| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| REEP6_chr19_1486181_1502927 | 1500849 | A | AGGGGAAG others(339): Show |
downstream_gene_variant | MODIFIER | HG01433.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002a0001c0001t0002g0080 | 2 | 318 | 0.0063 | 346 | c.*36 others(357): Show |
REEP6 | ENSG00000115255.12 | transcript | ENST00000233596.8 | protein_coding | 2923 | chr19 | TogoVar | ||||||
| RELL1_chr4_37605634_37691376 | 37625308 | G | GGACAATG others(339): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0224 | 1 | 324 | 0.0031 | 346 | c.*3+ others(361): Show |
RELL1 | ENSG00000181826.10 | transcript | ENST00000454158.7 | protein_coding | 6/6 | chr4 | TogoVar | ||||||
| RIOK2_chr5_97155867_97188247 | 97180004 | T | TAATATAT others(339): Show |
intron_variant | MODIFIER | NA18953.hp1 | a0004 | a0004c0005 | a0004c0005t0006 | a0004c0005t0006g0211 | 1 | 410 | 0.0024 | 346 | c.67- others(359): Show |
RIOK2 | ENSG00000058729.11 | transcript | ENST00000283109.8 | protein_coding | 1/9 | chr5 | TogoVar | ||||||
| RNF17_chr13_24759169_24884921 | 24881982 | A | ATATAGAT others(339): Show |
downstream_gene_variant | MODIFIER | HG01934.hp1 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0173 | 1 | 426 | 0.0024 | 346 | c.*22 others(357): Show |
RNF17 | ENSG00000132972.19 | transcript | ENST00000255324.10 | protein_coding | 2062 | chr13 | TogoVar | ||||||
| RPH3AL_chr17_207389_357807 | 304161 | G | GATGGGGA others(339): Show |
intron_variant | MODIFIER | HG01167.hp1 HG02738.hp2 |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0005a0002c0005t0023 | a0001c0001t0005g0100a0002c0005t0023g0125 | 2 | 133 | 0.0150 | 346 | c.351 others(365): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
| RPH3AL_chr17_207389_357807 | 304161 | G | GATGGGGA others(339): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0034 | 1 | 133 | 0.0075 | 346 | c.351 others(365): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
| RSU1_chr10_16585611_16822424 | 16645918 | A | ACATATAT others(339): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0003 | a0001c0003t0051 | a0001c0003t0051g0159 | 1 | 190 | 0.0053 | 346 | c.731 others(365): Show |
RSU1 | ENSG00000148484.18 | transcript | ENST00000345264.10 | protein_coding | 8/8 | chr10 | TogoVar | ||||||
| RTN4IP1_chr6_106565771_106634498 | 106599561 | T | TTGCATCT others(339): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0033 | 1 | 396 | 0.0025 | 346 | c.669 others(363): Show |
RTN4IP1 | ENSG00000130347.13 | transcript | ENST00000369063.8 | protein_coding | 5/8 | chr6 | TogoVar | ||||||
| RXRA_chr9_134321455_134445585 | 134444377 | C | CCCTCCTT others(339): Show |
downstream_gene_variant | MODIFIER | HG04204.hp2 HG04228.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0020a0001c0001t0005g0190 | 2 | 232 | 0.0086 | 346 | c.*77 others(357): Show |
RXRA | ENSG00000186350.12 | transcript | ENST00000481739.2 | protein_coding | 3793 | chr9 | TogoVar | ||||||
| RXRA_chr9_134321455_134445585 | 134444377 | C | CCCTCCTT others(339): Show |
downstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0023 | 1 | 232 | 0.0043 | 346 | c.*77 others(357): Show |
RXRA | ENSG00000186350.12 | transcript | ENST00000481739.2 | protein_coding | 3793 | chr9 | TogoVar | ||||||
| SATL1_chrX_85087284_85248779 | 85088155 | C | CATATTTA others(339): Show |
downstream_gene_variant | MODIFIER | NA18981.hp2 | a0008 | a0008c0011 | a0008c0011t0001 | a0008c0011t0001g0059 | 1 | 232 | 0.0043 | 346 | c.*42 others(357): Show |
SATL1 | ENSG00000184788.14 | transcript | ENST00000644105.2 | protein_coding | 4128 | chrX | TogoVar | ||||||
| SBNO2_chr19_1102638_1179268 | 1156927 | C | CAGGACCC others(339): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0000 | a0000c0009 | a0000c0009t0003 | a0000c0009t0003g0171 | 1 | 203 | 0.0049 | 346 | c.-12 others(365): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | ||||||
| SCNN1D_chr1_1275436_1297025 | 1284171 | G | GGGGGGTT others(339): Show |
intron_variant | MODIFIER | HG00544.hp2 NA18984.hp2 |
a0002 | a0002c0002a0002c0003 | a0002c0002t0001a0002c0003t0001 | a0002c0002t0001g0109a0002c0003t0001g0044 | 2 | 290 | 0.0069 | 346 | c.464 others(359): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SCNN1D_chr1_1275436_1297025 | 1288419 | T | TCCCCCGT others(339): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0034 | 1 | 290 | 0.0035 | 346 | c.166 others(363): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SEPTIN6_chrX_119611945_119698168 | 119683881 | T | TAAAACAT others(339): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0225 | 1 | 252 | 0.0040 | 346 | c.31- others(361): Show |
SEPTIN6 | ENSG00000125354.24 | transcript | ENST00000394610.7 | protein_coding | 1/10 | chrX | TogoVar | ||||||
| SERPINI1_chr3_167730721_167830569 | 167781089 | A | ACCCCCTT others(339): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0158 | 1 | 232 | 0.0043 | 346 | c.-18 others(363): Show |
SERPINI1 | ENSG00000163536.13 | transcript | ENST00000446050.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| SHISA9_chr16_12896598_13245416 | 13015951 | T | TTTCCCTT others(339): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0046 | a0001c0001t0046g0039 | 1 | 214 | 0.0047 | 346 | c.691 others(365): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| SIM1_chr6_100380009_100469921 | 100428628 | T | TAAGAATG others(339): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0071 | a0001c0001t0071g0010 | 1 | 320 | 0.0031 | 346 | c.999 others(363): Show |
SIM1 | ENSG00000112246.10 | transcript | ENST00000369208.8 | protein_coding | 9/11 | chr6 | TogoVar | ||||||
| SKI_chr1_2223319_2315213 | 2281855 | A | AGAGATGC others(339): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0207 | 1 | 330 | 0.0030 | 346 | c.970 others(365): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SLC12A7_chr5_1045384_1117063 | 1098676 | G | GCCCCCCT others(339): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0002 | a0002c0038 | a0002c0038t0014 | a0002c0038t0014g0118 | 1 | 118 | 0.0085 | 346 | c.125 others(363): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 1/23 | chr5 | TogoVar | ||||||
| SLC17A5_chr6_73588379_73658992 | 73632008 | T | TAAGAATG others(339): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0044 | 1 | 324 | 0.0031 | 346 | c.819 others(363): Show |
SLC17A5 | ENSG00000119899.13 | transcript | ENST00000355773.6 | protein_coding | 6/10 | chr6 | TogoVar | ||||||
| SLC22A23_chr6_3263973_3462050 | 3356090 | C | CGGGGGGG others(339): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0182 | 1 | 222 | 0.0045 | 346 | c.914 others(365): Show |
SLC22A23 | ENSG00000137266.15 | transcript | ENST00000406686.8 | protein_coding | 3/9 | chr6 | TogoVar | ||||||
| SLC25A18_chr22_17558498_17595995 | 17567654 | C | CTATCCTT others(339): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0030 | 1 | 410 | 0.0024 | 346 | c.-26 others(365): Show |
SLC25A18 | ENSG00000182902.14 | transcript | ENST00000327451.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| SLC26A3_chr7_107760469_107808223 | 107771958 | T | TAAAATAC others(339): Show |
intron_variant | MODIFIER | HG04204.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0244a0001c0001t0001g0253 | 2 | 436 | 0.0046 | 346 | c.206 others(361): Show |
SLC26A3 | ENSG00000091138.13 | transcript | ENST00000340010.10 | protein_coding | 18/20 | chr7 | TogoVar | ||||||
| SLC44A5_chr1_75197129_75616114 | 75280137 | T | TATATATA others(339): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0135 | 1 | 156 | 0.0064 | 346 | c.176 others(363): Show |
SLC44A5 | ENSG00000137968.17 | transcript | ENST00000370859.8 | protein_coding | 5/23 | chr1 | TogoVar | ||||||
| SLC44A5_chr1_75197129_75616114 | 75280137 | T | TATATATA others(339): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02257.hp2 HG02647.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0012 | a0001c0001t0001g0062a0001c0001t0001g0087a0001c0001t0003g0024others(6): Show | 9 | 156 | 0.0577 | 346 | c.176 others(363): Show |
SLC44A5 | ENSG00000137968.17 | transcript | ENST00000370859.8 | protein_coding | 5/23 | chr1 | TogoVar | ||||||
| SLC45A4_chr8_141202174_141313288 | 141203284 | A | AGAGAGAG others(339): Show |
downstream_gene_variant | MODIFIER | HG01496.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0128 | 1 | 188 | 0.0053 | 346 | c.*82 others(357): Show |
SLC45A4 | ENSG00000022567.10 | transcript | ENST00000517878.6 | protein_coding | 3889 | chr8 | TogoVar | ||||||
| SLC4A4_chr4_71182259_71577083 | 71333881 | T | TGCCAGGC others(339): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0096 | 1 | 152 | 0.0066 | 346 | c.254 others(363): Show |
SLC4A4 | ENSG00000080493.19 | transcript | ENST00000264485.11 | protein_coding | 3/25 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| SLC9A2_chr2_102614553_102716355 | 102680918 | G | GGGCCTCT others(339): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02723.hp2 HG03486.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(1): Show | a0001c0001t0001g0090a0001c0001t0002g0089a0001c0001t0002g0092others(3): Show | 6 | 344 | 0.0174 | 346 | c.100 others(365): Show |
SLC9A2 | ENSG00000115616.3 | transcript | ENST00000233969.3 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SLC9A2_chr2_102614553_102716355 | 102680918 | G | GGGCCTCT others(339): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 344 | 0.0029 | 346 | c.100 others(365): Show |
SLC9A2 | ENSG00000115616.3 | transcript | ENST00000233969.3 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SLC9C2_chr1_173495460_173608072 | 173547057 | T | TGACAATA others(339): Show |
intron_variant | MODIFIER | NA18999.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0131 | 1 | 316 | 0.0032 | 346 | c.155 others(363): Show |
SLC9C2 | ENSG00000162753.13 | transcript | ENST00000367714.4 | protein_coding | 13/27 | chr1 | TogoVar | ||||||
| SLCO1B1_chr12_21126194_21244796 | 21166661 | A | ACAAGAAC others(339): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0134 | 1 | 318 | 0.0031 | 346 | c.85- others(361): Show |
SLCO1B1 | ENSG00000134538.3 | transcript | ENST00000256958.3 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| SLIT2_chr4_20246905_20625561 | 20517480 | T | TGCCTTAT others(339): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0003 | a0003c0017 | a0003c0017t0001 | a0003c0017t0001g0040 | 1 | 230 | 0.0044 | 346 | c.105 others(365): Show |
SLIT2 | ENSG00000145147.20 | transcript | ENST00000504154.6 | protein_coding | 11/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| SNTG2_chr2_945849_1372613 | 1222488 | G | GCGGCGCA others(339): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0007 | a0007c0017 | a0007c0017t0001 | a0007c0017t0001g0118 | 1 | 190 | 0.0053 | 346 | c.719 others(365): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | chr2 | TogoVar | ||||||
| SNTG2_chr2_945849_1372613 | 1222577 | C | CGTCTCCC others(339): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0099 | 1 | 190 | 0.0053 | 346 | c.719 others(365): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SNX10_chr7_26286862_26379383 | 26311855 | T | TAAGATTT others(339): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 390 | 0.0026 | 346 | c.-24 others(365): Show |
SNX10 | ENSG00000086300.17 | transcript | ENST00000338523.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| SORCS3_chr10_104636290_105270242 | 104807121 | T | TGGACTGT others(339): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01257.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027a0001c0001t0001g0046 | 2 | 134 | 0.0149 | 346 | c.628 others(365): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| SPATA17_chr1_217626344_217876696 | 217740158 | A | AGGCCTTT others(339): Show |
intron_variant | MODIFIER | NA18612.hp2 NA18959.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0018 | a0001c0001t0001g0154a0001c0001t0018g0183 | 2 | 252 | 0.0079 | 346 | c.396 others(363): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SQLE_chr8_124993505_125027283 | 125011861 | A | AGAGAAGG others(339): Show |
intron_variant | MODIFIER | HG03710.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176a0001c0001t0001g0186 | 2 | 378 | 0.0053 | 346 | c.120 others(363): Show |
SQLE | ENSG00000104549.12 | transcript | ENST00000265896.10 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| SRP54_chr14_34977992_35034567 | 35009343 | G | GCCACACA others(339): Show |
intron_variant | MODIFIER | HG00423.hp2 HG02683.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0180a0001c0001t0003g0206a0001c0001t0003g0214 | 3 | 396 | 0.0076 | 346 | c.485 others(361): Show |
SRP54 | ENSG00000100883.13 | transcript | ENST00000216774.11 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| ST6GALNAC5_chr1_76862480_77072546 | 77003279 | T | TTAAAGTC others(339): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0146 | 1 | 202 | 0.0050 | 346 | c.262 others(365): Show |
ST6GALNAC5 | ENSG00000117069.15 | transcript | ENST00000477717.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ST6GALNAC5_chr1_76862480_77072546 | 77003279 | T | TTAAAGTC others(339): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0009 | 1 | 202 | 0.0050 | 346 | c.262 others(365): Show |
ST6GALNAC5 | ENSG00000117069.15 | transcript | ENST00000477717.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ST6GALNAC5_chr1_76862480_77072546 | 77003279 | T | TTAAAGTC others(339): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01256.hp1 HG02004.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0027a0001c0001t0001g0142a0001c0001t0002g0016others(9): Show | 12 | 202 | 0.0594 | 346 | c.262 others(365): Show |
ST6GALNAC5 | ENSG00000117069.15 | transcript | ENST00000477717.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ST6GALNAC5_chr1_76862480_77072546 | 77003279 | T | TTAAAGTC others(339): Show |
intron_variant | MODIFIER | HG02523.hp1 NA18950.hp2 NA18971.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0022 | a0001c0001t0002g0088a0001c0001t0002g0093a0001c0001t0002g0128others(1): Show | 4 | 202 | 0.0198 | 346 | c.262 others(365): Show |
ST6GALNAC5 | ENSG00000117069.15 | transcript | ENST00000477717.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| STPG4_chr2_47081991_47160308 | 47092141 | T | TGCATTTT others(339): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0301 | 1 | 352 | 0.0028 | 346 | c.520 others(363): Show |
STPG4 | ENSG00000239605.11 | transcript | ENST00000445927.7 | protein_coding | 5/6 | chr2 | TogoVar | ||||||
| SUMF1_chr3_4356146_4472269 | 4456822 | G | GTATATAT others(339): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0002 | a0001c0002t0015 | a0001c0002t0015g0131 | 1 | 392 | 0.0026 | 346 | c.271 others(363): Show |
SUMF1 | ENSG00000144455.14 | transcript | ENST00000272902.10 | protein_coding | 1/8 | chr3 | TogoVar | ||||||
| SUMF1_chr3_4356146_4472269 | 4456822 | G | GTATATAT others(339): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0365 | 1 | 392 | 0.0026 | 346 | c.271 others(363): Show |
SUMF1 | ENSG00000144455.14 | transcript | ENST00000272902.10 | protein_coding | 1/8 | chr3 | TogoVar | ||||||
| SYN2_chr3_11999388_12197032 | 12095548 | A | AAAAAAAA others(339): Show |
intron_variant | MODIFIER | NA19057.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0060 | 1 | 264 | 0.0038 | 346 | c.378 others(365): Show |
SYN2 | ENSG00000157152.17 | transcript | ENST00000621198.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| SYNPR_chr3_63273308_63621924 | 63313900 | C | CATATATA others(339): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0034 | 1 | 246 | 0.0041 | 346 | c.84+ others(363): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| SYNPR_chr3_63273308_63621924 | 63555274 | A | AAGAAAAA others(339): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG00735.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0001g0097a0001c0001t0003g0088a0001c0001t0007g0131others(2): Show | 5 | 246 | 0.0203 | 346 | c.210 others(363): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |