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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C5orf22_chr5_31527301_31560053 | 31541105 | AGTGTGTG others(7): Show |
A | intron_variant | MODIFIER | HG02559.hp1 HG03130.hp1 HG03471.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013a0001c0001t0020 | a0001c0001t0001g0119a0001c0001t0001g0120a0001c0001t0013g0187others(1): Show | 4 | 404 | 0.0099 | -14 | c.870 others(29): Show |
C5orf22 | ENSG00000082213.18 | transcript | ENST00000325366.14 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
C5orf24_chr5_134840968_134864735 | 134849647 | CTTTTTTT others(7): Show |
C | intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 402 | 0.0025 | -14 | c.-4+ others(29): Show |
C5orf24 | ENSG00000181904.9 | transcript | ENST00000394976.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
C5orf34_chr5_43481709_43520148 | 43512760 | CTTTTTTT others(7): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG01070.hp2 HG02129.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017a0001c0001t0001g0036a0001c0001t0001g0037others(7): Show | 14 | 340 | 0.0412 | -14 | c.-37 others(31): Show |
C5orf34 | ENSG00000172244.9 | transcript | ENST00000306862.7 | protein_coding | 1/12 | chr5 | TogoVar | ||||||
C5orf52_chr5_157666533_157685158 | 157677661 | AAAAAAAA others(7): Show |
A | intron_variant | MODIFIER | HG02055.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0061 | 1 | 418 | 0.0024 | -14 | c.322 others(31): Show |
C5orf52 | ENSG00000187658.7 | transcript | ENST00000409999.4 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
C5orf52_chr5_157666533_157685158 | 157682245 | CTTTTTTT others(7): Show |
C | downstream_gene_variant | MODIFIER | HG01943.hp2 HG01981.hp2 HG02145.hp2 others(4): Show |
a0003a0004 | a0003c0003a0004c0004 | a0003c0003t0001a0003c0003t0002a0004c0004t0001 | a0003c0003t0001g0013a0003c0003t0002g0013a0003c0003t0002g0063others(1): Show | 7 | 418 | 0.0168 | -14 | c.*22 others(25): Show |
C5orf52 | ENSG00000187658.7 | transcript | ENST00000409999.4 | protein_coding | 2088 | chr5 | TogoVar | ||||||
C6_chr5_41137116_41218532 | 41177595 | ATAACTGT others(7): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02109.hp2 HG02809.hp2 others(4): Show |
a0001a0010 | a0001c0001a0010c0012 | a0001c0001t0004a0010c0012t0004 | a0001c0001t0004g0020a0001c0001t0004g0081a0001c0001t0004g0137others(3): Show | 7 | 402 | 0.0174 | -14 | c.928 others(29): Show |
C6 | ENSG00000039537.16 | transcript | ENST00000337836.10 | protein_coding | 7/17 | chr5 | TogoVar | ||||||
C6orf118_chr6_165274664_165314605 | 165295916 | CCCACCAC others(7): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG02280.hp1 HG03041.hp2 |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0021a0003c0003t0003g0049 | 3 | 360 | 0.0083 | -14 | c.106 others(33): Show |
C6orf118 | ENSG00000112539.15 | transcript | ENST00000230301.9 | protein_coding | 5/8 | chr6 | TogoVar | ||||||
C6orf118_chr6_165274664_165314605 | 165296250 | GTTTTTTT others(7): Show |
G | intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0244 | 1 | 360 | 0.0028 | -14 | c.106 others(33): Show |
C6orf118 | ENSG00000112539.15 | transcript | ENST00000230301.9 | protein_coding | 5/8 | chr6 | TogoVar | ||||||
C6orf120_chr6_169697126_169711360 | 169706727 | TACACACA others(7): Show |
T | downstream_gene_variant | MODIFIER | HG00438.hp1 HG02083.hp1 HG02451.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0001t0003g0000others(5): Show | 16 | 416 | 0.0385 | -14 | c.*36 others(25): Show |
C6orf120 | ENSG00000185127.7 | transcript | ENST00000332290.4 | protein_coding | 368 | chr6 | TogoVar | ||||||
C6orf132_chr6_42096119_42147620 | 42097606 | AGGTCGGA others(7): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00423.hp1 others(62): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0050a0002c0002others(9): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0047others(15): Show | a0001c0001t0001g0002a0001c0001t0001g0089a0001c0001t0001g0126others(61): Show | 65 | 364 | 0.1786 | -14 | c.*61 others(25): Show |
C6orf132 | ENSG00000188112.10 | transcript | ENST00000341865.9 | protein_coding | 3512 | chr6 | TogoVar | ||||||
C6orf136_chr6_30642133_30658207 | 30652201 | TTACTGGA others(7): Show |
T | intron_variant | MODIFIER | HG02896.hp1 HG02976.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0034 | 2 | 409 | 0.0049 | -14 | c.130 others(31): Show |
C6orf136 | ENSG00000204564.12 | transcript | ENST00000651131.1 | protein_coding | 4/5 | chr6 | TogoVar | ||||||
C6orf136_chr6_30642133_30658207 | 30652239 | TCACACAC others(7): Show |
T | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01168.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0015a0001c0001t0001g0042a0001c0001t0001g0080others(1): Show | 10 | 409 | 0.0245 | -14 | c.130 others(31): Show |
C6orf136 | ENSG00000204564.12 | transcript | ENST00000651131.1 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
C6orf62_chr6_24699861_24724154 | 24720501 | GAGAGAAA others(7): Show |
G | upstream_gene_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 414 | 0.0024 | -14 | c.-18 others(25): Show |
C6orf62 | ENSG00000112308.14 | transcript | ENST00000378119.9 | protein_coding | 1348 | chr6 | TogoVar | ||||||
C6orf89_chr6_36880952_36933964 | 36882720 | TTTTTTTC others(7): Show |
T | upstream_gene_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008 | 1 | 396 | 0.0025 | -14 | c.-34 others(25): Show |
C6orf89 | ENSG00000198663.17 | transcript | ENST00000480824.7 | protein_coding | 3231 | chr6 | TogoVar | ||||||
C6orf89_chr6_36880952_36933964 | 36901315 | ATTATTAT others(7): Show |
A | intron_variant | MODIFIER | HG01361.hp1 HG02055.hp1 HG02451.hp1 others(10): Show |
a0001 | a0001c0002 | a0001c0002t0013a0001c0002t0019a0001c0002t0021others(3): Show | a0001c0002t0013g0009a0001c0002t0013g0049a0001c0002t0019g0094others(7): Show | 13 | 396 | 0.0328 | -14 | c.190 others(29): Show |
C6orf89 | ENSG00000198663.17 | transcript | ENST00000480824.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
C7_chr5_40904497_40989643 | 40918949 | GACACACA others(7): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00558.hp1 others(48): Show |
a0001a0003a0007others(1): Show | a0001c0001a0001c0022a0003c0003others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0002g0003a0001c0001t0002g0326a0001c0001t0002g0328others(47): Show | 51 | 380 | 0.1342 | -14 | c.6+9 others(27): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
C7_chr5_40904497_40989643 | 40945875 | CATATATA others(7): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00597.hp2 others(29): Show |
a0001a0004a0013 | a0001c0001a0004c0004a0004c0014others(1): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0010others(9): Show | a0001c0001t0004g0204a0001c0001t0004g0205a0001c0001t0004g0206others(29): Show | 32 | 380 | 0.0842 | -14 | c.738 others(29): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
C7_chr5_40904497_40989643 | 40968568 | TTATATAT others(7): Show |
T | intron_variant | MODIFIER | HG01175.hp2 HG01346.hp2 NA18986.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0003 | a0001c0001t0003g0280a0002c0002t0003g0078a0002c0002t0003g0124 | 3 | 380 | 0.0079 | -14 | c.188 others(33): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
C7_chr5_40904497_40989643 | 40968588 | ATATATAT others(7): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG01496.hp1 HG01928.hp1 others(7): Show |
a0001a0002a0005others(2): Show | a0001c0001a0002c0002a0005c0005others(2): Show | a0001c0001t0031a0002c0002t0002a0002c0002t0003others(3): Show | a0001c0001t0031g0060a0002c0002t0002g0087a0002c0002t0003g0163others(7): Show | 10 | 380 | 0.0263 | -14 | c.188 others(33): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
C7_chr5_40904497_40989643 | 40968590 | ATATATAT others(7): Show |
A | intron_variant | MODIFIER | HG00621.hp1 HG02040.hp2 HG02071.hp1 others(20): Show |
a0001a0002a0010others(1): Show | a0001c0001a0002c0002a0010c0009others(1): Show | a0001c0001t0003a0001c0001t0019a0002c0002t0003others(3): Show | a0001c0001t0003g0007a0001c0001t0003g0211a0001c0001t0003g0219others(20): Show | 23 | 380 | 0.0605 | -14 | c.188 others(33): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
C7_chr5_40904497_40989643 | 40968592 | ATATATAT others(7): Show |
A | intron_variant | MODIFIER | NA18942.hp2 NA19002.hp2 NA19064.hp2 |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0003a0002c0002t0003a0004c0004t0003 | a0001c0001t0003g0031a0002c0002t0003g0133a0004c0004t0003g0323 | 3 | 380 | 0.0079 | -14 | c.188 others(33): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
C7_chr5_40904497_40989643 | 40968600 | ATTTTTTT others(7): Show |
A | intron_variant | MODIFIER | HG03704.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0215 | 1 | 380 | 0.0026 | -14 | c.188 others(33): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
C7orf33_chr7_148585766_148620860 | 148598725 | GATATATA others(7): Show |
G | intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 444 | 0.0023 | -14 | c.204 others(31): Show |
C7orf33 | ENSG00000170279.3 | transcript | ENST00000307003.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
C7orf33_chr7_148585766_148620860 | 148598751 | TATATATA others(7): Show |
T | intron_variant | MODIFIER | HG02129.hp1 NA19079.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0412a0001c0001t0002g0413 | 2 | 444 | 0.0045 | -14 | c.204 others(31): Show |
C7orf33 | ENSG00000170279.3 | transcript | ENST00000307003.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
C7orf33_chr7_148585766_148620860 | 148598753 | TATATATA others(7): Show |
T | intron_variant | MODIFIER | HG00741.hp1 HG01978.hp2 HG02257.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0109a0001c0001t0002g0042a0001c0001t0002g0318 | 3 | 444 | 0.0068 | -14 | c.204 others(31): Show |
C7orf33 | ENSG00000170279.3 | transcript | ENST00000307003.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
C7orf33_chr7_148585766_148620860 | 148598755 | TATATATA others(7): Show |
T | intron_variant | MODIFIER | HG02015.hp1 HG02132.hp2 HG02257.hp2 others(4): Show |
a0001a0003 | a0001c0001a0003c0003a0003c0008 | a0001c0001t0001a0001c0001t0002a0003c0003t0001others(1): Show | a0001c0001t0001g0012a0001c0001t0002g0043a0001c0001t0002g0158others(3): Show | 7 | 444 | 0.0158 | -14 | c.204 others(31): Show |
C7orf33 | ENSG00000170279.3 | transcript | ENST00000307003.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
C7orf33_chr7_148585766_148620860 | 148598757 | TATATATA others(7): Show |
T | intron_variant | MODIFIER | HG00609.hp1 HG01516.hp1 HG02698.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0079a0001c0001t0001g0165a0001c0001t0002g0189others(1): Show | 4 | 444 | 0.0090 | -14 | c.204 others(31): Show |
C7orf33 | ENSG00000170279.3 | transcript | ENST00000307003.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
C7orf33_chr7_148585766_148620860 | 148598759 | TATATAGA others(7): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG01074.hp1 HG01123.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0419a0001c0001t0002g0063a0001c0001t0002g0195others(1): Show | 4 | 444 | 0.0090 | -14 | c.204 others(31): Show |
C7orf33 | ENSG00000170279.3 | transcript | ENST00000307003.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
C7orf33_chr7_148585766_148620860 | 148598761 | TATAGAGA others(7): Show |
T | intron_variant | MODIFIER | HG01928.hp1 HG02602.hp1 HG02886.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0049a0001c0001t0002g0201a0001c0001t0003g0202others(2): Show | 5 | 444 | 0.0113 | -14 | c.204 others(31): Show |
C7orf33 | ENSG00000170279.3 | transcript | ENST00000307003.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
C7orf33_chr7_148585766_148620860 | 148598763 | TAGAGAGA others(7): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG01070.hp2 HG01891.hp1 others(6): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0004a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0224a0001c0001t0001g0298a0001c0001t0001g0322others(6): Show | 9 | 444 | 0.0203 | -14 | c.204 others(31): Show |
C7orf33 | ENSG00000170279.3 | transcript | ENST00000307003.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
C7orf50_chr7_992006_1143247 | 1001820 | TGTGGAGC others(7): Show |
T | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0293 | 1 | 326 | 0.0031 | -14 | c.324 others(31): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 3/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1023624 | AACACACA others(7): Show |
A | intron_variant | MODIFIER | HG00733.hp1 HG01069.hp1 HG01071.hp1 others(9): Show |
a0001a0009 | a0001c0001a0009c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0001g0032a0001c0001t0003g0232a0001c0001t0003g0289others(9): Show | 12 | 326 | 0.0368 | -14 | c.130 others(33): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1069375 | TCTCCCCT others(7): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG00733.hp2 HG00738.hp1 others(15): Show |
a0001a0008 | a0001c0001a0008c0009 | a0001c0001t0005a0001c0001t0006a0001c0001t0017others(1): Show | a0001c0001t0005g0297a0001c0001t0006g0081a0001c0001t0006g0085others(15): Show | 18 | 326 | 0.0552 | -14 | c.129 others(33): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
C8A_chr1_56849797_56923223 | 56885312 | ATAAATAT others(7): Show |
A | intron_variant | MODIFIER | HG02735.hp2 HG03669.hp2 HG04228.hp1 others(1): Show |
a0007a0019 | a0007c0007a0019c0015 | a0007c0007t0004a0019c0015t0007 | a0007c0007t0004g0052a0007c0007t0004g0054a0007c0007t0004g0056others(1): Show | 4 | 366 | 0.0109 | -14 | c.856 others(29): Show |
C8A | ENSG00000157131.12 | transcript | ENST00000361249.4 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
C8orf33_chr8_145047467_145061030 | 145052926 | GGAATCCA others(7): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02258.hp1 others(22): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0001a0001c0001t0003a0001c0002t0003others(1): Show | a0001c0001t0001g0002a0001c0001t0003g0002a0001c0001t0003g0004others(2): Show | 25 | 406 | 0.0616 | -14 | c.318 others(27): Show |
C8orf33 | ENSG00000182307.14 | transcript | ENST00000331434.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
C8orf34_chr8_68325955_68824023 | 68331068 | TCCGGCTC others(7): Show |
T | frameshift_variant | HIGH | HG02109.hp1 HG02717.hp2 HG03453.hp1 others(1): Show |
a0003 | a0003c0006a0003c0008 | a0003c0006t0001a0003c0006t0004a0003c0008t0001 | a0003c0006t0001g0122a0003c0006t0001g0125a0003c0006t0004g0124others(1): Show | 4 | 128 | 0.0313 | -14 | c.59_ others(19): Show |
p.Arg others(4): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 1/14 | 117/2452 | 59/1617 | 20/538 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |
C8orf34_chr8_68325955_68824023 | 68367912 | GAAAAAAA others(7): Show |
G | intron_variant | MODIFIER | HG02717.hp2 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0122 | 1 | 128 | 0.0078 | -14 | c.327 others(33): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
C8orf34_chr8_68325955_68824023 | 68395357 | TCTCTCAC others(7): Show |
T | intron_variant | MODIFIER | HG00558.hp2 HG00735.hp1 HG01071.hp1 others(41): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0014others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0005a0001c0001t0001g0011a0001c0001t0001g0012others(41): Show | 44 | 128 | 0.3438 | -14 | c.328 others(33): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
C8orf34_chr8_68325955_68824023 | 68555642 | ACAGTTTT others(7): Show |
A | intron_variant | MODIFIER | HG02622.hp2 HG02647.hp1 HG03098.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0003a0002c0003t0001 | a0001c0001t0001g0120a0001c0001t0003g0112a0002c0003t0001g0086 | 3 | 128 | 0.0234 | -14 | c.110 others(35): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
C8orf34_chr8_68325955_68824023 | 68588321 | AATAGTAT others(7): Show |
A | intron_variant | MODIFIER | HG03195.hp2 | a0004 | a0004c0018 | a0004c0018t0007 | a0004c0018t0007g0126 | 1 | 128 | 0.0078 | -14 | c.110 others(35): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
C8orf34_chr8_68325955_68824023 | 68589506 | CGAGAGAG others(7): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG00735.hp1 HG01071.hp1 others(72): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0005others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(72): Show | 75 | 128 | 0.5859 | -14 | c.110 others(35): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
C8orf34_chr8_68325955_68824023 | 68779180 | AACACACA others(7): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG01891.hp1 HG02622.hp1 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(5): Show | a0001c0001t0001g0097a0001c0002t0001g0060a0002c0003t0001g0036others(6): Show | 9 | 128 | 0.0703 | -14 | c.145 others(33): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
C8orf74_chr8_10667628_10705590 | 10672383 | AGAGTGTG others(7): Show |
A | upstream_gene_variant | MODIFIER | HG02040.hp2 HG02559.hp1 |
a0001a0015 | a0001c0001a0015c0012 | a0001c0001t0001a0015c0012t0002 | a0001c0001t0001g0062a0015c0012t0002g0334 | 2 | 430 | 0.0047 | -14 | c.-28 others(23): Show |
C8orf74 | ENSG00000171060.11 | transcript | ENST00000304519.10 | protein_coding | 244 | chr8 | TogoVar | ||||||
C8orf74_chr8_10667628_10705590 | 10698901 | CCACACAC others(7): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00544.hp1 others(82): Show |
a0001a0016 | a0001c0001a0001c0021a0016c0024 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0006a0001c0001t0001g0013a0001c0001t0001g0014others(70): Show | 85 | 430 | 0.1977 | -14 | c.648 others(29): Show |
C8orf74 | ENSG00000171060.11 | transcript | ENST00000304519.10 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
C8orf88_chr8_90953471_90990238 | 90956943 | CGTGTGTG others(7): Show |
C | downstream_gene_variant | MODIFIER | HG00738.hp2 HG01099.hp2 HG01515.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 4 | 368 | 0.0109 | -14 | c.*20 others(25): Show |
C8orf88 | ENSG00000253250.3 | transcript | ENST00000517562.3 | protein_coding | 1527 | chr8 | TogoVar | ||||||
C8orf88_chr8_90953471_90990238 | 90968657 | CATATATA others(7): Show |
C | intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 368 | 0.0027 | -14 | c.223 others(31): Show |
C8orf88 | ENSG00000253250.3 | transcript | ENST00000517562.3 | protein_coding | 4/5 | chr8 | TogoVar | ||||||
C8orf88_chr8_90953471_90990238 | 90985244 | CGGCGGGG others(7): Show |
C | upstream_gene_variant | MODIFIER | HG01167.hp2 HG01243.hp2 HG02723.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0015a0001c0001t0001g0023a0001c0001t0001g0031others(6): Show | 15 | 368 | 0.0408 | -14 | c.-17 others(23): Show |
C8orf88 | ENSG00000253250.3 | transcript | ENST00000517562.3 | protein_coding | 7 | chr8 | TogoVar | ||||||
C8orf90_chr8_141509671_141523729 | 141521876 | CTTTTTTT others(7): Show |
C | downstream_gene_variant | MODIFIER | HG01496.hp2 HG04204.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 450 | 0.0044 | -14 | c.*31 others(25): Show |
C8orf90 | ENSG00000226490.2 | transcript | ENST00000643770.2 | protein_coding | 3148 | chr8 | TogoVar | ||||||
C9_chr5_39279140_39369495 | 39282105 | CTTTTCTT others(7): Show |
C | downstream_gene_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0224 | 1 | 394 | 0.0025 | -14 | c.*30 others(25): Show |
C9 | ENSG00000113600.12 | transcript | ENST00000263408.5 | protein_coding | 2034 | chr5 | TogoVar | ||||||
C9orf153_chr9_86215265_86264657 | 86241623 | ATTTCGTT others(7): Show |
A | intron_variant | MODIFIER | HG02896.hp2 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0173 | 1 | 384 | 0.0026 | -14 | c.-26 others(33): Show |
C9orf153 | ENSG00000187753.13 | transcript | ENST00000339137.7 | protein_coding | 1/3 | chr9 | TogoVar |