regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C5orf24_chr5_134840968_134864735 | 134850994 | A | ATATTTAT others(1): Show |
intron_variant | MODIFIER | HG02056.hp2 HG02132.hp1 HG03579.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0011a0001c0001t0001g0059a0001c0001t0001g0091others(2): Show | 8 | 402 | 0.0199 | 8 | c.-3- others(23): Show |
C5orf24 | ENSG00000181904.9 | transcript | ENST00000394976.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
C5orf24_chr5_134840968_134864735 | 134856640 | C | CAAATAAA others(1): Show |
3_prime_UTR_variant | MODIFIER | HG02071.hp2 HG02717.hp2 HG02965.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0031 | a0001c0001t0007g0001a0001c0001t0007g0048a0001c0001t0007g0127others(3): Show | 6 | 402 | 0.0149 | 8 | c.*12 others(19): Show |
C5orf24 | ENSG00000181904.9 | transcript | ENST00000394976.4 | protein_coding | 2/2 | 1217 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||
C5orf34_chr5_43481709_43520148 | 43519819 | T | TTGTGTGT others(1): Show |
upstream_gene_variant | MODIFIER | HG01167.hp2 HG01943.hp1 HG02572.hp2 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(3): Show | a0001c0001t0001g0016a0001c0001t0001g0186a0001c0001t0001g0190others(11): Show | 15 | 340 | 0.0441 | 8 | c.-50 others(19): Show |
C5orf34 | ENSG00000172244.9 | transcript | ENST00000306862.7 | protein_coding | 4672 | chr5 | TogoVar | ||||||
C5orf46_chr5_147887722_147911538 | 147911208 | G | GTCTTCTA others(1): Show |
upstream_gene_variant | MODIFIER | HG02818.hp1 HG02895.hp2 HG03195.hp1 |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0002 | a0002c0003t0001g0014a0002c0003t0002g0012 | 3 | 452 | 0.0066 | 8 | c.-47 others(19): Show |
C5orf46 | ENSG00000178776.5 | transcript | ENST00000318315.5 | protein_coding | 4671 | chr5 | TogoVar | ||||||
C5orf52_chr5_157666533_157685158 | 157669486 | T | TTTTATTT others(1): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 HG01255.hp2 HG01496.hp1 others(22): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0035a0001c0001t0001g0039others(9): Show | 25 | 418 | 0.0598 | 8 | c.-21 others(19): Show |
C5orf52 | ENSG00000187658.7 | transcript | ENST00000409999.4 | protein_coding | 2046 | chr5 | TogoVar | ||||||
C5orf52_chr5_157666533_157685158 | 157669486 | T | TTTTTTTT others(1): Show |
upstream_gene_variant | MODIFIER | HG02109.hp2 HG02280.hp2 HG02622.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0015a0002c0002t0001g0053 | 5 | 418 | 0.0120 | 8 | c.-21 others(19): Show |
C5orf52 | ENSG00000187658.7 | transcript | ENST00000409999.4 | protein_coding | 2046 | chr5 | TogoVar | ||||||
C5orf58_chr5_170227985_170251231 | 170249362 | G | GTATATAT others(1): Show |
downstream_gene_variant | MODIFIER | HG02965.hp2 NA18612.hp2 NA18960.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015a0001c0001t0001g0037a0001c0001t0001g0038others(2): Show | 11 | 426 | 0.0258 | 8 | c.*32 others(19): Show |
C5orf58 | ENSG00000234511.11 | transcript | ENST00000593851.5 | protein_coding | 3132 | chr5 | TogoVar | ||||||
C5orf63_chr5_127046304_127078502 | 127048246 | G | GACACACA others(1): Show |
downstream_gene_variant | MODIFIER | HG02818.hp2 HG03486.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0014a0001c0001t0003g0007a0001c0001t0003g0070 | 3 | 350 | 0.0086 | 8 | c.*35 others(19): Show |
C5orf63 | ENSG00000164241.14 | transcript | ENST00000296662.10 | protein_coding | 3057 | chr5 | TogoVar | ||||||
C6_chr5_41137116_41218532 | 41187699 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01496.hp2 HG01515.hp1 HG01517.hp1 others(19): Show |
a0002a0004 | a0002c0002a0002c0014a0004c0008 | a0002c0002t0001a0002c0002t0003a0002c0002t0008others(4): Show | a0002c0002t0001g0162a0002c0002t0001g0163a0002c0002t0001g0170others(15): Show | 22 | 402 | 0.0547 | 8 | c.588 others(25): Show |
C6 | ENSG00000039537.16 | transcript | ENST00000337836.10 | protein_coding | 5/17 | chr5 | TogoVar | ||||||
C6_chr5_41137116_41218532 | 41202809 | A | AAAGCTTG others(1): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02055.hp2 HG02145.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032a0001c0001t0001g0252a0001c0001t0001g0253others(6): Show | 10 | 402 | 0.0249 | 8 | c.143 others(23): Show |
C6 | ENSG00000039537.16 | transcript | ENST00000337836.10 | protein_coding | 2/17 | chr5 | TogoVar | ||||||
C6orf118_chr6_165274664_165314605 | 165276424 | G | GACACACA others(1): Show |
downstream_gene_variant | MODIFIER | HG02970.hp2 HG02976.hp1 HG03453.hp1 others(1): Show |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0028a0002c0004t0001g0102a0002c0004t0001g0115 | 4 | 360 | 0.0111 | 8 | c.*36 others(19): Show |
C6orf118 | ENSG00000112539.15 | transcript | ENST00000230301.9 | protein_coding | 3239 | chr6 | TogoVar | ||||||
C6orf132_chr6_42096119_42147620 | 42109430 | C | CAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01074.hp2 HG01106.hp1 others(23): Show |
a0001a0003a0011others(1): Show | a0001c0050a0003c0004a0003c0009others(2): Show | a0001c0050t0002a0003c0004t0004a0003c0004t0011others(10): Show | a0001c0050t0002g0270a0003c0004t0004g0085a0003c0004t0004g0096others(22): Show | 26 | 364 | 0.0714 | 8 | c.328 others(23): Show |
C6orf132 | ENSG00000188112.10 | transcript | ENST00000341865.9 | protein_coding | 3/4 | chr6 | TogoVar | ||||||
C6orf132_chr6_42096119_42147620 | 42132856 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00639.hp1 others(27): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0016others(10): Show | a0001c0001t0001g0106a0001c0001t0001g0209a0001c0001t0001g0259others(25): Show | 30 | 364 | 0.0824 | 8 | c.146 others(25): Show |
C6orf132 | ENSG00000188112.10 | transcript | ENST00000341865.9 | protein_coding | 1/4 | chr6 | TogoVar | ||||||
C6orf132_chr6_42096119_42147620 | 42138850 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00733.hp1 HG02630.hp1 HG03130.hp1 others(6): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0002c0002t0002a0002c0002t0028others(5): Show | a0001c0001t0001g0172a0001c0001t0001g0284a0002c0002t0002g0229others(6): Show | 9 | 364 | 0.0247 | 8 | c.145 others(25): Show |
C6orf132 | ENSG00000188112.10 | transcript | ENST00000341865.9 | protein_coding | 1/4 | chr6 | TogoVar | ||||||
C6orf163_chr6_87339813_87370463 | 87345916 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01884.hp2 HG02040.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0032a0001c0001t0001g0092a0001c0001t0001g0102others(2): Show | 7 | 436 | 0.0161 | 8 | c.148 others(23): Show |
C6orf163 | ENSG00000203872.7 | transcript | ENST00000388923.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
C6orf58_chr6_127572174_127596820 | 127592690 | A | AAAACAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00609.hp1 HG01099.hp1 others(49): Show |
a0001a0003 | a0001c0001a0001c0007a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0007t0001others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0007others(24): Show | 52 | 454 | 0.1145 | 8 | c.*10 others(19): Show |
C6orf58 | ENSG00000184530.9 | transcript | ENST00000329722.8 | protein_coding | 871 | chr6 | TogoVar | ||||||
C6orf62_chr6_24699861_24724154 | 24711239 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01981.hp2 HG02145.hp1 HG02148.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0018a0001c0001t0005g0058a0001c0001t0005g0061others(3): Show | 8 | 414 | 0.0193 | 8 | c.430 others(25): Show |
C6orf62 | ENSG00000112308.14 | transcript | ENST00000378119.9 | protein_coding | 3/4 | chr6 | TogoVar | ||||||
C6orf89_chr6_36880952_36933964 | 36889582 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01109.hp2 HG01168.hp1 others(24): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0003a0001c0002t0005a0001c0002t0016others(7): Show | a0001c0002t0003g0062a0001c0002t0003g0063a0001c0002t0003g0179others(21): Show | 27 | 396 | 0.0682 | 8 | c.-12 others(27): Show |
C6orf89 | ENSG00000198663.17 | transcript | ENST00000480824.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
C6orf89_chr6_36880952_36933964 | 36901323 | T | TATTATTA others(1): Show |
intron_variant | MODIFIER | HG03130.hp2 HG03540.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0025 | a0001c0001t0015g0182a0001c0001t0015g0186a0001c0001t0025g0181 | 3 | 396 | 0.0076 | 8 | c.190 others(23): Show |
C6orf89 | ENSG00000198663.17 | transcript | ENST00000480824.7 | protein_coding | 3/8 | chr6 | TogoVar | ||||||
C6orf89_chr6_36880952_36933964 | 36917712 | T | TGCCTCAG others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(119): Show |
a0001a0003a0004 | a0001c0002a0001c0003a0003c0008others(1): Show | a0001c0002t0003a0001c0002t0005a0001c0002t0009others(21): Show | a0001c0002t0003g0001a0001c0002t0003g0007a0001c0002t0003g0010others(85): Show | 122 | 396 | 0.3081 | 8 | c.825 others(25): Show |
C6orf89 | ENSG00000198663.17 | transcript | ENST00000480824.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
C7_chr5_40904497_40989643 | 40918949 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01496.hp2 HG01981.hp2 others(10): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0005others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0019others(6): Show | a0001c0001t0002g0217a0001c0001t0002g0254a0001c0001t0005g0039others(10): Show | 13 | 380 | 0.0342 | 8 | c.6+9 others(21): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
C7_chr5_40904497_40989643 | 40952478 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00741.hp2 HG01346.hp2 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0032a0002c0002t0003a0003c0003t0001others(2): Show | a0001c0001t0032g0004a0002c0002t0003g0077a0002c0002t0003g0078others(3): Show | 6 | 380 | 0.0158 | 8 | c.109 others(27): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
C7orf31_chr7_25129692_25185354 | 25148477 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00597.hp2 others(97): Show |
a0001a0002a0007others(4): Show | a0001c0001a0002c0002a0007c0005others(4): Show | a0001c0001t0001a0001c0001t0015a0002c0002t0001others(5): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0009others(70): Show | 100 | 416 | 0.2404 | 8 | c.684 others(25): Show |
C7orf31 | ENSG00000153790.12 | transcript | ENST00000283905.8 | protein_coding | 7/9 | chr7 | TogoVar | ||||||
C7orf31_chr7_25129692_25185354 | 25166233 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp2 others(192): Show |
a0001a0002a0003others(11): Show | a0001c0001a0002c0002a0002c0025others(12): Show | a0001c0001t0001a0001c0001t0017a0002c0002t0001others(19): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0009others(137): Show | 195 | 416 | 0.4688 | 8 | c.311 others(25): Show |
C7orf31 | ENSG00000153790.12 | transcript | ENST00000283905.8 | protein_coding | 3/9 | chr7 | TogoVar | ||||||
C7orf31_chr7_25129692_25185354 | 25179042 | A | AAAACAAA others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01070.hp2 HG01071.hp1 others(87): Show |
a0002a0005a0006others(5): Show | a0002c0002a0005c0006a0005c0010others(6): Show | a0002c0002t0001a0002c0002t0010a0002c0002t0012others(11): Show | a0002c0002t0001g0007a0002c0002t0001g0010a0002c0002t0001g0016others(68): Show | 90 | 416 | 0.2164 | 8 | c.134 others(23): Show |
C7orf31 | ENSG00000153790.12 | transcript | ENST00000283905.8 | protein_coding | 2/9 | chr7 | TogoVar | ||||||
C7orf33_chr7_148585766_148620860 | 148606933 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00673.hp2 HG00733.hp1 others(23): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0038a0001c0001t0001g0109a0001c0001t0001g0170others(23): Show | 26 | 444 | 0.0586 | 8 | c.205 others(25): Show |
C7orf33 | ENSG00000170279.3 | transcript | ENST00000307003.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
C7orf50_chr7_992006_1143247 | 1008895 | C | CACACATG others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01109.hp2 HG01891.hp2 others(4): Show |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0005a0001c0001t0008a0001c0001t0016others(2): Show | a0001c0001t0005g0297a0001c0001t0005g0308a0001c0001t0008g0116others(4): Show | 7 | 326 | 0.0215 | 8 | c.323 others(25): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 3/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1008903 | T | TACACACG others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(224): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0029a0001c0001t0001g0043a0001c0001t0001g0044others(224): Show | 227 | 326 | 0.6963 | 8 | c.323 others(25): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 3/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1016090 | C | CACACGCC others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00558.hp2 others(101): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(15): Show | a0001c0001t0002g0208a0001c0001t0002g0209a0001c0001t0002g0211others(101): Show | 104 | 326 | 0.3190 | 8 | c.130 others(25): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1016171 | A | ACAGCAGC others(1): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02976.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0204a0001c0001t0005g0273a0001c0001t0005g0314 | 3 | 326 | 0.0092 | 8 | c.130 others(25): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1016426 | C | CGCACAGC others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01109.hp2 HG02630.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0008a0001c0001t0016others(1): Show | a0001c0001t0005g0297a0001c0001t0005g0308a0001c0001t0008g0116others(2): Show | 5 | 326 | 0.0153 | 8 | c.130 others(25): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1023624 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00741.hp2 HG02809.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0042a0001c0001t0001g0061others(6): Show | 9 | 326 | 0.0276 | 8 | c.130 others(27): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1070815 | C | CCACATGT others(1): Show |
intron_variant | MODIFIER | HG01934.hp1 HG02083.hp1 HG02132.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0021others(1): Show | a0001c0001t0001g0029a0001c0001t0004g0176a0001c0001t0004g0177others(24): Show | 27 | 326 | 0.0828 | 8 | c.129 others(27): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1070825 | A | ACACGTGC others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00558.hp2 others(182): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0004others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(25): Show | a0001c0001t0002g0208a0001c0001t0002g0209a0001c0001t0002g0211others(182): Show | 185 | 326 | 0.5675 | 8 | c.129 others(27): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1070825 | A | ACATGTGC others(1): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02280.hp2 HG03130.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0019 | a0001c0001t0003g0249a0001c0001t0003g0250a0001c0001t0019g0324others(1): Show | 4 | 326 | 0.0123 | 8 | c.129 others(27): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
C7orf57_chr7_48030543_48066297 | 48031832 | G | GCACACAC others(1): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 HG01261.hp1 HG01358.hp1 others(17): Show |
a0001a0002a0003 | a0001c0002a0002c0001a0003c0003 | a0001c0002t0001a0002c0001t0001a0002c0001t0002others(2): Show | a0001c0002t0001g0039a0001c0002t0001g0228a0001c0002t0001g0232others(17): Show | 20 | 404 | 0.0495 | 8 | c.-39 others(19): Show |
C7orf57 | ENSG00000164746.14 | transcript | ENST00000348904.4 | protein_coding | 3710 | chr7 | TogoVar | ||||||
C7orf57_chr7_48030543_48066297 | 48037749 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01884.hp2 HG02055.hp2 others(28): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0002c0001others(1): Show | a0001c0002t0001a0001c0004t0001a0002c0001t0001others(2): Show | a0001c0002t0001g0023a0001c0002t0001g0024a0001c0002t0001g0049others(24): Show | 31 | 404 | 0.0767 | 8 | c.55+ others(23): Show |
C7orf57 | ENSG00000164746.14 | transcript | ENST00000348904.4 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
C7orf57_chr7_48030543_48066297 | 48038381 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(88): Show |
a0001a0002a0005others(1): Show | a0001c0002a0002c0001a0005c0008others(1): Show | a0001c0002t0001a0002c0001t0001a0002c0001t0002others(5): Show | a0001c0002t0001g0058a0002c0001t0001g0056a0002c0001t0001g0057others(85): Show | 91 | 404 | 0.2253 | 8 | c.55+ others(23): Show |
C7orf57 | ENSG00000164746.14 | transcript | ENST00000348904.4 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
C7orf57_chr7_48030543_48066297 | 48038383 | T | TATAGATA others(1): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 HG02451.hp2 others(10): Show |
a0001a0003 | a0001c0002a0003c0003 | a0001c0002t0001a0003c0003t0001 | a0001c0002t0001g0022a0001c0002t0001g0206a0001c0002t0001g0207others(8): Show | 13 | 404 | 0.0322 | 8 | c.55+ others(23): Show |
C7orf57 | ENSG00000164746.14 | transcript | ENST00000348904.4 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
C7orf57_chr7_48030543_48066297 | 48038383 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00673.hp1 others(35): Show |
a0002 | a0002c0001 | a0002c0001t0001a0002c0001t0002a0002c0001t0011 | a0002c0001t0001g0025a0002c0001t0001g0026a0002c0001t0001g0027others(29): Show | 38 | 404 | 0.0941 | 8 | c.55+ others(23): Show |
C7orf57 | ENSG00000164746.14 | transcript | ENST00000348904.4 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
C7orf57_chr7_48030543_48066297 | 48051750 | T | TTTTCTTT others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01952.hp1 HG02559.hp2 others(6): Show |
a0002a0003 | a0002c0001a0003c0003 | a0002c0001t0001a0003c0003t0001 | a0002c0001t0001g0025a0002c0001t0001g0336a0003c0003t0001g0066others(5): Show | 9 | 404 | 0.0223 | 8 | c.606 others(23): Show |
C7orf57 | ENSG00000164746.14 | transcript | ENST00000348904.4 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
C7orf57_chr7_48030543_48066297 | 48051795 | T | TTTCCTTC others(1): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01106.hp1 HG01358.hp1 others(6): Show |
a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0240a0002c0001t0002g0295a0002c0001t0002g0305others(6): Show | 9 | 404 | 0.0223 | 8 | c.606 others(23): Show |
C7orf57 | ENSG00000164746.14 | transcript | ENST00000348904.4 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
C7orf57_chr7_48030543_48066297 | 48051817 | C | CTCTTTCT others(1): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02074.hp2 HG02572.hp2 others(5): Show |
a0001a0003 | a0001c0002a0003c0003 | a0001c0002t0001a0003c0003t0001 | a0001c0002t0001g0035a0001c0002t0001g0119a0001c0002t0001g0131others(5): Show | 8 | 404 | 0.0198 | 8 | c.606 others(23): Show |
C7orf57 | ENSG00000164746.14 | transcript | ENST00000348904.4 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
C7orf57_chr7_48030543_48066297 | 48062480 | C | CATAAATA others(1): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG00597.hp2 HG00621.hp2 others(82): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0004a0002c0001others(2): Show | a0001c0002t0001a0001c0002t0003a0001c0004t0001others(4): Show | a0001c0002t0001g0002a0001c0002t0001g0005a0001c0002t0001g0007others(73): Show | 85 | 404 | 0.2104 | 8 | c.*22 others(19): Show |
C7orf57 | ENSG00000164746.14 | transcript | ENST00000348904.4 | protein_coding | 1184 | chr7 | TogoVar | ||||||
C8A_chr1_56849797_56923223 | 56857303 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01243.hp1 HG01515.hp1 others(4): Show |
a0001a0007a0019 | a0001c0001a0007c0007a0019c0015 | a0001c0001t0001a0007c0007t0004a0019c0015t0007 | a0001c0001t0001g0018a0001c0001t0001g0095a0007c0007t0004g0054others(3): Show | 7 | 366 | 0.0191 | 8 | c.77+ others(23): Show |
C8A | ENSG00000157131.12 | transcript | ENST00000361249.4 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
C8B_chr1_56924207_56971015 | 56941509 | C | CATAGATA others(1): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00639.hp1 HG01123.hp1 others(8): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0003c0003t0002 | a0001c0001t0001g0149a0001c0001t0001g0221a0001c0001t0001g0254others(6): Show | 11 | 402 | 0.0274 | 8 | c.123 others(25): Show |
C8B | ENSG00000021852.14 | transcript | ENST00000371237.9 | protein_coding | 8/11 | chr1 | TogoVar | ||||||
C8B_chr1_56924207_56971015 | 56965396 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0019a0001c0001t0002g0090 | 3 | 402 | 0.0075 | 8 | c.92+ others(21): Show |
C8B | ENSG00000021852.14 | transcript | ENST00000371237.9 | protein_coding | 1/11 | chr1 | TogoVar | ||||||
C8B_chr1_56924207_56971015 | 56965398 | A | AGAGAGTG others(1): Show |
intron_variant | MODIFIER | HG01346.hp1 HG01978.hp1 NA18963.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038a0001c0001t0001g0039 | 4 | 402 | 0.0100 | 8 | c.92+ others(21): Show |
C8B | ENSG00000021852.14 | transcript | ENST00000371237.9 | protein_coding | 1/11 | chr1 | TogoVar | ||||||
C8B_chr1_56924207_56971015 | 56965398 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(77): Show |
a0001a0005 | a0001c0001a0001c0005a0005c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0007a0001c0001t0001g0010a0001c0001t0001g0024others(59): Show | 80 | 402 | 0.1990 | 8 | c.92+ others(21): Show |
C8B | ENSG00000021852.14 | transcript | ENST00000371237.9 | protein_coding | 1/11 | chr1 | TogoVar | ||||||
C8orf34_chr8_68325955_68824023 | 68331767 | T | TTTCTTTC others(1): Show |
intron_variant | MODIFIER | HG02258.hp1 NA19009.hp2 NA19062.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0024a0001c0001t0002g0022a0001c0001t0003g0023 | 3 | 128 | 0.0234 | 8 | c.327 others(23): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |