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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CMKLR2_chr2_206170316_206218371 | 206172592 | AGGAGAGG others(12): Show |
A | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(79): Show |
a0001a0005a0007 | a0001c0001a0005c0007a0007c0009 | a0001c0001t0001a0001c0001t0014a0005c0007t0001others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0036a0001c0001t0001g0045others(78): Show | 82 | 322 | 0.2547 | -19 | c.*35 others(30): Show |
CMKLR2 | ENSG00000183671.13 | transcript | ENST00000621141.5 | protein_coding | 2723 | chr2 | TogoVar | ||||||
CMKLR2_chr2_206170316_206218371 | 206172742 | AGGGAGAG others(12): Show |
A | downstream_gene_variant | MODIFIER | HG00558.hp2 HG00673.hp2 HG02056.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0011others(2): Show | a0001c0001t0002g0050a0001c0001t0002g0102a0001c0001t0002g0107others(11): Show | 14 | 322 | 0.0435 | -19 | c.*34 others(30): Show |
CMKLR2 | ENSG00000183671.13 | transcript | ENST00000621141.5 | protein_coding | 2573 | chr2 | TogoVar | ||||||
CMKLR2_chr2_206170316_206218371 | 206173005 | CGGGAGAG others(12): Show |
C | downstream_gene_variant | MODIFIER | HG01175.hp1 NA19057.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121a0001c0001t0001g0301 | 2 | 322 | 0.0062 | -19 | c.*31 others(30): Show |
CMKLR2 | ENSG00000183671.13 | transcript | ENST00000621141.5 | protein_coding | 2310 | chr2 | TogoVar | ||||||
CMKLR2_chr2_206170316_206218371 | 206173037 | CGGGAGAG others(12): Show |
C | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00621.hp1 HG00741.hp2 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(2): Show | a0001c0001t0001g0048a0001c0001t0001g0065a0001c0001t0001g0076others(33): Show | 37 | 322 | 0.1149 | -19 | c.*31 others(30): Show |
CMKLR2 | ENSG00000183671.13 | transcript | ENST00000621141.5 | protein_coding | 2278 | chr2 | TogoVar | ||||||
CMKLR2_chr2_206170316_206218371 | 206207728 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02258.hp2 HG03098.hp1 |
a0003 | a0003c0005 | a0003c0005t0001a0003c0005t0006 | a0003c0005t0001g0308a0003c0005t0006g0309a0003c0005t0006g0310 | 3 | 322 | 0.0093 | -19 | c.-29 others(36): Show |
CMKLR2 | ENSG00000183671.13 | transcript | ENST00000621141.5 | protein_coding | 1/1 | chr2 | TogoVar | ||||||
CMSS1_chr3_99812862_100186732 | 100062093 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG02015.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0102a0001c0001t0002g0086a0001c0001t0002g0090others(22): Show | 25 | 232 | 0.1078 | -19 | c.65- others(36): Show |
CMSS1 | ENSG00000184220.12 | transcript | ENST00000421999.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMSS1_chr3_99812862_100186732 | 100074675 | ATTTTTTT others(12): Show |
A | intron_variant | MODIFIER | HG03041.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0082a0001c0001t0005g0083 | 2 | 232 | 0.0086 | -19 | c.65- others(36): Show |
CMSS1 | ENSG00000184220.12 | transcript | ENST00000421999.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CMTM8_chr3_32233680_32375321 | 32295465 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG02970.hp1 HG03195.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0013a0001c0001t0001g0304a0001c0001t0001g0305others(1): Show | 4 | 344 | 0.0116 | -19 | c.147 others(38): Show |
CMTM8 | ENSG00000170293.9 | transcript | ENST00000307526.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CNBD1_chr8_86861415_87387859 | 86894035 | ATTTTTTT others(12): Show |
A | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 152 | 0.0066 | -19 | c.158 others(36): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CNBD1_chr8_86861415_87387859 | 86951581 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 152 | 0.0066 | -19 | c.431 others(38): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CNBD1_chr8_86861415_87387859 | 87205703 | GAGTTTTC others(12): Show |
G | intron_variant | MODIFIER | HG01070.hp1 HG03579.hp1 |
a0002a0004 | a0002c0002a0004c0003 | a0002c0002t0001a0004c0003t0001 | a0002c0002t0001g0083a0004c0003t0001g0006 | 2 | 152 | 0.0132 | -19 | c.432 others(34): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CNBD2_chr20_35963590_36035700 | 35974979 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | NA18946.hp1 NA19060.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242a0001c0001t0001g0243 | 2 | 268 | 0.0075 | -19 | c.190 others(34): Show |
CNBD2 | ENSG00000149646.12 | transcript | ENST00000373973.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CNBP_chr3_129162827_129188896 | 129164210 | CAAAAAAA others(12): Show |
C | downstream_gene_variant | MODIFIER | HG00639.hp2 HG00735.hp1 HG00738.hp2 others(36): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(1): Show | a0001c0002t0001g0002a0001c0002t0001g0021a0001c0002t0001g0186others(29): Show | 39 | 430 | 0.0907 | -19 | c.*62 others(30): Show |
CNBP | ENSG00000169714.17 | transcript | ENST00000422453.7 | protein_coding | 3616 | chr3 | TogoVar | ||||||
CNDP1_chr18_74529500_74592212 | 74565635 | TGATGCTA others(12): Show |
T | intron_variant | MODIFIER | NA19065.hp2 | a0009 | a0009c0023 | a0009c0023t0002 | a0009c0023t0002g0031 | 1 | 390 | 0.0026 | -19 | c.556 others(36): Show |
CNDP1 | ENSG00000150656.15 | transcript | ENST00000358821.8 | protein_coding | 5/11 | chr18 | TogoVar | ||||||
CNGB3_chr8_86569179_86748634 | 86600776 | ATTTTTTT others(12): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02055.hp2 others(6): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0003 | a0001c0001t0003a0002c0002t0003a0004c0003t0003 | a0001c0001t0003g0103a0001c0001t0003g0104a0001c0001t0003g0171others(6): Show | 9 | 288 | 0.0313 | -19 | c.178 others(38): Show |
CNGB3 | ENSG00000170289.13 | transcript | ENST00000320005.6 | protein_coding | 15/17 | chr8 | TogoVar | ||||||
CNIH3_chr1_224611317_224745554 | 224674272 | GTTTTTTT others(12): Show |
G | intron_variant | MODIFIER | HG01516.hp1 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162a0001c0001t0001g0163 | 2 | 358 | 0.0056 | -19 | c.82- others(34): Show |
CNIH3 | ENSG00000143786.8 | transcript | ENST00000272133.4 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CNKSR2_chrX_21369418_21659689 | 21495783 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 163 | 0.0061 | -19 | c.682 others(36): Show |
CNKSR2 | ENSG00000149970.16 | transcript | ENST00000379510.5 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CNNM4_chr2_96755902_96816874 | 96765024 | GTTTTTTT others(12): Show |
G | intron_variant | MODIFIER | HG01071.hp2 HG01981.hp2 HG02559.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0115a0001c0001t0003g0089a0001c0001t0003g0109others(5): Show | 8 | 270 | 0.0296 | -19 | c.140 others(38): Show |
CNNM4 | ENSG00000158158.12 | transcript | ENST00000377075.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNNM4_chr2_96755902_96816874 | 96774960 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0254 | 1 | 270 | 0.0037 | -19 | c.140 others(40): Show |
CNNM4 | ENSG00000158158.12 | transcript | ENST00000377075.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNOT1_chr16_58514951_58634826 | 58565968 | TTTTGTAG others(12): Show |
T | intron_variant | MODIFIER | HG02486.hp1 HG02615.hp2 HG02622.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013others(4): Show | 7 | 308 | 0.0227 | -19 | c.198 others(38): Show |
CNOT1 | ENSG00000125107.19 | transcript | ENST00000317147.10 | protein_coding | 16/48 | chr16 | TogoVar | ||||||
CNOT1_chr16_58514951_58634826 | 58631938 | CTTTTTTT others(12): Show |
C | upstream_gene_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0113 | 1 | 308 | 0.0033 | -19 | c.-24 others(30): Show |
CNOT1 | ENSG00000125107.19 | transcript | ENST00000317147.10 | protein_coding | 2113 | chr16 | TogoVar | ||||||
CNOT4_chr7_135356795_135515102 | 135472476 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG01952.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0096 | 1 | 362 | 0.0028 | -19 | c.-92 others(38): Show |
CNOT4 | ENSG00000080802.21 | transcript | ENST00000541284.6 | protein_coding | 1/11 | chr7 | TogoVar | ||||||
CNOT4_chr7_135356795_135515102 | 135472507 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0334 | 1 | 362 | 0.0028 | -19 | c.-92 others(38): Show |
CNOT4 | ENSG00000080802.21 | transcript | ENST00000541284.6 | protein_coding | 1/11 | chr7 | TogoVar | ||||||
CNOT4_chr7_135356795_135515102 | 135495683 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG01358.hp1 NA18948.hp1 NA18954.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0001 | a0001c0001t0003g0353a0002c0002t0001g0031a0002c0002t0001g0050 | 3 | 362 | 0.0083 | -19 | c.-93 others(38): Show |
CNOT4 | ENSG00000080802.21 | transcript | ENST00000541284.6 | protein_coding | 1/11 | chr7 | TogoVar | ||||||
CNOT4_chr7_135356795_135515102 | 135495687 | AAAAAAAG others(12): Show |
A | intron_variant | MODIFIER | HG02165.hp2 HG03492.hp1 NA18978.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0002c0002t0001 | a0001c0001t0001g0175a0001c0001t0004g0347a0002c0002t0001g0040others(3): Show | 6 | 362 | 0.0166 | -19 | c.-93 others(38): Show |
CNOT4 | ENSG00000080802.21 | transcript | ENST00000541284.6 | protein_coding | 1/11 | chr7 | TogoVar | ||||||
CNOT4_chr7_135356795_135515102 | 135495691 | AAAGAAAG others(12): Show |
A | intron_variant | MODIFIER | HG02683.hp2 HG03669.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0220a0001c0001t0001g0221 | 2 | 362 | 0.0055 | -19 | c.-93 others(38): Show |
CNOT4 | ENSG00000080802.21 | transcript | ENST00000541284.6 | protein_coding | 1/11 | chr7 | TogoVar | ||||||
CNOT6L_chr4_77708387_77824368 | 77714438 | TAAAAAAA others(12): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0057 | a0001c0001t0057g0076 | 1 | 328 | 0.0031 | -19 | c.*59 others(30): Show |
CNOT6L | ENSG00000138767.14 | transcript | ENST00000504123.7 | protein_coding | 12/12 | 5974 | chr4 | TogoVar | |||||
CNOT6L_chr4_77708387_77824368 | 77755223 | GTTTTTTT others(12): Show |
G | intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0053 | 1 | 328 | 0.0031 | -19 | c.490 others(36): Show |
CNOT6L | ENSG00000138767.14 | transcript | ENST00000504123.7 | protein_coding | 5/11 | chr4 | TogoVar | ||||||
CNOT6_chr5_180489379_180583358 | 180539551 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0046 | a0001c0001t0046g0011 | 1 | 334 | 0.0030 | -19 | c.112 others(38): Show |
CNOT6 | ENSG00000113300.13 | transcript | ENST00000261951.9 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CNPY4_chr7_100114634_100130508 | 100121112 | ATATATTT others(12): Show |
A | intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 416 | 0.0024 | -19 | c.119 others(36): Show |
CNPY4 | ENSG00000166997.8 | transcript | ENST00000262932.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNRIP1_chr2_68288010_68324949 | 68297567 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(177): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(5): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(156): Show | 180 | 424 | 0.4245 | -19 | c.331 others(36): Show |
CNRIP1 | ENSG00000119865.9 | transcript | ENST00000263655.4 | protein_coding | 2/2 | chr2 | TogoVar | ||||||
CNTLN_chr9_17130040_17508923 | 17226036 | AAGTTGTC others(12): Show |
A | intron_variant | MODIFIER | HG00597.hp1 HG00621.hp2 HG00673.hp2 others(18): Show |
a0003a0017 | a0003c0002a0003c0052a0017c0044 | a0003c0002t0001a0003c0002t0002a0003c0002t0016others(2): Show | a0003c0002t0001g0051a0003c0002t0001g0052a0003c0002t0001g0054others(18): Show | 21 | 218 | 0.0963 | -19 | c.450 others(34): Show |
CNTLN | ENSG00000044459.15 | transcript | ENST00000380647.8 | protein_coding | 2/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CNTLN_chr9_17130040_17508923 | 17294817 | AAGGGGGG others(12): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00738.hp2 others(52): Show |
a0001a0002a0005others(11): Show | a0001c0014a0001c0030a0002c0006others(20): Show | a0001c0014t0001a0001c0030t0002a0002c0006t0001others(30): Show | a0001c0014t0001g0038a0001c0030t0002g0048a0002c0006t0001g0029others(52): Show | 55 | 218 | 0.2523 | -19 | c.984 others(36): Show |
CNTLN | ENSG00000044459.15 | transcript | ENST00000380647.8 | protein_coding | 6/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CNTLN_chr9_17130040_17508923 | 17312345 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG02148.hp2 | a0002 | a0002c0013 | a0002c0013t0001 | a0002c0013t0001g0045 | 1 | 218 | 0.0046 | -19 | c.134 others(38): Show |
CNTLN | ENSG00000044459.15 | transcript | ENST00000380647.8 | protein_coding | 8/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CNTN1_chr12_40687439_41077415 | 40707227 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG01069.hp2 HG02109.hp1 others(1): Show |
a0001 | a0001c0001a0001c0006a0001c0013 | a0001c0001t0001a0001c0006t0006a0001c0013t0001 | a0001c0001t0001g0063a0001c0001t0001g0230a0001c0006t0006g0017others(1): Show | 4 | 230 | 0.0174 | -19 | c.-77 others(38): Show |
CNTN1 | ENSG00000018236.15 | transcript | ENST00000551295.7 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CNTN1_chr12_40687439_41077415 | 40795301 | ACACACAC others(12): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(73): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0049others(73): Show | 76 | 230 | 0.3304 | -19 | c.-77 others(40): Show |
CNTN1 | ENSG00000018236.15 | transcript | ENST00000551295.7 | protein_coding | 1/23 | chr12 | TogoVar | ||||||
CNTN3_chr3_74257568_74619659 | 74344397 | GTTTTTTT others(12): Show |
G | intron_variant | MODIFIER | HG02004.hp2 HG03486.hp2 |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0003a0003c0007t0007 | a0001c0001t0003g0049a0003c0007t0007g0073 | 2 | 174 | 0.0115 | -19 | c.136 others(38): Show |
CNTN3 | ENSG00000113805.9 | transcript | ENST00000263665.7 | protein_coding | 11/22 | chr3 | TogoVar | ||||||
CNTN5_chr11_99015949_100363885 | 99735506 | CTATTTTT others(12): Show |
C | intron_variant | MODIFIER | HG00733.hp2 HG00735.hp1 HG00735.hp2 others(51): Show |
a0001a0002a0003others(9): Show | a0001c0001a0002c0002a0003c0003others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(36): Show | a0001c0001t0001g0004a0001c0001t0001g0008a0001c0001t0001g0020others(51): Show | 54 | 66 | 0.8182 | -19 | c.56- others(36): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 3/24 | chr11 | TogoVar | ||||||
CNTN6_chr3_1088024_1409217 | 1250911 | GCCATTTC others(12): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00423.hp2 others(101): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(17): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(26): Show | a0001c0001t0001g0024a0001c0001t0001g0033a0001c0001t0001g0035others(101): Show | 104 | 232 | 0.4483 | -19 | c.358 others(38): Show |
CNTN6 | ENSG00000134115.13 | transcript | ENST00000446702.7 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 146483283 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02630.hp1 |
a0001a0004 | a0001c0012a0004c0014 | a0001c0012t0004a0004c0014t0021 | a0001c0012t0004g0026a0004c0014t0021g0022 | 2 | 40 | 0.0500 | -19 | c.98- others(38): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 1/23 | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 146525569 | TATCTATC others(12): Show |
T | intron_variant | MODIFIER | HG02896.hp1 HG03139.hp1 NA21309.hp1 |
a0001a0005 | a0001c0008a0001c0010a0005c0020 | a0001c0008t0001a0001c0010t0002a0005c0020t0005 | a0001c0008t0001g0025a0001c0010t0002g0014a0005c0020t0005g0016 | 3 | 40 | 0.0750 | -19 | c.98- others(38): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 146663877 | AGAGTTAT others(12): Show |
A | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0001 | 1 | 40 | 0.0250 | -19 | c.98- others(38): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 147062127 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0018 | a0001c0018t0002 | a0001c0018t0002g0012 | 1 | 40 | 0.0250 | -19 | c.550 others(38): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 147131145 | CATGTACC others(12): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG03225.hp2 |
a0001 | a0001c0018a0001c0019 | a0001c0018t0002a0001c0019t0006 | a0001c0018t0002g0012a0001c0019t0006g0015 | 2 | 40 | 0.0500 | -19 | c.108 others(38): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 147256985 | TAATAGGT others(12): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02717.hp2 HG02886.hp2 others(3): Show |
a0001a0005 | a0001c0001a0001c0005a0001c0010others(2): Show | a0001c0001t0006a0001c0005t0008a0001c0005t0022others(3): Show | a0001c0001t0006g0009a0001c0005t0008g0005a0001c0005t0022g0032others(3): Show | 6 | 40 | 0.1500 | -19 | c.134 others(40): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 147676093 | ACTTCAAT others(12): Show |
A | intron_variant | MODIFIER | HG02630.hp2 HG02922.hp2 HG02976.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0004t0005others(1): Show | a0001c0001t0001g0003a0001c0002t0002g0013a0001c0004t0005g0004others(1): Show | 4 | 40 | 0.1000 | -19 | c.209 others(40): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 148328485 | CTGTAGAT others(12): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG02630.hp1 HG02630.hp2 others(14): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0012a0001c0002t0001others(12): Show | a0001c0001t0001g0038a0001c0001t0012g0034a0001c0002t0001g0007others(14): Show | 17 | 40 | 0.4250 | -19 | c.347 others(40): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP3B_chr9_41885536_42134426 | 41900741 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(89): Show |
a0001a0002a0003others(26): Show | a0001c0001a0001c0012a0001c0042others(36): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0017others(48): Show | a0001c0001t0002g0002a0001c0001t0002g0004a0001c0001t0002g0005others(89): Show | 92 | 108 | 0.8519 | -19 | c.344 others(38): Show |
CNTNAP3B | ENSG00000154529.15 | transcript | ENST00000377561.7 | protein_coding | 21/23 | chr9 | TogoVar | ||||||
CNTNAP4_chr16_76272401_76565757 | 76522686 | CCTTTCTT others(12): Show |
C | intron_variant | MODIFIER | HG01106.hp1 HG02055.hp1 HG02647.hp2 others(2): Show |
a0002 | a0002c0002a0002c0005a0002c0014 | a0002c0002t0005a0002c0005t0002a0002c0014t0013 | a0002c0002t0005g0019a0002c0005t0002g0010a0002c0005t0002g0101others(2): Show | 5 | 274 | 0.0183 | -19 | c.275 others(36): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 17/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124517292 | TTGGTGAT others(12): Show |
T | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0028 | 1 | 64 | 0.0156 | -19 | c.132 others(38): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |