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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CCDC122_chr13_43831352_43884740 | 43879768 | G | GTGAGGCG others(42): Show |
upstream_gene_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 367 | 0.0027 | 49 | c.-33 others(58): Show |
CCDC122 | ENSG00000151773.13 | transcript | ENST00000444614.8 | protein_coding | 29 | chr13 | TogoVar | |||||||
CCDC126_chr7_23592382_23649708 | 23637111 | G | GTCCGGGA others(42): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0373 | 1 | 378 | 0.0026 | 49 | c.239 others(66): Show |
CCDC126 | ENSG00000169193.12 | transcript | ENST00000307471.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CCDC126_chr7_23592382_23649708 | 23637726 | C | CGGCCAGC others(42): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02630.hp2 HG02723.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 a0001c0001t0003g0171 a0001c0001t0003g0172 others(6): Show |
10 | 157 | 0.0637 | 49 | c.239 others(66): Show |
CCDC126 | ENSG00000169193.12 | transcript | ENST00000307471.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CCDC126_chr7_23592382_23649708 | 23637726 | C | CGGCCAGC others(42): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01243.hp1 HG02055.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0005a0002c0004t0005 | a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0308 others(5): Show |
8 | 155 | 0.0516 | 49 | c.239 others(66): Show |
CCDC126 | ENSG00000169193.12 | transcript | ENST00000307471.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CCDC12_chr3_46916730_46981745 | 46951798 | A | AAAAAAAA others(42): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0188 | 1 | 43 | 0.0233 | 49 | c.97- others(66): Show |
CCDC12 | ENSG00000160799.12 | transcript | ENST00000683445.1 | protein_coding | 1/6 | chr3 | TogoVar | |||||||
CCDC148_chr2_158166073_158461753 | 158433091 | A | AAAAAAAA others(42): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0252 | 1 | 66 | 0.0152 | 49 | c.25+ others(66): Show |
CCDC148 | ENSG00000153237.19 | transcript | ENST00000283233.10 | protein_coding | 1/13 | chr2 | TogoVar | |||||||
CCDC171_chr9_15548043_15979037 | 15883017 | C | CCTTCCTT others(42): Show |
intron_variant | MODIFIER | HG02109.hp1 NA20129.hp1 |
a0003 | a0003c0014 | a0003c0014t0004 | a0003c0014t0004g0065 a0003c0014t0004g0066 |
2 | 85 | 0.0235 | 49 | c.360 others(68): Show |
CCDC171 | ENSG00000164989.17 | transcript | ENST00000380701.8 | protein_coding | 24/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CCDC200_chr17_43216420_43233623 | 43225677 | A | AAGTATAT others(42): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01081.hp1 HG01257.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0037 a0001c0001t0002g0175 a0001c0001t0002g0224 others(1): Show |
5 | 202 | 0.0248 | 49 | c.106 others(66): Show |
CCDC200 | ENSG00000236383.9 | transcript | ENST00000636331.2 | protein_coding | 1/3 | chr17 | TogoVar | |||||||
CCDC200_chr17_43216420_43233623 | 43225693 | T | TATATATA others(42): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0088 | 1 | 204 | 0.0049 | 49 | c.106 others(66): Show |
CCDC200 | ENSG00000236383.9 | transcript | ENST00000636331.2 | protein_coding | 1/3 | chr17 | TogoVar | |||||||
CCDC38_chr12_95862048_95947614 | 95908443 | A | AAGAGGGG others(42): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0276 | 1 | 253 | 0.0040 | 49 | c.305 others(66): Show |
CCDC38 | ENSG00000165972.13 | transcript | ENST00000344280.8 | protein_coding | 4/15 | chr12 | TogoVar | |||||||
CCDC54_chr3_107372439_107383635 | 107374404 | A | ACCCAAAA others(42): Show |
upstream_gene_variant | MODIFIER | HG01515.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 1 | 398 | 0.0025 | 49 | c.-31 others(60): Show |
CCDC54 | ENSG00000138483.3 | transcript | ENST00000261058.3 | protein_coding | 3034 | chr3 | TogoVar | |||||||
CCDC66_chr3_56552175_56626837 | 56556842 | G | GGGGGGGG others(42): Show |
upstream_gene_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 109 | 0.0092 | 49 | c.-40 others(58): Show |
CCDC66 | ENSG00000180376.17 | transcript | ENST00000394672.8 | protein_coding | 332 | chr3 | TogoVar | |||||||
CCDC66_chr3_56552175_56626837 | 56556842 | G | GGGGGGGT others(42): Show |
upstream_gene_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 109 | 0.0092 | 49 | c.-40 others(58): Show |
CCDC66 | ENSG00000180376.17 | transcript | ENST00000394672.8 | protein_coding | 332 | chr3 | TogoVar | |||||||
CCDC66_chr3_56552175_56626837 | 56556842 | G | GGGGGTGT others(42): Show |
upstream_gene_variant | MODIFIER | HG02074.hp1 NA18986.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0164 |
2 | 110 | 0.0182 | 49 | c.-40 others(58): Show |
CCDC66 | ENSG00000180376.17 | transcript | ENST00000394672.8 | protein_coding | 332 | chr3 | TogoVar | |||||||
CCDC6_chr10_59783747_59911556 | 59899989 | T | TGAAGACA others(42): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0174 | 1 | 286 | 0.0035 | 49 | c.303 others(66): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
CCDC7_chr10_32441140_32887864 | 32828430 | G | GAAGGAGA others(42): Show |
intron_variant | MODIFIER | NA18940.hp2 NA18950.hp1 NA18954.hp2 others(5): Show |
a0001a0012 | a0001c0001a0012c0016 | a0001c0001t0001a0012c0016t0001 | a0001c0001t0001g0305 a0001c0001t0001g0322 a0001c0001t0001g0336 others(5): Show |
8 | 306 | 0.0261 | 49 | c.326 others(68): Show |
CCDC7 | ENSG00000216937.14 | transcript | ENST00000639629.2 | protein_coding | 33/43 | chr10 | TogoVar | |||||||
CCDC7_chr10_32441140_32887864 | 32828439 | G | GAAGGAGA others(42): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0169 | 1 | 211 | 0.0047 | 49 | c.326 others(68): Show |
CCDC7 | ENSG00000216937.14 | transcript | ENST00000639629.2 | protein_coding | 33/43 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CCDC87_chr11_66585176_66598063 | 66588325 | A | ACCCCGTC others(42): Show |
downstream_gene_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0000 | 1 | 384 | 0.0026 | 49 | c.*21 others(60): Show |
CCDC87 | ENSG00000182791.5 | transcript | ENST00000333861.5 | protein_coding | 1850 | chr11 | TogoVar | |||||||
CCL3_chr17_36083256_36095143 | 36090786 | G | GAGTTCTG others(42): Show |
upstream_gene_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 380 | 0.0026 | 49 | c.-72 others(58): Show |
CCL3 | ENSG00000277632.2 | transcript | ENST00000613922.2 | protein_coding | 644 | chr17 | TogoVar | |||||||
CCNB1IP1_chr14_20306370_20338279 | 20310304 | A | AGTCAGCC others(42): Show |
downstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 308 | 0.0032 | 49 | c.*12 others(60): Show |
CCNB1IP1 | ENSG00000100814.19 | transcript | ENST00000358932.9 | protein_coding | 1065 | chr14 | TogoVar | |||||||
CCNB1IP1_chr14_20306370_20338279 | 20310304 | A | AGTCAGCC others(42): Show |
downstream_gene_variant | MODIFIER | HG02258.hp1 HG02258.hp2 HG02451.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0033 a0001c0001t0001g0153 others(4): Show |
8 | 315 | 0.0254 | 49 | c.*12 others(60): Show |
CCNB1IP1 | ENSG00000100814.19 | transcript | ENST00000358932.9 | protein_coding | 1065 | chr14 | TogoVar | |||||||
CCNB1IP1_chr14_20306370_20338279 | 20310574 | A | AGCCAGCC others(42): Show |
downstream_gene_variant | MODIFIER | HG01081.hp2 HG01255.hp2 HG02559.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0160 others(3): Show |
6 | 383 | 0.0157 | 49 | c.*97 others(58): Show |
CCNB1IP1 | ENSG00000100814.19 | transcript | ENST00000358932.9 | protein_coding | 795 | chr14 | TogoVar | |||||||
CCNB1IP1_chr14_20306370_20338279 | 20310609 | C | CCAGCCCC others(42): Show |
downstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0271 | 1 | 282 | 0.0035 | 49 | c.*94 others(58): Show |
CCNB1IP1 | ENSG00000100814.19 | transcript | ENST00000358932.9 | protein_coding | 760 | chr14 | TogoVar | |||||||
CCNB1IP1_chr14_20306370_20338279 | 20310619 | G | GCCCGGCC others(42): Show |
downstream_gene_variant | MODIFIER | HG02257.hp1 HG02723.hp1 HG02922.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 a0001c0001t0001g0140 a0001c0001t0001g0188 |
4 | 366 | 0.0109 | 49 | c.*93 others(58): Show |
CCNB1IP1 | ENSG00000100814.19 | transcript | ENST00000358932.9 | protein_coding | 750 | chr14 | TogoVar | |||||||
CCNB1_chr5_69162150_69183245 | 69164026 | A | AAAAAAAA others(42): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0005 | 1 | 139 | 0.0072 | 49 | c.-32 others(60): Show |
CCNB1 | ENSG00000134057.15 | transcript | ENST00000256442.10 | protein_coding | 3123 | chr5 | TogoVar | |||||||
CCS_chr11_66588185_66611019 | 66588325 | A | ACCCCGTC others(42): Show |
upstream_gene_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 402 | 0.0025 | 49 | c.-49 others(60): Show |
CCS | ENSG00000173992.9 | transcript | ENST00000533244.6 | protein_coding | 4859 | chr11 | TogoVar | |||||||
CD247_chr1_167425640_167523529 | 167434947 | C | CTCCTCCA others(42): Show |
intron_variant | MODIFIER | HG00609.hp1 NA18947.hp1 NA18990.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0333 a0001c0001t0002g0183 a0001c0001t0002g0197 others(1): Show |
4 | 180 | 0.0222 | 49 | c.336 others(64): Show |
CD247 | ENSG00000198821.12 | transcript | ENST00000362089.10 | protein_coding | 5/7 | chr1 | TogoVar | |||||||
CD247_chr1_167425640_167523529 | 167483015 | T | TCTTTCTT others(42): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 368 | 0.0027 | 49 | c.58+ others(66): Show |
CD247 | ENSG00000198821.12 | transcript | ENST00000362089.10 | protein_coding | 1/7 | chr1 | TogoVar | |||||||
CD8B_chr2_86833167_86866886 | 86833545 | T | TCCATCCT others(42): Show |
downstream_gene_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0012 | 1 | 390 | 0.0026 | 49 | c.*87 others(60): Show |
CD8B | ENSG00000172116.23 | transcript | ENST00000390655.12 | protein_coding | 4621 | chr2 | TogoVar | |||||||
CDC14A_chr1_100347506_100525277 | 100412723 | T | TATATATA others(42): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0237 | 1 | 290 | 0.0034 | 49 | c.310 others(68): Show |
CDC14A | ENSG00000079335.20 | transcript | ENST00000336454.5 | protein_coding | 4/15 | chr1 | TogoVar | |||||||
CDH12_chr5_21745673_22858344 | 21833307 | G | GTTATATA others(42): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0049 | 1 | 58 | 0.0172 | 49 | c.814 others(66): Show |
CDH12 | ENSG00000154162.15 | transcript | ENST00000382254.6 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
CDH4_chr20_61247261_61945617 | 61647536 | T | TCTCTCTC others(42): Show |
intron_variant | MODIFIER | HG02723.hp1 HG04204.hp2 |
a0001a0002 | a0001c0006a0002c0009 | a0001c0006t0006a0002c0009t0031 | a0001c0006t0006g0036 a0002c0009t0031g0009 |
2 | 87 | 0.0230 | 49 | c.170 others(68): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CDH5_chr16_66361691_66409784 | 66405636 | A | ATCCCAAC others(42): Show |
downstream_gene_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0007 | a0001c0007t0014 | a0001c0007t0014g0061 | 1 | 402 | 0.0025 | 49 | c.*24 others(60): Show |
CDH5 | ENSG00000179776.20 | transcript | ENST00000341529.8 | protein_coding | 853 | chr16 | TogoVar | |||||||
CDH7_chr18_65746012_65895337 | 65782107 | C | CTTCCTTC others(42): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0002 | a0002c0002 | a0002c0002t0052 | a0002c0002t0052g0084 | 1 | 149 | 0.0067 | 49 | c.210 others(68): Show |
CDH7 | ENSG00000081138.14 | transcript | ENST00000397968.4 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CDIN1_chr15_36574626_36815244 | 36703219 | A | AATATATA others(42): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0081 | 1 | 67 | 0.0149 | 49 | c.544 others(66): Show |
CDIN1 | ENSG00000186073.14 | transcript | ENST00000566621.6 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CDK14_chr7_90591321_91215590 | 90744645 | C | CCCCCCAC others(42): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02258.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0021 | a0001c0001t0006g0108 a0001c0002t0021g0107 |
2 | 166 | 0.0120 | 49 | c.370 others(66): Show |
CDK14 | ENSG00000058091.17 | transcript | ENST00000380050.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CDKN2A_chr9_21962752_21979857 | 21971575 | A | ATTTTTTT others(42): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0087 | 1 | 67 | 0.0149 | 49 | c.151 others(64): Show |
CDKN2A | ENSG00000147889.18 | transcript | ENST00000304494.10 | protein_coding | 1/2 | chr9 | TogoVar | |||||||
CDKN2A_chr9_21962752_21999392 | 21971575 | A | ATTTTTTT others(42): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0295 | 1 | 62 | 0.0161 | 49 | c.194 others(64): Show |
CDKN2A | ENSG00000147889.18 | transcript | ENST00000579755.2 | protein_coding | 1/2 | chr9 | TogoVar | |||||||
CELA3B_chr1_21972022_21994354 | 21986810 | G | GGGGACGA others(42): Show |
intron_variant | MODIFIER | NA18987.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0118 | 1 | 442 | 0.0023 | 49 | c.795 others(64): Show |
CELA3B | ENSG00000219073.8 | transcript | ENST00000337107.11 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CELF2_chr10_11012872_11341675 | 11197025 | A | AAAGAAAG others(42): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0004 | 1 | 8 | 0.1250 | 49 | c.272 others(68): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CEP104_chr1_3807086_3862211 | 3820494 | C | CGCCTCTG others(42): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG00735.hp2 others(23): Show |
a0001a0017 | a0001c0001a0017c0023 | a0001c0001t0004a0001c0001t0026a0017c0023t0004 | a0001c0001t0004g0006 a0001c0001t0004g0141 a0001c0001t0004g0142 others(19): Show |
26 | 181 | 0.1436 | 49 | c.257 others(68): Show |
CEP104 | ENSG00000116198.14 | transcript | ENST00000378230.8 | protein_coding | 20/21 | chr1 | TogoVar | |||||||
CEP104_chr1_3807086_3862211 | 3820494 | C | CGCCTCTG others(42): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(196): Show |
a0001a0003a0004others(10): Show | a0001c0001a0001c0006a0003c0003others(12): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(34): Show | a0001c0001t0003g0009 a0001c0001t0003g0026 a0001c0001t0003g0027 others(160): Show |
199 | 354 | 0.5621 | 49 | c.257 others(68): Show |
CEP104 | ENSG00000116198.14 | transcript | ENST00000378230.8 | protein_coding | 20/21 | chr1 | TogoVar | |||||||
CEP72_chr5_607340_658553 | 650984 | G | GTGAGGTG others(42): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 88 | 0.0114 | 49 | c.177 others(68): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CERS3_chr15_100395395_100533950 | 100466829 | C | CTCTTTCT others(42): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0079 | 1 | 359 | 0.0028 | 49 | c.845 others(66): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 10/11 | chr15 | TogoVar | |||||||
CERS3_chr15_100395395_100533950 | 100466831 | C | CTTTCTCT others(42): Show |
intron_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0091 | 1 | 355 | 0.0028 | 49 | c.845 others(66): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 10/11 | chr15 | TogoVar | |||||||
CERS3_chr15_100395395_100533950 | 100466831 | C | CTTTCTCT others(42): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0277 | 1 | 355 | 0.0028 | 49 | c.845 others(66): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 10/11 | chr15 | TogoVar | |||||||
CERS3_chr15_100395395_100533950 | 100466833 | C | CTTCTCTC others(42): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0067 | 1 | 252 | 0.0040 | 49 | c.845 others(66): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 10/11 | chr15 | TogoVar | |||||||
CERS3_chr15_100395395_100533950 | 100466839 | C | CTTTCTCT others(42): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0280 | 1 | 354 | 0.0028 | 49 | c.845 others(66): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 10/11 | chr15 | TogoVar | |||||||
CERS6_chr2_168451272_168780134 | 168631830 | A | ATATATTT others(42): Show |
intron_variant | MODIFIER | HG02071.hp2 NA18945.hp1 NA18949.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0035others(1): Show | a0001c0001t0001g0147 a0001c0001t0001g0154 a0001c0001t0002g0001 others(7): Show |
10 | 174 | 0.0575 | 49 | c.465 others(64): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80799332 | A | AATATTTA others(42): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0050 | 1 | 96 | 0.0104 | 49 | c.334 others(68): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |