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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CROCC2_chr2_240901336_240998311 | 240924947 | G | GTCCCCCA others(672): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 350 | 0.0029 | 679 | c.489 others(694): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | chr2 | TogoVar | ||||||
EFNA2_chr19_1280873_1306431 | 1282324 | G | GGGGGAAG others(672): Show |
upstream_gene_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0058 | 1 | 294 | 0.0034 | 679 | c.-38 others(690): Show |
EFNA2 | ENSG00000099617.4 | transcript | ENST00000215368.4 | protein_coding | 3548 | chr19 | TogoVar | ||||||
EGFR_chr7_55014017_55216628 | 55167504 | G | GTGGTGGT others(672): Show |
intron_variant | MODIFIER | HG01099.hp1 HG04204.hp2 |
a0001 | a0001c0005 | a0001c0005t0006 | a0001c0005t0006g0099a0001c0005t0006g0102 | 2 | 250 | 0.0080 | 679 | c.188 others(698): Show |
EGFR | ENSG00000146648.21 | transcript | ENST00000275493.7 | protein_coding | 15/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EGFR_chr7_55014017_55216628 | 55167504 | G | GTGGTGGT others(672): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01074.hp2 HG01346.hp1 others(9): Show |
a0001a0005 | a0001c0005a0001c0007a0001c0012others(3): Show | a0001c0005t0006a0001c0005t0013a0001c0007t0006others(7): Show | a0001c0005t0006g0051a0001c0005t0006g0080a0001c0005t0013g0233others(9): Show | 12 | 250 | 0.0480 | 679 | c.188 others(698): Show |
EGFR | ENSG00000146648.21 | transcript | ENST00000275493.7 | protein_coding | 15/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
FAM174C_chr19_1270530_1284228 | 1282324 | G | GGGGGAAG others(672): Show |
downstream_gene_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0012 | 1 | 254 | 0.0039 | 679 | c.*35 others(690): Show |
FAM174C | ENSG00000228300.14 | transcript | ENST00000409293.6 | protein_coding | 3097 | chr19 | TogoVar | ||||||
FAM174C_chr19_1270530_1284228 | 1282324 | G | GGGGGAAG others(672): Show |
downstream_gene_variant | MODIFIER | HG01255.hp1 | a0002 | a0002c0010 | a0002c0010t0001 | a0002c0010t0001g0007 | 1 | 254 | 0.0039 | 679 | c.*35 others(690): Show |
FAM174C | ENSG00000228300.14 | transcript | ENST00000409293.6 | protein_coding | 3097 | chr19 | TogoVar | ||||||
GAS6_chr13_113815549_113869076 | 113817317 | T | TCCTCCCC others(672): Show |
downstream_gene_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 143 | 0.0070 | 679 | c.*35 others(690): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 3231 | chr13 | TogoVar | ||||||
GNG13_chr16_793041_805734 | 795593 | T | TGCTGCCC others(672): Show |
downstream_gene_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 422 | 0.0024 | 679 | c.*31 others(690): Show |
GNG13 | ENSG00000127588.5 | transcript | ENST00000248150.5 | protein_coding | 2447 | chr16 | TogoVar | ||||||
HCN1_chr5_45249948_45701380 | 45376251 | A | AGAATATA others(672): Show |
intron_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0079 | 1 | 226 | 0.0044 | 679 | c.123 others(700): Show |
HCN1 | ENSG00000164588.8 | transcript | ENST00000303230.6 | protein_coding | 4/7 | chr5 | TogoVar | ||||||
IL1RAPL2_chrX_104561199_105772829 | 105307514 | T | TATATATA others(672): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 141 | 0.0071 | 679 | c.697 others(698): Show |
IL1RAPL2 | ENSG00000189108.14 | transcript | ENST00000372582.6 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ITGB1BP1_chr2_9398475_9428528 | 9400249 | T | TTCCCCTC others(672): Show |
downstream_gene_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0197 | 1 | 276 | 0.0036 | 679 | c.*65 others(690): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 3225 | chr2 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124471482 | T | TTATATAT others(672): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0037 | 1 | 260 | 0.0039 | 679 | c.125 others(696): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LRRC74A_chr14_76821408_76875304 | 76867200 | G | GGGGGGTG others(672): Show |
intron_variant | MODIFIER | NA19072.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0226 | 1 | 408 | 0.0025 | 679 | c.130 others(696): Show |
LRRC74A | ENSG00000100565.16 | transcript | ENST00000689127.1 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
LY75_chr2_159798355_159909756 | 159874319 | G | GTTTTGTA others(672): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp1 |
a0010 | a0010c0014 | a0010c0014t0002 | a0010c0014t0002g0005 | 2 | 330 | 0.0061 | 679 | c.197 others(698): Show |
LY75 | ENSG00000054219.11 | transcript | ENST00000263636.5 | protein_coding | 12/34 | chr2 | TogoVar | ||||||
MAN2B2_chr4_6570189_6628362 | 6579132 | C | CCACCATC others(672): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0234 | 1 | 362 | 0.0028 | 679 | c.391 others(694): Show |
MAN2B2 | ENSG00000013288.9 | transcript | ENST00000285599.8 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
MAN2B2_chr4_6570189_6628362 | 6579259 | C | CCACCACC others(672): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02015.hp1 NA18949.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0004 | a0002c0002t0001g0006a0002c0002t0001g0318a0002c0002t0004g0006 | 4 | 362 | 0.0111 | 679 | c.391 others(694): Show |
MAN2B2 | ENSG00000013288.9 | transcript | ENST00000285599.8 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
MAP3K15_chrX_19355059_19520508 | 19478087 | A | AGAGGGGG others(672): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0131 | 1 | 163 | 0.0061 | 679 | c.525 others(696): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 3/28 | chrX | TogoVar | ||||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(672): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 | 1 | 272 | 0.0037 | 679 | c.250 others(694): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(672): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0219 | 1 | 272 | 0.0037 | 679 | c.250 others(694): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
MSRB3_chr12_65273683_65471907 | 65425002 | C | CTATATAT others(672): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 312 | 0.0032 | 679 | c.293 others(698): Show |
MSRB3 | ENSG00000174099.12 | transcript | ENST00000308259.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MSRB3_chr12_65273683_65471907 | 65425002 | C | CTATATAT others(672): Show |
intron_variant | MODIFIER | HG00673.hp2 HG02155.hp1 HG02165.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149a0001c0001t0001g0226a0001c0001t0001g0227others(3): Show | 6 | 312 | 0.0192 | 679 | c.293 others(698): Show |
MSRB3 | ENSG00000174099.12 | transcript | ENST00000308259.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MSRB3_chr12_65273683_65471907 | 65425002 | C | CTATATAT others(672): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01346.hp1 HG01433.hp1 others(14): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0007a0001c0001t0026others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0151a0001c0001t0001g0185others(13): Show | 17 | 312 | 0.0545 | 679 | c.293 others(698): Show |
MSRB3 | ENSG00000174099.12 | transcript | ENST00000308259.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MSRB3_chr12_65273683_65471907 | 65425002 | C | CTATATAT others(672): Show |
intron_variant | MODIFIER | HG02027.hp1 NA18939.hp2 NA18951.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215a0001c0001t0001g0247a0001c0001t0001g0249others(1): Show | 4 | 312 | 0.0128 | 679 | c.293 others(698): Show |
MSRB3 | ENSG00000174099.12 | transcript | ENST00000308259.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MSRB3_chr12_65273683_65471907 | 65425002 | C | CTATATAT others(672): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 312 | 0.0032 | 679 | c.293 others(698): Show |
MSRB3 | ENSG00000174099.12 | transcript | ENST00000308259.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MYNN_chr3_169768396_169794716 | 169770602 | A | AATATAAA others(672): Show |
upstream_gene_variant | MODIFIER | HG02129.hp1 | a0002 | a0002c0006 | a0002c0006t0018 | a0002c0006t0018g0002 | 1 | 350 | 0.0029 | 679 | c.-28 others(690): Show |
MYNN | ENSG00000085274.16 | transcript | ENST00000349841.10 | protein_coding | 2793 | chr3 | TogoVar | ||||||
NGEF_chr2_232873701_233018256 | 232995356 | C | CTGTATAC others(672): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0075 | 1 | 362 | 0.0028 | 679 | c.-75 others(698): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | ||||||
NOTCH1_chr9_136489433_136551048 | 136528441 | A | AGGGGGGG others(672): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00423.hp1 others(65): Show |
a0001a0006a0012others(4): Show | a0001c0002a0001c0006a0001c0009others(18): Show | a0001c0002t0002a0001c0002t0004a0001c0002t0005others(28): Show | a0001c0002t0002g0082a0001c0002t0004g0097a0001c0002t0005g0050others(64): Show | 68 | 324 | 0.2099 | 679 | c.141 others(696): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | ||||||
PCNT_chr21_46319156_46450769 | 46404099 | C | CGGCGCGT others(672): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0119 | 1 | 332 | 0.0030 | 679 | c.511 others(698): Show |
PCNT | ENSG00000160299.19 | transcript | ENST00000359568.10 | protein_coding | 27/46 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCNT_chr21_46319156_46450769 | 46404099 | C | CGGCGCGT others(672): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02615.hp2 |
a0004 | a0004c0023 | a0004c0023t0003 | a0004c0023t0003g0091a0004c0023t0003g0092 | 2 | 332 | 0.0060 | 679 | c.511 others(698): Show |
PCNT | ENSG00000160299.19 | transcript | ENST00000359568.10 | protein_coding | 27/46 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PDCD6_chr5_266646_319974 | 318049 | C | CCCTCCCC others(672): Show |
downstream_gene_variant | MODIFIER | NA18987.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 360 | 0.0028 | 679 | c.*35 others(690): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 3076 | chr5 | TogoVar | ||||||
PLA2G6_chr22_38106495_38186830 | 38110125 | G | GAGGGAGA others(672): Show |
downstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 10 | 0.1000 | 679 | c.*20 others(690): Show |
PLA2G6 | ENSG00000184381.20 | transcript | ENST00000332509.8 | protein_coding | 1369 | chr22 | TogoVar | ||||||
PRKCB_chr16_23830983_24225611 | 24109274 | C | CGGGCGGG others(672): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02976.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0070a0001c0003t0075 | a0001c0002t0070g0045a0001c0003t0075g0019 | 2 | 148 | 0.0135 | 679 | c.822 others(696): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RAB11FIP3_chr16_420649_528011 | 492360 | T | TCTTCCCG others(672): Show |
intron_variant | MODIFIER | HG03139.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0290a0001c0001t0001g0292 | 2 | 295 | 0.0068 | 679 | c.126 others(698): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RAB11FIP3_chr16_420649_528011 | 492388 | A | AGCCCTCC others(672): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0011 | a0001c0011t0002 | a0001c0011t0002g0019 | 1 | 295 | 0.0034 | 679 | c.126 others(698): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RND2_chr17_43020231_43037041 | 43024257 | A | AATCTCGG others(672): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 HG01433.hp2 HG02602.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0005a0001c0001t0002g0006a0001c0001t0002g0009others(4): Show | 8 | 322 | 0.0248 | 679 | c.-10 others(690): Show |
RND2 | ENSG00000108830.11 | transcript | ENST00000587250.4 | protein_coding | 973 | chr17 | TogoVar | ||||||
RND2_chr17_43020231_43037041 | 43024257 | A | AATCTCGG others(672): Show |
upstream_gene_variant | MODIFIER | HG02683.hp2 HG06807.hp2 NA19062.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0006a0001c0001t0002g0010a0001c0001t0008g0002 | 3 | 322 | 0.0093 | 679 | c.-10 others(690): Show |
RND2 | ENSG00000108830.11 | transcript | ENST00000587250.4 | protein_coding | 973 | chr17 | TogoVar | ||||||
RPA3_chr7_7631518_7723607 | 7679092 | T | TATAAATA others(672): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01256.hp1 NA18948.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0268a0001c0001t0003g0273a0001c0001t0003g0281 | 3 | 308 | 0.0097 | 679 | c.-75 others(698): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
RPA3_chr7_7631518_7723607 | 7679092 | T | TATAAATA others(672): Show |
intron_variant | MODIFIER | NA18960.hp2 NA18978.hp2 NA19090.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0264a0001c0001t0003g0267a0001c0001t0003g0275 | 3 | 308 | 0.0097 | 679 | c.-75 others(698): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
RPA3_chr7_7631518_7723607 | 7679098 | C | CATATATT others(672): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 308 | 0.0033 | 679 | c.-75 others(698): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
SCAF4_chr21_31666000_31737118 | 31673471 | A | ATACTTTA others(672): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01099.hp1 HG01106.hp1 others(4): Show |
a0001 | a0001c0003a0001c0005a0001c0011 | a0001c0003t0002a0001c0005t0001a0001c0005t0002others(1): Show | a0001c0003t0002g0001a0001c0003t0002g0016a0001c0005t0001g0345others(3): Show | 7 | 352 | 0.0199 | 679 | c.248 others(698): Show |
SCAF4 | ENSG00000156304.15 | transcript | ENST00000286835.12 | protein_coding | 19/19 | chr21 | TogoVar | ||||||
SCAF4_chr21_31666000_31737118 | 31673471 | A | ATACTTTA others(672): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02965.hp2 HG02976.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0127a0001c0001t0001g0128others(2): Show | 6 | 352 | 0.0171 | 679 | c.248 others(698): Show |
SCAF4 | ENSG00000156304.15 | transcript | ENST00000286835.12 | protein_coding | 19/19 | chr21 | TogoVar | ||||||
SEL1L2_chr20_13844247_13995614 | 13934343 | C | CATATATA others(672): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 324 | 0.0031 | 679 | c.115 others(696): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | ||||||
SEPTIN9_chr17_77276499_77505593 | 77356681 | C | CCCCCTCC others(672): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0003 | a0003c0003 | a0003c0003t0037 | a0003c0003t0037g0137 | 1 | 150 | 0.0067 | 679 | c.77- others(696): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SEPTIN9_chr17_77314518_77505593 | 77356681 | C | CCCCCTCC others(672): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0003 | a0003c0003 | a0003c0003t0047 | a0003c0003t0047g0127 | 1 | 158 | 0.0063 | 679 | c.22+ others(696): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SLC16A3_chr17_82224042_82245086 | 82227685 | C | CACCACCC others(672): Show |
upstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226 | 1 | 410 | 0.0024 | 679 | c.-14 others(690): Show |
SLC16A3 | ENSG00000141526.18 | transcript | ENST00000582743.6 | protein_coding | 1356 | chr17 | TogoVar | ||||||
SLIT3_chr5_168656740_169306139 | 168755402 | T | TTTCTTTC others(672): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0002 | a0002c0008 | a0002c0008t0002 | a0002c0008t0002g0017 | 1 | 132 | 0.0076 | 679 | c.168 others(698): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 16/35 | chr5 | TogoVar | ||||||
SMIM47_chr19_50780728_50791160 | 50784593 | A | AGGGAGGG others(672): Show |
downstream_gene_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 352 | 0.0028 | 679 | c.*12 others(690): Show |
SMIM47 | ENSG00000261341.7 | transcript | ENST00000562076.2 | protein_coding | 1134 | chr19 | TogoVar | ||||||
SMIM47_chr19_50780728_50791160 | 50784593 | A | AGGGAGGG others(672): Show |
downstream_gene_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 352 | 0.0028 | 679 | c.*12 others(690): Show |
SMIM47 | ENSG00000261341.7 | transcript | ENST00000562076.2 | protein_coding | 1134 | chr19 | TogoVar | ||||||
SOD1_chr21_31654693_31673931 | 31673471 | A | ATACTTTA others(672): Show |
downstream_gene_variant | MODIFIER | HG00738.hp2 HG01099.hp1 HG01106.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0015a0001c0001t0001g0034a0001c0001t0003g0016 | 7 | 426 | 0.0164 | 679 | c.*48 others(690): Show |
SOD1 | ENSG00000142168.15 | transcript | ENST00000270142.11 | protein_coding | 4541 | chr21 | TogoVar | ||||||
SOD1_chr21_31654693_31673931 | 31673471 | A | ATACTTTA others(672): Show |
downstream_gene_variant | MODIFIER | HG02615.hp2 HG02965.hp2 HG02976.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 6 | 426 | 0.0141 | 679 | c.*48 others(690): Show |
SOD1 | ENSG00000142168.15 | transcript | ENST00000270142.11 | protein_coding | 4541 | chr21 | TogoVar |