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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C6orf89_chr6_36880952_36933964 | 36901321 | A | ATTT | intron_variant | MODIFIER | HG01433.hp2 HG01515.hp1 HG01517.hp2 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0017others(2): Show | a0001c0001t0001g0037a0001c0001t0001g0116a0001c0001t0002g0244others(3): Show | 7 | 396 | 0.0177 | 3 | c.190 others(18): Show |
C6orf89 | ENSG00000198663.17 | transcript | ENST00000480824.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
C6orf89_chr6_36880952_36933964 | 36909181 | G | GTTT | intron_variant | MODIFIER | HG01192.hp1 HG01361.hp1 HG02572.hp2 others(10): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0013a0001c0002t0019a0001c0002t0021others(2): Show | a0001c0002t0013g0009a0001c0002t0013g0049a0001c0002t0019g0094others(6): Show | 13 | 396 | 0.0328 | 3 | c.404 others(20): Show |
C6orf89 | ENSG00000198663.17 | transcript | ENST00000480824.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
C6orf89_chr6_36880952_36933964 | 36918545 | A | AGAT | intron_variant | MODIFIER | HG02615.hp1 HG02622.hp2 HG02809.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0016a0001c0002t0029 | a0001c0002t0016g0047a0001c0002t0016g0264a0001c0002t0016g0265others(1): Show | 5 | 396 | 0.0126 | 3 | c.826 others(20): Show |
C6orf89 | ENSG00000198663.17 | transcript | ENST00000480824.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
C7_chr5_40904497_40989643 | 40909974 | A | ATTT | intron_variant | MODIFIER | HG01192.hp1 HG02630.hp2 HG02647.hp1 others(9): Show |
a0001a0005 | a0001c0001a0001c0025a0005c0005 | a0001c0001t0006a0001c0001t0008a0001c0001t0020others(4): Show | a0001c0001t0006g0287a0001c0001t0008g0286a0001c0001t0008g0288others(9): Show | 12 | 380 | 0.0316 | 3 | c.6+3 others(14): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
C7_chr5_40904497_40989643 | 40917134 | C | CAAA | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00544.hp2 others(85): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0022a0002c0002others(9): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(26): Show | a0001c0001t0002g0003a0001c0001t0002g0326a0001c0001t0002g0328others(84): Show | 88 | 380 | 0.2316 | 3 | c.6+7 others(16): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
C7_chr5_40904497_40989643 | 40922374 | C | CAAA | intron_variant | MODIFIER | HG02056.hp1 HG02080.hp2 HG02145.hp2 others(6): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0022others(5): Show | a0001c0001t0002g0326a0001c0001t0003g0325a0001c0001t0022g0209others(6): Show | 9 | 380 | 0.0237 | 3 | c.7-6 others(16): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
C7_chr5_40904497_40989643 | 40923930 | A | AGTT | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00544.hp2 others(111): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0022a0001c0025others(11): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(38): Show | a0001c0001t0002g0003a0001c0001t0002g0326a0001c0001t0002g0328others(110): Show | 114 | 380 | 0.3000 | 3 | c.7-4 others(16): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 1/17 | chr5 | TogoVar | ||||||
C7_chr5_40904497_40989643 | 40924652 | A | ATCC | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00544.hp2 others(111): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0022a0001c0025others(11): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(38): Show | a0001c0001t0002g0003a0001c0001t0002g0326a0001c0001t0002g0328others(110): Show | 114 | 380 | 0.3000 | 3 | c.7-3 others(16): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
C7_chr5_40904497_40989643 | 40949360 | C | CAAA | intron_variant | MODIFIER | HG00408.hp2 HG01243.hp2 HG02486.hp1 others(5): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0002g0221a0001c0001t0002g0244a0001c0001t0003g0219others(5): Show | 8 | 380 | 0.0211 | 3 | c.983 others(18): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
C7_chr5_40904497_40989643 | 40953639 | C | CAAA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00423.hp1 others(137): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0025a0002c0002others(15): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0006others(35): Show | a0001c0001t0004g0373a0001c0001t0005g0032a0001c0001t0005g0040others(137): Show | 140 | 380 | 0.3684 | 3 | c.109 others(22): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
C7_chr5_40904497_40989643 | 40954877 | C | CAAA | intron_variant | MODIFIER | HG00673.hp1 HG01934.hp2 HG02040.hp1 others(15): Show |
a0002a0004a0013others(1): Show | a0002c0002a0004c0004a0013c0015others(1): Show | a0002c0002t0004a0002c0002t0005a0002c0002t0006others(6): Show | a0002c0002t0004g0105a0002c0002t0005g0153a0002c0002t0006g0150others(15): Show | 18 | 380 | 0.0474 | 3 | c.109 others(20): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
C7_chr5_40904497_40989643 | 40965646 | A | ATTT | intron_variant | MODIFIER | HG00544.hp2 HG03490.hp1 HG03492.hp1 |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0016a0004c0004t0002 | a0002c0002t0016g0114a0002c0002t0016g0115a0004c0004t0002g0307 | 3 | 380 | 0.0079 | 3 | c.188 others(20): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
C7_chr5_40904497_40989643 | 40965648 | A | ATTT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(85): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0034others(13): Show | a0001c0001t0001g0046a0001c0001t0002g0003a0001c0001t0002g0010others(84): Show | 88 | 380 | 0.2316 | 3 | c.188 others(20): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
C7_chr5_40904497_40989643 | 40968601 | T | TATA | intron_variant | MODIFIER | HG01257.hp2 NA18971.hp1 NA18972.hp1 |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0082a0002c0002t0004g0185a0002c0002t0004g0197 | 3 | 380 | 0.0079 | 3 | c.188 others(22): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 14/17 | chr5 | TogoVar | ||||||
C7orf31_chr7_25129692_25185354 | 25153563 | C | CAAA | intron_variant | MODIFIER | HG01081.hp2 HG01255.hp1 HG01993.hp1 others(7): Show |
a0004a0005a0008others(1): Show | a0004c0004a0005c0006a0008c0008others(1): Show | a0004c0004t0002a0005c0006t0002a0008c0008t0002others(1): Show | a0004c0004t0002g0275a0004c0004t0002g0282a0005c0006t0002g0261others(6): Show | 10 | 416 | 0.0240 | 3 | c.595 others(20): Show |
C7orf31 | ENSG00000153790.12 | transcript | ENST00000283905.8 | protein_coding | 6/9 | chr7 | TogoVar | ||||||
C7orf31_chr7_25129692_25185354 | 25158368 | C | CAAA | intron_variant | MODIFIER | HG01109.hp1 HG01261.hp1 HG01358.hp2 others(25): Show |
a0002a0005a0006others(2): Show | a0002c0002a0005c0010a0006c0009others(2): Show | a0002c0002t0001a0002c0002t0010a0005c0010t0002others(3): Show | a0002c0002t0001g0017a0002c0002t0001g0029a0002c0002t0001g0030others(20): Show | 28 | 416 | 0.0673 | 3 | c.413 others(18): Show |
C7orf31 | ENSG00000153790.12 | transcript | ENST00000283905.8 | protein_coding | 5/9 | chr7 | TogoVar | ||||||
C7orf31_chr7_25129692_25185354 | 25166230 | C | CTTT | intron_variant | MODIFIER | HG02559.hp1 HG02735.hp1 NA18972.hp2 |
a0004a0008 | a0004c0004a0004c0015a0008c0008 | a0004c0004t0002a0004c0015t0002a0008c0008t0002 | a0004c0004t0002g0285a0004c0015t0002g0286a0008c0008t0002g0094 | 3 | 416 | 0.0072 | 3 | c.311 others(20): Show |
C7orf31 | ENSG00000153790.12 | transcript | ENST00000283905.8 | protein_coding | 3/9 | chr7 | TogoVar | ||||||
C7orf33_chr7_148585766_148620860 | 148600799 | C | CTTT | intron_variant | MODIFIER | HG01884.hp2 HG02630.hp1 HG02818.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0002c0002t0005 | a0001c0001t0001g0377a0001c0001t0001g0378a0001c0001t0004g0376others(3): Show | 6 | 444 | 0.0135 | 3 | c.204 others(20): Show |
C7orf33 | ENSG00000170279.3 | transcript | ENST00000307003.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
C7orf33_chr7_148585766_148620860 | 148607429 | C | CCTT | intron_variant | MODIFIER | HG02572.hp2 HG02723.hp1 HG02965.hp2 others(2): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0005others(2): Show | a0001c0001t0001g0336a0001c0001t0002g0387a0002c0002t0005g0384others(2): Show | 5 | 444 | 0.0113 | 3 | c.205 others(20): Show |
C7orf33 | ENSG00000170279.3 | transcript | ENST00000307003.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
C7orf33_chr7_148585766_148620860 | 148617291 | A | ACAT | downstream_gene_variant | MODIFIER | HG02055.hp2 HG02109.hp2 HG02451.hp2 others(8): Show |
a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0001a0002c0002t0005g0046a0002c0002t0005g0085others(6): Show | 11 | 444 | 0.0248 | 3 | c.*18 others(14): Show |
C7orf33 | ENSG00000170279.3 | transcript | ENST00000307003.3 | protein_coding | 1432 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1016321 | A | ATGC | intron_variant | MODIFIER | HG02109.hp2 HG02622.hp2 HG02970.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0014 | a0001c0001t0003g0245a0001c0001t0003g0246a0001c0001t0014g0158others(3): Show | 6 | 326 | 0.0184 | 3 | c.130 others(20): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1016399 | A | ATGC | intron_variant | MODIFIER | HG01081.hp2 HG02451.hp2 HG02486.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007 | a0001c0001t0001g0099a0001c0001t0003g0205a0001c0001t0003g0238others(4): Show | 7 | 326 | 0.0215 | 3 | c.130 others(20): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1016765 | A | ACAG | intron_variant | MODIFIER | HG01081.hp2 HG02451.hp2 HG02486.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0001g0099a0001c0001t0003g0205a0001c0001t0003g0238others(5): Show | 8 | 326 | 0.0245 | 3 | c.130 others(20): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1016765 | A | ACGC | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00558.hp2 others(59): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0002g0208a0001c0001t0002g0211a0001c0001t0002g0214others(59): Show | 62 | 326 | 0.1902 | 3 | c.130 others(20): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1016782 | A | ACGC | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02257.hp2 others(17): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(4): Show | a0001c0001t0002g0318a0001c0001t0003g0249a0001c0001t0003g0250others(17): Show | 20 | 326 | 0.0614 | 3 | c.130 others(20): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1016787 | A | AGCG | intron_variant | MODIFIER | HG01167.hp2 HG02965.hp1 NA18948.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0008 | a0001c0001t0002g0209a0001c0001t0002g0215a0001c0001t0005g0247others(1): Show | 4 | 326 | 0.0123 | 3 | c.130 others(20): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1016859 | A | ACGC | intron_variant | MODIFIER | HG01081.hp2 HG01167.hp2 HG01243.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0099a0001c0001t0002g0209a0001c0001t0003g0205others(11): Show | 14 | 326 | 0.0429 | 3 | c.130 others(20): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1016866 | A | ACGC | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00621.hp1 others(40): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0002a0001c0001t0013a0001c0001t0029others(2): Show | a0001c0001t0002g0208a0001c0001t0002g0211a0001c0001t0002g0214others(40): Show | 43 | 326 | 0.1319 | 3 | c.130 others(20): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1034841 | T | TTTG | intron_variant | MODIFIER | HG01081.hp2 HG02451.hp2 HG02486.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007 | a0001c0001t0001g0099a0001c0001t0003g0205a0001c0001t0003g0238others(4): Show | 7 | 326 | 0.0215 | 3 | c.130 others(22): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1059968 | C | CGGG | intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG00733.hp1 others(17): Show |
a0001a0009 | a0001c0001a0009c0003 | a0001c0001t0007a0001c0001t0008a0001c0001t0009others(3): Show | a0001c0001t0007g0130a0001c0001t0007g0137a0001c0001t0008g0116others(17): Show | 20 | 326 | 0.0614 | 3 | c.130 others(22): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1074016 | T | TCCC | intron_variant | MODIFIER | HG01071.hp2 HG01074.hp2 HG01109.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0010a0001c0001t0026 | a0001c0001t0007g0118a0001c0001t0007g0126a0001c0001t0007g0129others(13): Show | 16 | 326 | 0.0491 | 3 | c.129 others(22): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1115803 | G | GGAT | intron_variant | MODIFIER | HG00741.hp2 HG01109.hp1 HG03098.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0009 | a0001c0001t0003g0275a0001c0001t0007g0137a0001c0001t0007g0146others(1): Show | 4 | 326 | 0.0123 | 3 | c.129 others(22): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1115910 | G | GGAT | intron_variant | MODIFIER | HG01109.hp1 HG02071.hp1 HG03098.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(1): Show | a0001c0001t0002g0214a0001c0001t0004g0177a0001c0001t0004g0179others(3): Show | 6 | 326 | 0.0184 | 3 | c.129 others(22): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1116130 | G | GGAT | intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG00741.hp1 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007a0001c0001t0008others(3): Show | a0001c0001t0004g0177a0001c0001t0004g0179a0001c0001t0007g0124others(31): Show | 34 | 326 | 0.1043 | 3 | c.129 others(22): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1116183 | G | GGAT | intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG00741.hp1 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007a0001c0001t0008others(3): Show | a0001c0001t0004g0177a0001c0001t0004g0179a0001c0001t0007g0124others(30): Show | 33 | 326 | 0.1012 | 3 | c.129 others(22): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1116236 | G | GGAT | intron_variant | MODIFIER | HG00639.hp2 HG01168.hp1 HG01169.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(4): Show | a0001c0001t0003g0263a0001c0001t0004g0177a0001c0001t0004g0179others(6): Show | 9 | 326 | 0.0276 | 3 | c.129 others(22): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1116289 | G | GGAT | intron_variant | MODIFIER | HG00323.hp2 HG01099.hp2 HG01109.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0002g0214a0001c0001t0002g0262a0001c0001t0002g0283others(14): Show | 17 | 326 | 0.0522 | 3 | c.129 others(22): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1117401 | G | GGAT | intron_variant | MODIFIER | HG01109.hp2 HG01167.hp2 HG02109.hp2 others(18): Show |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0004a0001c0001t0007a0001c0001t0008others(4): Show | a0001c0001t0004g0177a0001c0001t0004g0179a0001c0001t0004g0191others(18): Show | 21 | 326 | 0.0644 | 3 | c.129 others(20): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1118799 | C | CAAA | intron_variant | MODIFIER | HG00642.hp2 HG00738.hp2 HG01074.hp1 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0002g0208a0001c0001t0002g0209a0001c0001t0002g0211others(33): Show | 36 | 326 | 0.1104 | 3 | c.129 others(20): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1119875 | C | CAAA | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp2 HG00621.hp1 others(27): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0002g0255a0001c0001t0002g0256a0001c0001t0002g0257others(27): Show | 30 | 326 | 0.0920 | 3 | c.129 others(20): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1126359 | C | CAAA | intron_variant | MODIFIER | HG01496.hp1 HG01934.hp1 HG02083.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0003g0298a0001c0001t0004g0176a0001c0001t0004g0177others(24): Show | 27 | 326 | 0.0828 | 3 | c.129 others(18): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1132694 | T | TAAA | intron_variant | MODIFIER | HG00099.hp1 HG01496.hp1 HG01884.hp1 others(30): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0003g0298a0001c0001t0003g0307a0001c0001t0004g0176others(30): Show | 33 | 326 | 0.1012 | 3 | c.-2+ others(18): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1133392 | C | CAAA | intron_variant | MODIFIER | HG00099.hp1 HG02109.hp1 HG02559.hp2 others(12): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0006 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0002g0318a0001c0001t0003g0307a0001c0001t0005g0308others(12): Show | 15 | 326 | 0.0460 | 3 | c.-2+ others(18): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1142645 | C | CTTT | upstream_gene_variant | MODIFIER | HG02145.hp1 HG03209.hp1 HG03225.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0003g0290a0001c0001t0003g0298a0001c0001t0004g0176others(3): Show | 6 | 326 | 0.0184 | 3 | c.-53 others(14): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 4399 | chr7 | TogoVar | ||||||
C7orf57_chr7_48030543_48066297 | 48051347 | A | ATTT | intron_variant | MODIFIER | HG01256.hp1 HG01433.hp1 HG01517.hp2 others(7): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0001 | a0001c0002t0001g0122a0001c0002t0001g0125a0001c0002t0001g0126others(7): Show | 10 | 404 | 0.0248 | 3 | c.606 others(20): Show |
C7orf57 | ENSG00000164746.14 | transcript | ENST00000348904.4 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
C7orf57_chr7_48030543_48066297 | 48051770 | C | CTTT | intron_variant | MODIFIER | NA19054.hp2 NA19064.hp1 NA19076.hp2 others(1): Show |
a0001a0006 | a0001c0002a0006c0006 | a0001c0002t0001a0006c0006t0002 | a0001c0002t0001g0165a0001c0002t0001g0188a0001c0002t0001g0196others(1): Show | 4 | 404 | 0.0099 | 3 | c.606 others(18): Show |
C7orf57 | ENSG00000164746.14 | transcript | ENST00000348904.4 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
C7orf57_chr7_48030543_48066297 | 48051801 | T | TTTC | intron_variant | MODIFIER | HG01081.hp1 HG01256.hp2 HG01515.hp1 others(3): Show |
a0002a0005 | a0002c0001a0005c0008 | a0002c0001t0002a0002c0001t0009a0005c0008t0002 | a0002c0001t0002g0033a0002c0001t0002g0314a0002c0001t0002g0327others(2): Show | 6 | 404 | 0.0149 | 3 | c.606 others(18): Show |
C7orf57 | ENSG00000164746.14 | transcript | ENST00000348904.4 | protein_coding | 6/8 | chr7 | TogoVar | ||||||
C7orf57_chr7_48030543_48066297 | 48051808 | T | TTCC | intron_variant | MODIFIER | HG01109.hp2 HG02922.hp1 NA18906.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0061a0003c0003t0001g0153a0003c0003t0001g0154 | 3 | 404 | 0.0074 | 3 | c.606 others(18): Show |
C7orf57 | ENSG00000164746.14 | transcript | ENST00000348904.4 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
C7orf57_chr7_48030543_48066297 | 48054845 | A | AGAT | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00544.hp2 others(59): Show |
a0001a0002 | a0001c0002a0001c0004a0002c0001 | a0001c0002t0001a0001c0004t0001a0002c0001t0001others(1): Show | a0001c0002t0001g0010a0001c0002t0001g0023a0001c0002t0001g0024others(48): Show | 62 | 404 | 0.1535 | 3 | c.841 others(18): Show |
C7orf57 | ENSG00000164746.14 | transcript | ENST00000348904.4 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
C8A_chr1_56849797_56923223 | 56870683 | T | TAAA | intron_variant | MODIFIER | HG02055.hp1 HG02145.hp2 HG02486.hp1 others(9): Show |
a0001a0003a0006 | a0001c0001a0003c0003a0006c0006 | a0001c0001t0001a0001c0001t0005a0003c0003t0002others(1): Show | a0001c0001t0001g0070a0001c0001t0001g0109a0001c0001t0001g0217others(8): Show | 12 | 366 | 0.0328 | 3 | c.171 others(20): Show |
C8A | ENSG00000157131.12 | transcript | ENST00000361249.4 | protein_coding | 2/10 | chr1 | TogoVar |