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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CNTN5_chr11_99015949_100363885 | 100258626 | C | CCAACATT | intron_variant | MODIFIER | HG00733.hp1 HG00735.hp2 HG00738.hp2 others(7): Show |
a0001a0003a0005others(1): Show | a0001c0001a0003c0003a0005c0004others(1): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0011others(4): Show | a0001c0001t0001g0052 a0001c0001t0009g0063 a0001c0001t0011g0062 others(7): Show |
10 | 66 | 0.1515 | 7 | c.216 others(26): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CNTN6_chr3_1088024_1409217 | 1245221 | T | TATATAAC | intron_variant | MODIFIER | HG01884.hp1 HG01993.hp2 HG02027.hp1 others(3): Show |
a0001 | a0001c0005a0001c0008 | a0001c0005t0001a0001c0008t0001 | a0001c0005t0001g0015 a0001c0005t0001g0088 a0001c0005t0001g0180 others(3): Show |
6 | 216 | 0.0278 | 7 | c.358 others(26): Show |
CNTN6 | ENSG00000134115.13 | transcript | ENST00000446702.7 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CNTN6_chr3_1088024_1409217 | 1245223 | T | TATATAAC | intron_variant | MODIFIER | HG01123.hp2 HG01496.hp1 |
a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0125 a0001c0008t0001g0169 |
2 | 176 | 0.0114 | 7 | c.358 others(26): Show |
CNTN6 | ENSG00000134115.13 | transcript | ENST00000446702.7 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CNTN6_chr3_1088024_1409217 | 1245242 | A | ATATATAT | intron_variant | MODIFIER | HG03209.hp1 NA19030.hp2 |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0112 a0001c0006t0001g0162 |
2 | 217 | 0.0092 | 7 | c.358 others(26): Show |
CNTN6 | ENSG00000134115.13 | transcript | ENST00000446702.7 | protein_coding | 4/22 | chr3 | TogoVar | |||||||
CNTN6_chr3_1088024_1409217 | 1245266 | T | TATATAAC | intron_variant | MODIFIER | HG02809.hp2 HG03139.hp1 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0005 a0001c0005t0001g0182 |
2 | 206 | 0.0097 | 7 | c.358 others(26): Show |
CNTN6 | ENSG00000134115.13 | transcript | ENST00000446702.7 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CNTN6_chr3_1088024_1409217 | 1245301 | T | TATATAAC | intron_variant | MODIFIER | HG00639.hp1 HG01175.hp1 HG01255.hp2 others(21): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(9): Show | a0001c0001t0001g0013 a0001c0001t0001g0030 a0001c0001t0001g0079 others(21): Show |
24 | 223 | 0.1076 | 7 | c.358 others(26): Show |
CNTN6 | ENSG00000134115.13 | transcript | ENST00000446702.7 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CNTN6_chr3_1088024_1409217 | 1265044 | C | CTTTTTTT | intron_variant | MODIFIER | HG00639.hp2 HG00733.hp2 HG00735.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0001g0049 a0001c0002t0001g0039 a0001c0002t0001g0047 others(4): Show |
7 | 60 | 0.1167 | 7 | c.359 others(26): Show |
CNTN6 | ENSG00000134115.13 | transcript | ENST00000446702.7 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CNTN6_chr3_1088024_1409217 | 1277346 | C | CTTTTCTT | intron_variant | MODIFIER | HG00741.hp1 NA18612.hp2 NA18951.hp1 others(2): Show |
a0001 | a0001c0002a0001c0004a0001c0007 | a0001c0002t0001a0001c0004t0001a0001c0007t0001 | a0001c0002t0001g0068 a0001c0004t0001g0026 a0001c0004t0001g0052 others(2): Show |
5 | 6 | 0.8333 | 7 | c.359 others(24): Show |
CNTN6 | ENSG00000134115.13 | transcript | ENST00000446702.7 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CNTN6_chr3_1088024_1409217 | 1277346 | C | CTTTTTTT | intron_variant | MODIFIER | HG02027.hp2 HG02040.hp1 HG02155.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(2): Show | a0001c0001t0001g0141 a0001c0001t0001g0171 a0001c0002t0001g0059 others(13): Show |
16 | 17 | 0.9412 | 7 | c.359 others(24): Show |
CNTN6 | ENSG00000134115.13 | transcript | ENST00000446702.7 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CNTN6_chr3_1088024_1409217 | 1280459 | A | ATTTTTTT | intron_variant | MODIFIER | HG02074.hp2 HG02148.hp2 HG02622.hp1 others(3): Show |
a0001 | a0001c0002a0001c0003a0001c0005others(1): Show | a0001c0002t0001a0001c0003t0001a0001c0005t0001others(1): Show | a0001c0002t0001g0174 a0001c0002t0001g0176 a0001c0003t0001g0115 others(3): Show |
6 | 46 | 0.1304 | 7 | c.454 others(24): Show |
CNTN6 | ENSG00000134115.13 | transcript | ENST00000446702.7 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CNTN6_chr3_1088024_1409217 | 1336896 | G | GGGAAAGT | intron_variant | MODIFIER | HG01884.hp2 HG01952.hp2 HG02486.hp2 others(11): Show |
a0001a0002 | a0001c0002a0001c0005a0001c0006others(4): Show | a0001c0002t0004a0001c0005t0001a0001c0006t0001others(4): Show | a0001c0002t0004g0228 a0001c0005t0001g0182 a0001c0005t0001g0188 others(11): Show |
14 | 230 | 0.0609 | 7 | c.136 others(26): Show |
CNTN6 | ENSG00000134115.13 | transcript | ENST00000446702.7 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CNTNAP1_chr17_42677531_42704993 | 42686469 | G | GTTTTTTT | intron_variant | MODIFIER | HG01167.hp1 HG01192.hp2 HG01952.hp1 others(21): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0026others(1): Show | a0001c0001t0002a0001c0005t0002a0001c0026t0008others(1): Show | a0001c0001t0002g0006 a0001c0001t0002g0025 a0001c0001t0002g0038 others(13): Show |
24 | 204 | 0.1176 | 7 | c.900 others(22): Show |
CNTNAP1 | ENSG00000108797.12 | transcript | ENST00000264638.9 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 146352750 | G | GTTTTTTT | intron_variant | MODIFIER | HG02630.hp2 HG02922.hp2 HG02976.hp1 |
a0001 | a0001c0002a0001c0004a0001c0015 | a0001c0002t0002a0001c0004t0005a0001c0015t0001 | a0001c0002t0002g0013 a0001c0004t0005g0004 a0001c0015t0001g0011 |
3 | 12 | 0.2500 | 7 | c.97+ others(26): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 146417949 | T | TGCACAAG | intron_variant | MODIFIER | HG00735.hp2 HG01891.hp1 HG01891.hp2 others(30): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(26): Show | a0001c0001t0001g0003 a0001c0001t0001g0038 a0001c0001t0002g0006 others(30): Show |
33 | 40 | 0.8250 | 7 | c.97+ others(26): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 1/23 | chr7 | TogoVar | |||||||
CNTNAP2_chr7_146111801_148425998 | 146456782 | T | TGTCTATA | intron_variant | MODIFIER | HG02451.hp2 HG02886.hp1 HG03225.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0018others(1): Show | a0001c0001t0002a0001c0003t0013a0001c0018t0002others(1): Show | a0001c0001t0002g0006 a0001c0003t0013g0010 a0001c0018t0002g0012 others(1): Show |
4 | 40 | 0.1000 | 7 | c.98- others(26): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 146535271 | T | TAATATAA | intron_variant | MODIFIER | HG02486.hp2 HG03098.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0011 | a0001c0002t0001g0021 a0001c0003t0011g0023 |
2 | 37 | 0.0541 | 7 | c.98- others(26): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 1/23 | chr7 | TogoVar | |||||||
CNTNAP2_chr7_146111801_148425998 | 146633832 | G | GAAAAAAA | intron_variant | MODIFIER | HG02486.hp2 HG02717.hp1 HG02717.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0018a0001c0003t0011a0001c0005t0008others(2): Show | a0001c0001t0018g0001 a0001c0003t0011g0023 a0001c0005t0008g0005 others(2): Show |
5 | 9 | 0.5556 | 7 | c.98- others(26): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 146684639 | C | CAAAAAAA | intron_variant | MODIFIER | HG02717.hp1 HG03239.hp1 HG03239.hp2 others(1): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0002c0017others(1): Show | a0001c0001t0018a0001c0002t0002a0002c0017t0015others(1): Show | a0001c0001t0018g0001 a0001c0002t0002g0040 a0002c0017t0015g0037 others(1): Show |
4 | 11 | 0.3636 | 7 | c.98- others(24): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 146717021 | A | AACTGGTT | intron_variant | MODIFIER | HG02630.hp1 HG02896.hp2 HG02897.hp2 others(1): Show |
a0001 | a0001c0004a0001c0012 | a0001c0004t0003a0001c0004t0005a0001c0012t0004 | a0001c0004t0003g0035 a0001c0004t0003g0036 a0001c0004t0005g0004 others(1): Show |
4 | 40 | 0.1000 | 7 | c.98- others(24): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 1/23 | chr7 | TogoVar | |||||||
CNTNAP2_chr7_146111801_148425998 | 146748143 | C | CTTTTCTT | intron_variant | MODIFIER | HG02896.hp1 HG03239.hp1 HG03540.hp1 |
a0001a0004a0005 | a0001c0002a0004c0020a0005c0007 | a0001c0002t0010a0004c0020t0005a0005c0007t0017 | a0001c0002t0010g0002 a0004c0020t0005g0016 a0005c0007t0017g0031 |
3 | 14 | 0.2143 | 7 | c.98- others(24): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 146760409 | C | CTTTTTTT | intron_variant | MODIFIER | HG01891.hp1 HG02630.hp2 HG02896.hp1 |
a0001a0003a0004 | a0001c0002a0003c0014a0004c0020 | a0001c0002t0002a0003c0014t0021a0004c0020t0005 | a0001c0002t0002g0013 a0003c0014t0021g0022 a0004c0020t0005g0016 |
3 | 6 | 0.5000 | 7 | c.98- others(24): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 147025440 | A | AGGGGAGG | intron_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG02717.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0007a0001c0001t0018a0001c0002t0001others(9): Show | a0001c0001t0007g0018 a0001c0001t0018g0001 a0001c0002t0001g0008 others(9): Show |
12 | 25 | 0.4800 | 7 | c.403 others(26): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 147073222 | A | ATGTATTT | intron_variant | MODIFIER | HG00735.hp2 HG02451.hp1 HG02630.hp1 others(8): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0018others(8): Show | a0001c0001t0001g0003 a0001c0001t0012g0034 a0001c0001t0018g0001 others(8): Show |
11 | 40 | 0.2750 | 7 | c.550 others(26): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 147198232 | C | CTTTTTTT | intron_variant | MODIFIER | HG02486.hp2 HG02896.hp1 HG03139.hp1 |
a0001a0004 | a0001c0003a0001c0008a0004c0020 | a0001c0003t0011a0001c0008t0001a0004c0020t0005 | a0001c0003t0011g0023 a0001c0008t0001g0025 a0004c0020t0005g0016 |
3 | 24 | 0.1250 | 7 | c.134 others(28): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 147242987 | A | ATTTTTTT | intron_variant | MODIFIER | HG02630.hp2 HG02886.hp2 HG02922.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0007a0001c0002t0002a0001c0004t0005others(2): Show | a0001c0001t0007g0018 a0001c0002t0002g0013 a0001c0002t0002g0040 others(3): Show |
6 | 7 | 0.8571 | 7 | c.134 others(28): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 147469506 | A | ATTTTTTT | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 HG03139.hp1 |
a0001 | a0001c0004a0001c0008 | a0001c0004t0003a0001c0008t0001 | a0001c0004t0003g0035 a0001c0004t0003g0036 a0001c0008t0001g0025 |
3 | 24 | 0.1250 | 7 | c.167 others(28): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 10/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 147636424 | C | CTTTTTTG | intron_variant | MODIFIER | HG02717.hp2 HG02886.hp2 NA19030.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0008a0001c0005t0022 | a0001c0001t0001g0038 a0001c0005t0008g0005 a0001c0005t0022g0032 |
3 | 40 | 0.0750 | 7 | c.189 others(26): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 147924143 | C | CTTTTTTT | intron_variant | MODIFIER | HG01891.hp1 HG02451.hp1 HG02451.hp2 others(23): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(23): Show | a0001c0001t0001g0003 a0001c0001t0002g0006 a0001c0001t0007g0020 others(23): Show |
26 | 27 | 0.9630 | 7 | c.225 others(28): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 148296545 | C | CAAAAAAA | intron_variant | MODIFIER | HG02630.hp1 HG03139.hp1 HG03139.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0008a0001c0011others(2): Show | a0001c0001t0001a0001c0008t0001a0001c0011t0016others(2): Show | a0001c0001t0001g0038 a0001c0008t0001g0025 a0001c0011t0016g0019 others(2): Show |
5 | 9 | 0.5556 | 7 | c.347 others(28): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 148328976 | G | GAAAAAAA | intron_variant | MODIFIER | HG00735.hp2 HG02630.hp1 HG02886.hp1 others(5): Show |
a0001 | a0001c0003a0001c0004a0001c0005others(4): Show | a0001c0003t0013a0001c0004t0003a0001c0005t0022others(4): Show | a0001c0003t0013g0010 a0001c0004t0003g0035 a0001c0004t0003g0036 others(5): Show |
8 | 12 | 0.6667 | 7 | c.347 others(28): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP4_chr16_76272401_76565757 | 76499703 | G | GCCGCCTT | intron_variant | MODIFIER | NA18612.hp2 NA18962.hp2 NA19063.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0004 | a0001c0001t0001g0232 a0002c0002t0004g0252 a0002c0002t0004g0253 |
3 | 272 | 0.0110 | 7 | c.236 others(26): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 15/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124188716 | C | CAAAAAAA | intron_variant | MODIFIER | HG02723.hp2 HG03225.hp1 HG03471.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0007a0001c0002t0002others(2): Show | a0001c0001t0002g0022 a0001c0001t0007g0025 a0001c0002t0002g0030 others(2): Show |
5 | 31 | 0.1613 | 7 | c.83- others(24): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124349874 | C | CTTTTTTT | intron_variant | MODIFIER | HG02451.hp1 HG02922.hp1 HG03225.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(1): Show | a0001c0002t0001g0046 a0001c0002t0002g0031 a0001c0002t0004g0044 others(2): Show |
5 | 8 | 0.6250 | 7 | c.382 others(26): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124379622 | G | GCAAGTTT | intron_variant | MODIFIER | HG02293.hp1 HG02717.hp2 HG03486.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0018a0001c0002t0008 | a0001c0001t0002g0050 a0001c0001t0018g0021 a0001c0002t0008g0058 |
3 | 62 | 0.0484 | 7 | c.382 others(26): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124451051 | A | AAAAAAAT | intron_variant | MODIFIER | HG00423.hp1 HG01261.hp1 HG02698.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0020 a0001c0001t0002g0019 a0001c0001t0002g0049 others(1): Show |
4 | 21 | 0.1905 | 7 | c.918 others(24): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124565538 | G | GAATAACA | intron_variant | MODIFIER | HG02145.hp1 HG02886.hp1 HG02922.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(3): Show | a0001c0001t0001g0033 a0001c0001t0003g0006 a0001c0002t0001g0053 others(4): Show |
7 | 62 | 0.1129 | 7 | c.175 others(26): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 11/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124629936 | C | CAAAAAAA | intron_variant | MODIFIER | HG01069.hp2 HG01070.hp1 HG02451.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0002a0001c0001t0004a0001c0001t0015others(4): Show | a0001c0001t0002g0043 a0001c0001t0004g0052 a0001c0001t0015g0037 others(5): Show |
8 | 25 | 0.3200 | 7 | c.187 others(28): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COA1_chr7_43634257_43734523 | 43644710 | T | TTAGATGA | intron_variant | MODIFIER | HG01433.hp1 HG02451.hp2 HG02818.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0237 |
3 | 288 | 0.0104 | 7 | c.264 others(22): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 4/5 | chr7 | TogoVar | |||||||
COA1_chr7_43634257_43734523 | 43691272 | A | AAGAAAAG | intron_variant | MODIFIER | HG01070.hp1 HG01074.hp1 HG01255.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 a0001c0001t0001g0164 a0001c0001t0001g0168 others(23): Show |
26 | 377 | 0.0690 | 7 | c.-39 others(26): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | |||||||
COA8_chr14_103557960_103595896 | 103582737 | C | CTTTTTTT | intron_variant | MODIFIER | HG01099.hp2 HG01167.hp2 HG01169.hp2 others(33): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0010a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0199 others(33): Show |
36 | 169 | 0.2130 | 7 | c.386 others(24): Show |
COA8 | ENSG00000256053.9 | transcript | ENST00000409074.8 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
COA8_chr14_103557960_103595896 | 103586200 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(44): Show |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0001a0001c0003t0001a0001c0006t0001 | a0001c0001t0001g0283 a0001c0001t0001g0286 a0001c0001t0001g0306 others(32): Show |
47 | 266 | 0.1767 | 7 | c.386 others(24): Show |
COA8 | ENSG00000256053.9 | transcript | ENST00000409074.8 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
COBL_chr7_51011212_51321809 | 51018891 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG03540.hp1 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0009a0001c0019a0001c0047others(5): Show | a0001c0009t0001a0001c0019t0001a0001c0047t0001others(5): Show | a0001c0009t0001g0056 a0001c0019t0001g0032 a0001c0047t0001g0216 others(6): Show |
9 | 153 | 0.0588 | 7 | c.376 others(26): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 12/12 | chr7 | TogoVar | |||||||
COBL_chr7_51011212_51321809 | 51206491 | C | CAAAAAAA | intron_variant | MODIFIER | HG02257.hp1 HG02280.hp1 HG02630.hp2 others(6): Show |
a0001a0002a0024 | a0001c0005a0001c0008a0001c0010others(4): Show | a0001c0005t0008a0001c0008t0002a0001c0010t0005others(6): Show | a0001c0005t0008g0166 a0001c0008t0002g0162 a0001c0010t0005g0163 others(6): Show |
9 | 199 | 0.0452 | 7 | c.246 others(26): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 2/12 | chr7 | TogoVar | |||||||
COG2_chr1_230637481_230698982 | 230653923 | C | CCTCATGA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00597.hp2 others(38): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0002others(1): Show | a0001c0001t0001a0001c0008t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0100 a0001c0008t0001g0278 a0001c0008t0001g0279 others(27): Show |
41 | 404 | 0.1015 | 7 | c.73- others(22): Show |
COG2 | ENSG00000135775.14 | transcript | ENST00000366669.9 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
COG3_chr13_45459939_45541701 | 45486289 | T | TCGGGAGA | intron_variant | MODIFIER | HG01257.hp1 HG01261.hp1 HG03669.hp1 others(2): Show |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0011 a0002c0004t0001g0029 a0002c0004t0001g0030 others(2): Show |
5 | 247 | 0.0202 | 7 | c.844 others(22): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG3_chr13_45459939_45541701 | 45489262 | C | CAAAAAAA | intron_variant | MODIFIER | HG01109.hp2 HG01192.hp1 HG02257.hp1 others(9): Show |
a0002 | a0002c0003a0002c0005a0002c0007 | a0002c0003t0002a0002c0005t0014a0002c0007t0002 | a0002c0003t0002g0202 a0002c0003t0002g0208 a0002c0003t0002g0209 others(9): Show |
12 | 15 | 0.8000 | 7 | c.925 others(24): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG3_chr13_45459939_45541701 | 45525634 | G | GTTTTTTT | intron_variant | MODIFIER | HG00738.hp1 HG01074.hp2 HG01934.hp2 others(5): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0001c0002t0007a0002c0003t0002 | a0001c0002t0001g0249 a0001c0002t0007g0304 a0002c0003t0002g0217 others(5): Show |
8 | 25 | 0.3200 | 7 | c.223 others(24): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG3_chr13_45459939_45541701 | 45526076 | A | ATTTTTTT | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG02630.hp2 others(5): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0003c0006t0004a0003c0006t0015 | a0001c0001t0001g0041 a0001c0001t0001g0059 a0001c0001t0001g0082 others(5): Show |
8 | 18 | 0.4444 | 7 | c.223 others(26): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG3_chr13_45459939_45541701 | 45529443 | A | ACTAGTGT | intron_variant | MODIFIER | HG02257.hp2 HG02451.hp1 HG02970.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 |
3 | 340 | 0.0088 | 7 | c.223 others(24): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG4_chr16_70475571_70528554 | 70506593 | C | CAAAAAAA | intron_variant | MODIFIER | HG00642.hp1 HG02258.hp1 HG02486.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0161 a0001c0003t0001g0126 a0001c0003t0001g0127 others(4): Show |
7 | 106 | 0.0660 | 7 | c.106 others(26): Show |
COG4 | ENSG00000103051.21 | transcript | ENST00000323786.10 | protein_coding | 8/18 | chr16 | TogoVar |