| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CNTN4_chr3_2093866_3062959 | 2380288 | AACATTAG others(6): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG01175.hp2 HG01256.hp2 others(4): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0002t0002a0001c0002t0007others(4): Show | a0001c0001t0002g0055a0001c0002t0002g0078a0001c0002t0007g0112others(4): Show | 7 | 116 | 0.0603 | -13 | c.-89 others(32): Show |
CNTN4 | ENSG00000144619.15 | transcript | ENST00000418658.6 | protein_coding | 3/24 | chr3 | TogoVar | ||||||
| CNTN4_chr3_2093866_3062959 | 2659470 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0009 | 1 | 116 | 0.0086 | -13 | c.56- others(30): Show |
CNTN4 | ENSG00000144619.15 | transcript | ENST00000418658.6 | protein_coding | 4/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CNTN4_chr3_2093866_3062959 | 2834898 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0021 | a0001c0021t0002 | a0001c0021t0002g0025 | 1 | 116 | 0.0086 | -13 | c.454 others(32): Show |
CNTN4 | ENSG00000144619.15 | transcript | ENST00000418658.6 | protein_coding | 7/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CNTN4_chr3_2093866_3062959 | 2970078 | GTTGTTGT others(6): Show |
G | intron_variant | MODIFIER | HG00642.hp1 HG01256.hp1 HG01256.hp2 others(6): Show |
a0001a0004 | a0001c0001a0001c0005a0001c0006others(2): Show | a0001c0001t0002a0001c0001t0005a0001c0005t0001others(4): Show | a0001c0001t0002g0055a0001c0001t0005g0018a0001c0001t0005g0019others(6): Show | 9 | 116 | 0.0776 | -13 | c.135 others(34): Show |
CNTN4 | ENSG00000144619.15 | transcript | ENST00000418658.6 | protein_coding | 13/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CNTN4_chr3_2093866_3062959 | 2983213 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG01169.hp1 others(23): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(19): Show | a0001c0001t0001g0049a0001c0001t0001g0099a0001c0001t0002g0028others(23): Show | 26 | 116 | 0.2241 | -13 | c.135 others(32): Show |
CNTN4 | ENSG00000144619.15 | transcript | ENST00000418658.6 | protein_coding | 13/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CNTN5_chr11_99015949_100363885 | 99185792 | TAAAATAA others(6): Show |
T | intron_variant | MODIFIER | HG00733.hp2 HG00735.hp1 HG00735.hp2 others(13): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0004others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0010others(12): Show | a0001c0001t0001g0053a0001c0001t0006g0032a0001c0001t0006g0066others(13): Show | 16 | 66 | 0.2424 | -13 | c.-20 others(36): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| CNTN5_chr11_99015949_100363885 | 99374825 | AATAGAAA others(6): Show |
A | intron_variant | MODIFIER | HG00733.hp1 HG00735.hp1 HG01081.hp2 others(4): Show |
a0001a0003a0006others(1): Show | a0001c0001a0003c0003a0006c0006others(1): Show | a0001c0001t0009a0001c0001t0010a0001c0001t0012others(4): Show | a0001c0001t0009g0063a0001c0001t0010g0047a0001c0001t0012g0018others(4): Show | 7 | 66 | 0.1061 | -13 | c.-71 others(32): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| CNTN5_chr11_99015949_100363885 | 99380779 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0044 | 1 | 66 | 0.0152 | -13 | c.-71 others(32): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| CNTN5_chr11_99015949_100363885 | 99968656 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02976.hp2 HG03130.hp1 |
a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0017a0005c0005t0001g0035 | 2 | 66 | 0.0303 | -13 | c.877 others(32): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 8/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| CNTN5_chr11_99015949_100363885 | 100113417 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02886.hp1 HG02965.hp1 |
a0003a0006 | a0003c0003a0006c0006 | a0003c0003t0002a0006c0006t0011 | a0003c0003t0002g0027a0006c0006t0011g0033 | 2 | 66 | 0.0303 | -13 | c.158 others(34): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 13/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| CNTN5_chr11_99015949_100363885 | 100157845 | TAAATAAA others(6): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG01081.hp2 HG01099.hp1 others(10): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(6): Show | a0001c0001t0001g0052a0001c0001t0001g0053a0001c0001t0001g0054others(10): Show | 13 | 66 | 0.1970 | -13 | c.158 others(34): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 13/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| CNTN5_chr11_99015949_100363885 | 100276527 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0040 | 1 | 66 | 0.0152 | -13 | c.231 others(32): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 18/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| CNTN6_chr3_1088024_1409217 | 1245271 | ATATACAC others(6): Show |
A | intron_variant | MODIFIER | HG02970.hp1 HG03453.hp1 |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0133a0001c0007t0001g0135 | 2 | 232 | 0.0086 | -13 | c.358 others(32): Show |
CNTN6 | ENSG00000134115.13 | transcript | ENST00000446702.7 | protein_coding | 4/22 | chr3 | TogoVar | ||||||
| CNTNAP2_chr7_146111801_148425998 | 146483281 | AAATATAT others(6): Show |
A | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 |
a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0035a0001c0004t0003g0036 | 2 | 40 | 0.0500 | -13 | c.98- others(32): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CNTNAP2_chr7_146111801_148425998 | 146483283 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0004 | 1 | 40 | 0.0250 | -13 | c.98- others(32): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 1/23 | chr7 | TogoVar | ||||||
| CNTNAP2_chr7_146111801_148425998 | 146721290 | ATATTCTA others(6): Show |
A | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0013 | 1 | 40 | 0.0250 | -13 | c.98- others(30): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CNTNAP2_chr7_146111801_148425998 | 146721604 | CATTCTAT others(6): Show |
C | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0002 | 1 | 40 | 0.0250 | -13 | c.98- others(30): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CNTNAP2_chr7_146111801_148425998 | 146875934 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02976.hp1 HG03139.hp1 NA20129.hp2 |
a0001 | a0001c0003a0001c0008a0001c0015 | a0001c0003t0023a0001c0008t0001a0001c0015t0001 | a0001c0003t0023g0030a0001c0008t0001g0025a0001c0015t0001g0011 | 3 | 40 | 0.0750 | -13 | c.402 others(32): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CNTNAP2_chr7_146111801_148425998 | 147025437 | GGGAGGGG others(6): Show |
G | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0010 | a0001c0010t0002 | a0001c0010t0002g0014 | 1 | 40 | 0.0250 | -13 | c.403 others(32): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CNTNAP2_chr7_146111801_148425998 | 147062127 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02717.hp1 HG02922.hp2 HG03139.hp1 others(1): Show |
a0001a0002 | a0001c0002a0001c0004a0001c0008others(1): Show | a0001c0002t0010a0001c0004t0005a0001c0008t0001others(1): Show | a0001c0002t0010g0002a0001c0004t0005g0004a0001c0008t0001g0025others(1): Show | 4 | 40 | 0.1000 | -13 | c.550 others(32): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CNTNAP2_chr7_146111801_148425998 | 147237049 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG02886.hp1 NA18522.hp1 |
a0001 | a0001c0001a0001c0003a0001c0013 | a0001c0001t0002a0001c0003t0013a0001c0013t0003 | a0001c0001t0002g0006a0001c0003t0013g0010a0001c0013t0003g0039 | 3 | 40 | 0.0750 | -13 | c.134 others(34): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CNTNAP2_chr7_146111801_148425998 | 147643107 | TCACACAT others(6): Show |
T | intron_variant | MODIFIER | HG02717.hp2 HG02886.hp2 NA19030.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0008a0001c0005t0022 | a0001c0001t0001g0038a0001c0005t0008g0005a0001c0005t0022g0032 | 3 | 40 | 0.0750 | -13 | c.209 others(32): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 13/23 | chr7 | TogoVar | ||||||
| CNTNAP2_chr7_146111801_148425998 | 148181741 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0003 | a0001c0003t0020 | a0001c0003t0020g0017 | 1 | 40 | 0.0250 | -13 | c.301 others(32): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 18/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CNTNAP2_chr7_146111801_148425998 | 148330204 | GTGGATGG others(6): Show |
G | intron_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG01891.hp2 others(33): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(27): Show | a0001c0001t0001g0003a0001c0001t0001g0038a0001c0001t0002g0006others(33): Show | 36 | 40 | 0.9000 | -13 | c.347 others(34): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CNTNAP2_chr7_146111801_148425998 | 148330559 | AGAGTGGA others(6): Show |
A | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0013 | 1 | 40 | 0.0250 | -13 | c.347 others(34): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CNTNAP2_chr7_146111801_148425998 | 148331152 | AGATGGAA others(6): Show |
A | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0009 | 1 | 40 | 0.0250 | -13 | c.347 others(34): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CNTNAP2_chr7_146111801_148425998 | 148331354 | TGGATGGA others(6): Show |
T | intron_variant | MODIFIER | HG02451.hp1 HG02717.hp1 HG02717.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0012a0001c0002t0001others(8): Show | a0001c0001t0001g0038a0001c0001t0012g0034a0001c0002t0001g0007others(10): Show | 13 | 40 | 0.3250 | -13 | c.347 others(34): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CNTNAP2_chr7_146111801_148425998 | 148394825 | AGCCTTGA others(6): Show |
A | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0013 | 1 | 40 | 0.0250 | -13 | c.371 others(34): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CNTNAP2_chr7_146111801_148425998 | 148407129 | CCAAGGTT others(6): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG01891.hp2 HG02451.hp1 others(19): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0008others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0038a0001c0001t0002g0006others(19): Show | 22 | 40 | 0.5500 | -13 | c.371 others(32): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CNTNAP2_chr7_146111801_148425998 | 148419600 | ATTTTTTT others(6): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0003 | a0001c0003t0020 | a0001c0003t0020g0017 | 1 | 40 | 0.0250 | -13 | c.*39 others(24): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 24/24 | 3987 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||
| CNTNAP3B_chr9_41885536_42134426 | 41937112 | AATTTATT others(6): Show |
A | intron_variant | MODIFIER | HG02559.hp2 NA19090.hp2 |
a0004a0008 | a0004c0004a0008c0006 | a0004c0004t0005a0008c0006t0010 | a0004c0004t0005g0034a0008c0006t0010g0069 | 2 | 108 | 0.0185 | -13 | c.223 others(32): Show |
CNTNAP3B | ENSG00000154529.15 | transcript | ENST00000377561.7 | protein_coding | 14/23 | chr9 | TogoVar | ||||||
| CNTNAP3_chr9_39059710_39293167 | 39238530 | AATAAAAA others(6): Show |
A | intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0004 | a0004c0002 | a0004c0002t0001 | a0004c0002t0001g0003 | 1 | 4 | 0.2500 | -13 | c.390 others(28): Show |
CNTNAP3 | ENSG00000106714.18 | transcript | ENST00000297668.11 | protein_coding | 3/23 | chr9 | TogoVar | ||||||
| CNTNAP4_chr16_76272401_76565757 | 76334102 | AGCACACC others(6): Show |
A | intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0022 | 1 | 274 | 0.0037 | -13 | c.196 others(32): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CNTNAP4_chr16_76272401_76565757 | 76342557 | CCACCTCC others(6): Show |
C | intron_variant | MODIFIER | NA21309.hp2 | a0003 | a0003c0003 | a0003c0003t0007 | a0003c0003t0007g0259 | 1 | 274 | 0.0037 | -13 | c.197 others(32): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CNTNAP4_chr16_76272401_76565757 | 76522693 | TTTCTTTT others(6): Show |
T | intron_variant | MODIFIER | HG01081.hp1 HG02922.hp1 HG03017.hp2 |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0003a0001c0004t0003a0002c0002t0025 | a0001c0001t0003g0235a0001c0004t0003g0156a0002c0002t0025g0203 | 3 | 274 | 0.0110 | -13 | c.275 others(30): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 17/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CNTNAP5_chr2_124020287_124926219 | 124215712 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG02257.hp1 HG02723.hp1 others(6): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0008others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(5): Show | a0001c0001t0001g0002a0001c0001t0004g0052a0001c0002t0001g0005others(6): Show | 9 | 64 | 0.1406 | -13 | c.83- others(28): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CNTNAP5_chr2_124020287_124926219 | 124464989 | TATCAGAT others(6): Show |
T | intron_variant | MODIFIER | HG03704.hp2 NA18906.hp2 NA19043.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0004a0002c0004t0001 | a0001c0001t0001g0026a0001c0001t0004g0053a0002c0004t0001g0001 | 3 | 64 | 0.0469 | -13 | c.919 others(30): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 6/23 | chr2 | TogoVar | ||||||
| CNTNAP5_chr2_124020287_124926219 | 124565574 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | NA19000.hp2 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0013 | 1 | 64 | 0.0156 | -13 | c.175 others(32): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 11/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CNTNAP5_chr2_124020287_124926219 | 124638200 | AATACATA others(6): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG01069.hp2 others(20): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0002a0001c0001t0001g0010a0001c0001t0001g0043others(20): Show | 23 | 64 | 0.3594 | -13 | c.187 others(32): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CNTNAP5_chr2_124020287_124926219 | 124786447 | GAAAGAAA others(6): Show |
G | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0063 | 1 | 64 | 0.0156 | -13 | c.275 others(32): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 17/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CNTRL_chr9_121069955_121182610 | 121164701 | TATCCATG others(6): Show |
T | intron_variant | MODIFIER | HG02976.hp1 HG03130.hp1 HG06807.hp2 |
a0008 | a0008c0012 | a0008c0012t0002 | a0008c0012t0002g0142a0008c0012t0002g0143a0008c0012t0002g0144 | 3 | 330 | 0.0091 | -13 | c.542 others(30): Show |
CNTRL | ENSG00000119397.19 | transcript | ENST00000373855.7 | protein_coding | 34/43 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| CNTRL_chr9_121069955_121182610 | 121181744 | CTTTTTTT others(6): Show |
C | downstream_gene_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 330 | 0.0030 | -13 | c.*45 others(24): Show |
CNTRL | ENSG00000119397.19 | transcript | ENST00000373855.7 | protein_coding | 4135 | chr9 | TogoVar | ||||||
| CNTROB_chr17_7927206_7954920 | 7940006 | TTTTAGGG others(6): Show |
T | intron_variant | MODIFIER | NA18997.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0056 | 1 | 402 | 0.0025 | -13 | c.116 others(28): Show |
CNTROB | ENSG00000170037.14 | transcript | ENST00000563694.6 | protein_coding | 8/18 | chr17 | TogoVar | ||||||
| COA1_chr7_43634257_43734523 | 43638566 | CTTTTTTT others(6): Show |
C | downstream_gene_variant | MODIFIER | HG01167.hp2 HG01175.hp2 HG01433.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0286a0001c0001t0002g0330a0001c0001t0002g0335others(3): Show | 6 | 384 | 0.0156 | -13 | c.*10 others(24): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 690 | chr7 | TogoVar | ||||||
| COA1_chr7_43634257_43734523 | 43644697 | ATAGATAG others(6): Show |
A | intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0371 | 1 | 384 | 0.0026 | -13 | c.264 others(28): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 4/5 | chr7 | TogoVar | ||||||
| COA1_chr7_43634257_43734523 | 43644715 | TAGATAGA others(6): Show |
T | intron_variant | MODIFIER | HG02738.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032a0001c0001t0001g0148 | 2 | 384 | 0.0052 | -13 | c.264 others(28): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 4/5 | chr7 | TogoVar | ||||||
| COA1_chr7_43634257_43734523 | 43686273 | CTGTGTTC others(6): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00423.hp1 others(146): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0006a0002c0003t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0022others(144): Show | 149 | 384 | 0.3880 | -13 | c.-38 others(32): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | ||||||
| COA1_chr7_43634257_43734523 | 43691248 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG02280.hp1 HG02922.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0013others(1): Show | 4 | 384 | 0.0104 | -13 | c.-39 others(32): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | ||||||
| COA1_chr7_43634257_43734523 | 43715006 | TAAAAAAA others(6): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00642.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0358others(17): Show | 22 | 384 | 0.0573 | -13 | c.-39 others(32): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | ||||||
| COA1_chr7_43634257_43734523 | 43719717 | GACCCACA others(6): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149a0001c0001t0001g0150 | 2 | 384 | 0.0052 | -13 | c.-39 others(30): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar |