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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHODL_chr21_18239833_18272370 | 18251413 | T | TATTTATT others(43): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00597.hp1 HG00597.hp2 others(82): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0046 a0001c0001t0002g0006 a0001c0001t0002g0014 others(61): Show |
85 | 400 | 0.2125 | 50 | c.80- others(65): Show |
CHODL | ENSG00000154645.14 | transcript | ENST00000299295.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
CHODL_chr21_18239833_18272370 | 18251513 | T | TATTTTAT others(43): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 | 1 | 400 | 0.0025 | 50 | c.80- others(65): Show |
CHODL | ENSG00000154645.14 | transcript | ENST00000299295.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
CHRDL1_chrX_110668856_110800817 | 110689564 | A | ATATATCT others(43): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0102 | 1 | 166 | 0.0060 | 50 | c.779 others(65): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 8/11 | chrX | TogoVar | |||||||
CHRNB4_chr15_78619111_78646210 | 78643288 | T | TGCCCAGG others(43): Show |
upstream_gene_variant | MODIFIER | HG02895.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0023 | 2 | 414 | 0.0048 | 50 | c.-22 others(61): Show |
CHRNB4 | ENSG00000117971.12 | transcript | ENST00000261751.8 | protein_coding | 2079 | chr15 | TogoVar | |||||||
CHST15_chr10_124002668_124098598 | 124034575 | T | TCCCCTAA others(43): Show |
intron_variant | MODIFIER | HG01192.hp1 HG03139.hp2 HG03579.hp2 others(1): Show |
a0001 | a0001c0001a0001c0013a0001c0019 | a0001c0001t0002a0001c0001t0019a0001c0013t0014others(1): Show | a0001c0001t0002g0164 a0001c0001t0019g0183 a0001c0013t0014g0099 others(1): Show |
4 | 390 | 0.0103 | 50 | c.119 others(69): Show |
CHST15 | ENSG00000182022.18 | transcript | ENST00000435907.6 | protein_coding | 5/7 | chr10 | TogoVar | |||||||
CHST15_chr10_124002668_124098598 | 124035126 | A | AGGGACCC others(43): Show |
intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0332 | 1 | 286 | 0.0035 | 50 | c.119 others(69): Show |
CHST15 | ENSG00000182022.18 | transcript | ENST00000435907.6 | protein_coding | 5/7 | chr10 | TogoVar | |||||||
CHST8_chr19_33616953_33778506 | 33753620 | T | TCCCACCA others(43): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0246 | 1 | 181 | 0.0055 | 50 | c.131 others(69): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CIBAR1_chr8_93695550_93736527 | 93697754 | A | ATATATAT others(43): Show |
upstream_gene_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 193 | 0.0052 | 50 | c.-28 others(61): Show |
CIBAR1 | ENSG00000188343.14 | transcript | ENST00000518322.6 | protein_coding | 2795 | chr8 | TogoVar | |||||||
CIBAR1_chr8_93695550_93736527 | 93697763 | T | TACATATA others(43): Show |
upstream_gene_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 | 1 | 169 | 0.0059 | 50 | c.-28 others(61): Show |
CIBAR1 | ENSG00000188343.14 | transcript | ENST00000518322.6 | protein_coding | 2786 | chr8 | TogoVar | |||||||
CIBAR1_chr8_93695550_93736527 | 93697763 | T | TACATATA others(43): Show |
upstream_gene_variant | MODIFIER | HG02717.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0046 | 1 | 169 | 0.0059 | 50 | c.-28 others(61): Show |
CIBAR1 | ENSG00000188343.14 | transcript | ENST00000518322.6 | protein_coding | 2786 | chr8 | TogoVar | |||||||
CIP2A_chr3_108544864_108594438 | 108569181 | T | TATATATA others(43): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0168 | 1 | 211 | 0.0047 | 50 | c.111 others(67): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 9/20 | chr3 | TogoVar | |||||||
CIP2A_chr3_108544864_108594438 | 108569181 | T | TATATATA others(43): Show |
intron_variant | MODIFIER | HG01978.hp1 HG02135.hp1 HG02738.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0170 a0001c0001t0002g0190 a0001c0001t0002g0230 others(4): Show |
7 | 217 | 0.0323 | 50 | c.111 others(67): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 9/20 | chr3 | TogoVar | |||||||
CKAP2L_chr2_112731349_112769609 | 112732316 | G | GCAGGGGC others(43): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(159): Show |
a0001a0003a0005others(3): Show | a0001c0001a0001c0004a0001c0010others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0013others(18): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(97): Show |
162 | 284 | 0.5704 | 50 | c.*64 others(61): Show |
CKAP2L | ENSG00000169607.13 | transcript | ENST00000302450.11 | protein_coding | 4032 | chr2 | TogoVar | |||||||
CLCN7_chr16_1439935_1480028 | 1457357 | G | GTGCTCAG others(43): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00738.hp1 HG03688.hp2 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0002a0001c0004t0005 | a0001c0002t0002g0198 a0001c0004t0005g0354 a0001c0004t0005g0358 |
3 | 381 | 0.0079 | 50 | c.739 others(63): Show |
CLCN7 | ENSG00000103249.19 | transcript | ENST00000382745.9 | protein_coding | 8/24 | chr16 | TogoVar | |||||||
CLCN7_chr16_1439935_1480028 | 1457457 | A | ATGCTCAG others(43): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 HG03225.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0011 | a0001c0001t0001a0001c0005t0004a0002c0011t0018 | a0001c0001t0001g0125 a0001c0005t0004g0266 a0001c0005t0004g0273 others(2): Show |
5 | 347 | 0.0144 | 50 | c.739 others(65): Show |
CLCN7 | ENSG00000103249.19 | transcript | ENST00000382745.9 | protein_coding | 8/24 | chr16 | TogoVar | |||||||
CLEC2B_chr12_9847369_9874354 | 9853071 | A | AAGAAAGA others(43): Show |
3_prime_UTR_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0062 | a0001c0001t0062g0109 | 1 | 188 | 0.0053 | 50 | c.*22 others(59): Show |
CLEC2B | ENSG00000110852.5 | transcript | ENST00000228438.3 | protein_coding | 5/5 | 228 | chr12 | TogoVar | ||||||
CLEC2B_chr12_9847369_9874354 | 9853083 | A | AAGAAAGA others(43): Show |
3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG01106.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0010 a0001c0001t0004g0024 a0001c0001t0004g0033 others(12): Show |
27 | 294 | 0.0918 | 50 | c.*21 others(59): Show |
CLEC2B | ENSG00000110852.5 | transcript | ENST00000228438.3 | protein_coding | 5/5 | 216 | chr12 | TogoVar | ||||||
CLIC5_chr6_45893456_46020860 | 46016093 | G | GAAGGGGA others(43): Show |
upstream_gene_variant | MODIFIER | HG01496.hp1 HG03453.hp2 NA18950.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0012 | a0001c0001t0002g0219 a0001c0001t0007g0030 a0001c0001t0012g0084 |
3 | 22 | 0.1364 | 50 | c.-60 others(59): Show |
CLIC5 | ENSG00000112782.19 | transcript | ENST00000339561.12 | protein_coding | 234 | chr6 | TogoVar | |||||||
CLMP_chr11_123064872_123200248 | 123118971 | T | TTCTCTCT others(43): Show |
intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0141 | 1 | 243 | 0.0041 | 50 | c.29- others(67): Show |
CLMP | ENSG00000166250.12 | transcript | ENST00000448775.4 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
CLMP_chr11_123064872_123200248 | 123119070 | T | TCTCTCTC others(43): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0105 | 1 | 248 | 0.0040 | 50 | c.29- others(67): Show |
CLMP | ENSG00000166250.12 | transcript | ENST00000448775.4 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
CLN6_chr15_68201992_68234728 | 68229767 | A | AGCGGAGC others(43): Show |
upstream_gene_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 145 | 0.0069 | 50 | c.-18 others(59): Show |
CLN6 | ENSG00000128973.13 | transcript | ENST00000249806.11 | protein_coding | 40 | chr15 | TogoVar | |||||||
CLN6_chr15_68201992_68234728 | 68229767 | A | AGGGAGGC others(43): Show |
upstream_gene_variant | MODIFIER | HG02258.hp1 HG03486.hp1 NA18953.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0002t0008 | a0001c0001t0008g0046 a0001c0001t0008g0047 a0001c0002t0008g0042 |
3 | 147 | 0.0204 | 50 | c.-18 others(59): Show |
CLN6 | ENSG00000128973.13 | transcript | ENST00000249806.11 | protein_coding | 40 | chr15 | TogoVar | |||||||
CLNK_chr4_10481395_10689768 | 10654384 | A | AATATATA others(43): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0014 | 1 | 222 | 0.0045 | 50 | c.11+ others(67): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 2/18 | chr4 | TogoVar | |||||||
CLSTN2_chr3_139930185_140582397 | 139955112 | C | CTATATAT others(43): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0002 | a0002c0002 | a0002c0002t0011 | a0002c0002t0011g0039 | 1 | 14 | 0.0714 | 50 | c.109 others(69): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CLUL1_chr18_591988_655182 | 627030 | A | AGAGAGAG others(43): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 | 1 | 122 | 0.0082 | 50 | c.424 others(63): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 5/9 | chr18 | TogoVar | |||||||
CMC1_chr3_28236619_28330142 | 28300649 | A | ATCCCTTT others(43): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0317 | 1 | 101 | 0.0099 | 50 | c.110 others(69): Show |
CMC1 | ENSG00000187118.14 | transcript | ENST00000466830.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CNGA2_chrX_151729746_151750564 | 151742929 | T | TATATATA others(43): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0003 | a0003c0003 | a0003c0003t0012 | a0003c0003t0012g0068 | 1 | 319 | 0.0031 | 50 | c.590 others(65): Show |
CNGA2 | ENSG00000183862.6 | transcript | ENST00000329903.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CNGA2_chrX_151729746_151750564 | 151742962 | A | ATATATAT others(43): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0039 | 1 | 330 | 0.0030 | 50 | c.590 others(65): Show |
CNGA2 | ENSG00000183862.6 | transcript | ENST00000329903.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CNGA2_chrX_151729746_151750564 | 151743028 | G | GTGTGTGT others(43): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01175.hp2 HG01346.hp1 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0013 a0001c0004t0003g0069 |
4 | 235 | 0.0170 | 50 | c.590 others(63): Show |
CNGA2 | ENSG00000183862.6 | transcript | ENST00000329903.5 | protein_coding | 6/6 | chrX | TogoVar | |||||||
CNGB1_chr16_57877340_57976128 | 57879787 | T | TTCTTTCT others(43): Show |
downstream_gene_variant | MODIFIER | NA18906.hp2 | a0041 | a0041c0047 | a0041c0047t0034 | a0041c0047t0034g0350 | 1 | 168 | 0.0060 | 50 | c.*43 others(61): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 2552 | chr16 | TogoVar | |||||||
CNGB1_chr16_57877340_57976128 | 57879799 | C | CTTTCTTT others(43): Show |
downstream_gene_variant | MODIFIER | HG03239.hp2 | a0002 | a0002c0005 | a0002c0005t0008 | a0002c0005t0008g0025 | 1 | 227 | 0.0044 | 50 | c.*43 others(61): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 2540 | chr16 | TogoVar | |||||||
CNGB1_chr16_57877340_57976128 | 57879799 | C | CTTTCTTT others(43): Show |
downstream_gene_variant | MODIFIER | HG03491.hp1 NA18980.hp2 NA19063.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0207 a0001c0001t0001g0262 a0001c0002t0001g0052 |
3 | 229 | 0.0131 | 50 | c.*43 others(61): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 2540 | chr16 | TogoVar | |||||||
CNKSR3_chr6_154382515_154515685 | 154382571 | A | AGGGAGGG others(43): Show |
downstream_gene_variant | MODIFIER | HG02922.hp2 HG02970.hp1 HG03579.hp2 |
a0001 | a0001c0002 | a0001c0002t0020a0001c0002t0066 | a0001c0002t0020g0235 a0001c0002t0020g0236 a0001c0002t0066g0043 |
3 | 332 | 0.0090 | 50 | c.*23 others(63): Show |
CNKSR3 | ENSG00000153721.19 | transcript | ENST00000607772.6 | protein_coding | 4943 | chr6 | TogoVar | |||||||
CNOT1_chr16_58514951_58634826 | 58516148 | G | GCGGGGCG others(43): Show |
downstream_gene_variant | MODIFIER | HG01257.hp1 HG01258.hp2 |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0129 a0001c0007t0001g0136 |
2 | 219 | 0.0091 | 50 | c.*48 others(61): Show |
CNOT1 | ENSG00000125107.19 | transcript | ENST00000317147.10 | protein_coding | 3802 | chr16 | TogoVar | |||||||
CNOT2_chr12_70238433_70359993 | 70281816 | T | TTAAATTT others(43): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01261.hp2 HG02109.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 others(9): Show |
12 | 256 | 0.0469 | 50 | c.48+ others(65): Show |
CNOT2 | ENSG00000111596.14 | transcript | ENST00000229195.8 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CNOT6_chr5_180489379_180583358 | 180533312 | C | CTATATGT others(43): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0076 | 1 | 76 | 0.0132 | 50 | c.112 others(67): Show |
CNOT6 | ENSG00000113300.13 | transcript | ENST00000261951.9 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CNTLN_chr9_17130040_17508923 | 17312364 | T | TATATTAT others(43): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0146 | 1 | 174 | 0.0057 | 50 | c.134 others(69): Show |
CNTLN | ENSG00000044459.15 | transcript | ENST00000380647.8 | protein_coding | 8/25 | chr9 | TogoVar | |||||||
CNTN4_chr3_2093866_3062959 | 2340710 | T | TATATATA others(43): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0061 | 1 | 15 | 0.0667 | 50 | c.-89 others(67): Show |
CNTN4 | ENSG00000144619.15 | transcript | ENST00000418658.6 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CNTN5_chr11_99015949_100363885 | 99369217 | A | AATATATA others(43): Show |
intron_variant | MODIFIER | HG00733.hp2 HG00735.hp2 HG02602.hp2 others(7): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0001g0053 a0001c0001t0004g0029 a0001c0001t0005g0048 others(7): Show |
10 | 17 | 0.5882 | 50 | c.-71 others(69): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CNTN6_chr3_1088024_1409217 | 1245304 | A | ATATATAA others(43): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0057 | 1 | 209 | 0.0048 | 50 | c.358 others(69): Show |
CNTN6 | ENSG00000134115.13 | transcript | ENST00000446702.7 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CNTNAP3B_chr9_41885536_42134426 | 41934112 | T | TATATATA others(43): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0048 | 1 | 83 | 0.0120 | 50 | c.223 others(69): Show |
CNTNAP3B | ENSG00000154529.15 | transcript | ENST00000377561.7 | protein_coding | 14/23 | chr9 | TogoVar | |||||||
CNTNAP4_chr16_76272401_76565757 | 76408351 | C | CTTAACAA others(43): Show |
intron_variant | MODIFIER | HG02257.hp2 HG03209.hp1 |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0004a0003c0006t0006 | a0001c0001t0004g0191 a0003c0006t0006g0205 |
2 | 241 | 0.0083 | 50 | c.391 others(69): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CNTNAP4_chr16_76272401_76565757 | 76470482 | A | AATATATA others(43): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02145.hp1 HG03486.hp1 |
a0002a0003 | a0002c0002a0002c0005a0003c0003 | a0002c0002t0023a0002c0005t0002a0003c0003t0011 | a0002c0002t0023g0265 a0002c0005t0002g0101 a0003c0003t0011g0246 |
3 | 100 | 0.0300 | 50 | c.165 others(69): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 10/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CNTNAP4_chr16_76272401_76565757 | 76470495 | A | ATATATAT others(43): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0060 | 1 | 184 | 0.0054 | 50 | c.165 others(69): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 10/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CNTNAP4_chr16_76272401_76565757 | 76522687 | C | CTTTCTTT others(43): Show |
intron_variant | MODIFIER | NA19085.hp2 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0221 | 1 | 164 | 0.0061 | 50 | c.275 others(67): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 17/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124510273 | C | CTATATCT others(43): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0042 | 1 | 48 | 0.0208 | 50 | c.132 others(69): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124571527 | C | CTTTTTCT others(43): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0055 | 1 | 7 | 0.1429 | 50 | c.175 others(69): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 11/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COBLL1_chr2_164675188_164846823 | 164805323 | C | CTATATAT others(43): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0003 | a0003c0004 | a0003c0004t0014 | a0003c0004t0014g0079 | 1 | 159 | 0.0063 | 50 | c.41+ others(67): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
COG3_chr13_45459939_45541701 | 45513217 | A | ATACATAT others(43): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02970.hp1 HG03490.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0244 |
3 | 131 | 0.0229 | 50 | c.180 others(69): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG6_chr13_39650662_39757628 | 39706255 | T | TTATATAT others(43): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 27 | 0.0370 | 50 | c.128 others(69): Show |
COG6 | ENSG00000133103.17 | transcript | ENST00000455146.8 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |