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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCA12_chr2_214926542_215143626 | 215041551 | C | CA | intron_variant | MODIFIER | HG01346.hp2 HG01891.hp1 HG02055.hp2 others(12): Show |
a0001a0003a0006 | a0001c0004a0001c0068a0003c0014others(5): Show | a0001c0004t0002a0001c0068t0003a0003c0014t0002others(8): Show | a0001c0004t0002g0138a0001c0068t0003g0016a0003c0014t0002g0101others(12): Show | 15 | 198 | 0.0758 | 1 | c.872 others(9): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 7/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215044062 | A | AT | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01243.hp1 others(50): Show |
a0002a0003a0004others(5): Show | a0002c0007a0002c0008a0002c0013others(22): Show | a0002c0007t0002a0002c0007t0003a0002c0007t0004others(35): Show | a0002c0007t0002g0105a0002c0007t0003g0017a0002c0007t0003g0069others(50): Show | 53 | 198 | 0.2677 | 1 | c.872 others(9): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 7/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215047974 | G | GA | intron_variant | MODIFIER | HG01123.hp2 HG01255.hp2 HG01258.hp1 others(4): Show |
a0001a0007 | a0001c0002a0001c0011a0001c0016others(1): Show | a0001c0002t0022a0001c0011t0001a0001c0016t0002others(1): Show | a0001c0002t0022g0148a0001c0011t0001g0085a0001c0011t0001g0087others(4): Show | 7 | 198 | 0.0354 | 1 | c.693 others(9): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 6/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215048417 | C | CG | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01243.hp1 others(50): Show |
a0002a0003a0004others(5): Show | a0002c0007a0002c0008a0002c0013others(22): Show | a0002c0007t0002a0002c0007t0003a0002c0007t0004others(35): Show | a0002c0007t0002g0105a0002c0007t0003g0017a0002c0007t0003g0069others(50): Show | 53 | 198 | 0.2677 | 1 | c.693 others(9): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 6/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215048540 | C | CA | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01255.hp1 others(34): Show |
a0001a0002a0009others(2): Show | a0001c0001a0001c0003a0001c0006others(15): Show | a0001c0001t0012a0001c0003t0002a0001c0006t0002others(24): Show | a0001c0001t0012g0192a0001c0003t0002g0037a0001c0006t0002g0116others(34): Show | 37 | 198 | 0.1869 | 1 | c.693 others(9): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 6/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215063628 | C | CT | intron_variant | MODIFIER | HG00423.hp1 HG01070.hp1 HG01071.hp2 others(42): Show |
a0001a0007a0011others(2): Show | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0002a0001c0001t0012a0001c0001t0020others(16): Show | a0001c0001t0002g0030a0001c0001t0002g0035a0001c0001t0002g0117others(42): Show | 45 | 198 | 0.2273 | 1 | c.317 others(8): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 3/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215065297 | T | TA | intron_variant | MODIFIER | HG02055.hp2 HG02132.hp1 HG02647.hp2 others(4): Show |
a0001a0003 | a0001c0003a0001c0006a0001c0012others(4): Show | a0001c0003t0001a0001c0006t0002a0001c0012t0004others(4): Show | a0001c0003t0001g0044a0001c0006t0002g0124a0001c0012t0004g0065others(4): Show | 7 | 198 | 0.0354 | 1 | c.164 others(9): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215069225 | A | AT | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02257.hp1 others(13): Show |
a0001a0003a0006 | a0001c0015a0003c0014a0003c0020others(4): Show | a0001c0015t0007a0001c0015t0009a0003c0014t0002others(8): Show | a0001c0015t0007g0009a0001c0015t0007g0013a0001c0015t0009g0006others(13): Show | 16 | 198 | 0.0808 | 1 | c.164 others(9): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215075332 | A | AT | intron_variant | MODIFIER | HG01243.hp1 HG02451.hp2 NA19240.hp2 others(1): Show |
a0004a0008 | a0004c0018a0004c0060a0008c0028 | a0004c0018t0021a0004c0060t0006a0008c0028t0003 | a0004c0018t0021g0082a0004c0060t0006g0080a0008c0028t0003g0081others(1): Show | 4 | 198 | 0.0202 | 1 | c.164 others(10): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215082043 | C | CT | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00735.hp1 others(112): Show |
a0001a0002a0004others(12): Show | a0001c0001a0001c0002a0001c0003others(44): Show | a0001c0001t0002a0001c0001t0012a0001c0001t0013others(68): Show | a0001c0001t0002g0025a0001c0001t0002g0059a0001c0001t0002g0066others(112): Show | 115 | 198 | 0.5808 | 1 | c.164 others(10): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215085088 | C | CA | intron_variant | MODIFIER | HG00140.hp2 HG00735.hp2 HG00741.hp1 others(54): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0001c0003others(25): Show | a0001c0001t0002a0001c0001t0013a0001c0002t0001others(32): Show | a0001c0001t0002g0059a0001c0001t0002g0154a0001c0001t0013g0040others(54): Show | 57 | 198 | 0.2879 | 1 | c.164 others(10): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215095923 | C | CT | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02109.hp2 others(16): Show |
a0001a0003a0004others(1): Show | a0001c0010a0001c0022a0003c0014others(8): Show | a0001c0010t0004a0001c0022t0019a0003c0014t0002others(11): Show | a0001c0010t0004g0113a0001c0010t0004g0114a0001c0022t0019g0014others(16): Show | 19 | 198 | 0.0960 | 1 | c.163 others(10): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215097325 | C | CT | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02109.hp2 others(16): Show |
a0001a0003a0004others(1): Show | a0001c0010a0001c0022a0003c0014others(8): Show | a0001c0010t0004a0001c0022t0019a0003c0014t0002others(11): Show | a0001c0010t0004g0113a0001c0010t0004g0114a0001c0022t0019g0014others(16): Show | 19 | 198 | 0.0960 | 1 | c.163 others(10): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215100016 | C | CT | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02257.hp1 others(10): Show |
a0003a0004a0006 | a0003c0014a0003c0020a0003c0065others(4): Show | a0003c0014t0002a0003c0014t0006a0003c0020t0001others(6): Show | a0003c0014t0002g0101a0003c0014t0006g0098a0003c0014t0006g0102others(10): Show | 13 | 198 | 0.0657 | 1 | c.163 others(10): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215100571 | G | GT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00423.hp1 others(194): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0002a0001c0003others(64): Show | a0001c0001t0002a0001c0001t0012a0001c0001t0013others(106): Show | a0001c0001t0002g0025a0001c0001t0002g0030a0001c0001t0002g0035others(194): Show | 197 | 198 | 0.9950 | 1 | c.163 others(20): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215103263 | C | CT | intron_variant | MODIFIER | HG02622.hp1 HG02922.hp1 HG03225.hp2 others(1): Show |
a0001a0002 | a0001c0006a0001c0012a0002c0007others(1): Show | a0001c0006t0005a0001c0012t0014a0002c0007t0004others(1): Show | a0001c0006t0005g0152a0001c0012t0014g0097a0002c0007t0004g0149others(1): Show | 4 | 198 | 0.0202 | 1 | c.163 others(9): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215103267 | C | CT | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00423.hp2 others(98): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(26): Show | a0001c0001t0002a0001c0001t0012a0001c0001t0020others(42): Show | a0001c0001t0002g0030a0001c0001t0002g0059a0001c0001t0002g0066others(98): Show | 101 | 198 | 0.5101 | 1 | c.163 others(9): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215103985 | T | TA | intron_variant | MODIFIER | HG01975.hp2 HG02109.hp2 HG02280.hp1 others(8): Show |
a0001a0002 | a0001c0005a0001c0006a0001c0010others(4): Show | a0001c0005t0003a0001c0005t0005a0001c0006t0005others(6): Show | a0001c0005t0003g0077a0001c0005t0005g0075a0001c0006t0005g0152others(8): Show | 11 | 198 | 0.0556 | 1 | c.163 others(9): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215106748 | C | CA | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00741.hp2 others(49): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(21): Show | a0001c0001t0002a0001c0001t0012a0001c0001t0020others(31): Show | a0001c0001t0002g0117a0001c0001t0002g0118a0001c0001t0002g0119others(49): Show | 52 | 198 | 0.2626 | 1 | c.163 others(9): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215112333 | A | AT | intron_variant | MODIFIER | HG01106.hp2 HG01255.hp2 HG01258.hp2 others(39): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(24): Show | a0001c0001t0002a0001c0001t0012a0001c0001t0013others(30): Show | a0001c0001t0002g0025a0001c0001t0002g0030a0001c0001t0002g0117others(39): Show | 42 | 198 | 0.2121 | 1 | c.70- others(7): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215112495 | T | TG | intron_variant | MODIFIER | HG00140.hp2 HG01070.hp2 HG01071.hp1 others(17): Show |
a0001a0002a0007others(2): Show | a0001c0002a0001c0003a0001c0004others(9): Show | a0001c0002t0022a0001c0003t0001a0001c0004t0001others(10): Show | a0001c0002t0022g0148a0001c0003t0001g0166a0001c0004t0001g0091others(17): Show | 20 | 198 | 0.1010 | 1 | c.70- others(14): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215112521 | C | CA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00423.hp1 others(118): Show |
a0001a0002a0007others(6): Show | a0001c0001a0001c0002a0001c0003others(32): Show | a0001c0001t0002a0001c0001t0012a0001c0001t0013others(52): Show | a0001c0001t0002g0030a0001c0001t0002g0035a0001c0001t0002g0059others(118): Show | 121 | 198 | 0.6111 | 1 | c.70- others(7): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215119764 | C | CA | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02257.hp1 others(13): Show |
a0001a0002a0003others(2): Show | a0001c0005a0002c0007a0003c0014others(5): Show | a0001c0005t0005a0002c0007t0002a0003c0014t0002others(7): Show | a0001c0005t0005g0109a0001c0005t0005g0110a0001c0005t0005g0111others(13): Show | 16 | 198 | 0.0808 | 1 | c.70- others(8): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215128649 | A | AT | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG02109.hp1 others(31): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0009others(20): Show | a0001c0001t0012a0001c0004t0010a0001c0009t0008others(24): Show | a0001c0001t0012g0191a0001c0001t0012g0192a0001c0004t0010g0198others(31): Show | 34 | 198 | 0.1717 | 1 | c.69+ others(8): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215130236 | A | AT | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02055.hp2 others(33): Show |
a0001a0002a0003others(3): Show | a0001c0005a0001c0010a0001c0012others(16): Show | a0001c0005t0005a0001c0010t0009a0001c0012t0014others(21): Show | a0001c0005t0005g0109a0001c0005t0005g0110a0001c0005t0005g0111others(33): Show | 36 | 198 | 0.1818 | 1 | c.69+ others(8): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215130936 | G | GT | intron_variant | MODIFIER | HG00140.hp2 HG00741.hp2 HG01123.hp2 others(53): Show |
a0001a0002a0003others(7): Show | a0001c0004a0001c0005a0001c0010others(27): Show | a0001c0004t0001a0001c0005t0003a0001c0005t0005others(35): Show | a0001c0004t0001g0091a0001c0004t0001g0092a0001c0005t0003g0077others(53): Show | 56 | 198 | 0.2828 | 1 | c.69+ others(8): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215133149 | A | AT | intron_variant | MODIFIER | HG01106.hp2 HG02615.hp2 HG03098.hp2 others(3): Show |
a0001a0003a0021 | a0001c0003a0001c0005a0001c0012others(2): Show | a0001c0003t0006a0001c0005t0001a0001c0005t0005others(3): Show | a0001c0003t0006g0048a0001c0005t0001g0125a0001c0005t0005g0167others(3): Show | 6 | 198 | 0.0303 | 1 | c.69+ others(8): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215136458 | G | GT | intron_variant | MODIFIER | HG02717.hp2 HG02895.hp1 HG02897.hp2 others(2): Show |
a0001a0002a0004others(1): Show | a0001c0025a0002c0017a0004c0061others(1): Show | a0001c0025t0015a0002c0017t0016a0004c0061t0015others(1): Show | a0001c0025t0015g0182a0002c0017t0016g0179a0002c0017t0016g0180others(2): Show | 5 | 198 | 0.0253 | 1 | c.69+ others(8): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215138559 | G | GA | 5_prime_UTR_variant | MODIFIER | HG02615.hp2 HG02717.hp2 HG02738.hp1 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0025a0002c0017others(2): Show | a0001c0002t0024a0001c0025t0015a0002c0017t0016others(2): Show | a0001c0002t0024g0178a0001c0025t0015g0182a0002c0017t0016g0179others(3): Show | 6 | 198 | 0.0303 | 1 | c.-35 others(5): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/53 | 352 | chr2 | TogoVar | |||||
ABCA12_chr2_214926542_215143626 | 215139849 | C | CA | upstream_gene_variant | MODIFIER | HG02615.hp2 HG02717.hp2 HG02895.hp1 others(2): Show |
a0001a0002a0003others(1): Show | a0001c0025a0002c0017a0003c0067others(1): Show | a0001c0025t0015a0002c0017t0016a0003c0067t0025others(1): Show | a0001c0025t0015g0182a0002c0017t0016g0179a0002c0017t0016g0180others(2): Show | 5 | 198 | 0.0253 | 1 | c.-16 others(12): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1224 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215142546 | C | CT | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00423.hp2 others(113): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0002a0001c0003others(39): Show | a0001c0001t0002a0001c0001t0020a0001c0002t0001others(57): Show | a0001c0001t0002g0025a0001c0001t0002g0030a0001c0001t0002g0035others(113): Show | 116 | 198 | 0.5859 | 1 | c.-43 others(12): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 3921 | chr2 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48166821 | C | CA | upstream_gene_variant | MODIFIER | HG00735.hp1 HG00738.hp2 HG01074.hp1 others(31): Show |
a0001a0002a0004others(19): Show | a0001c0001a0002c0002a0002c0022others(25): Show | a0001c0001t0004a0002c0002t0002a0002c0022t0004others(27): Show | a0001c0001t0004g0164a0002c0002t0002g0156a0002c0002t0002g0168others(31): Show | 34 | 178 | 0.1910 | 1 | c.-46 others(12): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 4636 | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48166998 | G | GA | upstream_gene_variant | MODIFIER | HG00741.hp1 HG01070.hp2 HG01123.hp1 others(7): Show |
a0001a0003a0040 | a0001c0001a0003c0003a0003c0004others(1): Show | a0001c0001t0001a0003c0003t0004a0003c0004t0001others(3): Show | a0001c0001t0001g0027a0003c0003t0004g0028a0003c0003t0004g0029others(7): Show | 10 | 178 | 0.0562 | 1 | c.-44 others(12): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 4459 | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48172797 | C | CA | intron_variant | MODIFIER | HG02109.hp2 HG02630.hp2 HG03139.hp2 others(3): Show |
a0001a0021a0022others(3): Show | a0001c0001a0021c0028a0022c0020others(3): Show | a0001c0001t0001a0021c0028t0003a0022c0020t0001others(3): Show | a0001c0001t0001g0004a0021c0028t0003g0005a0022c0020t0001g0007others(3): Show | 6 | 178 | 0.0337 | 1 | c.69+ others(8): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 1/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48180587 | A | AT | intron_variant | MODIFIER | HG02145.hp2 HG02895.hp2 HG02976.hp2 others(2): Show |
a0014a0028a0029others(1): Show | a0014c0019a0028c0015a0029c0014others(1): Show | a0014c0019t0002a0028c0015t0004a0029c0014t0010others(1): Show | a0014c0019t0002g0175a0028c0015t0004g0173a0028c0015t0004g0176others(2): Show | 5 | 178 | 0.0281 | 1 | c.69+ others(8): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 1/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48181557 | C | CA | intron_variant | MODIFIER | HG00558.hp2 HG01167.hp2 HG01952.hp2 others(9): Show |
a0001a0004a0006others(8): Show | a0001c0001a0004c0009a0006c0007others(9): Show | a0001c0001t0006a0004c0009t0001a0006c0007t0003others(9): Show | a0001c0001t0006g0178a0004c0009t0001g0116a0006c0007t0003g0121others(9): Show | 12 | 178 | 0.0674 | 1 | c.69+ others(18): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 1/61 | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48187268 | C | CT | intron_variant | MODIFIER | HG00544.hp1 HG00735.hp2 HG00741.hp2 others(43): Show |
a0001a0002a0005others(29): Show | a0001c0001a0002c0002a0002c0065others(35): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0004others(36): Show | a0001c0001t0001g0133a0002c0002t0001g0131a0002c0002t0004g0106others(43): Show | 46 | 178 | 0.2584 | 1 | c.70- others(8): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 1/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48191073 | A | AT | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00558.hp2 others(62): Show |
a0001a0002a0004others(39): Show | a0001c0001a0002c0002a0002c0022others(48): Show | a0001c0001t0001a0001c0001t0006a0002c0002t0001others(53): Show | a0001c0001t0001g0133a0001c0001t0006g0178a0002c0002t0001g0131others(62): Show | 65 | 178 | 0.3652 | 1 | c.70- others(8): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 1/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48192933 | A | AT | intron_variant | MODIFIER | HG00735.hp1 HG00738.hp2 HG01074.hp1 others(21): Show |
a0001a0002a0004others(14): Show | a0001c0001a0002c0002a0002c0022others(17): Show | a0001c0001t0002a0001c0001t0004a0002c0002t0002others(21): Show | a0001c0001t0002g0054a0001c0001t0004g0164a0002c0002t0002g0168others(21): Show | 24 | 178 | 0.1348 | 1 | c.70- others(6): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 1/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48194860 | A | AT | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00544.hp1 others(174): Show |
a0001a0002a0003others(84): Show | a0001c0001a0001c0010a0001c0103others(110): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(134): Show | a0001c0001t0001g0004a0001c0001t0001g0027a0001c0001t0001g0040others(174): Show | 177 | 178 | 0.9944 | 1 | c.163 others(9): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 2/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48202491 | C | CA | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00558.hp2 others(48): Show |
a0001a0002a0004others(32): Show | a0001c0001a0002c0002a0002c0022others(38): Show | a0001c0001t0001a0001c0001t0006a0002c0002t0001others(42): Show | a0001c0001t0001g0133a0001c0001t0006g0178a0002c0002t0001g0131others(48): Show | 51 | 178 | 0.2865 | 1 | c.287 others(18): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 3/61 | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48203236 | A | AC | intron_variant | MODIFIER | HG00735.hp1 HG00738.hp2 HG01074.hp1 others(22): Show |
a0001a0002a0004others(14): Show | a0001c0001a0002c0002a0002c0022others(17): Show | a0001c0001t0004a0002c0002t0002a0002c0022t0004others(20): Show | a0001c0001t0004g0164a0002c0002t0002g0156a0002c0002t0002g0168others(22): Show | 25 | 178 | 0.1405 | 1 | c.287 others(9): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 3/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48206613 | A | AC | intron_variant | MODIFIER | HG00735.hp1 HG00738.hp2 HG01074.hp1 others(22): Show |
a0001a0002a0004others(14): Show | a0001c0001a0002c0002a0002c0022others(17): Show | a0001c0001t0004a0002c0002t0002a0002c0022t0004others(20): Show | a0001c0001t0004g0164a0002c0002t0002g0156a0002c0002t0002g0168others(22): Show | 25 | 178 | 0.1405 | 1 | c.287 others(18): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 3/61 | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48217777 | C | CT | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 HG03486.hp1 |
a0024a0081 | a0024c0027a0081c0086 | a0024c0027t0001a0024c0027t0006a0081c0086t0009 | a0024c0027t0001g0161a0024c0027t0006g0162a0081c0086t0009g0160 | 3 | 178 | 0.0169 | 1 | c.288 others(9): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 3/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48223958 | C | CA | intron_variant | MODIFIER | HG00558.hp1 HG01952.hp1 HG02280.hp2 others(10): Show |
a0011a0014a0017others(9): Show | a0011c0017a0014c0047a0017c0096others(9): Show | a0011c0017t0002a0014c0047t0001a0017c0096t0001others(10): Show | a0011c0017t0002g0048a0014c0047t0001g0155a0017c0096t0001g0049others(10): Show | 13 | 178 | 0.0730 | 1 | c.468 others(9): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 5/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48227245 | A | AT | splice_region_variant others(1): Show |
LOW | HG01167.hp2 HG01975.hp1 HG02083.hp2 others(8): Show |
a0001a0008a0009others(8): Show | a0001c0001a0008c0013a0009c0107others(8): Show | a0001c0001t0006a0008c0013t0005a0009c0107t0001others(8): Show | a0001c0001t0006g0178a0008c0013t0005g0045a0009c0107t0001g0112others(8): Show | 11 | 178 | 0.0618 | 1 | c.469 others(6): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 5/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48237012 | G | GT | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00544.hp1 others(23): Show |
a0001a0002a0005others(12): Show | a0001c0001a0001c0104a0002c0002others(16): Show | a0001c0001t0001a0001c0104t0005a0002c0002t0001others(17): Show | a0001c0001t0001g0027a0001c0001t0001g0040a0001c0104t0005g0044others(23): Show | 26 | 178 | 0.1461 | 1 | c.898 others(9): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 8/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48261673 | G | GT | intron_variant | MODIFIER | NA18961.hp1 NA18986.hp1 NA19010.hp1 others(1): Show |
a0001a0037 | a0001c0001a0001c0010a0037c0100 | a0001c0001t0001a0001c0010t0001a0037c0100t0001 | a0001c0001t0001g0042a0001c0001t0001g0058a0001c0010t0001g0050others(1): Show | 4 | 178 | 0.0225 | 1 | c.200 others(10): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 15/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48268850 | C | CT | intron_variant | MODIFIER | HG00544.hp2 HG02615.hp1 HG02886.hp2 others(3): Show |
a0053a0054a0055others(3): Show | a0053c0051a0054c0048a0055c0049others(3): Show | a0053c0051t0001a0054c0048t0004a0055c0049t0001others(3): Show | a0053c0051t0001g0026a0054c0048t0004g0159a0055c0049t0001g0086others(3): Show | 6 | 178 | 0.0337 | 1 | c.200 others(9): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 15/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCA13_chr7_48166458_48652497 | 48289359 | A | AT | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp1 HG02109.hp2 others(6): Show |
a0013a0022a0045others(4): Show | a0013c0006a0022c0020a0045c0056others(4): Show | a0013c0006t0001a0022c0020t0001a0022c0020t0005others(5): Show | a0013c0006t0001g0016a0013c0006t0001g0017a0022c0020t0001g0007others(6): Show | 9 | 178 | 0.0506 | 1 | c.895 others(10): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 20/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |