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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CACNA1B_chr9_137872782_138129619 | 138018896 | C | CCAGGTGC others(881): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0004 | a0004c0023 | a0004c0023t0042 | a0004c0023t0042g0076 | 1 | 245 | 0.0041 | 888 | c.226 others(907): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CACNA1B_chr9_137872782_138129619 | 138018970 | C | CCAGGTGC others(881): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0005 | a0005c0014 | a0005c0014t0006 | a0005c0014t0006g0147 | 1 | 234 | 0.0043 | 888 | c.226 others(907): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12776122 | A | AGACTGTG others(881): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0002 | a0001c0002t0032 | a0001c0002t0032g0008 | 1 | 9 | 0.1111 | 888 | c.565 others(905): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 5/10 | chr10 | TogoVar | |||||||
CAMK1D_chr10_12344547_12840545 | 12776122 | A | AGACTGTG others(881): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0026 | 1 | 9 | 0.1111 | 888 | c.565 others(905): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 5/10 | chr10 | TogoVar | |||||||
CAMK1D_chr10_12344547_12840545 | 12776122 | A | AGACTGTG others(881): Show |
intron_variant | MODIFIER | HG01099.hp2 NA18959.hp1 NA19085.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0038a0001c0001t0058 | a0001c0001t0003g0167 a0001c0001t0038g0174 a0001c0001t0058g0093 |
3 | 11 | 0.2727 | 888 | c.565 others(905): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 5/10 | chr10 | TogoVar | |||||||
CASZ1_chr1_10631604_10801646 | 10744344 | C | CGGCACCA others(881): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0117 | 1 | 107 | 0.0093 | 888 | c.-77 others(907): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 2/20 | chr1 | TogoVar | |||||||
CCNL2_chr1_1380711_1404335 | 1382625 | A | ACCCTTCC others(881): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG00544.hp1 HG00558.hp2 others(82): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0002 a0001c0001t0001g0035 a0001c0001t0001g0121 others(49): Show |
85 | 86 | 0.9884 | 888 | c.*46 others(899): Show |
CCNL2 | ENSG00000221978.13 | transcript | ENST00000400809.8 | protein_coding | 3085 | chr1 | TogoVar | |||||||
CCNL2_chr1_1380711_1404335 | 1382625 | A | ACCCTTCC others(881): Show |
downstream_gene_variant | MODIFIER | NA18944.hp2 NA19006.hp1 NA19060.hp2 |
a0002 | a0002c0004 | a0002c0004t0005 | a0002c0004t0005g0102 a0002c0004t0005g0103 a0002c0004t0005g0104 |
3 | 4 | 0.7500 | 888 | c.*46 others(899): Show |
CCNL2 | ENSG00000221978.13 | transcript | ENST00000400809.8 | protein_coding | 3085 | chr1 | TogoVar | |||||||
CCNL2_chr1_1380711_1404335 | 1382625 | A | ACCCTTCC others(881): Show |
downstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0101 | 1 | 2 | 0.5000 | 888 | c.*46 others(899): Show |
CCNL2 | ENSG00000221978.13 | transcript | ENST00000400809.8 | protein_coding | 3085 | chr1 | TogoVar | |||||||
CCNL2_chr1_1380711_1404335 | 1382625 | A | ACCCTTCC others(881): Show |
downstream_gene_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0017 | 1 | 2 | 0.5000 | 888 | c.*46 others(899): Show |
CCNL2 | ENSG00000221978.13 | transcript | ENST00000400809.8 | protein_coding | 3085 | chr1 | TogoVar | |||||||
COL4A2_chr13_110302284_110518209 | 110385930 | T | TTACAGTG others(881): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0002 | a0002c0006 | a0002c0006t0005 | a0002c0006t0005g0110 | 1 | 184 | 0.0054 | 888 | c.180 others(907): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134685430 | C | CCATCCAT others(881): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03130.hp1 NA19030.hp2 |
a0001 | a0001c0001a0001c0004a0001c0061 | a0001c0001t0007a0001c0004t0004a0001c0061t0013 | a0001c0001t0007g0248 a0001c0004t0004g0224 a0001c0061t0013g0178 |
3 | 5 | 0.6000 | 888 | c.110 others(905): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COMMD9_chr11_36267292_36294424 | 36287120 | T | TACAATGT others(881): Show |
intron_variant | MODIFIER | NA18945.hp1 NA19054.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0234 a0001c0001t0001g0235 |
2 | 349 | 0.0057 | 888 | c.51+ others(903): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
COMMD9_chr11_36267292_36294424 | 36287120 | T | TACAATGT others(881): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241 | 1 | 348 | 0.0029 | 888 | c.51+ others(903): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
CPNE7_chr16_89570758_89602246 | 89587977 | C | CCGTGTCA others(881): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 272 | 0.0037 | 888 | c.928 others(903): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CRIP3_chr6_43300472_43313826 | 43312604 | T | TAAAAATT others(881): Show |
upstream_gene_variant | MODIFIER | HG00544.hp1 HG00642.hp1 HG00642.hp2 others(43): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(3): Show |
46 | 249 | 0.1847 | 888 | c.-38 others(899): Show |
CRIP3 | ENSG00000146215.14 | transcript | ENST00000372569.8 | protein_coding | 3779 | chr6 | TogoVar | |||||||
CRIP3_chr6_43300472_43313826 | 43312604 | T | TAAAAATT others(881): Show |
upstream_gene_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 204 | 0.0049 | 888 | c.-38 others(899): Show |
CRIP3 | ENSG00000146215.14 | transcript | ENST00000372569.8 | protein_coding | 3779 | chr6 | TogoVar | |||||||
CRIP3_chr6_43300472_43313826 | 43312604 | T | TAAAAATT others(881): Show |
upstream_gene_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 204 | 0.0049 | 888 | c.-38 others(899): Show |
CRIP3 | ENSG00000146215.14 | transcript | ENST00000372569.8 | protein_coding | 3779 | chr6 | TogoVar | |||||||
CRIP3_chr6_43300472_43313826 | 43312783 | C | CGCTTGTA others(881): Show |
upstream_gene_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 374 | 0.0027 | 888 | c.-39 others(899): Show |
CRIP3 | ENSG00000146215.14 | transcript | ENST00000372569.8 | protein_coding | 3958 | chr6 | TogoVar | |||||||
CROCC2_chr2_240901336_240998311 | 240923662 | T | TCCCCCAC others(881): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0313 | 1 | 204 | 0.0049 | 888 | c.488 others(905): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CTDP1_chr18_79674803_79759503 | 79691731 | G | GGGGGAGG others(881): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00639.hp2 others(54): Show |
a0001a0014a0015 | a0001c0001a0001c0035a0014c0031others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0035t0002others(2): Show | a0001c0001t0002g0004 a0001c0001t0002g0023 a0001c0001t0002g0024 others(54): Show |
57 | 363 | 0.1570 | 888 | c.315 others(905): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CTDP1_chr18_79674803_79759503 | 79691731 | G | GGGGGAGG others(881): Show |
intron_variant | MODIFIER | HG00621.hp2 NA19090.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0150 a0001c0001t0004g0183 |
2 | 308 | 0.0065 | 888 | c.315 others(905): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CTDP1_chr18_79674803_79759503 | 79691952 | G | GGGGTGGG others(881): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0184 | 1 | 261 | 0.0038 | 888 | c.315 others(905): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CTDP1_chr18_79674803_79759503 | 79726798 | G | GGGTGACG others(881): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0305 | 1 | 347 | 0.0029 | 888 | c.241 others(907): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
EML1_chr14_99788413_99947060 | 99928218 | G | GTGGTGAT others(881): Show |
intron_variant | MODIFIER | HG03195.hp2 NA19240.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0243 a0001c0003t0001g0244 |
2 | 146 | 0.0137 | 888 | c.190 others(907): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
EPHB2_chr1_22705839_22926500 | 22754841 | G | GGAGGTGA others(881): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0024 | 1 | 65 | 0.0154 | 888 | c.62- others(905): Show |
EPHB2 | ENSG00000133216.17 | transcript | ENST00000374630.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
F13A1_chr6_6139084_6325662 | 6262058 | G | GTGACCCT others(881): Show |
intron_variant | MODIFIER | HG03834.hp2 HG03927.hp1 HG04228.hp2 others(1): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0001c0001t0002a0005c0005t0002 | a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0002g0251 others(1): Show |
4 | 282 | 0.0142 | 888 | c.571 others(905): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 4/14 | chr6 | TogoVar | |||||||
F13A1_chr6_6139084_6325662 | 6262095 | G | GTGACCCT others(881): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 234 | 0.0043 | 888 | c.571 others(905): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 4/14 | chr6 | TogoVar | |||||||
F13A1_chr6_6139084_6325662 | 6262243 | G | GTGACCCT others(881): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0044 | 1 | 288 | 0.0035 | 888 | c.571 others(905): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 4/14 | chr6 | TogoVar | |||||||
FBXO47_chr17_38931432_38972403 | 38946735 | T | TATATAAA others(881): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0331 | 1 | 12 | 0.0833 | 888 | c.617 others(905): Show |
FBXO47 | ENSG00000204952.3 | transcript | ENST00000378079.3 | protein_coding | 6/10 | chr17 | TogoVar | |||||||
FHIT_chr3_59742277_61256452 | 60551574 | G | GAGGGGAG others(881): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0024 | 1 | 6 | 0.1667 | 888 | c.-17 others(907): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 4/9 | chr3 | TogoVar | |||||||
FHIT_chr3_59742277_61256452 | 60551574 | G | GAGGGGAG others(881): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 6 | 0.1667 | 888 | c.-17 others(907): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 4/9 | chr3 | TogoVar | |||||||
FLT4_chr5_180596506_180654600 | 180635721 | A | AAGTATGG others(881): Show |
intron_variant | MODIFIER | HG02647.hp2 HG03098.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0010a0002c0003t0001 | a0001c0001t0010g0367 a0002c0003t0001g0369 |
2 | 37 | 0.0541 | 888 | c.59- others(903): Show |
FLT4 | ENSG00000037280.16 | transcript | ENST00000261937.11 | protein_coding | 1/29 | chr5 | TogoVar | |||||||
FOXP1_chr3_70949708_71588728 | 71435643 | A | AGGAGGGA others(881): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0032 | 1 | 60 | 0.0167 | 888 | c.-16 others(909): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 3/20 | chr3 | TogoVar | |||||||
GALR1_chr18_77244848_77282900 | 77252902 | C | CCATCACC others(881): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0002 | a0001c0002t0055 | a0001c0002t0055g0216 | 1 | 356 | 0.0028 | 888 | c.666 others(905): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ITGB1BP1_chr2_9398475_9428528 | 9406510 | T | TCTTCCTC others(881): Show |
3_prime_UTR_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 236 | 0.0042 | 888 | c.*32 others(897): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 7/7 | 323 | chr2 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(881): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0270 | 1 | 5 | 0.2000 | 888 | c.-41 others(903): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KRT82_chr12_52388931_52411335 | 52409027 | C | CCTCTCCC others(881): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 1 | 4 | 0.2500 | 888 | c.-27 others(899): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2693 | chr12 | TogoVar | |||||||
LINGO2_chr9_27932617_29218601 | 28189685 | G | GAGGGAGG others(881): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0022 | 1 | 36 | 0.0278 | 888 | c.-36 others(909): Show |
LINGO2 | ENSG00000174482.11 | transcript | ENST00000698399.1 | protein_coding | 6/6 | chr9 | TogoVar | |||||||
LRRC24_chr8_144517388_144532033 | 144531174 | T | TGAAGGGC others(881): Show |
upstream_gene_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 388 | 0.0026 | 888 | c.-42 others(899): Show |
LRRC24 | ENSG00000254402.7 | transcript | ENST00000529415.7 | protein_coding | 4142 | chr8 | TogoVar | |||||||
LRRC24_chr8_144517388_144532033 | 144531191 | A | AGAGCAGC others(881): Show |
upstream_gene_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 234 | 0.0043 | 888 | c.-42 others(899): Show |
LRRC24 | ENSG00000254402.7 | transcript | ENST00000529415.7 | protein_coding | 4159 | chr8 | TogoVar | |||||||
LRRC24_chr8_144517388_144532033 | 144531191 | A | AGAGCAGC others(881): Show |
upstream_gene_variant | MODIFIER | HG01358.hp1 HG01361.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 2 | 235 | 0.0085 | 888 | c.-42 others(899): Show |
LRRC24 | ENSG00000254402.7 | transcript | ENST00000529415.7 | protein_coding | 4159 | chr8 | TogoVar | |||||||
LRRC24_chr8_144517388_144532033 | 144531191 | A | GGAGCAGC others(881): Show |
upstream_gene_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 234 | 0.0043 | 888 | c.-42 others(898): Show |
LRRC24 | ENSG00000254402.7 | transcript | ENST00000529415.7 | protein_coding | 4158 | chr8 | TogoVar | |||||||
LUC7L_chr16_183990_234449 | 186170 | G | GGAGGAAC others(881): Show |
downstream_gene_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 247 | 0.0040 | 888 | c.*30 others(899): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2819 | chr16 | TogoVar | |||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(881): Show |
upstream_gene_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 125 | 0.0080 | 888 | c.-49 others(899): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | |||||||
MGRN1_chr16_4619826_4695972 | 4648804 | C | CGGGGGCT others(881): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0003 | a0001c0003t0031 | a0001c0003t0031g0017 | 1 | 327 | 0.0031 | 888 | c.89- others(903): Show |
MGRN1 | ENSG00000102858.13 | transcript | ENST00000262370.12 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MLC1_chr22_50054391_50090426 | 50057640 | T | TGGGGTCA others(881): Show |
downstream_gene_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 114 | 0.0088 | 888 | c.*39 others(899): Show |
MLC1 | ENSG00000100427.16 | transcript | ENST00000311597.10 | protein_coding | 1750 | chr22 | TogoVar | |||||||
MPPED1_chr22_43407014_43512848 | 43499923 | G | GTGGTGGT others(881): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 a0001c0001t0001g0143 |
2 | 215 | 0.0093 | 888 | c.748 others(905): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
NPHP4_chr1_5857811_5997425 | 5977904 | A | AGAAGAGA others(881): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0161 | 1 | 4 | 0.2500 | 888 | c.279 others(903): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | TogoVar | |||||||
NXN_chr17_794310_984776 | 841445 | C | CACCCTGA others(881): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0141 | 1 | 160 | 0.0063 | 888 | c.361 others(907): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar |