSG00000114054.14 | transcript | ENST00000251654.9 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PCDH11X_chrX_91774375_92628230 | 92148053 | CCTTCCTT others(13): Show |
C | intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0083 | 1 | 154 | 0.0065 | -20 | c.303 others(41): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PCDH11X_chrX_91774375_92628230 | 92148057 | CCTTTCTT others(13): Show |
C | intron_variant | MODIFIER | HG01928.hp1 HG02015.hp1 HG02083.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0042 a0001c0001t0001g0068 a0001c0001t0001g0072 others(9): Show |
12 | 154 | 0.0779 | -20 | c.303 others(41): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PCDH11X_chrX_91774375_92628230 | 92332386 | GTGTGTGC others(13): Show |
G | intron_variant | MODIFIER | HG01099.hp1 NA20129.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0002 | a0001c0001t0001g0153 a0001c0003t0002g0143 |
2 | 154 | 0.0130 | -20 | c.314 others(41): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PCDH11X_chrX_91774375_92628230 | 92499636 | CAAAAAAA others(13): Show |
C | intron_variant | MODIFIER | HG02451.hp1 NA19004.hp1 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0024a0002c0004t0009 | a0001c0001t0024g0014 a0002c0004t0009g0035 |
2 | 154 | 0.0130 | -20 | c.336 others(41): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PCDH11Y_chrY_4995296_5747224 | 5393657 | CAAAAAAA others(13): Show |
C | intron_variant | MODIFIER | HG00673.hp1 HG02027.hp1 HG02735.hp1 others(3): Show |
a0001a0005 | a0001c0001a0005c0004 | a0001c0001t0001a0005c0004t0001 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0037 others(3): Show |
6 | 115 | 0.0522 | -20 | c.285 others(43): Show |
PCDH11Y | ENSG00000099715.15 | transcript | ENST00000698851.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
PCDH11Y_chrY_4995296_5747224 | 5486688 | TATATATA others(13): Show |
T | intron_variant | MODIFIER | HG01074.hp1 HG01109.hp1 HG01192.hp1 others(10): Show |
a0001a0005 | a0001c0001a0001c0006a0005c0004 | a0001c0001t0001a0001c0006t0001a0005c0004t0001 | a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0061 others(10): Show |
13 | 115 | 0.1130 | -20 | c.285 others(41): Show |
PCDH11Y | ENSG00000099715.15 | transcript | ENST00000698851.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
PCDH11Y_chrY_4995296_5747224 | 5486706 | CACATATA others(13): Show |
C | intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 115 | 0.0087 | -20 | c.285 others(41): Show |
PCDH11Y | ENSG00000099715.15 | transcript | ENST00000698851.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
PCDH11Y_chrY_4995296_5747224 | 5541687 | TTTTCTTT others(13): Show |
T | intron_variant | MODIFIER | HG01952.hp1 HG02055.hp1 HG02132.hp1 others(8): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0009a0001c0006t0001 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0035 others(8): Show |
11 | 115 | 0.0957 | -20 | c.305 others(41): Show |
PCDH11Y | ENSG00000099715.15 | transcript | ENST00000698851.1 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
PCDH15_chr10_53797771_54806231 | 53821198 | CAAATCCA others(13): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG02145.hp2 NA19043.hp1 |
a0001a0018 | a0001c0001a0018c0028 | a0001c0001t0014a0018c0028t0004 | a0001c0001t0014g0067 a0001c0001t0014g0074 a0018c0028t0004g0013 |
3 | 102 | 0.0294 | -20 | c.436 others(37): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 32/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53797771_54806231 | 53851671 | AATATATA others(13): Show |
A | intron_variant | MODIFIER | HG03492.hp2 HG03710.hp2 HG03942.hp2 others(2): Show |
a0001a0003a0004others(2): Show | a0001c0042a0003c0003a0004c0004others(2): Show | a0001c0042t0016a0003c0003t0002a0004c0004t0006others(2): Show | a0001c0042t0016g0002 a0003c0003t0002g0020 a0004c0004t0006g0026 others(2): Show |
5 | 102 | 0.0490 | -20 | c.380 others(39): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 28/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53797771_54806231 | 53918713 | AACACACA others(13): Show |
A | intron_variant | MODIFIER | HG02486.hp2 HG02896.hp1 |
a0010a0020 | a0010c0009a0020c0029 | a0010c0009t0011a0020c0029t0011 | a0010c0009t0011g0078 a0020c0029t0011g0099 |
2 | 102 | 0.0196 | -20 | c.337 others(41): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 25/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53797771_54806231 | 53945837 | GTATATAT others(13): Show |
G | intron_variant | MODIFIER | HG01167.hp1 HG01167.hp2 HG01175.hp2 others(2): Show |
a0001a0004a0014others(1): Show | a0001c0001a0004c0004a0014c0033others(1): Show | a0001c0001t0003a0004c0004t0005a0014c0033t0017others(1): Show | a0001c0001t0003g0098 a0004c0004t0005g0024 a0004c0004t0005g0025 others(2): Show |
5 | 102 | 0.0490 | -20 | c.312 others(39): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 23/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53797771_54806231 | 54242128 | TTTTATAT others(13): Show |
T | intron_variant | MODIFIER | HG01934.hp2 HG02027.hp1 HG03710.hp2 others(1): Show |
a0002a0003a0008others(1): Show | a0002c0002a0003c0003a0008c0007others(1): Show | a0002c0002t0002a0003c0003t0006a0008c0007t0002others(1): Show | a0002c0002t0002g0063 a0003c0003t0006g0051 a0008c0007t0002g0011 others(1): Show |
4 | 102 | 0.0392 | -20 | c.877 others(37): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 8/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53797771_54806231 | 54242171 | TATATATA others(13): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG02622.hp2 HG02886.hp1 others(1): Show |
a0001a0022a0023 | a0001c0001a0022c0013a0023c0034 | a0001c0001t0001a0001c0001t0003a0022c0013t0003others(1): Show | a0001c0001t0001g0090 a0001c0001t0003g0087 a0022c0013t0003g0035 others(1): Show |
4 | 102 | 0.0392 | -20 | c.877 others(37): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 8/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53797771_54806231 | 54316529 | TACACACA others(13): Show |
T | intron_variant | MODIFIER | HG02486.hp2 HG02886.hp1 HG02896.hp1 others(5): Show |
a0001a0003a0010others(3): Show | a0001c0001a0003c0003a0010c0009others(3): Show | a0001c0001t0001a0003c0003t0001a0003c0003t0019others(5): Show | a0001c0001t0001g0089 a0003c0003t0001g0084 a0003c0003t0019g0060 others(5): Show |
8 | 102 | 0.0784 | -20 | c.876 others(35): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 8/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53797771_54806231 | 54577842 | CTAAATAA others(13): Show |
C | intron_variant | MODIFIER | HG03471.hp2 NA19043.hp2 |
a0002a0005 | a0002c0002a0005c0005 | a0002c0002t0023a0005c0005t0004 | a0002c0002t0023g0034 a0005c0005t0004g0076 |
2 | 102 | 0.0196 | -20 | c.92- others(37): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 2/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53797771_54806231 | 54774007 | CTTTTTTT others(13): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG02145.hp1 HG02922.hp2 others(6): Show |
a0002a0003a0004others(4): Show | a0002c0002a0003c0003a0004c0004others(4): Show | a0002c0002t0009a0002c0002t0023a0003c0003t0002others(6): Show | a0002c0002t0009g0027 a0002c0002t0023g0034 a0003c0003t0002g0020 others(6): Show |
9 | 102 | 0.0882 | -20 | c.-29 others(39): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 1/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53797771_54806231 | 54796274 | GTATCTAT others(13): Show |
G | intron_variant | MODIFIER | HG03540.hp1 | a0003 | a0003c0003 | a0003c0003t0019 | a0003c0003t0019g0060 | 1 | 102 | 0.0098 | -20 | c.-29 others(37): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 1/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53816099_54806231 | 53821198 | CAAATCCA others(13): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01069.hp2 HG02145.hp1 NA19043.hp2 |
a0007a0013 | a0007c0010a0013c0034 | a0007c0010t0003a0013c0034t0003 | a0007c0010t0003g0061 a0007c0010t0003g0068 a0013c0034t0003g0013 |
3 | 94 | 0.0319 | -20 | c.*64 others(29): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 33/33 | 640 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 53851671 | AATATATA others(13): Show |
A | intron_variant | MODIFIER | HG03492.hp2 HG03710.hp1 HG03942.hp2 others(2): Show |
a0003a0004a0024others(2): Show | a0003c0005a0004c0004a0024c0021others(2): Show | a0003c0005t0001a0004c0004t0001a0024c0021t0001others(2): Show | a0003c0005t0001g0020 a0004c0004t0001g0023 a0024c0021t0001g0066 others(2): Show |
5 | 94 | 0.0532 | -20 | c.380 others(39): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 28/32 | chr10 | TogoVar | |||||||
PCDH15_chr10_53816099_54806231 | 53918713 | AACACACA others(13): Show |
A | intron_variant | MODIFIER | HG02486.hp2 | a0016 | a0016c0037 | a0016c0037t0001 | a0016c0037t0001g0091 | 1 | 94 | 0.0106 | -20 | c.337 others(41): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 25/32 | chr10 | TogoVar | |||||||
PCDH15_chr10_53816099_54806231 | 53945837 | GTATATAT others(13): Show |
G | intron_variant | MODIFIER | HG01175.hp1 HG03041.hp1 HG03209.hp1 |
a0001a0004a0021 | a0001c0007a0004c0004a0021c0011 | a0001c0007t0001a0004c0004t0001a0021c0011t0001 | a0001c0007t0001g0090 a0004c0004t0001g0022 a0021c0011t0001g0078 |
3 | 94 | 0.0319 | -20 | c.312 others(39): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 23/32 | chr10 | TogoVar | |||||||
PCDH15_chr10_53816099_54806231 | 54242128 | TTTTATAT others(13): Show |
T | intron_variant | MODIFIER | HG01934.hp2 HG02027.hp1 HG03710.hp1 others(1): Show |
a0002a0003a0010others(1): Show | a0002c0006a0003c0024a0010c0013others(1): Show | a0002c0006t0001a0003c0024t0001a0010c0013t0001others(1): Show | a0002c0006t0001g0059 a0003c0024t0001g0049 a0010c0013t0001g0011 others(1): Show |
4 | 94 | 0.0426 | -20 | c.877 others(37): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 8/32 | chr10 | TogoVar | |||||||
PCDH15_chr10_53816099_54806231 | 54242171 | TATATATA others(13): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG02622.hp1 HG02922.hp1 |
a0001a0008 | a0001c0001a0001c0007a0008c0015 | a0001c0001t0001a0001c0007t0001a0008c0015t0001 | a0001c0001t0001g0082 a0001c0007t0001g0079 a0008c0015t0001g0032 |
3 | 94 | 0.0319 | -20 | c.877 others(37): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 8/32 | chr10 | TogoVar | |||||||
PCDH15_chr10_53816099_54806231 | 54316529 | TACACACA others(13): Show |
T | intron_variant | MODIFIER | HG02486.hp2 HG03130.hp2 HG03225.hp1 others(3): Show |
a0001a0003a0016others(3): Show | a0001c0001a0003c0005a0016c0037others(3): Show | a0001c0001t0001a0003c0005t0001a0016c0037t0001others(3): Show | a0001c0001t0001g0081 a0003c0005t0001g0076 a0016c0037t0001g0091 others(3): Show |
6 | 94 | 0.0638 | -20 | c.876 others(35): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 8/32 | chr10 | TogoVar | |||||||
PCDH15_chr10_53816099_54806231 | 54577842 | CTAAATAA others(13): Show |
C | intron_variant | MODIFIER | HG03471.hp2 NA19043.hp1 |
a0002a0005 | a0002c0002a0005c0009 | a0002c0002t0009a0005c0009t0002 | a0002c0002t0009g0031 a0005c0009t0002g0070 |
2 | 94 | 0.0213 | -20 | c.92- others(37): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 2/32 | chr10 | TogoVar | |||||||
PCDH15_chr10_53816099_54806231 | 54774007 | CTTTTTTT others(13): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG02145.hp2 HG02922.hp2 others(6): Show |
a0002a0003a0004others(4): Show | a0002c0002a0002c0029a0003c0005others(6): Show | a0002c0002t0009a0002c0029t0001a0003c0005t0001others(6): Show | a0002c0002t0009g0031 a0002c0029t0001g0024 a0003c0005t0001g0020 others(6): Show |
9 | 94 | 0.0957 | -20 | c.-29 others(39): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 1/32 | chr10 | TogoVar | |||||||
PCDH15_chr10_53816099_54806231 | 54796274 | GTATCTAT others(13): Show |
G | intron_variant | MODIFIER | HG03540.hp1 | a0025 | a0025c0026 | a0025c0026t0001 | a0025c0026t0001g0056 | 1 | 94 | 0.0106 | -20 | c.-29 others(37): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 1/32 | chr10 | TogoVar | |||||||
PCDH18_chr4_137513918_137537494 | 137517489 | ATTTATTT others(13): Show |
A | downstream_gene_variant | MODIFIER | HG01070.hp2 HG02602.hp2 HG02895.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0009others(1): Show | a0001c0001t0004a0001c0001t0006a0001c0003t0004others(2): Show | a0001c0001t0004g0006 a0001c0001t0006g0069 a0001c0001t0006g0095 others(5): Show |
8 | 406 | 0.0197 | -20 | c.*35 others(31): Show |
PCDH18 | ENSG00000189184.12 | transcript | ENST00000344876.9 | protein_coding | 1428 | chr4 | TogoVar | |||||||
PCDH19_chrX_100286644_100415273 | 100322833 | GTATATAT others(13): Show |
G | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0114 | 1 | 281 | 0.0036 | -20 | c.284 others(41): Show |
PCDH19 | ENSG00000165194.15 | transcript | ENST00000373034.8 | protein_coding | 5/5 | chrX | TogoVar | |||||||
PCDH19_chrX_100286644_100415273 | 100333158 | GAAGGAAG others(13): Show |
G | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0003 | 1 | 281 | 0.0036 | -20 | c.284 others(39): Show |
PCDH19 | ENSG00000165194.15 | transcript | ENST00000373034.8 | protein_coding | 5/5 | chrX | TogoVar | |||||||
PCDH19_chrX_100286644_100415273 | 100333183 | GAGAAAGA others(13): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG00741.hp2 HG01515.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0006 | a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0005g0033 others(6): Show |
10 | 281 | 0.0356 | -20 | c.284 others(39): Show |
PCDH19 | ENSG00000165194.15 | transcript | ENST00000373034.8 | protein_coding | 5/5 | chrX | TogoVar | |||||||
PCDH19_chrX_100286644_100415273 | 100363685 | ATATTTTA others(13): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00639.hp2 others(40): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0007a0001c0001t0009a0001c0001t0015others(16): Show | a0001c0001t0007g0009 a0001c0001t0007g0013 a0001c0001t0007g0014 others(40): Show |
43 | 281 | 0.1530 | -20 | c.261 others(41): Show |
PCDH19 | ENSG00000165194.15 | transcript | ENST00000373034.8 | protein_coding | 3/5 | chrX | TogoVar | |||||||
PCDH1_chr5_141848090_141883410 | 141856351 | TGGGAGGT others(13): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(288): Show |
a0001a0002a0006others(7): Show | a0001c0001a0001c0002a0001c0007others(16): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0008others(22): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(232): Show |
291 | 384 | 0.7578 | -20 | c.331 others(37): Show |
PCDH1 | ENSG00000156453.14 | transcript | ENST00000287008.8 | protein_coding | 4/4 | chr5 | TogoVar | |||||||
PCDH1_chr5_141848090_141883410 | 141870256 | GTGCACAC others(13): Show |
G | intron_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0304 | 1 | 384 | 0.0026 | -20 | c.41- others(33): Show |
PCDH1 | ENSG00000156453.14 | transcript | ENST00000287008.8 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
PCDH7_chr4_30715369_31151800 | 30824079 | TTTTCTTT others(13): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00738.hp2 HG01109.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(4): Show | a0001c0001t0001g0196 a0001c0001t0006g0088 a0001c0001t0006g0188 others(7): Show |
10 | 214 | 0.0467 | -20 | c.317 others(41): Show |
PCDH7 | ENSG00000169851.16 | transcript | ENST00000695919.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCDH7_chr4_30715369_31151800 | 30894478 | AAAAAAAA others(13): Show |
A | intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0186 | 1 | 214 | 0.0047 | -20 | c.317 others(41): Show |
PCDH7 | ENSG00000169851.16 | transcript | ENST00000695919.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCDH7_chr4_30715369_31151800 | 30894480 | AAAAAAAA others(13): Show |
A | intron_variant | MODIFIER | HG01891.hp1 NA18906.hp1 NA19030.hp2 |
a0001 | a0001c0003 | a0001c0003t0012a0001c0003t0047 | a0001c0003t0012g0003 a0001c0003t0012g0004 a0001c0003t0047g0005 |
3 | 214 | 0.0140 | -20 | c.317 others(41): Show |
PCDH7 | ENSG00000169851.16 | transcript | ENST00000695919.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCDH7_chr4_30715369_31151800 | 30968397 | TATATATA others(13): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp2 HG00642.hp2 others(26): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(10): Show | a0001c0001t0001g0020 a0001c0001t0001g0120 a0001c0001t0001g0168 others(26): Show |
29 | 214 | 0.1355 | -20 | c.339 others(41): Show |
PCDH7 | ENSG00000169851.16 | transcript | ENST00000695919.1 | protein_coding | 2/2 | chr4 | TogoVar | |||||||
PCDH7_chr4_30715369_31151800 | 31079309 | GATATATA others(13): Show |
G | intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0157 | 1 | 214 | 0.0047 | -20 | c.339 others(41): Show |
PCDH7 | ENSG00000169851.16 | transcript | ENST00000695919.1 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCDH7_chr4_30715369_31151800 | 31108369 | TAAAAAAA others(13): Show |
T | intron_variant | MODIFIER | HG02647.hp2 HG06807.hp2 NA18522.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0007 | a0001c0001t0037a0001c0004t0007a0002c0007t0007 | a0001c0001t0037g0074 a0001c0004t0007g0016 a0001c0004t0007g0021 others(1): Show |
4 | 214 | 0.0187 | -20 | c.339 others(41): Show |
PCDH7 | ENSG00000169851.16 | transcript | ENST00000695919.1 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCDH9_chr13_66297834_67235336 | 66682352 | TTATCTAT others(13): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00642.hp2 others(14): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(8): Show | a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0064 others(14): Show |
17 | 80 | 0.2125 | -20 | c.313 others(41): Show |
PCDH9 | ENSG00000184226.15 | transcript | ENST00000377865.7 | protein_coding | 3/4 | chr13 | TogoVar | |||||||
PCDH9_chr13_66297834_67235336 | 66700917 | CATATAAA others(13): Show |
C | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0036 | 1 | 80 | 0.0125 | -20 | c.313 others(41): Show |
PCDH9 | ENSG00000184226.15 | transcript | ENST00000377865.7 | protein_coding | 3/4 | chr13 | TogoVar | |||||||
PCDH9_chr13_66297834_67235336 | 66717474 | AAAAAAAA others(13): Show |
A | intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 80 | 0.0125 | -20 | c.313 others(41): Show |
PCDH9 | ENSG00000184226.15 | transcript | ENST00000377865.7 | protein_coding | 3/4 | chr13 | TogoVar |