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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AMFR_chr16_56356452_56430545 | 56406096 | A | AGGGGGAG others(200): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0232 | 1 | 108 | 0.0093 | 207 | c.667 others(222): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 4/13 | chr16 | TogoVar | |||||||
ARHGEF10_chr8_1818926_1963641 | 1824808 | T | TCCCCCCG others(200): Show |
intron_variant | MODIFIER | NA19066.hp2 | a0002 | a0002c0124 | a0002c0124t0015 | a0002c0124t0015g0147 | 1 | 306 | 0.0033 | 207 | c.-48 others(222): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | chr8 | TogoVar | |||||||
ARHGEF10_chr8_1818926_1963641 | 1955098 | A | ATGGGTAG others(200): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0284 | 1 | 300 | 0.0033 | 207 | c.352 others(226): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 28/28 | chr8 | TogoVar | |||||||
ARL13B_chr3_93975155_94060678 | 94043545 | C | CCTCCCCC others(200): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 192 | 0.0052 | 207 | c.102 others(224): Show |
ARL13B | ENSG00000169379.17 | transcript | ENST00000394222.8 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130049797 | G | GGAACACA others(200): Show |
downstream_gene_variant | MODIFIER | HG01358.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0101 | 1 | 178 | 0.0056 | 207 | c.*49 others(218): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2306 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130050178 | T | TGGGGGCA others(200): Show |
downstream_gene_variant | MODIFIER | HG02040.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0032 | 1 | 240 | 0.0042 | 207 | c.*45 others(218): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 1925 | chr8 | TogoVar | |||||||
ASMT_chrX_1610059_1648081 | 1610077 | G | GTCCCCTA others(200): Show |
upstream_gene_variant | MODIFIER | HG01516.hp2 HG03704.hp2 NA18977.hp2 |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0002a0001c0003t0002a0002c0002t0002 | a0001c0001t0002g0195 a0001c0003t0002g0154 a0002c0002t0002g0199 |
3 | 186 | 0.0161 | 207 | c.-51 others(218): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 4981 | chrX | TogoVar | |||||||
ASPRV1_chr2_69955089_69966631 | 69956451 | G | GGAAGAAG others(200): Show |
downstream_gene_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 288 | 0.0035 | 207 | c.*42 others(218): Show |
ASPRV1 | ENSG00000244617.3 | transcript | ENST00000320256.6 | protein_coding | 3637 | chr2 | TogoVar | |||||||
ATOSA_chr15_52576321_52684388 | 52674205 | T | TAAGACCA others(200): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0117 | 1 | 347 | 0.0029 | 207 | c.16+ others(222): Show |
ATOSA | ENSG00000047346.13 | transcript | ENST00000619572.5 | protein_coding | 2/12 | chr15 | TogoVar | |||||||
ATP11A_chr13_112685038_112892168 | 112715448 | T | TCCCCACA others(200): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0003 | a0003c0007 | a0003c0007t0005 | a0003c0007t0005g0177 | 1 | 53 | 0.0189 | 207 | c.39+ others(224): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112715448 | T | TCCCCACA others(200): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(191): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0004others(31): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(96): Show | a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 others(191): Show |
194 | 246 | 0.7886 | 207 | c.39+ others(224): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112723285 | T | TCCCCACC others(200): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0077 | 1 | 5 | 0.2000 | 207 | c.39+ others(224): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP13A3_chr3_194397677_194492002 | 194421153 | A | ATAGTTTA others(200): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0025 a0001c0001t0004g0026 |
2 | 279 | 0.0072 | 207 | c.331 others(226): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 30/33 | chr3 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 835481 | T | TGCAGCCC others(200): Show |
downstream_gene_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0004 | 1 | 223 | 0.0045 | 207 | c.*36 others(218): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3464 | chr19 | TogoVar | |||||||
BAIAP2L1_chr7_98286650_98406090 | 98400363 | G | GGGAGGGA others(200): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0157 | 1 | 2 | 0.5000 | 207 | c.51+ others(220): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 1/13 | chr7 | TogoVar | |||||||
BAIAP2L1_chr7_98286650_98406090 | 98400363 | G | GGGAGGGA others(200): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0158 | 1 | 2 | 0.5000 | 207 | c.51+ others(220): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 1/13 | chr7 | TogoVar | |||||||
BAIAP2L1_chr7_98286650_98406090 | 98400363 | G | GGGAGGGA others(200): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0148 | 1 | 2 | 0.5000 | 207 | c.51+ others(220): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 1/13 | chr7 | TogoVar | |||||||
BAIAP2L1_chr7_98286650_98406090 | 98400363 | G | GGGAGGGA others(200): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0110 | 1 | 2 | 0.5000 | 207 | c.51+ others(220): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 1/13 | chr7 | TogoVar | |||||||
BCL11A_chr2_60452194_60558654 | 60467315 | A | ATGGTGGT others(200): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0018 | 1 | 246 | 0.0041 | 207 | c.487 others(224): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | |||||||
BCL11A_chr2_60452194_60558654 | 60467318 | G | GTGGTGAT others(200): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 250 | 0.0040 | 207 | c.487 others(224): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | |||||||
BRD4_chr19_15230519_15337539 | 15271909 | T | TACACACC others(200): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 HG03130.hp2 |
a0001 | a0001c0004 | a0001c0004t0024a0001c0004t0043 | a0001c0004t0024g0038 a0001c0004t0024g0040 a0001c0004t0043g0026 |
3 | 185 | 0.0162 | 207 | c.285 others(222): Show |
BRD4 | ENSG00000141867.19 | transcript | ENST00000679869.1 | protein_coding | 2/19 | chr19 | TogoVar | |||||||
C17orf67_chr17_56786913_56838920 | 56792891 | A | ATGGTGAT others(200): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00733.hp1 HG01123.hp1 others(41): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0002a0002c0002t0005a0003c0003t0016 | a0002c0002t0002g0008 a0002c0002t0002g0012 a0002c0002t0002g0013 others(28): Show |
44 | 286 | 0.1538 | 207 | c.*21 others(222): Show |
C17orf67 | ENSG00000214226.9 | transcript | ENST00000397861.7 | protein_coding | 7/7 | chr17 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1089920 | T | TAAAAATA others(200): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 NA18906.hp2 |
a0001a0008 | a0001c0001a0008c0007 | a0001c0001t0007a0008c0007t0008 | a0001c0001t0007g0159 a0001c0001t0007g0162 a0008c0007t0008g0161 |
3 | 323 | 0.0093 | 207 | c.129 others(226): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
CABLES2_chr20_62383634_62412285 | 62398076 | G | GTGGAGGT others(200): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0057 | 1 | 389 | 0.0026 | 207 | c.363 others(224): Show |
CABLES2 | ENSG00000149679.12 | transcript | ENST00000279101.10 | protein_coding | 1/9 | chr20 | TogoVar | |||||||
CADPS2_chr7_122313411_122891460 | 122705888 | A | ATATAATA others(200): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0054 | 1 | 97 | 0.0103 | 207 | c.453 others(226): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 2/29 | chr7 | TogoVar | |||||||
CADPS2_chr7_122313411_122891460 | 122705888 | A | ATATAATA others(200): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0056 | 1 | 97 | 0.0103 | 207 | c.453 others(226): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 2/29 | chr7 | TogoVar | |||||||
CADPS2_chr7_122313411_122891460 | 122705888 | A | ATATAATA others(200): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0017 | 1 | 97 | 0.0103 | 207 | c.453 others(226): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 2/29 | chr7 | TogoVar | |||||||
CAPN12_chr19_38725192_38749474 | 38736581 | A | AAGGGGCG others(200): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0003 | a0003c0005 | a0003c0005t0004 | a0003c0005t0004g0032 | 1 | 315 | 0.0032 | 207 | c.136 others(222): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 10/20 | chr19 | TogoVar | |||||||
CAPN15_chr16_522712_559636 | 544721 | C | CCTCCCCC others(200): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0198 | 1 | 291 | 0.0034 | 207 | c.-22 others(224): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CASQ2_chr1_115695021_115773714 | 115761458 | A | AAGAAGGG others(200): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0125 | 1 | 282 | 0.0035 | 207 | c.234 others(224): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 1/10 | chr1 | TogoVar | |||||||
CASQ2_chr1_115695021_115773714 | 115761458 | A | AGGAAGGG others(200): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0124 | 1 | 282 | 0.0035 | 207 | c.234 others(224): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 1/10 | chr1 | TogoVar | |||||||
CASQ2_chr1_115695021_115773714 | 115761497 | G | GAGAAGAA others(200): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0057 | 1 | 47 | 0.0213 | 207 | c.234 others(224): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 1/10 | chr1 | TogoVar | |||||||
CASQ2_chr1_115695021_115773714 | 115761497 | G | GGGAAGGG others(200): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0215 | 1 | 47 | 0.0213 | 207 | c.234 others(224): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 1/10 | chr1 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88980056 | A | ATGGGTGG others(200): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG00609.hp1 others(103): Show |
a0001a0006a0009 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(20): Show | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0013 others(102): Show |
106 | 278 | 0.3813 | 207 | c.-32 others(218): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 2850 | chr16 | TogoVar | |||||||
CDC42SE2_chr5_131259053_131399672 | 131278741 | C | CCCCCTCC others(200): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0032 | 1 | 12 | 0.0833 | 207 | c.-45 others(228): Show |
CDC42SE2 | ENSG00000158985.14 | transcript | ENST00000505065.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CDH13_chr16_82621969_83805640 | 83031167 | T | TATATACA others(200): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01261.hp1 HG01261.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0002t0002others(6): Show | a0001c0001t0002g0044 a0001c0001t0003g0010 a0001c0002t0002g0087 others(6): Show |
9 | 28 | 0.3214 | 207 | c.158 others(222): Show |
CDH13 | ENSG00000140945.17 | transcript | ENST00000567109.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CENPJ_chr13_24877279_24927861 | 24881964 | A | ATATAGAT others(200): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 NA19054.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0168 a0001c0002t0001g0171 |
2 | 416 | 0.0048 | 207 | c.*12 others(218): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 314 | chr13 | TogoVar | |||||||
CENPJ_chr13_24877279_24927861 | 24881964 | A | ATATAGAT others(200): Show |
downstream_gene_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0173 | 1 | 415 | 0.0024 | 207 | c.*12 others(218): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 314 | chr13 | TogoVar | |||||||
CENPJ_chr13_24877279_24927861 | 24881982 | A | ATATAGAT others(200): Show |
downstream_gene_variant | MODIFIER | NA18971.hp1 NA18989.hp1 NA19005.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0022 a0001c0002t0001g0134 a0001c0002t0001g0153 others(1): Show |
4 | 426 | 0.0094 | 207 | c.*11 others(218): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 296 | chr13 | TogoVar | |||||||
CEP72_chr5_607340_658553 | 649823 | G | GACTGTGA others(200): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0077 | 1 | 85 | 0.0118 | 207 | c.177 others(226): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | TogoVar | |||||||
CFAP47_chrX_35914734_36390317 | 35966350 | A | ATTAGCTG others(200): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0032 | a0032c0065 | a0032c0065t0001 | a0032c0065t0001g0148 | 1 | 212 | 0.0047 | 207 | c.141 others(224): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 8/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 35966350 | A | ATTAGCTG others(200): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0007 | a0007c0073 | a0007c0073t0001 | a0007c0073t0001g0139 | 1 | 212 | 0.0047 | 207 | c.141 others(224): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 8/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20296016 | T | TCCTTCCT others(200): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0002 | 1 | 230 | 0.0043 | 207 | c.321 others(226): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 24/26 | chr20 | TogoVar | |||||||
CFAP61_chr20_20047532_20365698 | 20320401 | G | GTAATATA others(200): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0060 | 1 | 150 | 0.0067 | 207 | c.342 others(228): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20320401 | G | GTAATATA others(200): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0024 | 1 | 150 | 0.0067 | 207 | c.342 others(228): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20320401 | G | GTAATATA others(200): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0224 | 1 | 150 | 0.0067 | 207 | c.342 others(228): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110481773 | T | TTGCTGGA others(200): Show |
intron_variant | MODIFIER | HG01192.hp1 HG06807.hp1 |
a0003 | a0003c0026 | a0003c0026t0001 | a0003c0026t0001g0032 a0003c0026t0001g0033 |
2 | 357 | 0.0056 | 207 | c.275 others(224): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 31/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110481773 | T | TTGCTGGA others(200): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0080 | 1 | 356 | 0.0028 | 207 | c.275 others(224): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 31/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110481803 | T | TTGCTGGA others(200): Show |
intron_variant | MODIFIER | NA18987.hp1 | a0002 | a0002c0017 | a0002c0017t0002 | a0002c0017t0002g0295 | 1 | 239 | 0.0042 | 207 | c.275 others(224): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 31/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89587744 | G | GCCCCCGT others(200): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0125 | 1 | 216 | 0.0046 | 207 | c.927 others(222): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |