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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADGRA1_chr10_133082924_133136675 | 133111515 | A | ACACCTCC others(413): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0003 | a0001c0003t0043 | a0001c0003t0043g0027 | 1 | 215 | 0.0047 | 420 | c.401 others(437): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133111744 | A | ACCAGACC others(413): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0002 | a0001c0002t0064 | a0001c0002t0064g0160 | 1 | 283 | 0.0035 | 420 | c.401 others(437): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133111867 | C | CCCTCCAG others(413): Show |
intron_variant | MODIFIER | NA19067.hp2 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0310 | 1 | 329 | 0.0030 | 420 | c.401 others(437): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133111919 | C | CACCTGCC others(413): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0153 | 1 | 298 | 0.0034 | 420 | c.401 others(437): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133112019 | A | ACACCTCC others(413): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0010 | a0001c0010t0011 | a0001c0010t0011g0050 | 1 | 216 | 0.0046 | 420 | c.401 others(437): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133112019 | A | ACACCTCC others(413): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0334 | 1 | 216 | 0.0046 | 420 | c.401 others(437): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADGRG2_chrX_18984307_19127468 | 19074544 | T | TTTCTTCT others(413): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 123 | 0.0081 | 420 | c.-1- others(435): Show |
ADGRG2 | ENSG00000173698.18 | transcript | ENST00000379869.8 | protein_coding | 2/28 | chrX | TogoVar | |||||||
ADGRG2_chrX_18984307_19127468 | 19074563 | T | TTCTCCTT others(413): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 185 | 0.0054 | 420 | c.-1- others(435): Show |
ADGRG2 | ENSG00000173698.18 | transcript | ENST00000379869.8 | protein_coding | 2/28 | chrX | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113418980 | T | TTCCCTCC others(413): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0027 | a0027c0023 | a0027c0023t0030 | a0027c0023t0030g0137 | 1 | 228 | 0.0044 | 420 | c.106 others(439): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113419038 | C | CCCCTTCC others(413): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0002 | a0002c0003 | a0002c0003t0008 | a0002c0003t0008g0027 | 1 | 206 | 0.0049 | 420 | c.106 others(439): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113419038 | C | CCCCTTCC others(413): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0002 | a0002c0003 | a0002c0003t0089 | a0002c0003t0089g0075 | 1 | 206 | 0.0049 | 420 | c.106 others(439): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113435614 | G | GTAGGGTG others(413): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0093 | 1 | 260 | 0.0038 | 420 | c.380 others(437): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 2/7 | chr13 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113436099 | C | CGGGACCC others(413): Show |
intron_variant | MODIFIER | HG02074.hp1 HG02135.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0076 | a0001c0001t0001g0169 a0002c0002t0076g0020 |
2 | 260 | 0.0077 | 420 | c.380 others(437): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 2/7 | chr13 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113436718 | T | TAGGTGTA others(413): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00673.hp2 others(54): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0002c0002others(14): Show | a0001c0001t0001a0001c0004t0004a0002c0002t0002others(27): Show | a0001c0001t0001g0017 a0001c0001t0001g0163 a0001c0001t0001g0166 others(54): Show |
57 | 254 | 0.2244 | 420 | c.380 others(437): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 2/7 | chr13 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113436718 | T | TAGGTGTA others(413): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0002 | a0002c0008 | a0002c0008t0028 | a0002c0008t0028g0196 | 1 | 198 | 0.0051 | 420 | c.380 others(437): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 2/7 | chr13 | TogoVar | |||||||
AGMO_chr7_15195317_15567015 | 15529882 | G | GATATTCT others(413): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0216 | 1 | 224 | 0.0045 | 420 | c.409 others(439): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | |||||||
ANKRD29_chr18_23593926_23667911 | 23615974 | C | CTATGTAT others(413): Show |
intron_variant | MODIFIER | HG02280.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0022 a0001c0001t0009g0098 |
2 | 180 | 0.0111 | 420 | c.723 others(437): Show |
ANKRD29 | ENSG00000154065.17 | transcript | ENST00000592179.6 | protein_coding | 8/9 | chr18 | TogoVar | |||||||
ARHGEF10_chr8_1818926_1963641 | 1824952 | T | TCCCCGCA others(413): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0198 | 1 | 192 | 0.0052 | 420 | c.-48 others(435): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1825069 | C | CCCCGCAC others(413): Show |
intron_variant | MODIFIER | HG02135.hp1 NA18974.hp2 |
a0001 | a0001c0016a0001c0071 | a0001c0016t0014a0001c0071t0002 | a0001c0016t0014g0166 a0001c0071t0002g0164 |
2 | 361 | 0.0055 | 420 | c.-48 others(435): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1825116 | C | CCCACCTG others(413): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0007 | a0007c0148 | a0007c0148t0002 | a0007c0148t0002g0003 | 1 | 327 | 0.0031 | 420 | c.-48 others(437): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | chr8 | TogoVar | |||||||
ARHGEF10_chr8_1818926_1963641 | 1825135 | C | CCCACCTG others(413): Show |
intron_variant | MODIFIER | HG02148.hp2 NA18967.hp2 |
a0001 | a0001c0006a0001c0156 | a0001c0006t0001a0001c0156t0002 | a0001c0006t0001g0009 a0001c0156t0002g0006 |
2 | 343 | 0.0058 | 420 | c.-48 others(437): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARMCX4_chrX_101480456_101500807 | 101494029 | G | GGGGCTGA others(413): Show |
disruptive_inframe_insertion | MODERATE | HG00438.hp2 HG01346.hp1 HG01884.hp1 others(17): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0004 a0003c0003t0001g0010 a0003c0003t0001g0011 others(4): Show |
20 | 22 | 0.9091 | 420 | c.546 others(429): Show |
p.Gly others(435): Show |
ARMCX4 | ENSG00000196440.12 | transcript | ENST00000423738.5 | protein_coding | 6/6 | 5973/7729 | 5462/6873 | 1821/2290 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
ARMCX4_chrX_101480456_101500807 | 101494029 | G | GGGGCTGA others(413): Show |
disruptive_inframe_insertion | MODERATE | HG01943.hp1 | a0022 | a0022c0049 | a0022c0049t0001 | a0022c0049t0001g0002 | 1 | 3 | 0.3333 | 420 | c.546 others(429): Show |
p.Gly others(435): Show |
ARMCX4 | ENSG00000196440.12 | transcript | ENST00000423738.5 | protein_coding | 6/6 | 5973/7729 | 5462/6873 | 1821/2290 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
ASB5_chr4_176208673_176274222 | 176218280 | T | TATATATA others(413): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0259 | 1 | 384 | 0.0026 | 420 | c.671 others(437): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | |||||||
ASMTL_chrX_1398139_1457909 | 1408166 | C | CCTCCAGC others(413): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0177 | 1 | 180 | 0.0056 | 420 | c.164 others(439): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 12/12 | chrX | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160653921 | A | AATATATG others(413): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0011 | a0011c0031 | a0011c0031t0001 | a0011c0031t0001g0150 | 1 | 98 | 0.0102 | 420 | c.676 others(437): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 7/25 | chr5 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 82971659 | A | ACAGGGGC others(413): Show |
intron_variant | MODIFIER | NA18967.hp1 NA19012.hp2 |
a0001 | a0001c0007a0001c0008 | a0001c0007t0005a0001c0008t0005 | a0001c0007t0005g0232 a0001c0008t0005g0191 |
2 | 232 | 0.0086 | 420 | c.460 others(437): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 82971659 | A | ACAGGGGC others(413): Show |
intron_variant | MODIFIER | NA18966.hp2 NA19070.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0033 a0001c0004t0001g0040 |
2 | 232 | 0.0086 | 420 | c.460 others(437): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 82971659 | A | ACAGGGGC others(413): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0002 | a0002c0015 | a0002c0015t0003 | a0002c0015t0003g0045 | 1 | 231 | 0.0043 | 420 | c.460 others(437): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 82971954 | G | GCTGACCA others(413): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0002 | a0002c0005 | a0002c0005t0003 | a0002c0005t0003g0163 | 1 | 258 | 0.0039 | 420 | c.460 others(437): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
BFSP2_chr3_133395056_133480208 | 133425964 | A | AGGGGAGG others(413): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 | 1 | 254 | 0.0039 | 420 | c.490 others(439): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
C10orf90_chr10_126419997_126675693 | 126672875 | C | CCCGAGAC others(413): Show |
upstream_gene_variant | MODIFIER | HG02630.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0027 | 1 | 183 | 0.0055 | 420 | c.-23 others(431): Show |
C10orf90 | ENSG00000154493.20 | transcript | ENST00000488181.3 | protein_coding | 2183 | chr10 | TogoVar | |||||||
C17orf67_chr17_56786913_56838920 | 56792819 | G | GTGATGGT others(413): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01243.hp2 HG02055.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0017 a0001c0001t0004g0190 a0001c0001t0004g0191 others(4): Show |
9 | 237 | 0.0380 | 420 | c.*21 others(435): Show |
C17orf67 | ENSG00000214226.9 | transcript | ENST00000397861.7 | protein_coding | 7/7 | chr17 | TogoVar | |||||||
C17orf67_chr17_56786913_56838920 | 56792825 | G | GTGATGGT others(413): Show |
intron_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 55 | 0.0182 | 420 | c.*21 others(435): Show |
C17orf67 | ENSG00000214226.9 | transcript | ENST00000397861.7 | protein_coding | 7/7 | chr17 | TogoVar | |||||||
C1QTNF8_chr16_1083226_1101244 | 1092754 | A | AGCACACA others(413): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 361 | 0.0028 | 420 | c.*4+ others(433): Show |
C1QTNF8 | ENSG00000184471.10 | transcript | ENST00000328449.6 | protein_coding | 4/4 | chr16 | TogoVar | |||||||
C1orf159_chr1_1076823_1121089 | 1077811 | G | GGGGAGGC others(413): Show |
downstream_gene_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 280 | 0.0036 | 420 | c.*50 others(431): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 4011 | chr1 | TogoVar | |||||||
C1orf159_chr1_1076823_1121089 | 1078349 | G | GCCGGGAG others(413): Show |
downstream_gene_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0055 | 1 | 250 | 0.0040 | 420 | c.*45 others(431): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 3473 | chr1 | TogoVar | |||||||
CACNA1H_chr16_1148106_1226768 | 1185658 | A | ATAGGGCC others(413): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0002 | a0002c0008 | a0002c0008t0002 | a0002c0008t0002g0232 | 1 | 103 | 0.0097 | 420 | c.300 others(437): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1190953 | T | TTGTGTGG others(413): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0090 | 1 | 328 | 0.0030 | 420 | c.300 others(437): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1204952 | G | GGGGCCCC others(413): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0016 | 1 | 284 | 0.0035 | 420 | c.245 others(437): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1204952 | G | GGGGCCCC others(413): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00738.hp1 HG01106.hp1 others(29): Show |
a0002a0003a0005others(10): Show | a0002c0002a0002c0008a0002c0039others(14): Show | a0002c0002t0001a0002c0008t0001a0002c0039t0003others(15): Show | a0002c0002t0001g0005 a0002c0002t0001g0007 a0002c0002t0001g0008 others(29): Show |
32 | 315 | 0.1016 | 420 | c.245 others(437): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1204952 | G | GGGGCCCC others(413): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01167.hp2 |
a0018 | a0018c0029 | a0018c0029t0001 | a0018c0029t0001g0170 a0018c0029t0001g0183 |
2 | 285 | 0.0070 | 420 | c.245 others(437): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54736014 | T | TACATATA others(413): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 115 | 0.0087 | 420 | c.116 others(441): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 11/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54736093 | A | ACATATAT others(413): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 112 | 0.0089 | 420 | c.116 others(441): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 11/37 | chr3 | TogoVar | |||||||
CACNB4_chr2_151827771_152104044 | 152074609 | C | CCATCACC others(413): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0205 | 1 | 132 | 0.0076 | 420 | c.147 others(439): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
CALN1_chr7_71774491_72417338 | 72209189 | T | TTTCCTTC others(413): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0028 | 1 | 99 | 0.0101 | 420 | c.244 others(439): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 3/6 | chr7 | TogoVar | |||||||
CAMKK2_chr12_121232692_121301709 | 121255224 | A | ATATATAT others(413): Show |
intron_variant | MODIFIER | NA18964.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0299 | 1 | 315 | 0.0032 | 420 | c.907 others(435): Show |
CAMKK2 | ENSG00000110931.19 | transcript | ENST00000404169.8 | protein_coding | 9/16 | chr12 | TogoVar | |||||||
CCDC88A_chr2_55282842_55424856 | 55297381 | A | AAATATAT others(413): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0005 | 1 | 298 | 0.0034 | 420 | c.482 others(437): Show |
CCDC88A | ENSG00000115355.18 | transcript | ENST00000436346.7 | protein_coding | 29/32 | chr2 | TogoVar | |||||||
CCDC88A_chr2_55282842_55424856 | 55384523 | A | ATATATAC others(413): Show |
intron_variant | MODIFIER | HG02258.hp1 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 a0001c0001t0001g0277 |
2 | 124 | 0.0161 | 420 | c.273 others(437): Show |
CCDC88A | ENSG00000115355.18 | transcript | ENST00000436346.7 | protein_coding | 3/32 | chr2 | TogoVar | |||||||
CCDC88A_chr2_55282842_55424856 | 55384523 | A | ATATATAC others(413): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0307 | 1 | 123 | 0.0081 | 420 | c.273 others(437): Show |
CCDC88A | ENSG00000115355.18 | transcript | ENST00000436346.7 | protein_coding | 3/32 | chr2 | TogoVar |