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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CEP350_chr1_179949810_180119875 | 180024080 | ATTG | A | intron_variant | MODIFIER | HG00639.hp1 HG01167.hp2 HG01169.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0125a0002c0002t0005g0134a0002c0002t0005g0135others(1): Show | 4 | 248 | 0.0161 | -3 | c.338 others(20): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 13/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CEP350_chr1_179949810_180119875 | 180050673 | CAAA | C | intron_variant | MODIFIER | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(20): Show |
a0002a0007a0008others(1): Show | a0002c0002a0007c0008a0008c0009others(1): Show | a0002c0002t0004a0002c0002t0020a0007c0008t0006others(3): Show | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(20): Show | 23 | 248 | 0.0927 | -3 | c.479 others(22): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CEP350_chr1_179949810_180119875 | 180098330 | TTTG | T | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00544.hp1 others(238): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0011a0001c0033others(29): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0014others(42): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(237): Show | 241 | 248 | 0.9718 | -3 | c.906 others(20): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 36/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CEP350_chr1_179949810_180119875 | 180116171 | TAAC | T | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
a0007 | a0007c0008a0007c0031 | a0007c0008t0006a0007c0008t0011a0007c0031t0006 | a0007c0008t0006g0013a0007c0008t0006g0014a0007c0008t0006g0015others(3): Show | 6 | 248 | 0.0242 | -3 | c.*50 others(14): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1297 | chr1 | TogoVar | ||||||
CEP41_chr7_130388771_130446016 | 130420328 | CAAA | C | intron_variant | MODIFIER | HG00558.hp2 HG01934.hp1 HG02055.hp2 others(4): Show |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0013a0004c0003t0067 | a0001c0001t0013g0007a0001c0001t0013g0028a0001c0001t0013g0029others(3): Show | 7 | 346 | 0.0202 | -3 | c.98- others(18): Show |
CEP41 | ENSG00000106477.20 | transcript | ENST00000223208.10 | protein_coding | 2/10 | chr7 | TogoVar | ||||||
CEP43_chr6_166994397_167057718 | 166996335 | CTTG | C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(138): Show |
a0001a0005 | a0001c0001a0001c0006a0005c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(69): Show | a0001c0001t0001g0152a0001c0001t0002g0006a0001c0001t0002g0007others(128): Show | 141 | 376 | 0.3750 | -3 | c.-30 others(14): Show |
CEP43 | ENSG00000213066.14 | transcript | ENST00000366847.9 | protein_coding | 3061 | chr6 | TogoVar | ||||||
CEP43_chr6_166994397_167057718 | 167008359 | CCTT | C | intron_variant | MODIFIER | HG01109.hp1 HG02280.hp2 HG02622.hp2 others(5): Show |
a0003 | a0003c0003 | a0003c0003t0009a0003c0003t0081a0003c0003t0082others(1): Show | a0003c0003t0009g0035a0003c0003t0009g0036a0003c0003t0009g0191others(3): Show | 8 | 376 | 0.0213 | -3 | c.439 others(20): Show |
CEP43 | ENSG00000213066.14 | transcript | ENST00000366847.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CEP43_chr6_166994397_167057718 | 167009499 | CAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00408.hp1 others(183): Show |
a0001a0004 | a0001c0001a0001c0006a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(114): Show | a0001c0001t0001g0012a0001c0001t0001g0106a0001c0001t0001g0107others(173): Show | 186 | 376 | 0.4947 | -3 | c.439 others(20): Show |
CEP43 | ENSG00000213066.14 | transcript | ENST00000366847.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CEP43_chr6_166994397_167057718 | 167009527 | AAAT | A | intron_variant | MODIFIER | HG02080.hp2 HG02145.hp2 HG04204.hp1 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0015a0002c0002t0035a0002c0002t0091others(7): Show | a0002c0002t0015g0039a0002c0002t0035g0209a0002c0002t0091g0039others(7): Show | 10 | 376 | 0.0266 | -3 | c.439 others(20): Show |
CEP43 | ENSG00000213066.14 | transcript | ENST00000366847.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CEP43_chr6_166994397_167057718 | 167020908 | CAAA | C | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG00621.hp1 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0010a0001c0001t0030others(14): Show | a0001c0001t0008g0018a0001c0001t0008g0033a0001c0001t0008g0188others(23): Show | 30 | 376 | 0.0798 | -3 | c.580 others(20): Show |
CEP43 | ENSG00000213066.14 | transcript | ENST00000366847.9 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CEP43_chr6_166994397_167057718 | 167024002 | TAAC | T | intron_variant | MODIFIER | HG00597.hp2 HG00609.hp1 HG00621.hp2 others(19): Show |
a0002a0006 | a0002c0002a0006c0007 | a0002c0002t0015a0002c0002t0035a0002c0002t0036others(14): Show | a0002c0002t0015g0037a0002c0002t0015g0038a0002c0002t0015g0039others(19): Show | 22 | 376 | 0.0585 | -3 | c.807 others(18): Show |
CEP43 | ENSG00000213066.14 | transcript | ENST00000366847.9 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CEP43_chr6_166994397_167057718 | 167033099 | CTTT | C | intron_variant | MODIFIER | HG01256.hp1 HG02004.hp2 HG02083.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0002g0218a0001c0001t0002g0246a0001c0001t0002g0269others(10): Show | 13 | 376 | 0.0346 | -3 | c.102 others(20): Show |
CEP43 | ENSG00000213066.14 | transcript | ENST00000366847.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CEP43_chr6_166994397_167057718 | 167041022 | AAAC | A | 3_prime_UTR_variant | MODIFIER | HG00597.hp2 HG00609.hp1 HG00621.hp2 others(19): Show |
a0002a0006 | a0002c0002a0006c0007 | a0002c0002t0015a0002c0002t0035a0002c0002t0036others(14): Show | a0002c0002t0015g0037a0002c0002t0015g0038a0002c0002t0015g0039others(19): Show | 22 | 376 | 0.0585 | -3 | c.*10 others(14): Show |
CEP43 | ENSG00000213066.14 | transcript | ENST00000366847.9 | protein_coding | 13/13 | 1046 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||
CEP44_chr4_174278911_174325328 | 174289295 | CTTT | C | intron_variant | MODIFIER | HG00609.hp1 HG00621.hp2 HG00673.hp1 others(32): Show |
a0002a0007 | a0002c0002a0007c0007 | a0002c0002t0004a0002c0002t0013a0002c0002t0030others(1): Show | a0002c0002t0004g0013a0002c0002t0004g0022a0002c0002t0004g0023others(27): Show | 35 | 388 | 0.0902 | -3 | c.-14 others(22): Show |
CEP44 | ENSG00000164118.13 | transcript | ENST00000503780.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CEP44_chr4_174278911_174325328 | 174318503 | TTAC | T | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(129): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0008others(3): Show | a0001c0001t0005a0002c0002t0003a0002c0002t0004others(20): Show | a0001c0001t0005g0274a0002c0002t0003g0004a0002c0002t0003g0015others(111): Show | 132 | 388 | 0.3402 | -3 | c.*11 others(14): Show |
CEP44 | ENSG00000164118.13 | transcript | ENST00000503780.6 | protein_coding | 12/12 | 1126 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||
CEP55_chr10_93491612_93534092 | 93495952 | ACCC | A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00544.hp1 others(101): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0022a0002c0002others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0022t0001others(21): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0012others(75): Show | 104 | 386 | 0.2694 | -3 | c.-98 others(12): Show |
CEP55 | ENSG00000138180.16 | transcript | ENST00000371485.8 | protein_coding | 659 | chr10 | TogoVar | ||||||
CEP55_chr10_93491612_93534092 | 93509468 | CATT | C | intron_variant | MODIFIER | HG02055.hp2 HG02135.hp1 HG02165.hp1 others(6): Show |
a0001a0002a0007others(1): Show | a0001c0001a0002c0002a0007c0007others(1): Show | a0001c0001t0001a0002c0002t0002a0007c0007t0006others(2): Show | a0001c0001t0001g0190a0001c0001t0001g0218a0002c0002t0002g0026others(5): Show | 9 | 386 | 0.0233 | -3 | c.528 others(20): Show |
CEP55 | ENSG00000138180.16 | transcript | ENST00000371485.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CEP55_chr10_93491612_93534092 | 93512514 | CAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG01074.hp1 others(15): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(4): Show | a0001c0001t0001g0208a0001c0001t0001g0209a0001c0001t0001g0217others(13): Show | 18 | 386 | 0.0466 | -3 | c.529 others(20): Show |
CEP55 | ENSG00000138180.16 | transcript | ENST00000371485.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CEP55_chr10_93491612_93534092 | 93532430 | CAAA | C | downstream_gene_variant | MODIFIER | HG01099.hp1 HG01243.hp2 HG02004.hp2 others(31): Show |
a0003a0005a0007others(5): Show | a0003c0003a0005c0005a0007c0007others(5): Show | a0003c0003t0002a0003c0003t0004a0003c0003t0009others(9): Show | a0003c0003t0002g0021a0003c0003t0004g0072a0003c0003t0009g0063others(19): Show | 34 | 386 | 0.0881 | -3 | c.*42 others(14): Show |
CEP55 | ENSG00000138180.16 | transcript | ENST00000371485.8 | protein_coding | 3339 | chr10 | TogoVar | ||||||
CEP57L1_chr6_109090507_109179418 | 109116134 | GTTA | G | intron_variant | MODIFIER | HG02572.hp1 HG03540.hp2 HG03579.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0027a0001c0001t0028 | a0001c0001t0012g0218a0001c0001t0012g0219a0001c0001t0027g0217others(1): Show | 4 | 228 | 0.0175 | -3 | c.-4+ others(20): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CEP57L1_chr6_109090507_109179418 | 109137408 | TCTC | T | intron_variant | MODIFIER | HG01891.hp2 HG02647.hp1 HG02897.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0083 | a0001c0001t0008g0112a0001c0001t0008g0113a0001c0001t0008g0116others(1): Show | 4 | 228 | 0.0175 | -3 | c.-3- others(18): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CEP57L1_chr6_109090507_109179418 | 109143254 | ACTC | A | intron_variant | MODIFIER | HG02572.hp2 HG02895.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0059a0001c0001t0060 | a0001c0001t0006g0166a0001c0001t0059g0165a0001c0001t0060g0174 | 3 | 228 | 0.0132 | -3 | c.-3- others(18): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CEP57L1_chr6_109090507_109179418 | 109147567 | TAGA | T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00738.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0025a0002c0002t0070a0002c0002t0071others(1): Show | a0002c0002t0025g0020a0002c0002t0025g0025a0002c0002t0070g0021others(2): Show | 5 | 228 | 0.0219 | -3 | c.340 others(18): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CEP57L1_chr6_109090507_109179418 | 109157943 | CCTT | C | intron_variant | MODIFIER | HG02572.hp1 HG03225.hp1 HG03540.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0027a0001c0001t0028 | a0001c0001t0012g0218a0001c0001t0012g0219a0001c0001t0012g0220others(2): Show | 5 | 228 | 0.0219 | -3 | c.745 others(20): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CEP57L1_chr6_109090507_109179418 | 109169226 | CAAA | C | 3_prime_UTR_variant | MODIFIER | HG02109.hp1 HG02486.hp2 HG02559.hp1 others(2): Show |
a0002a0006 | a0002c0002a0006c0008 | a0002c0002t0078a0002c0002t0079a0002c0002t0080others(2): Show | a0002c0002t0078g0205a0002c0002t0079g0209a0002c0002t0080g0210others(2): Show | 5 | 228 | 0.0219 | -3 | c.*62 others(14): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 11/11 | 6275 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||
CEP57_chr11_95785498_95837693 | 95814069 | ATCT | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(86): Show |
a0002 | a0002c0002a0002c0004a0002c0007 | a0002c0002t0002a0002c0002t0004a0002c0002t0010others(2): Show | a0002c0002t0002g0015a0002c0002t0002g0016a0002c0002t0002g0017others(72): Show | 89 | 340 | 0.2618 | -3 | c.504 others(18): Show |
CEP57 | ENSG00000166037.11 | transcript | ENST00000325542.10 | protein_coding | 4/10 | chr11 | TogoVar | ||||||
CEP57_chr11_95785498_95837693 | 95823592 | GACT | G | intron_variant | MODIFIER | HG02109.hp1 HG02145.hp1 HG02258.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0005a0001c0001t0003g0014a0001c0001t0003g0144others(3): Show | 12 | 340 | 0.0353 | -3 | c.885 others(20): Show |
CEP57 | ENSG00000166037.11 | transcript | ENST00000325542.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CEP57_chr11_95785498_95837693 | 95834061 | AAAG | A | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00558.hp2 others(56): Show |
a0001a0003a0006 | a0001c0001a0001c0006a0003c0005others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0006t0003others(2): Show | a0001c0001t0003g0001a0001c0001t0003g0005a0001c0001t0003g0007others(30): Show | 59 | 340 | 0.1735 | -3 | c.*28 others(14): Show |
CEP57 | ENSG00000166037.11 | transcript | ENST00000325542.10 | protein_coding | 1369 | chr11 | TogoVar | ||||||
CEP63_chr3_134481057_134570031 | 134485991 | GCCC | G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(216): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(28): Show | a0001c0001t0001g0008a0001c0001t0001g0129a0001c0001t0001g0130others(211): Show | 219 | 322 | 0.6801 | -3 | c.-23 others(12): Show |
CEP63 | ENSG00000182923.20 | transcript | ENST00000675561.1 | protein_coding | 65 | chr3 | TogoVar | ||||||
CEP63_chr3_134481057_134570031 | 134494338 | ACTC | A | intron_variant | MODIFIER | HG03490.hp1 HG03492.hp2 HG03654.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0301 | 3 | 322 | 0.0093 | -3 | c.-25 others(18): Show |
CEP63 | ENSG00000182923.20 | transcript | ENST00000675561.1 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CEP63_chr3_134481057_134570031 | 134513586 | CATT | C | intron_variant | MODIFIER | HG03704.hp1 NA18940.hp2 NA18951.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0120a0001c0001t0005g0121a0001c0001t0005g0122others(6): Show | 9 | 322 | 0.0280 | -3 | c.222 others(20): Show |
CEP63 | ENSG00000182923.20 | transcript | ENST00000675561.1 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CEP63_chr3_134481057_134570031 | 134538198 | GTTT | G | intron_variant | MODIFIER | HG00741.hp1 HG02895.hp1 HG02895.hp2 others(8): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0131a0001c0003t0001g0006a0001c0003t0001g0140others(7): Show | 11 | 322 | 0.0342 | -3 | c.555 others(18): Show |
CEP63 | ENSG00000182923.20 | transcript | ENST00000675561.1 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CEP63_chr3_134481057_134570031 | 134547614 | CTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00544.hp2 others(96): Show |
a0001a0006 | a0001c0001a0006c0012 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0009others(91): Show | 99 | 322 | 0.3075 | -3 | c.106 others(20): Show |
CEP63 | ENSG00000182923.20 | transcript | ENST00000675561.1 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CEP68_chr2_65051416_65092004 | 65058497 | CTTT | C | intron_variant | MODIFIER | HG01361.hp1 HG02148.hp2 HG04115.hp1 others(4): Show |
a0001a0002a0003 | a0001c0006a0002c0002a0002c0010others(1): Show | a0001c0006t0025a0002c0002t0002a0002c0010t0002others(2): Show | a0001c0006t0025g0128a0002c0002t0002g0091a0002c0002t0002g0093others(4): Show | 7 | 360 | 0.0194 | -3 | c.-47 others(20): Show |
CEP68 | ENSG00000011523.15 | transcript | ENST00000377990.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CEP68_chr2_65051416_65092004 | 65066744 | AAAT | A | intron_variant | MODIFIER | HG01106.hp2 HG01358.hp1 HG01952.hp2 others(14): Show |
a0002a0003a0006 | a0002c0002a0002c0033a0003c0003others(1): Show | a0002c0002t0002a0002c0033t0002a0003c0003t0003others(1): Show | a0002c0002t0002g0003a0002c0002t0002g0073a0002c0002t0002g0077others(7): Show | 17 | 360 | 0.0472 | -3 | c.-46 others(20): Show |
CEP68 | ENSG00000011523.15 | transcript | ENST00000377990.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CEP68_chr2_65051416_65092004 | 65066746 | ATAT | A | intron_variant | MODIFIER | HG02280.hp1 HG03927.hp1 NA18522.hp1 |
a0001 | a0001c0006 | a0001c0006t0006 | a0001c0006t0006g0113a0001c0006t0006g0114a0001c0006t0006g0124 | 3 | 360 | 0.0083 | -3 | c.-46 others(20): Show |
CEP68 | ENSG00000011523.15 | transcript | ENST00000377990.7 | protein_coding | 1/6 | chr2 | TogoVar | ||||||
CEP68_chr2_65051416_65092004 | 65071512 | GAAC | G | disruptive_inframe_deletion | MODERATE | HG01081.hp2 HG01123.hp1 HG01261.hp2 others(16): Show |
a0005 | a0005c0005a0005c0029 | a0005c0005t0001a0005c0005t0005a0005c0005t0014others(3): Show | a0005c0005t0001g0137a0005c0005t0001g0139a0005c0005t0005g0012others(11): Show | 19 | 360 | 0.0528 | -3 | c.423 others(10): Show |
p.Thr others(6): Show |
CEP68 | ENSG00000011523.15 | transcript | ENST00000377990.7 | protein_coding | 3/7 | 582/5803 | 423/2274 | 141/757 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
CEP68_chr2_65051416_65092004 | 65072937 | AAGG | A | disruptive_inframe_deletion | MODERATE | HG02055.hp1 HG02559.hp1 HG02809.hp1 others(2): Show |
a0006 | a0006c0008 | a0006c0008t0001a0006c0008t0009 | a0006c0008t0001g0247a0006c0008t0009g0029a0006c0008t0009g0117others(1): Show | 5 | 360 | 0.0139 | -3 | c.184 others(12): Show |
p.Gly others(6): Show |
CEP68 | ENSG00000011523.15 | transcript | ENST00000377990.7 | protein_coding | 3/7 | 2006/5803 | 1847/2274 | 616/757 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
CEP68_chr2_65051416_65092004 | 65076640 | TAAC | T | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(190): Show |
a0001a0003a0005others(6): Show | a0001c0001a0001c0009a0001c0012others(11): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(29): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(140): Show | 193 | 360 | 0.5361 | -3 | c.200 others(22): Show |
CEP68 | ENSG00000011523.15 | transcript | ENST00000377990.7 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CEP68_chr2_65051416_65092004 | 65089702 | ATTT | A | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(257): Show |
a0001a0003a0004others(10): Show | a0001c0001a0001c0009a0001c0012others(18): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(45): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0008others(191): Show | 260 | 360 | 0.7222 | -3 | c.*60 others(14): Show |
CEP68 | ENSG00000011523.15 | transcript | ENST00000377990.7 | protein_coding | 2699 | chr2 | TogoVar | ||||||
CEP70_chr3_138489344_138599260 | 138489449 | GTTT | G | downstream_gene_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00621.hp2 others(77): Show |
a0002a0004 | a0002c0002a0002c0012a0004c0006 | a0002c0002t0001a0002c0002t0002a0002c0012t0002others(1): Show | a0002c0002t0001g0197a0002c0002t0002g0002a0002c0002t0002g0005others(65): Show | 80 | 318 | 0.2516 | -3 | c.*55 others(14): Show |
CEP70 | ENSG00000114107.9 | transcript | ENST00000264982.8 | protein_coding | 4894 | chr3 | TogoVar | ||||||
CEP70_chr3_138489344_138599260 | 138515059 | CAAG | C | intron_variant | MODIFIER | HG00735.hp2 HG01891.hp1 HG06807.hp2 |
a0004 | a0004c0006 | a0004c0006t0005 | a0004c0006t0005g0028a0004c0006t0005g0030a0004c0006t0005g0031 | 3 | 318 | 0.0094 | -3 | c.945 others(20): Show |
CEP70 | ENSG00000114107.9 | transcript | ENST00000264982.8 | protein_coding | 11/17 | chr3 | TogoVar | ||||||
CEP70_chr3_138489344_138599260 | 138527694 | CAAA | C | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00558.hp2 others(77): Show |
a0002 | a0002c0002a0002c0012 | a0002c0002t0002a0002c0012t0002 | a0002c0002t0002g0002a0002c0002t0002g0005a0002c0002t0002g0006others(65): Show | 80 | 318 | 0.2516 | -3 | c.869 others(20): Show |
CEP70 | ENSG00000114107.9 | transcript | ENST00000264982.8 | protein_coding | 10/17 | chr3 | TogoVar | ||||||
CEP70_chr3_138489344_138599260 | 138529336 | TTTA | T | intron_variant | MODIFIER | HG00735.hp2 HG01891.hp1 HG06807.hp2 |
a0004 | a0004c0006 | a0004c0006t0005 | a0004c0006t0005g0028a0004c0006t0005g0030a0004c0006t0005g0031 | 3 | 318 | 0.0094 | -3 | c.780 others(16): Show |
CEP70 | ENSG00000114107.9 | transcript | ENST00000264982.8 | protein_coding | 9/17 | chr3 | TogoVar | ||||||
CEP70_chr3_138489344_138599260 | 138535795 | CTCT | C | intron_variant | MODIFIER | HG00140.hp2 HG01167.hp2 HG03492.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131a0001c0001t0001g0148a0001c0001t0001g0149others(2): Show | 5 | 318 | 0.0157 | -3 | c.635 others(20): Show |
CEP70 | ENSG00000114107.9 | transcript | ENST00000264982.8 | protein_coding | 7/17 | chr3 | TogoVar | ||||||
CEP70_chr3_138489344_138599260 | 138583973 | GAAC | G | intron_variant | MODIFIER | HG00735.hp2 HG01891.hp1 HG02615.hp2 others(2): Show |
a0001a0004 | a0001c0004a0004c0006 | a0001c0004t0006a0004c0006t0005 | a0001c0004t0006g0029a0001c0004t0006g0032a0004c0006t0005g0028others(2): Show | 5 | 318 | 0.0157 | -3 | c.-6+ others(18): Show |
CEP70 | ENSG00000114107.9 | transcript | ENST00000264982.8 | protein_coding | 2/17 | chr3 | TogoVar | ||||||
CEP76_chr18_12667625_12707723 | 12667848 | CTTT | C | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00639.hp2 HG00735.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0020others(9): Show | 15 | 380 | 0.0395 | -3 | c.*55 others(14): Show |
CEP76 | ENSG00000101624.11 | transcript | ENST00000262127.7 | protein_coding | 4776 | chr18 | TogoVar | ||||||
CEP76_chr18_12667625_12707723 | 12671639 | TTTC | T | downstream_gene_variant | MODIFIER | HG02615.hp1 HG02895.hp2 HG02897.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0016a0001c0001t0003g0280a0001c0001t0003g0281others(4): Show | 7 | 380 | 0.0184 | -3 | c.*17 others(14): Show |
CEP76 | ENSG00000101624.11 | transcript | ENST00000262127.7 | protein_coding | 985 | chr18 | TogoVar | ||||||
CEP76_chr18_12667625_12707723 | 12673532 | TAAG | T | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp1 HG02258.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0014a0001c0001t0002g0236 | 4 | 380 | 0.0105 | -3 | c.184 others(18): Show |
CEP76 | ENSG00000101624.11 | transcript | ENST00000262127.7 | protein_coding | 11/11 | chr18 | TogoVar | ||||||
CEP76_chr18_12667625_12707723 | 12681711 | GAAC | G | intron_variant | MODIFIER | HG02615.hp1 HG02895.hp1 HG02895.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0047a0001c0001t0006g0059a0001c0001t0006g0060others(2): Show | 5 | 380 | 0.0132 | -3 | c.112 others(20): Show |
CEP76 | ENSG00000101624.11 | transcript | ENST00000262127.7 | protein_coding | 8/11 | chr18 | TogoVar |