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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CIP2A_chr3_108544864_108594438 | 108569181 | T | TATATATA others(37): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01975.hp1 HG03927.hp1 |
a0001a0004 | a0001c0001a0001c0009a0004c0004 | a0001c0001t0001a0001c0009t0001a0004c0004t0005 | a0001c0001t0001g0200 a0001c0009t0001g0210 a0004c0004t0005g0021 |
3 | 213 | 0.0141 | 44 | c.111 others(61): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 9/20 | chr3 | TogoVar | |||||||
CIRBP_chr19_1264332_1279810 | 1275043 | G | GTCAGGCC others(37): Show |
downstream_gene_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 278 | 0.0036 | 44 | c.*26 others(55): Show |
CIRBP | ENSG00000099622.14 | transcript | ENST00000587896.6 | protein_coding | 234 | chr19 | TogoVar | |||||||
CLCN1_chr7_143311111_143357083 | 143326268 | T | TTGGCCTC others(37): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00642.hp2 HG00735.hp1 others(75): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0003a0001c0004others(16): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(17): Show | a0001c0001t0001g0121 a0001c0001t0001g0318 a0001c0001t0001g0375 others(71): Show |
78 | 412 | 0.1893 | 44 | c.853 others(61): Show |
CLCN1 | ENSG00000188037.14 | transcript | ENST00000343257.7 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CLCN4_chrX_10151975_10242660 | 10216897 | G | GTATATAT others(37): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0147 | 1 | 43 | 0.0233 | 44 | c.197 others(63): Show |
CLCN4 | ENSG00000073464.13 | transcript | ENST00000380833.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CLCN4_chrX_10151975_10242660 | 10216918 | T | TATATATA others(37): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0042 | 1 | 42 | 0.0238 | 44 | c.197 others(63): Show |
CLCN4 | ENSG00000073464.13 | transcript | ENST00000380833.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CLEC2A_chr12_9908227_9937370 | 9933081 | G | GTGTTTGC others(37): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 434 | 0.0023 | 44 | c.-75 others(53): Show |
CLEC2A | ENSG00000188393.9 | transcript | ENST00000455827.2 | protein_coding | 712 | chr12 | TogoVar | |||||||
CLEC2L_chr7_139518685_139549985 | 139523267 | T | TCACTTCG others(37): Show |
upstream_gene_variant | MODIFIER | NA18987.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 306 | 0.0033 | 44 | c.-66 others(53): Show |
CLEC2L | ENSG00000236279.7 | transcript | ENST00000422142.7 | protein_coding | 417 | chr7 | TogoVar | |||||||
CLEC4G_chr19_7723957_7737110 | 7732906 | A | AAAAAAAA others(37): Show |
upstream_gene_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 50 | 0.0200 | 44 | c.-80 others(53): Show |
CLEC4G | ENSG00000182566.15 | transcript | ENST00000328853.11 | protein_coding | 797 | chr19 | TogoVar | |||||||
CLEC4G_chr19_7723957_7737110 | 7732906 | A | AAAAAATA others(37): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 50 | 0.0200 | 44 | c.-80 others(53): Show |
CLEC4G | ENSG00000182566.15 | transcript | ENST00000328853.11 | protein_coding | 797 | chr19 | TogoVar | |||||||
CLMP_chr11_123064872_123200248 | 123150480 | A | AAAGAAAG others(37): Show |
intron_variant | MODIFIER | HG01243.hp2 NA18954.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0109 a0001c0001t0003g0157 |
2 | 126 | 0.0159 | 44 | c.28+ others(61): Show |
CLMP | ENSG00000166250.12 | transcript | ENST00000448775.4 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
CLMP_chr11_123064872_123200248 | 123150480 | A | AAAGAAAG others(37): Show |
intron_variant | MODIFIER | HG00639.hp2 HG03453.hp1 NA18961.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0040 | a0001c0001t0002g0240 a0001c0001t0003g0177 a0001c0001t0040g0159 |
3 | 127 | 0.0236 | 44 | c.28+ others(61): Show |
CLMP | ENSG00000166250.12 | transcript | ENST00000448775.4 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
CLMP_chr11_123064872_123200248 | 123150480 | A | AAAGAAAG others(37): Show |
intron_variant | MODIFIER | HG02055.hp1 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0050 | a0001c0001t0008g0237 a0001c0001t0050g0253 |
2 | 126 | 0.0159 | 44 | c.28+ others(61): Show |
CLMP | ENSG00000166250.12 | transcript | ENST00000448775.4 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
CLNK_chr4_10481395_10689768 | 10537702 | C | CCTTTCTT others(37): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0109 | 1 | 250 | 0.0040 | 44 | c.602 others(61): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 11/18 | chr4 | TogoVar | |||||||
CLNK_chr4_10481395_10689768 | 10537706 | C | CCTTCCTT others(37): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0236 | 1 | 15 | 0.0667 | 44 | c.602 others(61): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 11/18 | chr4 | TogoVar | |||||||
CLNK_chr4_10481395_10689768 | 10537706 | C | CCTTCCTT others(37): Show |
intron_variant | MODIFIER | NA18988.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0241 | 1 | 15 | 0.0667 | 44 | c.602 others(61): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 11/18 | chr4 | TogoVar | |||||||
CLNK_chr4_10481395_10689768 | 10537706 | C | CCTTCCTT others(37): Show |
intron_variant | MODIFIER | HG02135.hp2 HG02970.hp2 NA18999.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0104 a0001c0001t0001g0283 a0001c0001t0003g0240 |
3 | 17 | 0.1765 | 44 | c.602 others(61): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 11/18 | chr4 | TogoVar | |||||||
CLNK_chr4_10481395_10689768 | 10537706 | C | CCTTCCTT others(37): Show |
intron_variant | MODIFIER | HG00408.hp1 HG02622.hp2 HG03490.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0010others(1): Show | a0001c0001t0002g0017 a0001c0001t0008g0319 a0001c0001t0010g0313 others(1): Show |
4 | 18 | 0.2222 | 44 | c.602 others(61): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 11/18 | chr4 | TogoVar | |||||||
CLNK_chr4_10481395_10689768 | 10654384 | A | AATATATA others(37): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00558.hp2 HG00639.hp1 others(9): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(8): Show | a0001c0001t0002g0079 a0001c0001t0003g0225 a0001c0001t0003g0240 others(9): Show |
12 | 233 | 0.0515 | 44 | c.11+ others(61): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 2/18 | chr4 | TogoVar | |||||||
CLNK_chr4_10481395_10689768 | 10654393 | A | ATATATAT others(37): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01515.hp1 HG01517.hp1 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0003a0003c0003t0007a0003c0003t0017 | a0003c0003t0003g0297 a0003c0003t0007g0117 a0003c0003t0017g0112 others(1): Show |
4 | 313 | 0.0128 | 44 | c.11+ others(61): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 2/18 | chr4 | TogoVar | |||||||
CLPB_chr11_72280495_72439531 | 72377649 | A | AAAGGGGA others(37): Show |
intron_variant | MODIFIER | HG02886.hp2 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0039a0001c0001t0041 | a0001c0001t0039g0155 a0001c0001t0041g0154 |
2 | 163 | 0.0123 | 44 | c.646 others(61): Show |
CLPB | ENSG00000162129.15 | transcript | ENST00000294053.9 | protein_coding | 4/16 | chr11 | TogoVar | |||||||
CLRN1_chr3_150921567_150977727 | 150969313 | A | ATATATAT others(37): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 294 | 0.0034 | 44 | c.253 others(61): Show |
CLRN1 | ENSG00000163646.12 | transcript | ENST00000327047.6 | protein_coding | 1/2 | chr3 | TogoVar | |||||||
CLSTN2_chr3_139930185_140582397 | 139955112 | C | CTATATAT others(37): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 14 | 0.0714 | 44 | c.109 others(63): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CLTA_chr9_36185921_36217059 | 36216327 | A | ATGTGTGT others(37): Show |
downstream_gene_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 126 | 0.0079 | 44 | c.*45 others(55): Show |
CLTA | ENSG00000122705.18 | transcript | ENST00000345519.10 | protein_coding | 4269 | chr9 | TogoVar | |||||||
CLUL1_chr18_591988_655182 | 627028 | A | AGAGAAAG others(37): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0109 | 1 | 399 | 0.0025 | 44 | c.424 others(57): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 5/9 | chr18 | TogoVar | |||||||
CLUL1_chr18_591988_655182 | 627030 | A | AGAAAGAA others(37): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240 | 1 | 122 | 0.0082 | 44 | c.424 others(57): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 5/9 | chr18 | TogoVar | |||||||
CLUL1_chr18_591988_655182 | 627030 | A | AGGAAGAG others(37): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 122 | 0.0082 | 44 | c.424 others(57): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 5/9 | chr18 | TogoVar | |||||||
CMTM8_chr3_32233680_32375321 | 32262978 | T | TAAAAACC others(37): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 342 | 0.0029 | 44 | c.147 others(63): Show |
CMTM8 | ENSG00000170293.9 | transcript | ENST00000307526.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 87136798 | T | TTTATATA others(37): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 130 | 0.0077 | 44 | c.432 others(63): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 87136827 | T | TTTATATT others(37): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02622.hp2 |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0001a0005c0007t0002 | a0001c0001t0001g0019 a0005c0007t0002g0144 |
2 | 150 | 0.0133 | 44 | c.432 others(63): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CNGA2_chrX_151729746_151750564 | 151742927 | T | TATATATA others(37): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02818.hp2 |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0034 | 2 | 314 | 0.0064 | 44 | c.590 others(59): Show |
CNGA2 | ENSG00000183862.6 | transcript | ENST00000329903.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CNGA2_chrX_151729746_151750564 | 151742929 | T | TATATATA others(37): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0085 | 1 | 319 | 0.0031 | 44 | c.590 others(59): Show |
CNGA2 | ENSG00000183862.6 | transcript | ENST00000329903.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CNGA2_chrX_151729746_151750564 | 151742931 | T | TATATATA others(37): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0011 | a0011c0016 | a0011c0016t0002 | a0011c0016t0002g0106 | 1 | 334 | 0.0030 | 44 | c.590 others(59): Show |
CNGA2 | ENSG00000183862.6 | transcript | ENST00000329903.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CNGB1_chr16_57877340_57976128 | 57879797 | T | TTCCCTCC others(37): Show |
downstream_gene_variant | MODIFIER | HG02886.hp2 | a0009 | a0009c0025 | a0009c0025t0023 | a0009c0025t0023g0077 | 1 | 358 | 0.0028 | 44 | c.*43 others(55): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 2542 | chr16 | TogoVar | |||||||
CNKSR2_chrX_21369418_21659689 | 21372502 | T | TATATACA others(37): Show |
upstream_gene_variant | MODIFIER | HG02615.hp1 HG02965.hp1 HG03471.hp1 |
a0001 | a0001c0003 | a0001c0003t0014a0001c0003t0026 | a0001c0003t0014g0148 a0001c0003t0014g0149 a0001c0003t0026g0150 |
3 | 160 | 0.0188 | 44 | c.-23 others(55): Show |
CNKSR2 | ENSG00000149970.16 | transcript | ENST00000379510.5 | protein_coding | 1915 | chrX | TogoVar | |||||||
CNOT3_chr19_54132762_54160681 | 54133829 | C | CCCTCCCT others(37): Show |
upstream_gene_variant | MODIFIER | HG01978.hp1 HG03041.hp2 HG03471.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0150 a0001c0002t0001g0006 a0001c0002t0001g0013 others(2): Show |
5 | 72 | 0.0694 | 44 | c.-42 others(55): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 3932 | chr19 | TogoVar | |||||||
CNOT3_chr19_54132762_54160681 | 54133829 | C | CCCTCCCT others(37): Show |
upstream_gene_variant | MODIFIER | HG00621.hp1 HG02129.hp1 HG03471.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0009 | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0045 a0001c0001t0001g0081 others(3): Show |
6 | 73 | 0.0822 | 44 | c.-42 others(55): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 3932 | chr19 | TogoVar | |||||||
CNOT6L_chr4_77708387_77824368 | 77819049 | G | GACACACA others(37): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0306 | 1 | 75 | 0.0133 | 44 | c.5+2 others(55): Show |
CNOT6L | ENSG00000138767.14 | transcript | ENST00000504123.7 | protein_coding | 1/11 | chr4 | TogoVar | |||||||
CNR2_chr1_23865515_23918362 | 23896881 | G | GTTTTTTT others(37): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0197 | 1 | 11 | 0.0909 | 44 | c.-46 others(63): Show |
CNR2 | ENSG00000188822.8 | transcript | ENST00000374472.5 | protein_coding | 1/1 | chr1 | TogoVar | |||||||
CNTLN_chr9_17130040_17508923 | 17359744 | A | ACAAAAAA others(37): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0021 | a0021c0048 | a0021c0048t0007 | a0021c0048t0007g0108 | 1 | 205 | 0.0049 | 44 | c.188 others(63): Show |
CNTLN | ENSG00000044459.15 | transcript | ENST00000380647.8 | protein_coding | 12/25 | chr9 | TogoVar | |||||||
CNTN1_chr12_40687439_41077415 | 41073888 | C | CGCATCTT others(37): Show |
downstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0053 | 1 | 230 | 0.0043 | 44 | c.*38 others(55): Show |
CNTN1 | ENSG00000018236.15 | transcript | ENST00000551295.7 | protein_coding | 1474 | chr12 | TogoVar | |||||||
CNTN4_chr3_2093866_3062959 | 2340710 | T | TATATATA others(37): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0064 | 1 | 15 | 0.0667 | 44 | c.-89 others(61): Show |
CNTN4 | ENSG00000144619.15 | transcript | ENST00000418658.6 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CNTN4_chr3_2093866_3062959 | 2340710 | T | TATATATA others(37): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0044 | 1 | 15 | 0.0667 | 44 | c.-89 others(61): Show |
CNTN4 | ENSG00000144619.15 | transcript | ENST00000418658.6 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CNTN5_chr11_99015949_100363885 | 100090505 | C | CCCTCCCT others(37): Show |
intron_variant | MODIFIER | HG02132.hp1 HG02602.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016 | a0001c0001t0001g0053 a0001c0001t0016g0049 |
2 | 37 | 0.0541 | 44 | c.158 others(65): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 13/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CNTN5_chr11_99015949_100363885 | 100090525 | C | CCCTCCCT others(37): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01243.hp2 HG02109.hp2 others(5): Show |
a0001a0005a0006 | a0001c0001a0005c0004a0006c0005 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0060 others(5): Show |
8 | 58 | 0.1379 | 44 | c.158 others(65): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 13/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 146232157 | A | ATTTAAAT others(37): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 |
a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0035 a0001c0004t0003g0036 |
2 | 40 | 0.0500 | 44 | c.97+ others(63): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 147176680 | A | AATATATA others(37): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02451.hp1 HG02886.hp2 others(1): Show |
a0001a0003 | a0001c0002a0001c0005a0001c0010others(1): Show | a0001c0002t0001a0001c0005t0022a0001c0010t0002others(1): Show | a0001c0002t0001g0007 a0001c0005t0022g0032 a0001c0010t0002g0014 others(1): Show |
4 | 21 | 0.1905 | 44 | c.134 others(65): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 147347461 | T | TATATATA others(37): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0012 | a0001c0012t0004 | a0001c0012t0004g0026 | 1 | 33 | 0.0303 | 44 | c.149 others(65): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 9/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 147586543 | A | AAGGAAGG others(37): Show |
intron_variant | MODIFIER | HG02886.hp2 HG03139.hp1 NA19030.hp1 |
a0001 | a0001c0001a0001c0005a0001c0008 | a0001c0001t0001a0001c0005t0022a0001c0008t0001 | a0001c0001t0001g0038 a0001c0005t0022g0032 a0001c0008t0001g0025 |
3 | 25 | 0.1200 | 44 | c.189 others(65): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 147586543 | A | AAGGAAGG others(37): Show |
intron_variant | MODIFIER | HG02897.hp1 HG03098.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0003 a0001c0002t0001g0008 |
2 | 24 | 0.0833 | 44 | c.189 others(65): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 147635184 | C | CTATATAT others(37): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 28 | 0.0357 | 44 | c.189 others(63): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |