view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SMYD1_chr2_88062825_88118384 | 88065280 | C | CT | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(174): Show |
a0001a0002a0006others(3): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(36): Show | a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0009 others(163): Show |
177 | 338 | 0.5237 | 1 | c.-25 others(12): Show |
SMYD1 | ENSG00000115593.15 | transcript | ENST00000419482.7 | protein_coding | 2544 | chr2 | TogoVar | |||||||
SMYD1_chr2_88062825_88118384 | 88065593 | C | CT | upstream_gene_variant | MODIFIER | HG01243.hp2 HG01891.hp1 HG02109.hp2 others(29): Show |
a0001a0002a0004 | a0001c0003a0001c0004a0001c0008others(5): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0004others(10): Show | a0001c0003t0001g0268 a0001c0003t0001g0275 a0001c0003t0001g0282 others(26): Show |
32 | 338 | 0.0947 | 1 | c.-22 others(12): Show |
SMYD1 | ENSG00000115593.15 | transcript | ENST00000419482.7 | protein_coding | 2231 | chr2 | TogoVar | |||||||
SMYD1_chr2_88062825_88118384 | 88067991 | G | GT | frameshift_variant others(1): Show |
HIGH | NA19063.hp2 | a0011 | a0011c0029 | a0011c0029t0001 | a0011c0029t0001g0192 | 1 | 338 | 0.0030 | 1 | c.132 others(4): Show |
p.Asp others(4): Show |
SMYD1 | ENSG00000115593.15 | transcript | ENST00000419482.7 | protein_coding | 1/10 | 173/4385 | 133/1473 | 45/490 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
SMYD1_chr2_88062825_88118384 | 88068610 | G | GT | intron_variant | MODIFIER | HG01358.hp1 HG02055.hp2 HG02615.hp2 others(1): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0004a0001c0004t0001 | a0001c0003t0004g0304 a0001c0003t0004g0305 a0001c0003t0004g0307 others(1): Show |
4 | 338 | 0.0118 | 1 | c.137 others(16): Show |
SMYD1 | ENSG00000115593.15 | transcript | ENST00000419482.7 | protein_coding | 1/9 | chr2 | TogoVar | |||||||
SMYD1_chr2_88062825_88118384 | 88068611 | G | GT | intron_variant | MODIFIER | HG01175.hp2 HG01243.hp2 HG01891.hp1 others(54): Show |
a0001a0002a0004others(2): Show | a0001c0002a0001c0003a0001c0004others(10): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0002others(18): Show | a0001c0002t0001g0251 a0001c0003t0001g0268 a0001c0003t0001g0275 others(48): Show |
57 | 338 | 0.1686 | 1 | c.137 others(8): Show |
SMYD1 | ENSG00000115593.15 | transcript | ENST00000419482.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SMYD1_chr2_88062825_88118384 | 88070942 | C | CA | intron_variant | MODIFIER | HG00642.hp1 HG00738.hp2 HG01123.hp1 others(35): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(17): Show | a0001c0001t0002g0082 a0001c0001t0002g0087 a0001c0001t0002g0088 others(34): Show |
38 | 338 | 0.1124 | 1 | c.137 others(9): Show |
SMYD1 | ENSG00000115593.15 | transcript | ENST00000419482.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SMYD1_chr2_88062825_88118384 | 88077011 | C | CA | intron_variant | MODIFIER | HG00423.hp2 HG01256.hp1 HG02109.hp1 others(27): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(12): Show | a0001c0001t0001g0298 a0001c0001t0002g0241 a0001c0003t0001g0218 others(26): Show |
30 | 338 | 0.0888 | 1 | c.138 others(9): Show |
SMYD1 | ENSG00000115593.15 | transcript | ENST00000419482.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SMYD1_chr2_88062825_88118384 | 88077722 | C | CT | intron_variant | MODIFIER | HG00408.hp2 HG00639.hp2 HG01175.hp1 others(36): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0002g0113 a0001c0001t0002g0152 a0001c0001t0002g0153 others(33): Show |
39 | 338 | 0.1154 | 1 | c.138 others(9): Show |
SMYD1 | ENSG00000115593.15 | transcript | ENST00000419482.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SMYD1_chr2_88062825_88118384 | 88080906 | A | AT | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00423.hp1 others(192): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0298 a0001c0001t0002g0002 a0001c0001t0002g0004 others(177): Show |
195 | 338 | 0.5769 | 1 | c.138 others(9): Show |
SMYD1 | ENSG00000115593.15 | transcript | ENST00000419482.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SMYD1_chr2_88062825_88118384 | 88081440 | C | CT | intron_variant | MODIFIER | HG00423.hp2 HG02145.hp2 HG02280.hp1 others(14): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0006others(2): Show | a0001c0001t0002a0001c0004t0001a0001c0004t0011others(4): Show | a0001c0001t0002g0241 a0001c0004t0001g0292 a0001c0004t0011g0250 others(14): Show |
17 | 338 | 0.0503 | 1 | c.138 others(9): Show |
SMYD1 | ENSG00000115593.15 | transcript | ENST00000419482.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SMYD1_chr2_88062825_88118384 | 88084738 | T | TC | intron_variant | MODIFIER | HG00642.hp2 HG01099.hp1 HG02683.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 others(2): Show |
5 | 338 | 0.0148 | 1 | c.314 others(8): Show |
SMYD1 | ENSG00000115593.15 | transcript | ENST00000419482.7 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SMYD1_chr2_88062825_88118384 | 88086833 | C | CT | intron_variant | MODIFIER | HG00423.hp2 HG02280.hp1 HG02451.hp2 others(11): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0006others(1): Show | a0001c0001t0002a0001c0004t0001a0002c0006t0001others(2): Show | a0001c0001t0002g0241 a0001c0004t0001g0246 a0001c0004t0001g0292 others(11): Show |
14 | 338 | 0.0414 | 1 | c.315 others(9): Show |
SMYD1 | ENSG00000115593.15 | transcript | ENST00000419482.7 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SMYD1_chr2_88062825_88118384 | 88087079 | C | CA | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(35): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0003a0001c0003t0002a0001c0003t0003others(14): Show | a0001c0001t0003g0179 a0001c0003t0002g0069 a0001c0003t0002g0074 others(33): Show |
38 | 338 | 0.1124 | 1 | c.315 others(8): Show |
SMYD1 | ENSG00000115593.15 | transcript | ENST00000419482.7 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SMYD1_chr2_88062825_88118384 | 88089584 | T | TC | intron_variant | MODIFIER | HG00423.hp2 HG01099.hp2 HG01169.hp1 others(21): Show |
a0001a0002a0003others(1): Show | a0001c0003a0001c0008a0001c0009others(4): Show | a0001c0003t0003a0001c0008t0018a0001c0009t0001others(4): Show | a0001c0003t0003g0073 a0001c0008t0018g0165 a0001c0009t0001g0005 others(20): Show |
24 | 338 | 0.0710 | 1 | c.529 others(18): Show |
SMYD1 | ENSG00000115593.15 | transcript | ENST00000419482.7 | protein_coding | 3/9 | chr2 | TogoVar | |||||||
SMYD1_chr2_88062825_88118384 | 88089585 | G | GT | intron_variant | MODIFIER | HG00558.hp1 HG01099.hp1 HG01243.hp1 others(20): Show |
a0001a0002a0013 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0002g0134 a0001c0001t0002g0139 a0001c0001t0002g0140 others(19): Show |
23 | 338 | 0.0681 | 1 | c.529 others(9): Show |
SMYD1 | ENSG00000115593.15 | transcript | ENST00000419482.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SMYD1_chr2_88062825_88118384 | 88089760 | C | CT | intron_variant | MODIFIER | HG00408.hp2 HG00639.hp2 HG01928.hp1 others(21): Show |
a0001a0013 | a0001c0007a0001c0009a0001c0013others(2): Show | a0001c0007t0002a0001c0007t0005a0001c0009t0007others(5): Show | a0001c0007t0002g0018 a0001c0007t0002g0224 a0001c0007t0002g0233 others(18): Show |
24 | 338 | 0.0710 | 1 | c.529 others(9): Show |
SMYD1 | ENSG00000115593.15 | transcript | ENST00000419482.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SMYD1_chr2_88062825_88118384 | 88093538 | G | GT | frameshift_variant | HIGH | NA18997.hp2 | a0009 | a0009c0022 | a0009c0022t0008 | a0009c0022t0008g0195 | 1 | 338 | 0.0030 | 1 | c.684 others(4): Show |
p.His others(5): Show |
SMYD1 | ENSG00000115593.15 | transcript | ENST00000419482.7 | protein_coding | 5/10 | 725/4385 | 685/1473 | 229/490 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
SMYD1_chr2_88062825_88118384 | 88102368 | G | GT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(153): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(39): Show | a0001c0001t0001g0298 a0001c0001t0003g0102 a0001c0001t0003g0179 others(140): Show |
156 | 338 | 0.4615 | 1 | c.889 others(8): Show |
SMYD1 | ENSG00000115593.15 | transcript | ENST00000419482.7 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SMYD1_chr2_88062825_88118384 | 88103642 | C | CA | intron_variant | MODIFIER | HG02280.hp2 HG02572.hp1 HG02647.hp1 others(3): Show |
a0001a0013 | a0001c0014a0013c0017 | a0001c0014t0006a0013c0017t0006 | a0001c0014t0006g0027 a0001c0014t0006g0289 a0001c0014t0006g0290 others(2): Show |
6 | 338 | 0.0178 | 1 | c.981 others(8): Show |
SMYD1 | ENSG00000115593.15 | transcript | ENST00000419482.7 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SMYD1_chr2_88062825_88118384 | 88107388 | T | TG | intron_variant | MODIFIER | HG02109.hp1 HG02145.hp1 HG02486.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0298 a0001c0003t0001g0164 a0001c0003t0001g0218 others(6): Show |
9 | 338 | 0.0266 | 1 | c.114 others(9): Show |
SMYD1 | ENSG00000115593.15 | transcript | ENST00000419482.7 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SMYD1_chr2_88062825_88118384 | 88112300 | C | CT | 3_prime_UTR_variant | MODIFIER | HG02280.hp2 HG02572.hp1 HG02647.hp1 others(5): Show |
a0001a0013 | a0001c0004a0001c0014a0013c0017 | a0001c0004t0010a0001c0014t0006a0013c0017t0006 | a0001c0004t0010g0038 a0001c0004t0010g0278 a0001c0014t0006g0027 others(4): Show |
8 | 338 | 0.0237 | 1 | c.*17 others(6): Show |
SMYD1 | ENSG00000115593.15 | transcript | ENST00000419482.7 | protein_coding | 10/10 | 1796 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SMYD1_chr2_88062825_88118384 | 88116853 | A | AG | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(234): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(52): Show | a0001c0001t0001g0298 a0001c0001t0002g0002 a0001c0001t0002g0009 others(219): Show |
237 | 338 | 0.7012 | 1 | c.*63 others(12): Show |
SMYD1 | ENSG00000115593.15 | transcript | ENST00000419482.7 | protein_coding | 3470 | chr2 | TogoVar | |||||||
SMYD2_chr1_214276159_214342131 | 214277545 | T | TA | upstream_gene_variant | MODIFIER | HG00642.hp2 HG01109.hp2 HG01884.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0033 others(2): Show |
5 | 380 | 0.0132 | 1 | c.-37 others(12): Show |
SMYD2 | ENSG00000143499.14 | transcript | ENST00000366957.10 | protein_coding | 3613 | chr1 | TogoVar | |||||||
SMYD2_chr1_214276159_214342131 | 214277546 | A | AG | upstream_gene_variant | MODIFIER | HG02257.hp2 HG02451.hp1 HG02559.hp2 others(5): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0003 | a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 others(5): Show |
8 | 380 | 0.0211 | 1 | c.-37 others(12): Show |
SMYD2 | ENSG00000143499.14 | transcript | ENST00000366957.10 | protein_coding | 3612 | chr1 | TogoVar | |||||||
SMYD2_chr1_214276159_214342131 | 214279322 | A | AT | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00733.hp2 HG01069.hp1 others(87): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0009 others(84): Show |
90 | 380 | 0.2368 | 1 | c.-19 others(12): Show |
SMYD2 | ENSG00000143499.14 | transcript | ENST00000366957.10 | protein_coding | 1836 | chr1 | TogoVar | |||||||
SMYD2_chr1_214276159_214342131 | 214281396 | C | CG | frameshift_variant | HIGH | HG01175.hp1 | a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0257 | 1 | 380 | 0.0026 | 1 | c.146 others(4): Show |
p.Asn others(4): Show |
SMYD2 | ENSG00000143499.14 | transcript | ENST00000366957.10 | protein_coding | 1/12 | 243/1745 | 147/1302 | 49/433 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
SMYD2_chr1_214276159_214342131 | 214281549 | T | TG | intron_variant | MODIFIER | HG01074.hp2 HG01168.hp2 HG01261.hp2 others(17): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 others(17): Show |
20 | 380 | 0.0526 | 1 | c.173 others(8): Show |
SMYD2 | ENSG00000143499.14 | transcript | ENST00000366957.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SMYD2_chr1_214276159_214342131 | 214284254 | G | GT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(129): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(7): Show | a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0141 others(122): Show |
132 | 380 | 0.3474 | 1 | c.173 others(9): Show |
SMYD2 | ENSG00000143499.14 | transcript | ENST00000366957.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SMYD2_chr1_214276159_214342131 | 214286749 | C | CA | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00639.hp2 others(59): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0027 a0001c0001t0001g0039 a0001c0001t0001g0224 others(52): Show |
62 | 380 | 0.1632 | 1 | c.173 others(9): Show |
SMYD2 | ENSG00000143499.14 | transcript | ENST00000366957.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SMYD2_chr1_214276159_214342131 | 214286856 | C | CT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(221): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0011 a0001c0001t0001g0026 a0001c0001t0001g0030 others(196): Show |
224 | 380 | 0.5895 | 1 | c.173 others(9): Show |
SMYD2 | ENSG00000143499.14 | transcript | ENST00000366957.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SMYD2_chr1_214276159_214342131 | 214287586 | C | CA | intron_variant | MODIFIER | HG00733.hp1 HG01123.hp1 HG01243.hp1 others(31): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0015 a0001c0001t0001g0039 a0001c0001t0001g0206 others(30): Show |
34 | 380 | 0.0895 | 1 | c.173 others(9): Show |
SMYD2 | ENSG00000143499.14 | transcript | ENST00000366957.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SMYD2_chr1_214276159_214342131 | 214288938 | C | CT | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00423.hp2 others(73): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(2): Show | a0001c0001t0001g0027 a0001c0001t0001g0072 a0001c0001t0001g0293 others(55): Show |
76 | 380 | 0.2000 | 1 | c.173 others(9): Show |
SMYD2 | ENSG00000143499.14 | transcript | ENST00000366957.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SMYD2_chr1_214276159_214342131 | 214288954 | T | TC | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00621.hp1 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0297 a0001c0001t0001g0311 a0001c0001t0001g0316 others(30): Show |
38 | 380 | 0.1000 | 1 | c.173 others(9): Show |
SMYD2 | ENSG00000143499.14 | transcript | ENST00000366957.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SMYD2_chr1_214276159_214342131 | 214295152 | T | TA | intron_variant | MODIFIER | HG00738.hp2 HG01069.hp2 HG01346.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0225 a0001c0001t0001g0241 a0001c0001t0001g0242 others(4): Show |
7 | 380 | 0.0184 | 1 | c.174 others(10): Show |
SMYD2 | ENSG00000143499.14 | transcript | ENST00000366957.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SMYD2_chr1_214276159_214342131 | 214295397 | A | AT | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp2 others(164): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(154): Show |
167 | 380 | 0.4395 | 1 | c.174 others(9): Show |
SMYD2 | ENSG00000143499.14 | transcript | ENST00000366957.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SMYD2_chr1_214276159_214342131 | 214297314 | G | GT | intron_variant | MODIFIER | HG00642.hp2 HG02040.hp2 HG02056.hp1 others(8): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0003a0003c0003t0001 | a0001c0001t0001g0027 a0001c0001t0001g0227 a0001c0001t0001g0230 others(8): Show |
11 | 380 | 0.0290 | 1 | c.174 others(9): Show |
SMYD2 | ENSG00000143499.14 | transcript | ENST00000366957.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SMYD2_chr1_214276159_214342131 | 214302338 | C | CA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(223): Show |
a0001a0004a0006others(1): Show | a0001c0001a0004c0004a0006c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0015 a0001c0001t0001g0026 a0001c0001t0001g0027 others(210): Show |
226 | 380 | 0.5947 | 1 | c.174 others(9): Show |
SMYD2 | ENSG00000143499.14 | transcript | ENST00000366957.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SMYD2_chr1_214276159_214342131 | 214303795 | G | GC | intron_variant | MODIFIER | HG01261.hp2 HG02080.hp2 HG03927.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0225 a0001c0001t0001g0283 a0001c0001t0001g0325 others(2): Show |
5 | 380 | 0.0132 | 1 | c.174 others(9): Show |
SMYD2 | ENSG00000143499.14 | transcript | ENST00000366957.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SMYD2_chr1_214276159_214342131 | 214304558 | C | CA | intron_variant | MODIFIER | HG01261.hp2 HG02738.hp1 HG04204.hp1 others(4): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0001 | a0001c0001t0001g0325 a0002c0002t0001g0114 a0002c0002t0001g0116 others(4): Show |
7 | 380 | 0.0184 | 1 | c.174 others(8): Show |
SMYD2 | ENSG00000143499.14 | transcript | ENST00000366957.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SMYD2_chr1_214276159_214342131 | 214309348 | C | CA | intron_variant | MODIFIER | HG00099.hp2 HG00741.hp1 HG01069.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0046 a0001c0001t0001g0047 others(4): Show |
8 | 380 | 0.0211 | 1 | c.237 others(9): Show |
SMYD2 | ENSG00000143499.14 | transcript | ENST00000366957.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SMYD2_chr1_214276159_214342131 | 214309554 | A | AT | intron_variant | MODIFIER | HG02647.hp2 HG02886.hp1 HG02896.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 others(2): Show |
5 | 380 | 0.0132 | 1 | c.237 others(9): Show |
SMYD2 | ENSG00000143499.14 | transcript | ENST00000366957.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SMYD2_chr1_214276159_214342131 | 214310503 | A | AT | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00621.hp1 others(77): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0030 a0001c0001t0001g0056 a0001c0001t0001g0169 others(68): Show |
80 | 380 | 0.2105 | 1 | c.238 others(9): Show |
SMYD2 | ENSG00000143499.14 | transcript | ENST00000366957.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SMYD2_chr1_214276159_214342131 | 214325773 | C | CT | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00423.hp2 others(123): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0046 a0001c0001t0001g0144 a0001c0001t0001g0169 others(110): Show |
126 | 380 | 0.3316 | 1 | c.602 others(9): Show |
SMYD2 | ENSG00000143499.14 | transcript | ENST00000366957.10 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SMYD2_chr1_214276159_214342131 | 214328252 | C | CT | intron_variant | MODIFIER | HG02647.hp2 HG02886.hp1 HG02896.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 others(2): Show |
5 | 380 | 0.0132 | 1 | c.705 others(8): Show |
SMYD2 | ENSG00000143499.14 | transcript | ENST00000366957.10 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SMYD2_chr1_214276159_214342131 | 214328462 | A | AC | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00423.hp1 others(134): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0002a0004c0004t0003 | a0001c0001t0001g0030 a0001c0001t0001g0144 a0001c0001t0001g0169 others(122): Show |
137 | 380 | 0.3605 | 1 | c.705 others(8): Show |
SMYD2 | ENSG00000143499.14 | transcript | ENST00000366957.10 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SMYD2_chr1_214276159_214342131 | 214332016 | A | AC | frameshift_variant | HIGH | NA18991.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0131 | 1 | 380 | 0.0026 | 1 | c.941 others(4): Show |
p.Ser others(5): Show |
SMYD2 | ENSG00000143499.14 | transcript | ENST00000366957.10 | protein_coding | 10/12 | 1038/1745 | 942/1302 | 314/433 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
SMYD2_chr1_214276159_214342131 | 214338772 | T | TA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(235): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 others(219): Show |
238 | 380 | 0.6263 | 1 | c.*19 others(12): Show |
SMYD2 | ENSG00000143499.14 | transcript | ENST00000366957.10 | protein_coding | 1642 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 245752512 | C | CT | intron_variant | MODIFIER | HG00544.hp2 HG02015.hp1 HG02280.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0006a0001c0009others(3): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0001others(3): Show | a0001c0001t0001g0007 a0001c0001t0001g0019 a0001c0001t0001g0050 others(10): Show |
13 | 150 | 0.0867 | 1 | c.118 others(10): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 11/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 245753251 | G | GA | intron_variant | MODIFIER | HG00140.hp2 HG00621.hp2 HG00733.hp2 others(18): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(5): Show | a0001c0001t0001g0021 a0001c0001t0001g0044 a0001c0001t0001g0046 others(18): Show |
21 | 150 | 0.1400 | 1 | c.118 others(10): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 11/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 245756799 | C | CT | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(94): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0006others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(17): Show | a0001c0001t0001g0007 a0001c0001t0001g0018 a0001c0001t0001g0019 others(94): Show |
97 | 150 | 0.6467 | 1 | c.118 others(10): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 11/11 | chr1 | TogoVar |