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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SCN5A_chr3_38543062_38654687 | 38584574 | C | CAGAATGA others(6110): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0176 | 1 | 340 | 0.0029 | 6117 | c.278 others(6136): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 16/27 | chr3 | TogoVar | |||||||
SCN5A_chr3_38543062_38654687 | 38584574 | C | CAGAATGA others(6110): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00544.hp1 others(3): Show |
a0001a0003a0024 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0006a0001c0002t0001a0001c0003t0003others(2): Show | a0001c0001t0006g0172 a0001c0002t0001g0300 a0001c0002t0001g0304 others(3): Show |
6 | 340 | 0.0177 | 6117 | c.278 others(6136): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 16/27 | chr3 | TogoVar | |||||||
SCN5A_chr3_38543062_38654687 | 38584574 | C | CAGAATGA others(6110): Show |
intron_variant | MODIFIER | NA19082.hp2 | a0025 | a0025c0075 | a0025c0075t0003 | a0025c0075t0003g0166 | 1 | 340 | 0.0029 | 6117 | c.278 others(6136): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 16/27 | chr3 | TogoVar | |||||||
SCN5A_chr3_38543062_38654687 | 38584574 | C | CAGAATGA others(6110): Show |
intron_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0149 | 1 | 340 | 0.0029 | 6117 | c.278 others(6136): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 16/27 | chr3 | TogoVar | |||||||
SCN5A_chr3_38543062_38654687 | 38584574 | C | CAGAATGA others(6110): Show |
intron_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0165 | 1 | 340 | 0.0029 | 6117 | c.278 others(6136): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 16/27 | chr3 | TogoVar | |||||||
SCN5A_chr3_38543062_38654687 | 38584574 | C | CAGAATGA others(6110): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0197 | 1 | 340 | 0.0029 | 6117 | c.278 others(6136): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 16/27 | chr3 | TogoVar | |||||||
SCN5A_chr3_38543062_38654687 | 38584574 | C | CAGAATGA others(6110): Show |
intron_variant | MODIFIER | HG02135.hp2 NA18952.hp2 |
a0001a0020 | a0001c0001a0020c0052 | a0001c0001t0002a0020c0052t0004 | a0001c0001t0002g0272 a0020c0052t0004g0327 |
2 | 340 | 0.0059 | 6117 | c.278 others(6136): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 16/27 | chr3 | TogoVar | |||||||
SCN5A_chr3_38543062_38654687 | 38584574 | C | CAGAATGA others(6110): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0106 | 1 | 340 | 0.0029 | 6117 | c.278 others(6136): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 16/27 | chr3 | TogoVar | |||||||
SCN5A_chr3_38543062_38654687 | 38584574 | C | CAGAATGA others(6110): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0002 | a0002c0015 | a0002c0015t0014 | a0002c0015t0014g0023 | 1 | 340 | 0.0029 | 6117 | c.278 others(6136): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 16/27 | chr3 | TogoVar | |||||||
ZMAT4_chr8_40525590_40902826 | 40575656 | A | AGGAAAAA others(6110): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0220 | 1 | 228 | 0.0044 | 6117 | c.674 others(6134): Show |
ZMAT4 | ENSG00000165061.15 | transcript | ENST00000297737.11 | protein_coding | 6/6 | chr8 | TogoVar | |||||||
ZMAT4_chr8_40525590_40902826 | 40575656 | A | AGGAAAAA others(6110): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02622.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0121 a0001c0001t0004g0104 |
2 | 228 | 0.0088 | 6117 | c.674 others(6134): Show |
ZMAT4 | ENSG00000165061.15 | transcript | ENST00000297737.11 | protein_coding | 6/6 | chr8 | TogoVar | |||||||
ZMAT4_chr8_40525590_40902826 | 40575656 | A | AGGAAAAA others(6110): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0078 | 1 | 228 | 0.0044 | 6117 | c.674 others(6134): Show |
ZMAT4 | ENSG00000165061.15 | transcript | ENST00000297737.11 | protein_coding | 6/6 | chr8 | TogoVar | |||||||
ZMAT4_chr8_40525590_40902826 | 40575656 | A | AGGAAAAA others(6110): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02615.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009 a0001c0001t0002g0091 a0001c0001t0002g0168 |
3 | 228 | 0.0132 | 6117 | c.674 others(6134): Show |
ZMAT4 | ENSG00000165061.15 | transcript | ENST00000297737.11 | protein_coding | 6/6 | chr8 | TogoVar | |||||||
ZMAT4_chr8_40525590_40902826 | 40575656 | A | AGGAAAAA others(6110): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 | 1 | 228 | 0.0044 | 6117 | c.674 others(6134): Show |
ZMAT4 | ENSG00000165061.15 | transcript | ENST00000297737.11 | protein_coding | 6/6 | chr8 | TogoVar | |||||||
PHRF1_chr11_571470_617222 | 585658 | T | TTGAGGTA others(6111): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0035 | a0001c0035t0014 | a0001c0035t0014g0105 | 1 | 279 | 0.0036 | 6118 | c.215 others(6135): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SCN5A_chr3_38543062_38654687 | 38584574 | C | CAGAATGA others(6111): Show |
intron_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0079 | 1 | 340 | 0.0029 | 6118 | c.278 others(6137): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 16/27 | chr3 | TogoVar | |||||||
SCN5A_chr3_38543062_38654687 | 38584574 | C | CAGAATGA others(6111): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00673.hp2 HG02129.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0003a0001c0001t0004a0001c0003t0003others(2): Show | a0001c0001t0003g0052 a0001c0001t0003g0245 a0001c0001t0004g0317 others(3): Show |
6 | 340 | 0.0177 | 6118 | c.278 others(6137): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 16/27 | chr3 | TogoVar | |||||||
SCN5A_chr3_38543062_38654687 | 38584574 | C | CAGAATGA others(6111): Show |
intron_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0254 | 1 | 340 | 0.0029 | 6118 | c.278 others(6137): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 16/27 | chr3 | TogoVar | |||||||
SCN5A_chr3_38543062_38654687 | 38584574 | C | CAGAATGA others(6111): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00738.hp1 HG01109.hp2 others(19): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(8): Show | a0001c0001t0003g0185 a0001c0001t0003g0226 a0001c0001t0004g0333 others(18): Show |
22 | 340 | 0.0647 | 6118 | c.278 others(6137): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 16/27 | chr3 | TogoVar | |||||||
SCN5A_chr3_38543062_38654687 | 38584574 | C | CAGAATGA others(6111): Show |
intron_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0223 | 1 | 340 | 0.0029 | 6118 | c.278 others(6137): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 16/27 | chr3 | TogoVar | |||||||
SCN5A_chr3_38543062_38654687 | 38584574 | C | CAGAATGA others(6111): Show |
intron_variant | MODIFIER | NA18956.hp2 NA19007.hp1 NA19057.hp2 others(1): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0001 | a0001c0002t0001g0150 a0001c0004t0001g0080 a0001c0004t0001g0089 others(1): Show |
4 | 340 | 0.0118 | 6118 | c.278 others(6137): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 16/27 | chr3 | TogoVar | |||||||
SCN5A_chr3_38543062_38654687 | 38584574 | C | CAGAATGA others(6111): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0095 | 1 | 340 | 0.0029 | 6118 | c.278 others(6137): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 16/27 | chr3 | TogoVar | |||||||
SCN5A_chr3_38543062_38654687 | 38584574 | C | CAGAATGA others(6111): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0065 | 1 | 340 | 0.0029 | 6118 | c.278 others(6137): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 16/27 | chr3 | TogoVar | |||||||
SCN5A_chr3_38543062_38654687 | 38584574 | C | CAGAATGA others(6111): Show |
intron_variant | MODIFIER | NA18975.hp2 NA19070.hp2 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0100 a0001c0003t0003g0294 |
2 | 340 | 0.0059 | 6118 | c.278 others(6137): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 16/27 | chr3 | TogoVar | |||||||
SCN5A_chr3_38543062_38654687 | 38584574 | C | CAGAATGA others(6111): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0033 | a0001c0033t0002 | a0001c0033t0002g0066 | 1 | 340 | 0.0029 | 6118 | c.278 others(6137): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 16/27 | chr3 | TogoVar | |||||||
SCN5A_chr3_38543062_38654687 | 38584574 | C | CAGAATGA others(6111): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01943.hp1 HG01975.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0107 a0001c0001t0002g0199 a0001c0001t0002g0255 others(14): Show |
18 | 340 | 0.0529 | 6118 | c.278 others(6137): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 16/27 | chr3 | TogoVar | |||||||
ZMAT4_chr8_40525590_40902826 | 40575656 | A | AGGAAAAA others(6111): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 228 | 0.0044 | 6118 | c.674 others(6135): Show |
ZMAT4 | ENSG00000165061.15 | transcript | ENST00000297737.11 | protein_coding | 6/6 | chr8 | TogoVar | |||||||
ZMAT4_chr8_40525590_40902826 | 40575656 | A | AGGAAAAA others(6111): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213 | 1 | 228 | 0.0044 | 6118 | c.674 others(6135): Show |
ZMAT4 | ENSG00000165061.15 | transcript | ENST00000297737.11 | protein_coding | 6/6 | chr8 | TogoVar | |||||||
ZMAT4_chr8_40525590_40902826 | 40575656 | A | AGGAAAAA others(6111): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 228 | 0.0044 | 6118 | c.674 others(6135): Show |
ZMAT4 | ENSG00000165061.15 | transcript | ENST00000297737.11 | protein_coding | 6/6 | chr8 | TogoVar | |||||||
ZMAT4_chr8_40525590_40902826 | 40575656 | A | AGGAAAAA others(6111): Show |
intron_variant | MODIFIER | HG03130.hp2 NA18906.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0051 a0001c0001t0002g0040 a0001c0001t0002g0128 |
3 | 228 | 0.0132 | 6118 | c.674 others(6135): Show |
ZMAT4 | ENSG00000165061.15 | transcript | ENST00000297737.11 | protein_coding | 6/6 | chr8 | TogoVar | |||||||
ZMAT4_chr8_40525590_40902826 | 40575656 | A | AGGAAAAA others(6111): Show |
intron_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0133 | 1 | 228 | 0.0044 | 6118 | c.674 others(6135): Show |
ZMAT4 | ENSG00000165061.15 | transcript | ENST00000297737.11 | protein_coding | 6/6 | chr8 | TogoVar | |||||||
ZMAT4_chr8_40525590_40902826 | 40575656 | A | AGGAAAAA others(6111): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0017 | 1 | 228 | 0.0044 | 6118 | c.674 others(6135): Show |
ZMAT4 | ENSG00000165061.15 | transcript | ENST00000297737.11 | protein_coding | 6/6 | chr8 | TogoVar | |||||||
ARK2C_chr18_46329018_46468140 | 46388960 | G | GTTTATTG others(6112): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 260 | 0.0039 | 6119 | c.62- others(6136): Show |
ARK2C | ENSG00000141622.14 | transcript | ENST00000269439.12 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SCN5A_chr3_38543062_38654687 | 38584574 | C | CAGAATGA others(6112): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0297 | 1 | 340 | 0.0029 | 6119 | c.278 others(6138): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 16/27 | chr3 | TogoVar | |||||||
SCN5A_chr3_38543062_38654687 | 38584574 | C | CAGAATGA others(6112): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0013 | a0013c0047 | a0013c0047t0001 | a0013c0047t0001g0045 | 1 | 340 | 0.0029 | 6119 | c.278 others(6138): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 16/27 | chr3 | TogoVar | |||||||
ZMAT4_chr8_40525590_40902826 | 40575656 | A | AGGAAAAA others(6112): Show |
intron_variant | MODIFIER | HG02486.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0144 a0001c0001t0002g0039 |
2 | 228 | 0.0088 | 6119 | c.674 others(6136): Show |
ZMAT4 | ENSG00000165061.15 | transcript | ENST00000297737.11 | protein_coding | 6/6 | chr8 | TogoVar | |||||||
ZMAT4_chr8_40525590_40902826 | 40575656 | A | AGGAAAAA others(6112): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 228 | 0.0044 | 6119 | c.674 others(6136): Show |
ZMAT4 | ENSG00000165061.15 | transcript | ENST00000297737.11 | protein_coding | 6/6 | chr8 | TogoVar | |||||||
ZMAT4_chr8_40525590_40902826 | 40575656 | A | AGGAAAAA others(6112): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0110 | 1 | 228 | 0.0044 | 6119 | c.674 others(6136): Show |
ZMAT4 | ENSG00000165061.15 | transcript | ENST00000297737.11 | protein_coding | 6/6 | chr8 | TogoVar | |||||||
FAM227A_chr22_38573118_38661392 | 38644446 | A | ACTATGCT others(6113): Show |
intron_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0316 | 1 | 328 | 0.0031 | 6120 | c.225 others(6137): Show |
FAM227A | ENSG00000184949.18 | transcript | ENST00000535113.7 | protein_coding | 3/16 | chr22 | TogoVar | |||||||
LAMA2_chr6_128878138_129521566 | 128982982 | T | TGTGCCAC others(6113): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0033 | 1 | 88 | 0.0114 | 6120 | c.113 others(6139): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 1/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
NPAS3_chr14_32933879_33809173 | 33670918 | T | TCAAAGTA others(6113): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 92 | 0.0109 | 6120 | c.559 others(6137): Show |
NPAS3 | ENSG00000151322.20 | transcript | ENST00000356141.9 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
NPAS3_chr14_32933879_33809173 | 33670918 | T | TCAAAGTA others(6113): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0014 | 1 | 92 | 0.0109 | 6120 | c.559 others(6137): Show |
NPAS3 | ENSG00000151322.20 | transcript | ENST00000356141.9 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
NPAS3_chr14_32933879_33809173 | 33670918 | T | TCAAAGTA others(6113): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0083 | 1 | 92 | 0.0109 | 6120 | c.559 others(6137): Show |
NPAS3 | ENSG00000151322.20 | transcript | ENST00000356141.9 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
NPAS3_chr14_32933879_33809173 | 33670918 | T | TCAAAGTA others(6113): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0061 | 1 | 92 | 0.0109 | 6120 | c.559 others(6137): Show |
NPAS3 | ENSG00000151322.20 | transcript | ENST00000356141.9 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SCN5A_chr3_38543062_38654687 | 38584574 | C | CAGAATGA others(6113): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0055 | a0001c0055t0020 | a0001c0055t0020g0034 | 1 | 340 | 0.0029 | 6120 | c.278 others(6139): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 16/27 | chr3 | TogoVar | |||||||
REELD1_chr4_146209538_146237267 | 146220471 | T | TTAATTTT others(6114): Show |
intron_variant | MODIFIER | NA18985.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0049 | 1 | 434 | 0.0023 | 6121 | c.209 others(6138): Show |
REELD1 | ENSG00000250673.3 | transcript | ENST00000623665.2 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SCN5A_chr3_38543062_38654687 | 38584574 | C | CAGAATGA others(6114): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0325 | 1 | 340 | 0.0029 | 6121 | c.278 others(6140): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 16/27 | chr3 | TogoVar | |||||||
SCN5A_chr3_38543062_38654687 | 38584574 | C | CAGAATGA others(6114): Show |
intron_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0076 | 1 | 340 | 0.0029 | 6121 | c.278 others(6140): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 16/27 | chr3 | TogoVar | |||||||
CPNE4_chr3_131528569_132040014 | 131815886 | T | TTCCTATA others(6115): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0084 | 1 | 94 | 0.0106 | 6122 | c.180 others(6141): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 2/15 | chr3 | TogoVar | |||||||
DNAH8_chr6_38710311_39035792 | 38756890 | T | TGTGCCAC others(6115): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0071 | a0071c0096 | a0071c0096t0001 | a0071c0096t0001g0046 | 1 | 284 | 0.0035 | 6122 | c.151 others(6139): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 10/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |