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 | 240923662 | T | TCCCCCAC others(881): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0264 | 1 | 350 | 0.0029 | 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(55): Show |
a0001a0012a0015 | a0001c0001a0001c0035a0012c0033others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0035t0002others(2): Show | a0001c0001t0002g0002a0001c0001t0002g0016a0001c0001t0002g0017others(55): Show | 58 | 378 | 0.1534 | 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 | a0001c0001t0002g0183a0001c0001t0004g0184 | 2 | 378 | 0.0053 | 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 | a0001c0001t0002g0186 | 1 | 378 | 0.0027 | 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 | a0004c0004t0001g0310 | 1 | 378 | 0.0027 | 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 | a0001c0003t0001g0244a0001c0003t0001g0245 | 2 | 288 | 0.0069 | 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 | 248 | 0.0040 | 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 | a0001c0001t0001g0129a0001c0001t0001g0130a0001c0001t0002g0251others(1): Show | 4 | 292 | 0.0137 | 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 | 292 | 0.0034 | 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 | 292 | 0.0034 | 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 | a0001c0001t0001g0338 | 1 | 344 | 0.0029 | 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 | 46 | 0.0217 | 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 | 46 | 0.0217 | 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 | a0001c0001t0010g0368a0002c0003t0001g0370 | 2 | 388 | 0.0052 | 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 | 96 | 0.0104 | 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 | 366 | 0.0027 | 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 | a0001c0001t0210 | a0001c0001t0210g0186 | 1 | 276 | 0.0036 | 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 | a0002c0002t0002g0259 | 1 | 312 | 0.0032 | 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 | 370 | 0.0027 | 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 | a0001c0001t0032g0023 | 1 | 62 | 0.0161 | 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 | 398 | 0.0025 | 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 | 398 | 0.0025 | 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 | 398 | 0.0050 | 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 | 398 | 0.0025 | 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 | a0001c0001t0001g0161 | 1 | 350 | 0.0029 | 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 | a0001c0001t0001g0006 | 1 | 318 | 0.0031 | 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 | a0001c0003t0038 | a0001c0003t0038g0018 | 1 | 334 | 0.0030 | 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 | 212 | 0.0047 | 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 | a0001c0001t0001g0140a0001c0001t0001g0141 | 2 | 250 | 0.0080 | 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 | 208 | 0.0048 | 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 | 242 | 0.0041 | 888 | c.361 others(907): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
PARVB_chr22_44019302_44177939 | 44112686 | G | GGATACAT others(881): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0075 | a0001c0001t0075g0095 | 1 | 332 | 0.0030 | 888 | c.274 others(905): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PIEZO1_chr16_88710338_88790220 | 88731952 | T | TGGGGAGG others(881): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02886.hp1 |
a0007a0091 | a0007c0014a0091c0146 | a0007c0014t0003a0091c0146t0003 | a0007c0014t0003g0025a0091c0146t0003g0019 | 2 | 282 | 0.0071 | 888 | c.299 others(903): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | ||||||
PITPNM1_chr11_67486768_67510363 | 67499576 | T | TCCATCCA others(881): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0106 | 1 | 300 | 0.0033 | 888 | c.117 others(905): Show |
PITPNM1 | ENSG00000110697.13 | transcript | ENST00000356404.8 | protein_coding | 8/23 | chr11 | TogoVar | ||||||
PITPNM1_chr11_67486768_67510363 | 67499576 | T | TCCATCCA others(881): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01255.hp1 HG01928.hp2 others(24): Show |
a0001a0012 | a0001c0001a0001c0015a0012c0017 | a0001c0001t0001a0001c0001t0002a0001c0015t0001others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0040others(5): Show | 27 | 300 | 0.0900 | 888 | c.117 others(905): Show |
PITPNM1 | ENSG00000110697.13 | transcript | ENST00000356404.8 | protein_coding | 8/23 | chr11 | TogoVar | ||||||
PITPNM1_chr11_67486768_67510363 | 67499576 | T | TCCATCCA others(881): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 300 | 0.0033 | 888 | c.117 others(905): Show |
PITPNM1 | ENSG00000110697.13 | transcript | ENST00000356404.8 | protein_coding | 8/23 | chr11 | TogoVar | ||||||
PITPNM1_chr11_67486768_67510363 | 67499576 | T | TCCATCCA others(881): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 300 | 0.0033 | 888 | c.117 others(905): Show |
PITPNM1 | ENSG00000110697.13 | transcript | ENST00000356404.8 | protein_coding | 8/23 | chr11 | TogoVar | ||||||
PNPLA7_chr9_137454952_137555402 | 137502728 | C | CGGGGGGG others(881): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0039 | a0001c0039t0001 | a0001c0039t0001g0007 | 1 | 188 | 0.0053 | 888 | c.147 others(907): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | ||||||
POLG_chr15_89311320_89339824 | 89325057 | A | AGAGTGAG others(881): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0202 | 1 | 398 | 0.0025 | 888 | c.194 others(905): Show |
POLG | ENSG00000140521.18 | transcript | ENST00000268124.11 | protein_coding | 10/22 | chr15 | TogoVar | ||||||
RAB39B_chrX_155253235_155269491 | 155257645 | T | TTCCCTAG others(881): Show |
downstream_gene_variant | MODIFIER | HG02451.hp1 HG03195.hp2 HG03486.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0018 | a0001c0001t0001g0025a0001c0001t0008g0012a0001c0001t0018g0030 | 4 | 292 | 0.0137 | 888 | c.*31 others(899): Show |
RAB39B | ENSG00000155961.5 | transcript | ENST00000369454.4 | protein_coding | 589 | chrX | TogoVar | ||||||
RBFOX3_chr17_79084345_79616051 | 79554353 | C | CACCTGGC others(881): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0022 | 1 | 154 | 0.0065 | 888 | c.-32 others(909): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 1/14 | chr17 | TogoVar | ||||||
RBFOX3_chr17_79084345_79616051 | 79554427 | C | CACCTGGC others(881): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02723.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008 | a0001c0001t0004g0095a0001c0001t0008g0096 | 2 | 154 | 0.0130 | 888 | c.-32 others(909): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 1/14 | chr17 | TogoVar | ||||||
RBFOX3_chr17_79084345_79616051 | 79554464 | C | CACCTGGC others(881): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 154 | 0.0065 | 888 | c.-32 others(909): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 1/14 | chr17 | TogoVar | ||||||
ROBO2_chr3_77035099_77654964 | 77323000 | T | TTATATTA others(881): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0136 | 1 | 160 | 0.0063 | 888 | c.389 others(909): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
RYR1_chr19_38428691_38592564 | 38554325 | A | ACCTGTAA others(881): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0201 | 1 | 218 | 0.0046 | 888 | c.122 others(909): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
SCNN1D_chr1_1275436_1297025 | 1289872 | T | TCCCGTGT others(881): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0083 | 1 | 290 | 0.0035 | 888 | c.166 others(905): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(881): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0002 | a0002c0005 | a0002c0005t0003 | a0002c0005t0003g0378 | 1 | 420 | 0.0024 | 888 | c.107 others(905): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168659615 | A | AGGTTGGG others(881): Show |
intron_variant | MODIFIER | HG03209.hp2 HG03225.hp1 |
a0001 | a0001c0007a0001c0011 | a0001c0007t0005a0001c0011t0006 | a0001c0007t0005g0050a0001c0011t0006g0167 | 2 | 180 | 0.0111 | 888 | c.128 others(907): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SPAAR_chr9_35904490_35916686 | 35913714 | G | GTGTGTGT others(881): Show |
downstream_gene_variant | MODIFIER | HG02257.hp1 HG02451.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0002 | 2 | 420 | 0.0048 | 888 | c.*30 others(899): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2029 | chr9 | TogoVar | ||||||
TCF3_chr19_1604292_1657615 | 1628805 | C | CAGGGGAT others(881): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0002 | a0001c0002t0078 | a0001c0002t0078g0189 | 1 | 352 | 0.0028 | 888 | c.299 others(905): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar |