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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABTB2_chr11_34145987_34363010 | 34195075 | C | CGGG | intron_variant | MODIFIER | HG00438.hp2 HG00621.hp2 HG00738.hp2 others(32): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(11): Show | a0001c0001t0001g0003a0001c0001t0001g0011a0001c0001t0001g0070others(32): Show | 35 | 246 | 0.1423 | 3 | c.124 others(22): Show |
ABTB2 | ENSG00000166016.6 | transcript | ENST00000435224.3 | protein_coding | 3/16 | chr11 | TogoVar | ||||||
ABTB2_chr11_34145987_34363010 | 34244938 | G | GTCA | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00438.hp1 others(144): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0005others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(29): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0008others(144): Show | 147 | 246 | 0.5976 | 3 | c.884 others(22): Show |
ABTB2 | ENSG00000166016.6 | transcript | ENST00000435224.3 | protein_coding | 1/16 | chr11 | TogoVar | ||||||
ABTB2_chr11_34145987_34363010 | 34246601 | C | CAAA | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00609.hp2 others(69): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0008others(69): Show | 72 | 246 | 0.2927 | 3 | c.884 others(22): Show |
ABTB2 | ENSG00000166016.6 | transcript | ENST00000435224.3 | protein_coding | 1/16 | chr11 | TogoVar | ||||||
ABTB2_chr11_34145987_34363010 | 34248088 | A | ATTT | intron_variant | MODIFIER | HG00099.hp2 HG01175.hp2 HG01192.hp1 others(17): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0001c0012others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0016others(4): Show | a0001c0001t0001g0012a0001c0001t0001g0029a0001c0001t0001g0056others(17): Show | 20 | 246 | 0.0813 | 3 | c.884 others(22): Show |
ABTB2 | ENSG00000166016.6 | transcript | ENST00000435224.3 | protein_coding | 1/16 | chr11 | TogoVar | ||||||
ABTB2_chr11_34145987_34363010 | 34265661 | G | GAAA | intron_variant | MODIFIER | HG01074.hp2 HG01433.hp1 HG01891.hp1 others(2): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0004t0001others(2): Show | a0001c0001t0001g0090a0001c0001t0003g0178a0001c0004t0001g0148others(2): Show | 5 | 246 | 0.0203 | 3 | c.884 others(22): Show |
ABTB2 | ENSG00000166016.6 | transcript | ENST00000435224.3 | protein_coding | 1/16 | chr11 | TogoVar | ||||||
ABTB2_chr11_34145987_34363010 | 34272728 | A | AAAC | intron_variant | MODIFIER | HG00733.hp1 HG01071.hp1 HG01106.hp1 others(16): Show |
a0001a0002a0003 | a0001c0001a0001c0012a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0016others(4): Show | a0001c0001t0001g0003a0001c0001t0001g0035a0001c0001t0001g0077others(16): Show | 19 | 246 | 0.0772 | 3 | c.884 others(22): Show |
ABTB2 | ENSG00000166016.6 | transcript | ENST00000435224.3 | protein_coding | 1/16 | chr11 | TogoVar | ||||||
ABTB2_chr11_34145987_34363010 | 34306236 | A | ATTT | intron_variant | MODIFIER | HG00609.hp2 HG02145.hp1 HG02145.hp2 others(10): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0007a0001c0004t0001others(4): Show | a0001c0001t0001g0053a0001c0001t0001g0056a0001c0001t0001g0087others(10): Show | 13 | 246 | 0.0529 | 3 | c.883 others(22): Show |
ABTB2 | ENSG00000166016.6 | transcript | ENST00000435224.3 | protein_coding | 1/16 | chr11 | TogoVar | ||||||
ABTB2_chr11_34145987_34363010 | 34317761 | C | CAAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00438.hp1 others(102): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(19): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0010others(102): Show | 105 | 246 | 0.4268 | 3 | c.883 others(22): Show |
ABTB2 | ENSG00000166016.6 | transcript | ENST00000435224.3 | protein_coding | 1/16 | chr11 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107360930 | A | ATTT | intron_variant | MODIFIER | HG01074.hp2 HG01081.hp2 HG01099.hp1 others(22): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0011a0001c0012others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0001a0001c0001t0001g0013a0001c0001t0001g0014others(22): Show | 25 | 186 | 0.1344 | 3 | c.113 others(24): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ABTB3_chr12_107313434_107664642 | 107375422 | A | AATC | intron_variant | MODIFIER | HG00609.hp2 HG00621.hp2 HG01081.hp1 others(28): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0011others(11): Show | a0001c0001t0001a0001c0001t0004a0001c0003t0002others(21): Show | a0001c0001t0001g0011a0001c0001t0001g0026a0001c0001t0001g0058others(28): Show | 31 | 186 | 0.1667 | 3 | c.113 others(24): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ABTB3_chr12_107313434_107664642 | 107387948 | T | TCTC | intron_variant | MODIFIER | HG02698.hp1 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0008a0001c0001t0002g0042 | 2 | 186 | 0.0108 | 3 | c.113 others(24): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ABTB3_chr12_107313434_107664642 | 107387952 | C | CTCT | intron_variant | MODIFIER | HG01109.hp2 HG02486.hp2 HG02630.hp1 |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0002a0002c0002t0001 | a0001c0001t0001g0055a0001c0003t0002g0095a0002c0002t0001g0120 | 3 | 186 | 0.0161 | 3 | c.113 others(24): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ABTB3_chr12_107313434_107664642 | 107401914 | G | GTTT | intron_variant | MODIFIER | HG01109.hp2 HG02074.hp2 HG02630.hp1 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(3): Show | a0001c0001t0001g0004a0001c0001t0001g0055a0001c0001t0002g0093others(4): Show | 7 | 186 | 0.0376 | 3 | c.113 others(24): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ABTB3_chr12_107313434_107664642 | 107404178 | A | AAAG | intron_variant | MODIFIER | HG02559.hp1 HG02622.hp2 HG02647.hp2 others(3): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0004others(2): Show | a0001c0001t0002a0002c0002t0036a0003c0004t0011others(2): Show | a0001c0001t0002g0152a0002c0002t0036g0170a0003c0004t0011g0155others(3): Show | 6 | 186 | 0.0323 | 3 | c.113 others(24): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ABTB3_chr12_107313434_107664642 | 107410226 | T | TAAA | intron_variant | MODIFIER | HG00423.hp2 HG00609.hp2 HG00621.hp2 others(37): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0011others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(27): Show | a0001c0001t0001g0011a0001c0001t0001g0026a0001c0001t0001g0058others(37): Show | 40 | 186 | 0.2151 | 3 | c.113 others(24): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ABTB3_chr12_107313434_107664642 | 107441774 | C | CAAA | intron_variant | MODIFIER | HG02451.hp1 HG02559.hp1 HG02717.hp2 others(2): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0018a0004c0005others(1): Show | a0001c0001t0002a0002c0018t0020a0004c0005t0008others(1): Show | a0001c0001t0002g0096a0001c0001t0002g0152a0002c0018t0020g0168others(2): Show | 5 | 186 | 0.0269 | 3 | c.113 others(24): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ABTB3_chr12_107313434_107664642 | 107519331 | C | CTTT | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00621.hp1 others(39): Show |
a0003a0005a0007others(4): Show | a0003c0004a0003c0006a0003c0008others(10): Show | a0003c0004t0001a0003c0004t0002a0003c0004t0003others(23): Show | a0003c0004t0001g0024a0003c0004t0001g0040a0003c0004t0002g0076others(39): Show | 42 | 186 | 0.2258 | 3 | c.113 others(22): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ABTB3_chr12_107313434_107664642 | 107608944 | A | AAAT | intron_variant | MODIFIER | HG02055.hp1 HG02630.hp2 HG02976.hp2 |
a0004 | a0004c0005 | a0004c0005t0009a0004c0005t0013 | a0004c0005t0009g0080a0004c0005t0009g0094a0004c0005t0013g0163 | 3 | 186 | 0.0161 | 3 | c.164 others(22): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ABTB3_chr12_107313434_107664642 | 107643402 | C | CAAA | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG01109.hp2 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0005others(9): Show | a0001c0001t0002g0082a0001c0001t0002g0106a0001c0001t0003g0015others(10): Show | 13 | 186 | 0.0699 | 3 | c.292 others(22): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ABTB3_chr12_107313434_107664642 | 107643770 | T | TTTG | intron_variant | MODIFIER | HG00140.hp1 HG01361.hp2 HG01884.hp2 others(18): Show |
a0001a0002a0004others(5): Show | a0001c0011a0002c0015a0002c0033others(6): Show | a0001c0011t0031a0002c0015t0001a0002c0015t0007others(12): Show | a0001c0011t0031g0075a0002c0015t0001g0043a0002c0015t0007g0166others(18): Show | 21 | 186 | 0.1129 | 3 | c.292 others(22): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 14/16 | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107656298 | C | CAAA | intron_variant | MODIFIER | HG01884.hp2 HG02486.hp1 HG02965.hp2 others(2): Show |
a0001a0007a0015 | a0001c0011a0007c0010a0015c0022 | a0001c0011t0031a0007c0010t0003a0007c0010t0005others(1): Show | a0001c0011t0031g0075a0007c0010t0003g0162a0007c0010t0005g0090others(2): Show | 5 | 186 | 0.0269 | 3 | c.310 others(22): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACAA1_chr3_38117715_38142127 | 38121025 | C | CAGA | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00558.hp1 HG01109.hp2 others(27): Show |
a0001a0010 | a0001c0001a0001c0008a0010c0019 | a0001c0001t0001a0001c0008t0001a0010c0019t0001 | a0001c0001t0001g0009a0001c0001t0001g0012a0001c0001t0001g0018others(8): Show | 30 | 372 | 0.0807 | 3 | c.*20 others(14): Show |
ACAA1 | ENSG00000060971.19 | transcript | ENST00000333167.13 | protein_coding | 1689 | chr3 | TogoVar | ||||||
ACAA2_chr18_49777164_49818533 | 49782547 | C | CAAA | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(55): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0005a0001c0001t0008a0001c0001t0017others(5): Show | a0001c0001t0005g0023a0001c0001t0005g0025a0001c0001t0005g0044others(50): Show | 58 | 434 | 0.1336 | 3 | c.*12 others(14): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 10/10 | 1299 | chr18 | TogoVar | |||||
ACAA2_chr18_49777164_49818533 | 49802560 | C | CAAA | intron_variant | MODIFIER | HG00735.hp2 HG01192.hp2 HG01943.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0033 | a0001c0001t0003g0258a0001c0001t0003g0274a0001c0001t0003g0275others(5): Show | 8 | 434 | 0.0184 | 3 | c.183 others(18): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 2/9 | chr18 | TogoVar | ||||||
ACAA2_chr18_49777164_49818533 | 49803239 | A | AAAT | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00597.hp2 others(46): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0008a0001c0001t0001g0030a0001c0001t0001g0141others(42): Show | 49 | 434 | 0.1129 | 3 | c.17- others(16): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 1/9 | chr18 | TogoVar | ||||||
ACAA2_chr18_49777164_49818533 | 49803280 | A | ATAT | intron_variant | MODIFIER | HG00639.hp1 HG02698.hp2 HG03490.hp2 others(4): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0010a0003c0004t0010 | a0001c0001t0010g0010a0001c0001t0010g0208a0003c0004t0010g0204others(1): Show | 7 | 434 | 0.0161 | 3 | c.17- others(16): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 1/9 | chr18 | TogoVar | ||||||
ACAA2_chr18_49777164_49818533 | 49815208 | C | CAAA | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00597.hp1 others(84): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(10): Show | a0001c0001t0001g0094a0001c0001t0002g0001a0001c0001t0002g0004others(58): Show | 87 | 434 | 0.2005 | 3 | c.-17 others(14): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 1676 | chr18 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37080074 | C | CAAA | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00438.hp2 others(87): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0053a0001c0001t0001g0059a0001c0001t0001g0076others(87): Show | 90 | 299 | 0.3010 | 3 | c.*72 others(14): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 4917 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37104944 | G | GAAA | intron_variant | MODIFIER | HG00438.hp2 HG01361.hp2 HG02293.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0016others(1): Show | a0001c0001t0001g0200a0001c0001t0001g0201a0001c0001t0001g0205others(6): Show | 9 | 299 | 0.0301 | 3 | c.656 others(22): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 52/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37128023 | T | TAAA | intron_variant | MODIFIER | HG00609.hp1 HG01109.hp2 HG01433.hp1 others(11): Show |
a0001 | a0001c0002a0001c0003a0001c0012 | a0001c0002t0001a0001c0003t0001a0001c0003t0002others(1): Show | a0001c0002t0001g0186a0001c0002t0001g0253a0001c0002t0001g0254others(11): Show | 14 | 299 | 0.0468 | 3 | c.594 others(22): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 47/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37157531 | C | CTTT | intron_variant | MODIFIER | HG01891.hp1 HG02258.hp2 HG03041.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0012a0001c0001t0016others(1): Show | a0001c0001t0003g0051a0001c0001t0003g0052a0001c0001t0003g0091others(5): Show | 8 | 299 | 0.0268 | 3 | c.535 others(22): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 42/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37163196 | T | TAAA | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02572.hp1 others(4): Show |
a0001 | a0001c0002a0001c0003a0001c0015 | a0001c0002t0001a0001c0002t0008a0001c0003t0001others(1): Show | a0001c0002t0001g0133a0001c0002t0001g0269a0001c0002t0008g0042others(4): Show | 7 | 299 | 0.0234 | 3 | c.508 others(22): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 41/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37167119 | A | ATTT | intron_variant | MODIFIER | HG01515.hp1 HG01517.hp2 HG01884.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(5): Show | a0001c0001t0001g0180a0001c0002t0001g0133a0001c0002t0001g0240others(10): Show | 13 | 299 | 0.0435 | 3 | c.508 others(22): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 41/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37174021 | T | TATA | intron_variant | MODIFIER | HG00733.hp2 HG00735.hp2 HG01109.hp2 others(1): Show |
a0001 | a0001c0002a0001c0011 | a0001c0002t0001a0001c0002t0002a0001c0011t0020 | a0001c0002t0001g0186a0001c0002t0002g0004a0001c0002t0002g0027others(1): Show | 4 | 299 | 0.0134 | 3 | c.507 others(22): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 41/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37181900 | C | CAAA | intron_variant | MODIFIER | HG01891.hp2 HG02109.hp2 HG02280.hp2 others(15): Show |
a0001a0003 | a0001c0001a0001c0004a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0047a0001c0001t0001g0194a0001c0001t0001g0208others(15): Show | 18 | 299 | 0.0602 | 3 | c.477 others(20): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 39/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37183848 | C | CTTT | intron_variant | MODIFIER | HG02145.hp2 HG02280.hp2 HG02809.hp2 others(3): Show |
a0001 | a0001c0001a0001c0004a0001c0006 | a0001c0001t0003a0001c0004t0005a0001c0004t0021others(1): Show | a0001c0001t0003g0112a0001c0001t0003g0123a0001c0004t0005g0190others(3): Show | 6 | 299 | 0.0201 | 3 | c.477 others(22): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 39/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37185402 | C | CTTT | intron_variant | MODIFIER | HG02647.hp1 HG02818.hp2 HG02970.hp2 others(7): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0008 | a0001c0001t0001a0001c0001t0003a0001c0001t0028others(3): Show | a0001c0001t0001g0046a0001c0001t0001g0047a0001c0001t0001g0187others(7): Show | 10 | 299 | 0.0334 | 3 | c.477 others(22): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 39/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37200378 | T | TAGC | intron_variant | MODIFIER | HG01891.hp1 HG02622.hp1 HG03041.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0018 | a0001c0001t0003g0051a0001c0001t0003g0052a0001c0001t0003g0081others(3): Show | 6 | 299 | 0.0201 | 3 | c.411 others(18): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 34/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37210751 | C | CAAA | intron_variant | MODIFIER | HG03491.hp2 HG03492.hp2 NA18966.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0003a0001c0002t0001a0001c0007t0003 | a0001c0001t0003g0112a0001c0001t0003g0116a0001c0001t0003g0121others(9): Show | 12 | 299 | 0.0401 | 3 | c.368 others(20): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 29/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37232864 | A | ATCC | intron_variant | MODIFIER | HG02451.hp1 HG03579.hp1 NA19240.hp1 |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0011a0003c0008t0003 | a0001c0001t0011g0094a0001c0001t0011g0105a0003c0008t0003g0248 | 3 | 299 | 0.0100 | 3 | c.324 others(22): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 25/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37248681 | G | GAAC | splice_region_variant others(1): Show |
LOW | HG01884.hp2 HG02055.hp2 HG02572.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0008 | a0001c0002t0001g0133a0001c0002t0001g0269a0001c0002t0008g0039others(2): Show | 5 | 299 | 0.0167 | 3 | c.208 others(17): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 16/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37287590 | A | AAAC | intron_variant | MODIFIER | HG03225.hp2 HG03491.hp2 HG03492.hp2 others(8): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0003a0001c0007t0003 | a0001c0001t0001g0139a0001c0001t0001g0202a0001c0001t0003g0121others(8): Show | 11 | 299 | 0.0368 | 3 | c.339 others(20): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 3/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37325579 | C | CTTT | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00735.hp1 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0047a0001c0001t0001g0059a0001c0001t0001g0076others(33): Show | 36 | 299 | 0.1204 | 3 | c.338 others(20): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 3/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37342434 | A | ATAT | intron_variant | MODIFIER | HG01433.hp1 HG02155.hp2 HG02486.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0001 | a0001c0001t0003g0045a0001c0003t0001g0054a0001c0003t0001g0061others(3): Show | 6 | 299 | 0.0201 | 3 | c.39- others(18): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37342436 | A | AAAT | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp1 HG02080.hp2 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0013 | a0001c0003t0001g0060a0001c0003t0001g0065a0001c0003t0001g0069others(4): Show | 7 | 299 | 0.0234 | 3 | c.39- others(18): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37342436 | A | ATAT | intron_variant | MODIFIER | HG00544.hp2 HG00621.hp2 HG01167.hp1 others(16): Show |
a0001 | a0001c0003a0001c0012 | a0001c0003t0001a0001c0003t0002a0001c0003t0006others(4): Show | a0001c0003t0001g0056a0001c0003t0001g0068a0001c0003t0001g0070others(16): Show | 19 | 299 | 0.0636 | 3 | c.39- others(18): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37352037 | T | TCTC | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp2 HG01099.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0160a0001c0001t0004g0161a0001c0001t0004g0162others(4): Show | 7 | 299 | 0.0234 | 3 | c.39- others(20): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37353637 | T | TAAA | intron_variant | MODIFIER | HG00609.hp1 HG01981.hp2 HG02083.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0003g0116a0001c0002t0001g0280a0001c0002t0002g0037others(4): Show | 7 | 299 | 0.0234 | 3 | c.39- others(20): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37390251 | T | TATA | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(58): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0015a0001c0001t0028others(11): Show | a0001c0001t0001g0187a0001c0001t0001g0193a0001c0001t0001g0197others(58): Show | 61 | 299 | 0.2040 | 3 | c.38+ others(20): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37390271 | A | AATT | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp2 others(106): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(20): Show | a0001c0001t0001g0185a0001c0001t0001g0187a0001c0001t0001g0193others(106): Show | 109 | 299 | 0.3646 | 3 | c.38+ others(20): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar |