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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MORN1_chr1_2316253_2396554 | 2325140 | C | CTTCCTTC others(3567): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 80 | 0.0125 | 3574 | c.125 others(3591): Show |
MORN1 | ENSG00000116151.14 | transcript | ENST00000378531.8 | protein_coding | 12/13 | chr1 | TogoVar | ||||||
ST6GAL1_chr3_186925526_187083553 | 186982842 | C | CAGCTAAT others(3567): Show |
intron_variant | MODIFIER | HG02280.hp2 NA20129.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0030a0001c0003t0025 | a0001c0002t0030g0153a0001c0003t0025g0302 | 2 | 362 | 0.0055 | 3574 | c.-18 others(3595): Show |
ST6GAL1 | ENSG00000073849.16 | transcript | ENST00000169298.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABR_chr17_998519_1184981 | 1064883 | T | TTATGTGA others(3568): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 337 | 0.0030 | 3575 | c.118 others(3594): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | ||||||
KRBA2_chr17_8353822_8381704 | 8370870 | A | AACAGAAA others(3568): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0084 | a0001c0001t0084g0082 | 1 | 388 | 0.0026 | 3575 | c.-20 others(3590): Show |
KRBA2 | ENSG00000184619.8 | transcript | ENST00000396267.3 | protein_coding | 1/1 | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20092293 | G | GGAAATCA others(3568): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0003 | a0003c0004 | a0003c0004t0034 | a0003c0004t0034g0082 | 1 | 250 | 0.0040 | 3575 | c.-21 others(3592): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DOCK8_chr9_209865_470255 | 400563 | T | TCACCACC others(3569): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0002 | a0002c0122 | a0002c0122t0002 | a0002c0122t0002g0232 | 1 | 256 | 0.0039 | 3576 | c.323 others(3595): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(3569): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0008 | a0008c0013 | a0008c0013t0005 | a0008c0013t0005g0010 | 1 | 282 | 0.0036 | 3576 | c.299 others(3591): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | ||||||
RGPD3_chr2_106398406_106473413 | 106467171 | A | ATCGAGGC others(3569): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0005 | a0005c0005 | a0005c0005t0018 | a0005c0005t0018g0231 | 1 | 382 | 0.0026 | 3576 | c.72+ others(3591): Show |
RGPD3 | ENSG00000153165.19 | transcript | ENST00000409886.4 | protein_coding | 1/22 | chr2 | TogoVar | ||||||
ST6GAL1_chr3_186925526_187083553 | 186982842 | C | CAGCTAAT others(3569): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0117 | 1 | 362 | 0.0028 | 3576 | c.-18 others(3597): Show |
ST6GAL1 | ENSG00000073849.16 | transcript | ENST00000169298.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
NT5M_chr17_17298373_17352663 | 17300347 | T | TAAGACTT others(3570): Show |
upstream_gene_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0149 | 1 | 348 | 0.0029 | 3577 | c.-32 others(3588): Show |
NT5M | ENSG00000205309.14 | transcript | ENST00000389022.9 | protein_coding | 3025 | chr17 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46366247 | G | GGGGCAGG others(3571): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0035 | a0035c0057 | a0035c0057t0001 | a0035c0057t0001g0093 | 1 | 104 | 0.0096 | 3578 | c.830 others(3595): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | TogoVar | ||||||
GALNT9_chr12_132191372_132334589 | 132242695 | A | ACACCCCC others(3571): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 183 | 0.0055 | 3578 | c.107 others(3597): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
MAN1B1_chr9_137081985_137114183 | 137102262 | T | TAGGTCGG others(3572): Show |
intron_variant | MODIFIER | HG01515.hp2 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0038 | 2 | 404 | 0.0050 | 3579 | c.125 others(3596): Show |
MAN1B1 | ENSG00000177239.16 | transcript | ENST00000371589.9 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
MAN1B1_chr9_137081985_137114183 | 137102262 | T | TAGGTCGG others(3572): Show |
intron_variant | MODIFIER | HG01516.hp2 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0036 | 2 | 404 | 0.0050 | 3579 | c.125 others(3596): Show |
MAN1B1 | ENSG00000177239.16 | transcript | ENST00000371589.9 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
RPH3AL_chr17_207389_357807 | 305109 | A | AGGGGGAC others(3572): Show |
intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0011 | 1 | 133 | 0.0075 | 3579 | c.351 others(3598): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322909 | T | TAATATAT others(3573): Show |
upstream_gene_variant | MODIFIER | NA19006.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 323 | 0.0031 | 3580 | c.-21 others(3591): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2060 | chr21 | TogoVar | ||||||
SLC38A10_chr17_81239811_81300307 | 81249360 | G | GATGAAGG others(3573): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0034 | 1 | 214 | 0.0047 | 3580 | c.206 others(3599): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | ||||||
MORN1_chr1_2316253_2396554 | 2325140 | C | CTCCCTCC others(3574): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009 | 1 | 80 | 0.0125 | 3581 | c.125 others(3598): Show |
MORN1 | ENSG00000116151.14 | transcript | ENST00000378531.8 | protein_coding | 12/13 | chr1 | TogoVar | ||||||
SDR42E2_chr16_22157506_22196751 | 22157546 | A | ACTCCCAA others(3574): Show |
upstream_gene_variant | MODIFIER | NA20905.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 356 | 0.0028 | 3581 | c.-50 others(3592): Show |
SDR42E2 | ENSG00000183921.8 | transcript | ENST00000602312.3 | protein_coding | 4959 | chr16 | TogoVar | ||||||
VWA3A_chr16_22087541_22161964 | 22157546 | A | ACTCCCAA others(3574): Show |
downstream_gene_variant | MODIFIER | NA20905.hp1 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0096 | 1 | 294 | 0.0034 | 3581 | c.*15 others(3592): Show |
VWA3A | ENSG00000175267.15 | transcript | ENST00000389398.10 | protein_coding | 583 | chr16 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322909 | T | TAATATAT others(3575): Show |
upstream_gene_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 323 | 0.0031 | 3582 | c.-21 others(3593): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2060 | chr21 | TogoVar | ||||||
MICAL3_chr22_17782649_18029561 | 17877099 | G | GGGAGGTT others(3575): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0161 | 1 | 274 | 0.0037 | 3582 | c.224 others(3601): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432120 | T | TAGGGTGG others(3575): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0112 | 1 | 376 | 0.0027 | 3582 | c.101 others(3599): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
TRPM2_chr21_44348621_44447644 | 44419564 | G | GTGGTGGT others(3575): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0012 | 1 | 44 | 0.0227 | 3582 | c.346 others(3601): Show |
TRPM2 | ENSG00000142185.18 | transcript | ENST00000397928.6 | protein_coding | 22/31 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
EHMT1_chr9_137614005_137841127 | 137721357 | T | TTCTCACA others(3576): Show |
intron_variant | MODIFIER | HG02717.hp2 HG03195.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0088a0001c0003t0001g0095 | 2 | 170 | 0.0118 | 3583 | c.642 others(3600): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 3/26 | chr9 | TogoVar | ||||||
GYPC_chr2_126651158_126701667 | 126691182 | C | CAAGGCCT others(3576): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 416 | 0.0024 | 3583 | c.106 others(3598): Show |
GYPC | ENSG00000136732.16 | transcript | ENST00000259254.9 | protein_coding | 2/3 | chr2 | TogoVar | ||||||
EIF3B_chr7_2349827_2385745 | 2377759 | T | TGTGTTCT others(3577): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 384 | 0.0026 | 3584 | c.215 others(3601): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
COL23A1_chr5_178232618_178595393 | 178585731 | C | CACAGCCC others(3578): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0209 | 1 | 236 | 0.0042 | 3585 | c.294 others(3602): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20092293 | G | GGAAATCA others(3578): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0003 | a0003c0007 | a0003c0007t0003 | a0003c0007t0003g0076 | 1 | 250 | 0.0040 | 3585 | c.-21 others(3602): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
TRPM2_chr21_44348621_44447644 | 44419564 | G | GTGGTGGT others(3578): Show |
intron_variant | MODIFIER | HG02004.hp1 HG02273.hp2 HG02293.hp2 others(2): Show |
a0003a0004a0005 | a0003c0007a0003c0014a0004c0005others(1): Show | a0003c0007t0003a0003c0014t0003a0004c0005t0003others(1): Show | a0003c0007t0003g0001a0003c0007t0003g0003a0003c0014t0003g0044others(2): Show | 5 | 44 | 0.1136 | 3585 | c.346 others(3604): Show |
TRPM2 | ENSG00000142185.18 | transcript | ENST00000397928.6 | protein_coding | 22/31 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
TRPM2_chr21_44348621_44447644 | 44419564 | G | GTGGTGGT others(3578): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0005 | a0005c0004 | a0005c0004t0001 | a0005c0004t0001g0032 | 1 | 44 | 0.0227 | 3585 | c.346 others(3604): Show |
TRPM2 | ENSG00000142185.18 | transcript | ENST00000397928.6 | protein_coding | 22/31 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
TRPM2_chr21_44348621_44447644 | 44419564 | G | GTGGTGGT others(3578): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 44 | 0.0227 | 3585 | c.346 others(3604): Show |
TRPM2 | ENSG00000142185.18 | transcript | ENST00000397928.6 | protein_coding | 22/31 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
TRPM2_chr21_44348621_44447644 | 44419564 | G | GTGGTGGT others(3578): Show |
intron_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0017 | 1 | 44 | 0.0227 | 3585 | c.346 others(3604): Show |
TRPM2 | ENSG00000142185.18 | transcript | ENST00000397928.6 | protein_coding | 22/31 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
TRPM2_chr21_44348621_44447644 | 44419564 | G | GTGGTGGT others(3578): Show |
intron_variant | MODIFIER | HG02698.hp1 HG04199.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015a0001c0001t0001g0020 | 2 | 44 | 0.0455 | 3585 | c.346 others(3604): Show |
TRPM2 | ENSG00000142185.18 | transcript | ENST00000397928.6 | protein_coding | 22/31 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
TRPM2_chr21_44348621_44447644 | 44419564 | G | GTGGTGGT others(3578): Show |
intron_variant | MODIFIER | HG02273.hp1 NA19012.hp2 |
a0001a0009 | a0001c0001a0009c0015 | a0001c0001t0002a0009c0015t0002 | a0001c0001t0002g0018a0009c0015t0002g0002 | 2 | 44 | 0.0455 | 3585 | c.346 others(3604): Show |
TRPM2 | ENSG00000142185.18 | transcript | ENST00000397928.6 | protein_coding | 22/31 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
TRPM2_chr21_44348621_44447644 | 44419564 | G | GTGGTGGT others(3578): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 44 | 0.0227 | 3585 | c.346 others(3604): Show |
TRPM2 | ENSG00000142185.18 | transcript | ENST00000397928.6 | protein_coding | 22/31 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
TRPM2_chr21_44348621_44447644 | 44419564 | G | GTGGTGGT others(3578): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01074.hp1 HG01099.hp1 others(9): Show |
a0001a0006 | a0001c0001a0001c0006a0001c0010others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0006a0001c0001t0001g0011a0001c0001t0001g0019others(9): Show | 12 | 44 | 0.2727 | 3585 | c.346 others(3604): Show |
TRPM2 | ENSG00000142185.18 | transcript | ENST00000397928.6 | protein_coding | 22/31 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
MLPH_chr2_237482251_237560322 | 237542804 | G | GGCACGGT others(3579): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0059 | 1 | 286 | 0.0035 | 3586 | c.153 others(3603): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | chr2 | TogoVar | ||||||
PAK2_chr3_196734857_196837647 | 196811338 | T | TTCCCTCC others(3579): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0073 | 1 | 178 | 0.0056 | 3586 | c.773 others(3601): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
FMN2_chr1_240086883_240480187 | 240185145 | C | CTTCCCCT others(3580): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0061 | a0061c0079 | a0061c0079t0004 | a0061c0079t0004g0100 | 1 | 174 | 0.0058 | 3587 | c.193 others(3606): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MYO5C_chr15_52187322_52300804 | 52255708 | T | TGAAATTG others(3580): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0061 | 1 | 360 | 0.0028 | 3587 | c.139 others(3604): Show |
MYO5C | ENSG00000128833.13 | transcript | ENST00000261839.12 | protein_coding | 11/40 | chr15 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20092293 | G | GGAAATCA others(3580): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0086 | 1 | 250 | 0.0040 | 3587 | c.-21 others(3604): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ST6GAL1_chr3_186925526_187083553 | 186982842 | C | CAGCTAAT others(3580): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0004 | a0001c0004t0071 | a0001c0004t0071g0064 | 1 | 362 | 0.0028 | 3587 | c.-18 others(3608): Show |
ST6GAL1 | ENSG00000073849.16 | transcript | ENST00000169298.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
TRPM2_chr21_44348621_44447644 | 44419564 | G | GTGGTGGT others(3581): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0008 | a0008c0009 | a0008c0009t0008 | a0008c0009t0008g0043 | 1 | 44 | 0.0227 | 3588 | c.346 others(3607): Show |
TRPM2 | ENSG00000142185.18 | transcript | ENST00000397928.6 | protein_coding | 22/31 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
TRPM2_chr21_44348621_44447644 | 44419564 | G | GTGGTGGT others(3581): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01074.hp2 HG01081.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0016others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(4): Show | a0001c0001t0001g0027a0001c0001t0001g0029a0001c0001t0001g0030others(10): Show | 13 | 44 | 0.2955 | 3588 | c.346 others(3607): Show |
TRPM2 | ENSG00000142185.18 | transcript | ENST00000397928.6 | protein_coding | 22/31 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
USP12_chr13_27061156_27176811 | 27063860 | G | GAGGGAAG others(3581): Show |
downstream_gene_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0045 | 1 | 167 | 0.0060 | 3588 | c.*54 others(3599): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2295 | chr13 | TogoVar | ||||||
F13A1_chr6_6139084_6325662 | 6262021 | G | GTGACCCT others(3582): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0074 | 1 | 292 | 0.0034 | 3589 | c.571 others(3606): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 4/14 | chr6 | TogoVar | ||||||
MYO5C_chr15_52187322_52300804 | 52255708 | T | TGAAATTG others(3582): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0224 | 1 | 360 | 0.0028 | 3589 | c.139 others(3606): Show |
MYO5C | ENSG00000128833.13 | transcript | ENST00000261839.12 | protein_coding | 11/40 | chr15 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 304161 | G | GATGGGGA others(3582): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0049 | 1 | 133 | 0.0075 | 3589 | c.351 others(3608): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
SLC38A10_chr17_81239811_81300307 | 81249456 | G | GAGGAGGG others(3582): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0111 | 1 | 214 | 0.0047 | 3589 | c.206 others(3608): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar |