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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NPSR1_chr7_34653218_34854978 | 34800834 | A | AAAAAAAG others(875): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0239 | 1 | 11 | 0.0909 | 882 | c.385 others(901): Show |
NPSR1 | ENSG00000187258.14 | transcript | ENST00000360581.6 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
NPSR1_chr7_34653218_34854978 | 34800834 | A | AAAAAAAG others(875): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00733.hp2 HG00741.hp1 others(45): Show |
a0001a0003a0006others(4): Show | a0001c0002a0001c0008a0003c0005others(6): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0005others(14): Show | a0001c0002t0002g0136 a0001c0002t0002g0137 a0001c0002t0002g0207 others(45): Show |
48 | 58 | 0.8276 | 882 | c.385 others(901): Show |
NPSR1 | ENSG00000187258.14 | transcript | ENST00000360581.6 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
NPSR1_chr7_34653218_34854978 | 34800834 | A | AAAAAAAG others(875): Show |
intron_variant | MODIFIER | HG03098.hp1 HG03225.hp2 |
a0013 | a0013c0015 | a0013c0015t0002 | a0013c0015t0002g0168 a0013c0015t0002g0169 |
2 | 12 | 0.1667 | 882 | c.385 others(901): Show |
NPSR1 | ENSG00000187258.14 | transcript | ENST00000360581.6 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(875): Show |
downstream_gene_variant | MODIFIER | HG00741.hp1 NA20905.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 2 | 136 | 0.0147 | 882 | c.*31 others(893): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | |||||||
PITPNM1_chr11_67486768_67510363 | 67499576 | T | TCCATCAT others(875): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 233 | 0.0043 | 882 | c.117 others(899): Show |
PITPNM1 | ENSG00000110697.13 | transcript | ENST00000356404.8 | protein_coding | 8/23 | chr11 | TogoVar | |||||||
PRKCZ_chr1_2045411_2190395 | 2106663 | T | TGTCACCA others(875): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0260 | 1 | 216 | 0.0046 | 882 | c.335 others(901): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113161802 | T | TCACATCC others(875): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0264 | 1 | 364 | 0.0027 | 882 | c.259 others(897): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113161924 | C | CTCCCCCC others(875): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0207 | 1 | 155 | 0.0065 | 882 | c.260 others(899): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PRPF31_chr19_54110754_54136713 | 54133762 | C | CCAGGCGG others(875): Show |
downstream_gene_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 194 | 0.0052 | 882 | c.*23 others(893): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2050 | chr19 | TogoVar | |||||||
RPTOR_chr17_80539838_80971368 | 80744101 | T | TAGCAGAG others(875): Show |
intron_variant | MODIFIER | HG01516.hp2 HG01517.hp2 |
a0001 | a0001c0036 | a0001c0036t0004 | a0001c0036t0004g0167 a0001c0036t0004g0168 |
2 | 172 | 0.0116 | 882 | c.655 others(899): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80744883 | C | CCCTGGCT others(875): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0022 | a0001c0022t0001 | a0001c0022t0001g0170 | 1 | 150 | 0.0067 | 882 | c.655 others(899): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31431776 | A | AATAGGGT others(875): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0045 | 1 | 259 | 0.0039 | 882 | c.101 others(901): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31431953 | G | GTGGATAG others(875): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0349 | 1 | 365 | 0.0027 | 882 | c.101 others(901): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31431994 | T | TAGGGTGG others(875): Show |
intron_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0019 | 1 | 314 | 0.0032 | 882 | c.101 others(899): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432012 | T | TAGGGTGG others(875): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0328 | 1 | 278 | 0.0036 | 882 | c.101 others(899): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432092 | A | ATAGGGTG others(875): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0242 | 1 | 365 | 0.0027 | 882 | c.101 others(899): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | chr1 | TogoVar | |||||||
SERINC2_chr1_31408213_31439678 | 31432174 | T | TAGGGTGG others(875): Show |
intron_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0181 | 1 | 228 | 0.0044 | 882 | c.101 others(899): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPEF2_chr5_35612863_35819611 | 35708695 | C | CCATCACC others(875): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0066 | 1 | 94 | 0.0106 | 882 | c.266 others(899): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 18/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
STK24_chr13_98440185_98582107 | 98473274 | G | GGAGAGGA others(875): Show |
intron_variant | MODIFIER | HG01884.hp2 HG01975.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0027a0001c0001t0030 | a0001c0001t0027g0226 a0001c0001t0027g0260 a0001c0001t0030g0261 |
3 | 5 | 0.6000 | 882 | c.597 others(899): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | |||||||
TERT_chr5_1248167_1300068 | 1290954 | T | TGACAGGG others(875): Show |
intron_variant | MODIFIER | NA18963.hp2 NA18969.hp2 NA19007.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 |
3 | 351 | 0.0085 | 882 | c.157 others(901): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 2/15 | chr5 | TogoVar | |||||||
TERT_chr5_1248167_1300068 | 1290954 | T | TGACAGGG others(875): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG01071.hp1 others(14): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 others(14): Show |
17 | 365 | 0.0466 | 882 | c.157 others(901): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 2/15 | chr5 | TogoVar | |||||||
TERT_chr5_1248167_1300068 | 1290954 | T | TGACAGGG others(875): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 349 | 0.0029 | 882 | c.157 others(901): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 2/15 | chr5 | TogoVar | |||||||
TERT_chr5_1248167_1300068 | 1290954 | T | TGACAGGG others(875): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01515.hp1 HG02523.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0161 a0001c0001t0001g0162 others(3): Show |
7 | 355 | 0.0197 | 882 | c.157 others(901): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 2/15 | chr5 | TogoVar | |||||||
TNNT3_chr11_1914703_1943702 | 1939626 | C | CACACACA others(875): Show |
downstream_gene_variant | MODIFIER | HG03688.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0020 | 1 | 8 | 0.1250 | 882 | c.*11 others(893): Show |
TNNT3 | ENSG00000130595.20 | transcript | ENST00000278317.11 | protein_coding | 925 | chr11 | TogoVar | |||||||
TOLLIP_chr11_1269371_1314632 | 1287836 | C | CGCCGCAC others(875): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0033 | 1 | 162 | 0.0062 | 882 | c.519 others(897): Show |
TOLLIP | ENSG00000078902.16 | transcript | ENST00000317204.11 | protein_coding | 4/5 | chr11 | TogoVar | |||||||
TOX_chr8_58800412_59124147 | 59092264 | T | TATATATA others(875): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 a0001c0001t0001g0177 |
2 | 215 | 0.0093 | 882 | c.102 others(901): Show |
TOX | ENSG00000198846.6 | transcript | ENST00000361421.2 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
TRIM48_chr11_55257155_55276114 | 55273256 | T | TTATATAT others(875): Show |
downstream_gene_variant | MODIFIER | HG02896.hp1 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0013 a0001c0001t0008g0013 |
2 | 253 | 0.0079 | 882 | c.*28 others(893): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 2143 | chr11 | TogoVar | |||||||
TRIM48_chr11_55257155_55276114 | 55273323 | T | TTATATAT others(875): Show |
downstream_gene_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 144 | 0.0069 | 882 | c.*28 others(893): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 2210 | chr11 | TogoVar | |||||||
TWIST2_chr2_238843085_238915534 | 238870361 | A | ACACCACA others(875): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0277 | 1 | 312 | 0.0032 | 882 | c.*35 others(901): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131917307 | G | GGCTGTGG others(875): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0136 | 1 | 89 | 0.0112 | 882 | c.218 others(899): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
USP2_chr11_119350215_119386690 | 119351510 | C | CCTCCTCT others(875): Show |
downstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0123 | 1 | 2 | 0.5000 | 882 | c.*53 others(893): Show |
USP2 | ENSG00000036672.16 | transcript | ENST00000260187.7 | protein_coding | 3704 | chr11 | TogoVar | |||||||
USP2_chr11_119350215_119386690 | 119351510 | C | CCTCCTCT others(875): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 2 | 0.5000 | 882 | c.*53 others(893): Show |
USP2 | ENSG00000036672.16 | transcript | ENST00000260187.7 | protein_coding | 3704 | chr11 | TogoVar | |||||||
USP2_chr11_119350215_119386690 | 119351510 | C | CCTCCTCT others(875): Show |
downstream_gene_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 2 | 0.5000 | 882 | c.*53 others(893): Show |
USP2 | ENSG00000036672.16 | transcript | ENST00000260187.7 | protein_coding | 3704 | chr11 | TogoVar | |||||||
VCX_chrX_7838171_7849143 | 7844213 | A | AGGGAGGG others(875): Show |
downstream_gene_variant | MODIFIER | NA18949.hp2 | a0022 | a0022c0029 | a0022c0029t0002 | a0022c0029t0002g0001 | 1 | 294 | 0.0034 | 882 | c.*19 others(891): Show |
VCX | ENSG00000182583.13 | transcript | ENST00000688183.1 | protein_coding | 71 | chrX | TogoVar | |||||||
ZBTB34_chr9_126855639_126890878 | 126876197 | T | TCCCCCTT others(875): Show |
intron_variant | MODIFIER | HG02965.hp2 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 2 | 101 | 0.0198 | 882 | c.-10 others(899): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | chr9 | TogoVar | |||||||
ACSF3_chr16_89088852_89161233 | 89137230 | A | ATCCCGGG others(876): Show |
intron_variant | MODIFIER | HG03453.hp2 HG03486.hp1 NA19240.hp1 |
a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0077 a0002c0003t0005g0079 a0002c0003t0005g0080 |
3 | 364 | 0.0082 | 883 | c.136 others(902): Show |
ACSF3 | ENSG00000176715.17 | transcript | ENST00000614302.5 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133111675 | C | CACCACAG others(876): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0003 | a0001c0003t0016 | a0001c0003t0016g0108 | 1 | 180 | 0.0056 | 883 | c.401 others(900): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | chr10 | TogoVar | |||||||
ADGRA1_chr10_133082924_133136675 | 133111930 | C | CACAGACA others(876): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0004 | a0001c0004t0009 | a0001c0004t0009g0321 | 1 | 364 | 0.0027 | 883 | c.401 others(900): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | chr10 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113419038 | C | CCCCTTCC others(876): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0002 | 1 | 206 | 0.0049 | 883 | c.106 others(902): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | |||||||
ANO9_chr11_412938_447011 | 431600 | C | CGTGGGGG others(876): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0062 | 1 | 33 | 0.0303 | 883 | c.539 others(896): Show |
ANO9 | ENSG00000185101.13 | transcript | ENST00000332826.7 | protein_coding | 7/22 | chr11 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144687639 | T | TGAGCACT others(876): Show |
upstream_gene_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 225 | 0.0044 | 883 | c.-20 others(894): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1794 | chr8 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 835488 | A | AGCCCCCA others(876): Show |
downstream_gene_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 299 | 0.0033 | 883 | c.*36 others(894): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3471 | chr19 | TogoVar | |||||||
CAMK2B_chr7_44212154_44330594 | 44254776 | T | TACCATCA others(876): Show |
intron_variant | MODIFIER | HG02257.hp2 HG06807.hp2 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0037 a0001c0003t0002g0139 |
2 | 155 | 0.0129 | 883 | c.276 others(898): Show |
CAMK2B | ENSG00000058404.21 | transcript | ENST00000395749.7 | protein_coding | 4/23 | chr7 | TogoVar | |||||||
CAMK2B_chr7_44212154_44330594 | 44254776 | T | TACCATCA others(876): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02056.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0002 | a0001c0002t0001g0057 a0001c0003t0002g0064 |
2 | 155 | 0.0129 | 883 | c.276 others(898): Show |
CAMK2B | ENSG00000058404.21 | transcript | ENST00000395749.7 | protein_coding | 4/23 | chr7 | TogoVar | |||||||
CAMK2B_chr7_44212154_44330594 | 44254776 | T | TACCATCA others(876): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01123.hp1 HG01358.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0002t0004a0001c0003t0006others(1): Show | a0001c0001t0002g0086 a0001c0002t0004g0087 a0001c0002t0004g0088 others(2): Show |
5 | 158 | 0.0316 | 883 | c.276 others(898): Show |
CAMK2B | ENSG00000058404.21 | transcript | ENST00000395749.7 | protein_coding | 4/23 | chr7 | TogoVar | |||||||
CAMK2B_chr7_44212154_44330594 | 44254776 | T | TACCATCA others(876): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0213 | 1 | 154 | 0.0065 | 883 | c.276 others(898): Show |
CAMK2B | ENSG00000058404.21 | transcript | ENST00000395749.7 | protein_coding | 4/23 | chr7 | TogoVar | |||||||
CAMK2B_chr7_44212154_44330594 | 44254776 | T | TACCATCA others(876): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0157 | 1 | 154 | 0.0065 | 883 | c.276 others(898): Show |
CAMK2B | ENSG00000058404.21 | transcript | ENST00000395749.7 | protein_coding | 4/23 | chr7 | TogoVar | |||||||
CCDC183_chr9_136791338_136812741 | 136803215 | G | GGGGGCCC others(876): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0007 | 1 | 332 | 0.0030 | 883 | c.666 others(898): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CCDC57_chr17_82096470_82217842 | 82215697 | C | CCCCCACA others(876): Show |
upstream_gene_variant | MODIFIER | HG01256.hp1 HG01258.hp2 |
a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0103 a0003c0004t0003g0104 |
2 | 57 | 0.0351 | 883 | c.-29 others(894): Show |
CCDC57 | ENSG00000176155.21 | transcript | ENST00000694881.1 | protein_coding | 2856 | chr17 | TogoVar | |||||||
CCDC6_chr10_59783747_59911556 | 59882566 | G | GCGGGGAG others(876): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0019 | 1 | 139 | 0.0072 | 883 | c.303 others(902): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar |