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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RCHY1_chr4_75474033_75519403 | 75487811 | A | AATATATA others(88): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0087 | 1 | 406 | 0.0025 | 95 | c.657 others(112): Show |
RCHY1 | ENSG00000163743.14 | transcript | ENST00000324439.10 | protein_coding | 8/8 | chr4 | TogoVar | |||||||
RFLNA_chr12_124290093_124321024 | 124296190 | T | TTTTCTTT others(88): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015 | 1 | 388 | 0.0026 | 95 | c.207 others(110): Show |
RFLNA | ENSG00000178882.15 | transcript | ENST00000546355.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
RFLNA_chr12_124290093_124321024 | 124296190 | T | TTTTCTTT others(88): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0012 | 1 | 388 | 0.0026 | 95 | c.207 others(110): Show |
RFLNA | ENSG00000178882.15 | transcript | ENST00000546355.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
RFTN1_chr3_16310845_16518699 | 16404056 | T | TTATATAT others(88): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0023 | 1 | 268 | 0.0037 | 95 | c.441 others(112): Show |
RFTN1 | ENSG00000131378.14 | transcript | ENST00000334133.9 | protein_coding | 4/9 | chr3 | TogoVar | |||||||
RGS12_chr4_3288021_3444913 | 3341637 | A | AGGGGAGG others(88): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02109.hp2 HG02280.hp1 others(4): Show |
a0001a0015a0022 | a0001c0002a0001c0004a0015c0059others(1): Show | a0001c0002t0001a0001c0004t0001a0015c0059t0001others(1): Show | a0001c0002t0001g0100 a0001c0002t0001g0143 a0001c0002t0001g0144 others(4): Show |
7 | 312 | 0.0224 | 95 | c.188 others(114): Show |
RGS12 | ENSG00000159788.20 | transcript | ENST00000336727.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RGS20_chr8_53846795_53964303 | 53947196 | C | CGCTATAT others(88): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0025 | 1 | 258 | 0.0039 | 95 | c.743 others(110): Show |
RGS20 | ENSG00000147509.14 | transcript | ENST00000297313.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RNF111_chr15_58982663_59102419 | 59053157 | C | CTCAGTAA others(88): Show |
intron_variant | MODIFIER | NA18956.hp1 NA19058.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0115 a0001c0001t0006g0116 |
2 | 330 | 0.0061 | 95 | c.100 others(112): Show |
RNF111 | ENSG00000157450.16 | transcript | ENST00000348370.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RPA3_chr7_7631518_7723607 | 7679474 | T | TTATATAT others(88): Show |
intron_variant | MODIFIER | HG01928.hp1 HG01934.hp2 HG02132.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0105 a0001c0001t0001g0121 a0001c0001t0001g0136 others(6): Show |
9 | 308 | 0.0292 | 95 | c.-75 others(114): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 334502 | A | AACAAGGA others(88): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0120 | 1 | 133 | 0.0075 | 95 | c.-21 others(112): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
RPS6KA6_chrX_84053350_84193199 | 84150852 | T | TATATAGA others(88): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00639.hp2 HG00673.hp1 others(49): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0007a0002c0002t0009others(13): Show | a0002c0002t0003g0003 a0002c0002t0003g0030 a0002c0002t0003g0040 others(48): Show |
52 | 272 | 0.1912 | 95 | c.259 others(112): Show |
RPS6KA6 | ENSG00000072133.12 | transcript | ENST00000262752.5 | protein_coding | 3/21 | chrX | TogoVar | |||||||
RPSA2_chr19_23758004_23833868 | 23761910 | T | TTCTTTCT others(88): Show |
upstream_gene_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0016 | 1 | 366 | 0.0027 | 95 | c.-15 others(106): Show |
RPSA2 | ENSG00000288920.1 | transcript | ENST00000484897.4 | protein_coding | 1093 | chr19 | TogoVar | |||||||
RPTOR_chr17_80539838_80971368 | 80665331 | C | CCCTTTCC others(88): Show |
intron_variant | MODIFIER | HG03831.hp2 NA19011.hp1 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0010a0001c0004t0033 | a0001c0003t0010g0069 a0001c0004t0033g0023 |
2 | 196 | 0.0102 | 95 | c.348 others(114): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 3/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RREB1_chr6_7102961_7256980 | 7103356 | C | CATATAAT others(88): Show |
upstream_gene_variant | MODIFIER | HG01169.hp1 HG02615.hp2 HG03688.hp2 others(1): Show |
a0004a0009 | a0004c0005a0004c0008a0009c0020 | a0004c0005t0024a0004c0008t0006a0009c0020t0006 | a0004c0005t0024g0289 a0004c0005t0024g0290 a0004c0008t0006g0274 others(1): Show |
4 | 292 | 0.0137 | 95 | c.-49 others(106): Show |
RREB1 | ENSG00000124782.21 | transcript | ENST00000379938.7 | protein_coding | 4604 | chr6 | TogoVar | |||||||
RTL4_chrX_112078016_112462514 | 112310397 | T | TATATATA others(88): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0003 | a0003c0004 | a0003c0004t0006 | a0003c0004t0006g0039 | 1 | 134 | 0.0075 | 95 | c.-28 others(114): Show |
RTL4 | ENSG00000187823.4 | transcript | ENST00000695839.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
RTN1_chr14_59590983_59875776 | 59750205 | A | ATATAATA others(88): Show |
intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 172 | 0.0058 | 95 | c.242 others(112): Show |
RTN1 | ENSG00000139970.18 | transcript | ENST00000267484.10 | protein_coding | 1/8 | chr14 | TogoVar | |||||||
RXFP2_chr13_31734526_31808389 | 31759375 | G | GAGAAAGA others(88): Show |
intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0343 | 1 | 386 | 0.0026 | 95 | c.241 others(112): Show |
RXFP2 | ENSG00000133105.8 | transcript | ENST00000298386.7 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
RXFP2_chr13_31734526_31808389 | 31759375 | G | GAGAAAGA others(88): Show |
intron_variant | MODIFIER | HG02723.hp1 HG03710.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0101 a0001c0002t0002g0273 |
2 | 386 | 0.0052 | 95 | c.241 others(112): Show |
RXFP2 | ENSG00000133105.8 | transcript | ENST00000298386.7 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
RXFP2_chr13_31734526_31808389 | 31759375 | G | GAGAAAGA others(88): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0377 | 1 | 386 | 0.0026 | 95 | c.241 others(112): Show |
RXFP2 | ENSG00000133105.8 | transcript | ENST00000298386.7 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SCAMP1_chr5_78355617_78485739 | 78448103 | T | TCTCCCCC others(88): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01496.hp1 HG02109.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0010a0001c0001t0022others(1): Show | a0001c0001t0006g0006 a0001c0001t0006g0127 a0001c0001t0006g0134 others(8): Show |
11 | 332 | 0.0331 | 95 | c.633 others(112): Show |
SCAMP1 | ENSG00000085365.18 | transcript | ENST00000621999.5 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SCAMP1_chr5_78355617_78485739 | 78460820 | C | CCTTCCTT others(88): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01074.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 a0001c0001t0001g0232 |
2 | 332 | 0.0060 | 95 | c.852 others(112): Show |
SCAMP1 | ENSG00000085365.18 | transcript | ENST00000621999.5 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SCAMP1_chr5_78355617_78485739 | 78460820 | C | CCTTCCTT others(88): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 | 1 | 332 | 0.0030 | 95 | c.852 others(112): Show |
SCAMP1 | ENSG00000085365.18 | transcript | ENST00000621999.5 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SCAMP1_chr5_78355617_78485739 | 78460820 | C | CCTTCTTT others(88): Show |
intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0245 | 1 | 332 | 0.0030 | 95 | c.852 others(112): Show |
SCAMP1 | ENSG00000085365.18 | transcript | ENST00000621999.5 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SCAMP1_chr5_78355617_78485739 | 78460820 | C | CTTTCTTT others(88): Show |
intron_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0259 | 1 | 332 | 0.0030 | 95 | c.852 others(112): Show |
SCAMP1 | ENSG00000085365.18 | transcript | ENST00000621999.5 | protein_coding | 8/8 | chr5 | TogoVar | |||||||
SCAMP5_chr15_74990563_75026495 | 74990964 | T | TTTTTTTC others(88): Show |
upstream_gene_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 370 | 0.0027 | 95 | c.-47 others(106): Show |
SCAMP5 | ENSG00000198794.12 | transcript | ENST00000425597.8 | protein_coding | 4598 | chr15 | TogoVar | |||||||
SCARA5_chr8_27864883_27997673 | 27919210 | A | AAGAGGAT others(88): Show |
intron_variant | MODIFIER | HG03139.hp1 NA19087.hp2 |
a0001 | a0001c0002 | a0001c0002t0007a0001c0002t0065 | a0001c0002t0007g0089 a0001c0002t0065g0313 |
2 | 314 | 0.0064 | 95 | c.916 others(112): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4/8 | chr8 | TogoVar | |||||||
SCD5_chr4_82624539_82803796 | 82712297 | T | TATATATA others(88): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0002 | 1 | 210 | 0.0048 | 95 | c.233 others(112): Show |
SCD5 | ENSG00000145284.12 | transcript | ENST00000319540.9 | protein_coding | 1/4 | chr4 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43339802 | T | TCCCCCAC others(88): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 |
a0005 | a0005c0016 | a0005c0016t0005a0005c0016t0022 | a0005c0016t0005g0021 a0005c0016t0022g0020 |
2 | 280 | 0.0071 | 95 | c.89- others(108): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43339807 | C | CCACTCTC others(88): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0053 | a0001c0053t0015 | a0001c0053t0015g0013 | 1 | 280 | 0.0036 | 95 | c.89- others(108): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | |||||||
SEC61G_chr7_54747253_54764211 | 54749390 | G | GAAAATGT others(88): Show |
downstream_gene_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 406 | 0.0025 | 95 | c.*30 others(106): Show |
SEC61G | ENSG00000132432.14 | transcript | ENST00000352861.9 | protein_coding | 2862 | chr7 | TogoVar | |||||||
SFT2D1_chr6_166314728_166347545 | 166343193 | G | GGAGTATG others(88): Show |
upstream_gene_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0175 | 1 | 388 | 0.0026 | 95 | c.-71 others(104): Show |
SFT2D1 | ENSG00000198818.10 | transcript | ENST00000361731.4 | protein_coding | 649 | chr6 | TogoVar | |||||||
SGIP1_chr1_66529153_66756139 | 66630833 | A | AAGAAAGA others(88): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0012 | 1 | 302 | 0.0033 | 95 | c.75- others(110): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SHC2_chr19_411589_466033 | 434454 | T | TCGTGAGT others(88): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0071 | 1 | 212 | 0.0047 | 95 | c.111 others(112): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | |||||||
SHROOM2_chrX_9781429_9954443 | 9791969 | G | GAGAATAG others(88): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0028 | 1 | 256 | 0.0039 | 95 | c.165 others(112): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SHROOM2_chrX_9781429_9954443 | 9792159 | T | TAGAATAG others(88): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0108 | 1 | 256 | 0.0039 | 95 | c.165 others(112): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SIGIRR_chr11_400716_419999 | 401160 | A | ACCCCCCG others(88): Show |
downstream_gene_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 242 | 0.0041 | 95 | c.*47 others(106): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 4555 | chr11 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 401670 | A | ACACCCGC others(88): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 242 | 0.0041 | 95 | c.*42 others(106): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 4045 | chr11 | TogoVar | |||||||
SLAIN1_chr13_77692687_77769229 | 77704003 | C | CATATGTT others(88): Show |
intron_variant | MODIFIER | HG02615.hp2 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 a0001c0001t0001g0029 |
2 | 300 | 0.0067 | 95 | c.626 others(112): Show |
SLAIN1 | ENSG00000139737.23 | transcript | ENST00000418532.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SLC12A7_chr5_1045384_1117063 | 1070432 | G | GCCCCCAG others(88): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0002 | a0002c0025 | a0002c0025t0004 | a0002c0025t0004g0061 | 1 | 118 | 0.0085 | 95 | c.224 others(114): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1070822 | C | CAGCCCCC others(88): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0044 | 1 | 118 | 0.0085 | 95 | c.224 others(114): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1071033 | G | GCCCCCAG others(88): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0007 | a0007c0030 | a0007c0030t0007 | a0007c0030t0007g0012 | 1 | 118 | 0.0085 | 95 | c.224 others(114): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1071783 | G | GCCCCCAG others(88): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0044 | 1 | 118 | 0.0085 | 95 | c.224 others(114): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1071903 | T | TGCAGCCC others(88): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0004 | 1 | 118 | 0.0085 | 95 | c.224 others(114): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
SLC13A3_chr20_46552828_46656459 | 46600313 | G | GGGAAGGA others(88): Show |
intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0315 | 1 | 390 | 0.0026 | 95 | c.542 others(110): Show |
SLC13A3 | ENSG00000158296.14 | transcript | ENST00000279027.9 | protein_coding | 3/12 | chr20 | TogoVar | |||||||
SLC22A1_chr6_160116815_160163718 | 160152643 | A | ATTCTCTT others(88): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213 | 1 | 416 | 0.0024 | 95 | c.138 others(114): Show |
SLC22A1 | ENSG00000175003.15 | transcript | ENST00000366963.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SLC24A3_chr20_19207642_19727926 | 19346334 | A | ATATATAT others(88): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0002 | a0002c0007 | a0002c0007t0002 | a0002c0007t0002g0035 | 1 | 160 | 0.0063 | 95 | c.271 others(114): Show |
SLC24A3 | ENSG00000185052.13 | transcript | ENST00000328041.11 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SLC25A41_chr19_6421037_6438763 | 6429100 | T | TATATATA others(88): Show |
intron_variant | MODIFIER | HG03239.hp1 HG04228.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 2 | 350 | 0.0057 | 95 | c.624 others(110): Show |
SLC25A41 | ENSG00000181240.14 | transcript | ENST00000321510.7 | protein_coding | 4/6 | chr19 | TogoVar | |||||||
SLC25A44_chr1_156189104_156217796 | 156203392 | C | CCCAACTC others(88): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0003 | a0003c0006 | a0003c0006t0036 | a0003c0006t0036g0097 | 1 | 318 | 0.0031 | 95 | c.625 others(112): Show |
SLC25A44 | ENSG00000160785.14 | transcript | ENST00000359511.5 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC28A1_chr15_84879662_84950798 | 84928543 | T | TTTCTTTC others(88): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0072 | 1 | 396 | 0.0025 | 95 | c.108 others(114): Show |
SLC28A1 | ENSG00000156222.12 | transcript | ENST00000394573.6 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SLC28A1_chr15_84879662_84950798 | 84928575 | T | TTTCTCTC others(88): Show |
intron_variant | MODIFIER | NA18968.hp2 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0355 | 1 | 396 | 0.0025 | 95 | c.108 others(114): Show |
SLC28A1 | ENSG00000156222.12 | transcript | ENST00000394573.6 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SLC38A1_chr12_46178063_46274043 | 46178307 | C | CGTTGGGG others(88): Show |
downstream_gene_variant | MODIFIER | HG02723.hp2 | a0002 | a0002c0002 | a0002c0002t0024 | a0002c0002t0024g0147 | 1 | 330 | 0.0030 | 95 | c.*10 others(108): Show |
SLC38A1 | ENSG00000111371.16 | transcript | ENST00000398637.10 | protein_coding | 4755 | chr12 | TogoVar |