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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C6orf132_chr6_42096119_42147620 | 42137817 | G | GGGGGCGG others(3): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0035 | a0035c0035 | a0035c0035t0011 | a0035c0035t0011g0026 | 1 | 364 | 0.0028 | 10 | c.145 others(27): Show |
C6orf132 | ENSG00000188112.10 | transcript | ENST00000341865.9 | protein_coding | 1/4 | chr6 | TogoVar | |||||||
C6orf132_chr6_42096119_42147620 | 42138850 | A | AACACACA others(3): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00609.hp2 others(43): Show |
a0001a0002a0003others(9): Show | a0001c0001a0002c0002a0003c0003others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0016others(18): Show | a0001c0001t0001g0002 a0001c0001t0001g0152 a0001c0001t0001g0155 others(41): Show |
46 | 364 | 0.1264 | 10 | c.145 others(27): Show |
C6orf132 | ENSG00000188112.10 | transcript | ENST00000341865.9 | protein_coding | 1/4 | chr6 | TogoVar | |||||||
C6orf163_chr6_87339813_87370463 | 87345916 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00423.hp1 others(48): Show |
a0001 | a0001c0001a0001c0007a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0007t0001others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0015 others(19): Show |
51 | 436 | 0.1170 | 10 | c.148 others(25): Show |
C6orf163 | ENSG00000203872.7 | transcript | ENST00000388923.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
C6orf52_chr6_10666422_10699616 | 10694260 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02970.hp2 HG03139.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0011 a0002c0002t0003g0071 a0002c0002t0003g0072 |
5 | 284 | 0.0176 | 10 | c.-12 others(25): Show |
C6orf52 | ENSG00000137434.12 | transcript | ENST00000259983.8 | protein_coding | 1/4 | chr6 | TogoVar | |||||||
C6orf62_chr6_24699861_24724154 | 24711239 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | HG01934.hp1 NA18993.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0017 | a0001c0001t0005g0062 a0001c0001t0017g0059 |
2 | 414 | 0.0048 | 10 | c.430 others(27): Show |
C6orf62 | ENSG00000112308.14 | transcript | ENST00000378119.9 | protein_coding | 3/4 | chr6 | TogoVar | |||||||
C7_chr5_40904497_40989643 | 40907393 | T | TTTTTTTT others(3): Show |
upstream_gene_variant | MODIFIER | HG02723.hp1 HG02809.hp2 HG03041.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0010a0001c0001t0022others(1): Show | a0001c0001t0005g0279 a0001c0001t0010g0278 a0001c0001t0022g0209 others(1): Show |
4 | 380 | 0.0105 | 10 | c.-22 others(21): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 2103 | chr5 | TogoVar | |||||||
C7_chr5_40904497_40989643 | 40918949 | G | GACACACA others(3): Show |
intron_variant | MODIFIER | HG01515.hp2 HG01975.hp1 HG02622.hp2 others(2): Show |
a0001a0005a0007 | a0001c0001a0005c0005a0007c0007 | a0001c0001t0003a0001c0001t0005a0001c0001t0023others(2): Show | a0001c0001t0003g0162 a0001c0001t0005g0032 a0001c0001t0023g0037 others(2): Show |
5 | 380 | 0.0132 | 10 | c.6+9 others(23): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
C7_chr5_40904497_40989643 | 40922696 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG01168.hp1 others(24): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0027a0002c0002others(5): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(13): Show | a0001c0001t0003g0272 a0001c0001t0005g0074 a0001c0001t0005g0075 others(24): Show |
27 | 380 | 0.0711 | 10 | c.7-5 others(23): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
C7_chr5_40904497_40989643 | 40945875 | C | CATATATA others(3): Show |
intron_variant | MODIFIER | NA19006.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0169 | 1 | 380 | 0.0026 | 10 | c.738 others(25): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
C7_chr5_40904497_40989643 | 40965627 | G | GATATATA others(3): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0024 | a0024c0028 | a0024c0028t0005 | a0024c0028t0005g0375 | 1 | 380 | 0.0026 | 10 | c.188 others(27): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
C7_chr5_40904497_40989643 | 40968568 | T | TTATATAT others(3): Show |
intron_variant | MODIFIER | HG03139.hp2 HG03540.hp1 HG03579.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0019 | a0001c0001t0004g0204 a0001c0001t0004g0205 a0001c0001t0004g0207 others(1): Show |
4 | 380 | 0.0105 | 10 | c.188 others(29): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
C7orf31_chr7_25129692_25185354 | 25148477 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0007 | a0007c0005 | a0007c0005t0002 | a0007c0005t0002g0164 | 1 | 416 | 0.0024 | 10 | c.684 others(27): Show |
C7orf31 | ENSG00000153790.12 | transcript | ENST00000283905.8 | protein_coding | 7/9 | chr7 | TogoVar | |||||||
C7orf31_chr7_25129692_25185354 | 25166233 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0249 | 1 | 416 | 0.0024 | 10 | c.311 others(27): Show |
C7orf31 | ENSG00000153790.12 | transcript | ENST00000283905.8 | protein_coding | 3/9 | chr7 | TogoVar | |||||||
C7orf33_chr7_148585766_148620860 | 148597730 | A | ATTTGTTT others(3): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00735.hp1 HG01070.hp1 others(19): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0004t0001 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0291 others(17): Show |
22 | 444 | 0.0496 | 10 | c.204 others(27): Show |
C7orf33 | ENSG00000170279.3 | transcript | ENST00000307003.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
C7orf33_chr7_148585766_148620860 | 148598763 | T | TATATAGA others(3): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0356 | 1 | 444 | 0.0023 | 10 | c.204 others(27): Show |
C7orf33 | ENSG00000170279.3 | transcript | ENST00000307003.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
C7orf33_chr7_148585766_148620860 | 148598763 | T | TATATATA others(3): Show |
intron_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 444 | 0.0023 | 10 | c.204 others(27): Show |
C7orf33 | ENSG00000170279.3 | transcript | ENST00000307003.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
C7orf33_chr7_148585766_148620860 | 148606933 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01106.hp2 HG01255.hp2 others(36): Show |
a0001a0003a0005 | a0001c0001a0003c0008a0005c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0006 a0001c0001t0001g0022 a0001c0001t0001g0054 others(34): Show |
39 | 444 | 0.0878 | 10 | c.205 others(27): Show |
C7orf33 | ENSG00000170279.3 | transcript | ENST00000307003.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1008844 | C | CACACACG others(3): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG00639.hp2 others(94): Show |
a0001a0004a0005others(4): Show | a0001c0001a0004c0014a0005c0007others(4): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(16): Show | a0001c0001t0003g0307 a0001c0001t0005g0204 a0001c0001t0005g0212 others(94): Show |
97 | 326 | 0.2976 | 10 | c.323 others(27): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 3/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1008844 | C | CATACACG others(3): Show |
intron_variant | MODIFIER | NA18998.hp2 NA19085.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0195 a0001c0001t0004g0196 |
2 | 326 | 0.0061 | 10 | c.323 others(27): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 3/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1008846 | C | CACACGTA others(3): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00741.hp1 HG01081.hp1 others(36): Show |
a0001a0011 | a0001c0001a0011c0011 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(4): Show | a0001c0001t0001g0029 a0001c0001t0001g0043 a0001c0001t0001g0044 others(36): Show |
39 | 326 | 0.1196 | 10 | c.323 others(27): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 3/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1008860 | C | CGTAAACA others(3): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0242 | 1 | 326 | 0.0031 | 10 | c.323 others(27): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 3/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1011140 | T | TACCCACA others(3): Show |
intron_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 326 | 0.0031 | 10 | c.130 others(25): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1016096 | G | GCAGGATA others(3): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02280.hp2 HG02717.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0012 | a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0012g0321 |
3 | 326 | 0.0092 | 10 | c.130 others(27): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1016106 | G | GCAGGATA others(3): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01243.hp1 HG01891.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(2): Show | a0001c0001t0001g0099 a0001c0001t0003g0205 a0001c0001t0003g0238 others(9): Show |
12 | 326 | 0.0368 | 10 | c.130 others(27): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1016226 | C | CCAGTACA others(3): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00558.hp2 others(112): Show |
a0001a0002a0008others(3): Show | a0001c0001a0002c0002a0008c0005others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(17): Show | a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0211 others(112): Show |
115 | 326 | 0.3528 | 10 | c.130 others(27): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1016241 | A | ACACGCCA others(3): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02622.hp2 HG02970.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0014 | a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0014g0158 others(3): Show |
6 | 326 | 0.0184 | 10 | c.130 others(27): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1016286 | G | GCAGCGCA others(3): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02451.hp2 HG02486.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007 | a0001c0001t0001g0099 a0001c0001t0003g0205 a0001c0001t0003g0238 others(4): Show |
7 | 326 | 0.0215 | 10 | c.130 others(27): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1016402 | G | GCAGCGCA others(3): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0118 | 1 | 326 | 0.0031 | 10 | c.130 others(27): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1016623 | G | GCACAGCA others(3): Show |
intron_variant | MODIFIER | HG01167.hp2 HG02451.hp2 HG02486.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0001g0099 a0001c0001t0003g0205 a0001c0001t0003g0239 others(4): Show |
7 | 326 | 0.0215 | 10 | c.130 others(27): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1016663 | G | GCACGCCA others(3): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02622.hp2 HG02970.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0014 | a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0014g0158 others(3): Show |
6 | 326 | 0.0184 | 10 | c.130 others(27): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1016673 | A | ACACAGCA others(3): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02257.hp2 others(16): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(3): Show | a0001c0001t0002g0318 a0001c0001t0003g0249 a0001c0001t0003g0250 others(16): Show |
19 | 326 | 0.0583 | 10 | c.130 others(27): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1016732 | C | CGCACGCC others(3): Show |
intron_variant | MODIFIER | HG01243.hp1 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0289 a0001c0001t0003g0290 |
2 | 326 | 0.0061 | 10 | c.130 others(27): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1016827 | G | GCACGCCA others(3): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01071.hp2 HG01074.hp2 others(42): Show |
a0001a0009a0010 | a0001c0001a0009c0010a0010c0008 | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(9): Show | a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0246 others(42): Show |
45 | 326 | 0.1380 | 10 | c.130 others(27): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1016919 | G | GCAGCGCA others(3): Show |
intron_variant | MODIFIER | NA18952.hp2 NA18973.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0256 a0001c0001t0002g0285 |
2 | 326 | 0.0061 | 10 | c.130 others(27): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1016939 | C | CCAGCGCA others(3): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0287 | 1 | 326 | 0.0031 | 10 | c.130 others(27): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1016964 | A | ACACGCCA others(3): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0256 | 1 | 326 | 0.0031 | 10 | c.130 others(27): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1016999 | G | GCAGCACA others(3): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0158 | 1 | 326 | 0.0031 | 10 | c.130 others(27): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1017000 | G | GAGCACAC others(3): Show |
intron_variant | MODIFIER | HG02717.hp2 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 a0001c0001t0001g0083 |
2 | 326 | 0.0061 | 10 | c.130 others(27): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1023624 | A | AACACACA others(3): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02027.hp2 HG02155.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0021 | a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0026 others(6): Show |
9 | 326 | 0.0276 | 10 | c.130 others(29): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1040183 | T | TAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG02572.hp1 HG06807.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007 | a0001c0001t0005g0287 a0001c0001t0005g0295 a0001c0001t0007g0150 |
3 | 326 | 0.0092 | 10 | c.130 others(29): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1133409 | A | AAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG03927.hp2 NA18944.hp2 NA18945.hp1 others(5): Show |
a0001a0011 | a0001c0001a0011c0011 | a0001c0001t0004a0011c0011t0004 | a0001c0001t0004g0190 a0001c0001t0004g0191 a0001c0001t0004g0192 others(5): Show |
8 | 326 | 0.0245 | 10 | c.-2+ others(25): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1136323 | A | AATATATA others(3): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02109.hp1 HG02145.hp1 others(22): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0002g0318 a0001c0001t0003g0289 a0001c0001t0003g0290 others(22): Show |
25 | 326 | 0.0767 | 10 | c.-2+ others(23): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1136369 | A | AATATATA others(3): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00558.hp2 others(75): Show |
a0001a0002a0007others(1): Show | a0001c0001a0002c0002a0007c0004others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(8): Show | a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0211 others(75): Show |
78 | 326 | 0.2393 | 10 | c.-2+ others(23): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
C7orf57_chr7_48030543_48066297 | 48031832 | G | GCACACAC others(3): Show |
upstream_gene_variant | MODIFIER | HG00741.hp2 HG01106.hp1 HG01515.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0002 | a0001c0001t0001g0024 a0001c0001t0001g0049 a0001c0001t0001g0058 others(10): Show |
13 | 404 | 0.0322 | 10 | c.-39 others(21): Show |
C7orf57 | ENSG00000164746.14 | transcript | ENST00000348904.4 | protein_coding | 3710 | chr7 | TogoVar | |||||||
C7orf57_chr7_48030543_48066297 | 48037749 | C | CTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00673.hp1 HG00741.hp1 others(26): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0008 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(2): Show | a0001c0001t0001g0239 a0001c0001t0002g0047 a0002c0002t0001g0027 others(22): Show |
29 | 404 | 0.0718 | 10 | c.55+ others(25): Show |
C7orf57 | ENSG00000164746.14 | transcript | ENST00000348904.4 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
C7orf57_chr7_48030543_48066297 | 48037768 | T | TGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG03654.hp2 HG03831.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0253 a0002c0002t0001g0254 |
2 | 404 | 0.0050 | 10 | c.55+ others(25): Show |
C7orf57 | ENSG00000164746.14 | transcript | ENST00000348904.4 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
C7orf57_chr7_48030543_48066297 | 48051871 | C | CCTTCCTT others(3): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0009 | a0009c0007 | a0009c0007t0002 | a0009c0007t0002g0043 | 1 | 404 | 0.0025 | 10 | c.606 others(25): Show |
C7orf57 | ENSG00000164746.14 | transcript | ENST00000348904.4 | protein_coding | 6/8 | chr7 | TogoVar | |||||||
C8A_chr1_56849797_56923223 | 56857303 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | HG01943.hp1 HG03669.hp2 |
a0003a0008 | a0003c0003a0008c0007 | a0003c0003t0002a0008c0007t0004 | a0003c0003t0002g0094 a0008c0007t0004g0052 |
2 | 366 | 0.0055 | 10 | c.77+ others(25): Show |
C8A | ENSG00000157131.12 | transcript | ENST00000361249.4 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
C8A_chr1_56849797_56923223 | 56885370 | T | TTACATAA others(3): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02818.hp1 HG02886.hp2 others(5): Show |
a0001a0003a0006others(1): Show | a0001c0001a0003c0003a0006c0006others(1): Show | a0001c0001t0001a0003c0003t0002a0006c0006t0001others(1): Show | a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0066 others(4): Show |
8 | 366 | 0.0219 | 10 | c.856 others(25): Show |
C8A | ENSG00000157131.12 | transcript | ENST00000361249.4 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
C8B_chr1_56924207_56971015 | 56928894 | T | TCACACAC others(3): Show |
downstream_gene_variant | MODIFIER | HG02683.hp2 HG02735.hp1 HG03669.hp2 |
a0001a0005 | a0001c0001a0005c0009 | a0001c0001t0001a0005c0009t0001 | a0001c0001t0001g0057 a0005c0009t0001g0290 |
3 | 402 | 0.0075 | 10 | c.*50 others(19): Show |
C8B | ENSG00000021852.14 | transcript | ENST00000371237.9 | protein_coding | 312 | chr1 | TogoVar |