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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NRDC_chr1_51784210_51883727 | 51852550 | G | GTTTTAAA others(487): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02922.hp2 HG02970.hp1 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0001 a0001c0003t0001g0036 a0001c0003t0001g0037 |
5 | 42 | 0.1190 | 494 | c.342 others(513): Show |
NRDC | ENSG00000078618.23 | transcript | ENST00000352171.12 | protein_coding | 1/30 | chr1 | TogoVar | |||||||
PDCD6_chr5_266646_319974 | 318252 | C | CCCCAATC others(487): Show |
downstream_gene_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 322 | 0.0031 | 494 | c.*37 others(505): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 3279 | chr5 | TogoVar | |||||||
PIGQ_chr16_564968_589109 | 571108 | T | TGTGTGTG others(487): Show |
intron_variant | MODIFIER | HG01258.hp1 NA18945.hp1 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0026 | 2 | 321 | 0.0062 | 494 | c.-10 others(511): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 1/10 | chr16 | TogoVar | |||||||
PIGQ_chr16_564968_589109 | 571109 | C | CTGGCTAG others(487): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0002 | a0002c0001 | a0002c0001t0017 | a0002c0001t0017g0309 | 1 | 11 | 0.0909 | 494 | c.-10 others(511): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PPFIA2_chr12_81252975_81764350 | 81642703 | T | TGTATCTA others(487): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 77 | 0.0130 | 494 | c.303 others(513): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 4/32 | chr12 | TogoVar | |||||||
PPP6R2_chr22_50338327_50450090 | 50397738 | A | AGTGTGAC others(487): Show |
intron_variant | MODIFIER | HG01884.hp2 HG03139.hp1 HG03453.hp1 |
a0001 | a0001c0008 | a0001c0008t0003 | a0001c0008t0003g0284 a0001c0008t0003g0292 a0001c0008t0003g0295 |
3 | 212 | 0.0142 | 494 | c.227 others(511): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PRKN_chr6_161342417_162732766 | 161350871 | T | TTTTTATA others(487): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0004 | a0004c0009 | a0004c0009t0010 | a0004c0009t0010g0031 | 1 | 17 | 0.0588 | 494 | c.128 others(511): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 11/11 | chr6 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 492360 | T | TCCTCCCG others(487): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0013 | 1 | 234 | 0.0043 | 494 | c.126 others(513): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 492363 | T | TCCCGGGA others(487): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0033 | 1 | 235 | 0.0043 | 494 | c.126 others(513): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAP1GAP2_chr17_2791438_3042741 | 2831059 | C | CTCCCCTC others(487): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0002 | a0002c0012 | a0002c0012t0046 | a0002c0012t0046g0093 | 1 | 10 | 0.1000 | 494 | c.80+ others(511): Show |
RAP1GAP2 | ENSG00000132359.17 | transcript | ENST00000254695.13 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RAP1GAP2_chr17_2791438_3042741 | 2831059 | C | CTCCCCTC others(487): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0002 | a0001c0002t0032 | a0001c0002t0032g0208 | 1 | 10 | 0.1000 | 494 | c.80+ others(511): Show |
RAP1GAP2 | ENSG00000132359.17 | transcript | ENST00000254695.13 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RASA3_chr13_113972783_114137623 | 114010811 | A | AGGGGGCC others(487): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 65 | 0.0154 | 494 | c.159 others(511): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 16/23 | chr13 | TogoVar | |||||||
RBFOX3_chr17_79084345_79616051 | 79555318 | G | GATGGAGA others(487): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00558.hp1 others(68): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0010 others(68): Show |
71 | 151 | 0.4702 | 494 | c.-32 others(515): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 1/14 | chr17 | TogoVar | |||||||
RGPD5_chr2_109789305_109862705 | 109794586 | G | GGGGGAGG others(487): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0024 | 1 | 39 | 0.0256 | 494 | c.72+ others(505): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
RTP5_chr2_241864729_241878823 | 241877949 | T | TGCTCCCC others(487): Show |
downstream_gene_variant | MODIFIER | NA20129.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0001 | 1 | 235 | 0.0043 | 494 | c.*46 others(505): Show |
RTP5 | ENSG00000188011.5 | transcript | ENST00000343216.3 | protein_coding | 4127 | chr2 | TogoVar | |||||||
SAMD12_chr8_118372984_118626963 | 118469545 | T | TAATATAT others(487): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0056 a0001c0001t0002g0184 |
2 | 30 | 0.0667 | 494 | c.193 others(513): Show |
SAMD12 | ENSG00000177570.15 | transcript | ENST00000314727.9 | protein_coding | 2/3 | chr8 | TogoVar | |||||||
SCAMP1_chr5_78355617_78485739 | 78430042 | T | TTACAGTA others(487): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0038 | 1 | 182 | 0.0055 | 494 | c.632 others(511): Show |
SCAMP1 | ENSG00000085365.18 | transcript | ENST00000621999.5 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SLC22A23_chr6_3263973_3462050 | 3356090 | C | CGGGGGGC others(487): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02559.hp2 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0018 | a0001c0001t0011g0199 a0001c0001t0018g0020 |
2 | 26 | 0.0769 | 494 | c.914 others(513): Show |
SLC22A23 | ENSG00000137266.15 | transcript | ENST00000406686.8 | protein_coding | 3/9 | chr6 | TogoVar | |||||||
SLC22A23_chr6_3263973_3462050 | 3356090 | C | CGGGGGGC others(487): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 25 | 0.0400 | 494 | c.914 others(513): Show |
SLC22A23 | ENSG00000137266.15 | transcript | ENST00000406686.8 | protein_coding | 3/9 | chr6 | TogoVar | |||||||
SLC22A23_chr6_3263973_3462050 | 3356090 | C | CGGGGGGC others(487): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01106.hp2 HG01168.hp2 others(13): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0039 a0001c0001t0001g0066 a0001c0001t0001g0092 others(13): Show |
16 | 40 | 0.4000 | 494 | c.914 others(513): Show |
SLC22A23 | ENSG00000137266.15 | transcript | ENST00000406686.8 | protein_coding | 3/9 | chr6 | TogoVar | |||||||
SLC22A23_chr6_3263973_3462050 | 3356090 | C | CGGGGGGC others(487): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 25 | 0.0400 | 494 | c.914 others(513): Show |
SLC22A23 | ENSG00000137266.15 | transcript | ENST00000406686.8 | protein_coding | 3/9 | chr6 | TogoVar | |||||||
SLC22A23_chr6_3263973_3462050 | 3356090 | C | CGGGGGGC others(487): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0004 | a0001c0004t0048 | a0001c0004t0048g0023 | 1 | 25 | 0.0400 | 494 | c.914 others(513): Show |
SLC22A23 | ENSG00000137266.15 | transcript | ENST00000406686.8 | protein_coding | 3/9 | chr6 | TogoVar | |||||||
SLC2A8_chr9_127392169_127412898 | 127408233 | C | CCACTGTA others(487): Show |
downstream_gene_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 238 | 0.0042 | 494 | c.*98 others(503): Show |
SLC2A8 | ENSG00000136856.18 | transcript | ENST00000373371.8 | protein_coding | 336 | chr9 | TogoVar | |||||||
SLC6A3_chr5_1387794_1450440 | 1414424 | A | AGAAGGCA others(487): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 208 | 0.0048 | 494 | c.115 others(511): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
SLC6A3_chr5_1387794_1450440 | 1414424 | A | AGAAGGCA others(487): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0307 | 1 | 208 | 0.0048 | 494 | c.115 others(511): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
SLC6A3_chr5_1387794_1450440 | 1414424 | A | AGAAGGCA others(487): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0331 | 1 | 208 | 0.0048 | 494 | c.115 others(511): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
SLC6A3_chr5_1387794_1450440 | 1414484 | T | TGGAGGGG others(487): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0142 | 1 | 113 | 0.0088 | 494 | c.115 others(511): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
SMIM36_chr17_55444856_55516452 | 55501087 | A | ATATCATA others(487): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 161 | 0.0062 | 494 | c.*17 others(513): Show |
SMIM36 | ENSG00000261873.3 | transcript | ENST00000636752.2 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
SMIM36_chr17_55444856_55516452 | 55501087 | A | ATATCATA others(487): Show |
intron_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 161 | 0.0062 | 494 | c.*17 others(513): Show |
SMIM36 | ENSG00000261873.3 | transcript | ENST00000636752.2 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
SNX9_chr6_157818246_157950077 | 157826849 | T | TATATAAT others(487): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0052 | 1 | 114 | 0.0088 | 494 | c.12+ others(509): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SNX9_chr6_157818246_157950077 | 157827465 | A | AATATATT others(487): Show |
intron_variant | MODIFIER | HG00544.hp2 NA18947.hp2 NA18986.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0136 a0001c0004t0001g0155 a0001c0004t0001g0159 |
3 | 214 | 0.0140 | 494 | c.12+ others(509): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | chr6 | TogoVar | |||||||
SPEF2_chr5_35612863_35819611 | 35714089 | T | TACGTATA others(487): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0011 | a0011c0015 | a0011c0015t0001 | a0011c0015t0001g0109 | 1 | 259 | 0.0039 | 494 | c.291 others(513): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 20/36 | chr5 | TogoVar | |||||||
SPEF2_chr5_35612863_35819611 | 35714092 | A | ATATAGTA others(487): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0092 | 1 | 32 | 0.0313 | 494 | c.291 others(513): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 20/36 | chr5 | TogoVar | |||||||
SUN1_chr7_827476_879934 | 868727 | G | GCAGTGCT others(487): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0305 | 1 | 379 | 0.0026 | 494 | c.198 others(511): Show |
SUN1 | ENSG00000164828.18 | transcript | ENST00000401592.6 | protein_coding | 16/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TFPT_chr19_54102020_54120657 | 54109797 | C | CTCCACCC others(487): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 184 | 0.0054 | 494 | c.353 others(509): Show |
TFPT | ENSG00000105619.14 | transcript | ENST00000391759.6 | protein_coding | 3/5 | chr19 | TogoVar | |||||||
TFPT_chr19_54102020_54120657 | 54109797 | C | CTCCACCC others(487): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 184 | 0.0054 | 494 | c.353 others(509): Show |
TFPT | ENSG00000105619.14 | transcript | ENST00000391759.6 | protein_coding | 3/5 | chr19 | TogoVar | |||||||
TFPT_chr19_54102020_54120657 | 54109797 | C | CTCCACCC others(487): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 184 | 0.0054 | 494 | c.353 others(509): Show |
TFPT | ENSG00000105619.14 | transcript | ENST00000391759.6 | protein_coding | 3/5 | chr19 | TogoVar | |||||||
TMPRSS9_chr19_2355265_2431261 | 2377639 | C | CTCTCCCC others(487): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 10 | 0.1000 | 494 | c.-25 others(513): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TNFRSF18_chr1_1198508_1211592 | 1201965 | C | CAGCCCAG others(487): Show |
downstream_gene_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 374 | 0.0027 | 494 | c.*18 others(505): Show |
TNFRSF18 | ENSG00000186891.14 | transcript | ENST00000379268.7 | protein_coding | 1542 | chr1 | TogoVar | |||||||
TNFRSF18_chr1_1198508_1211592 | 1202406 | C | CCAGTACC others(487): Show |
downstream_gene_variant | MODIFIER | HG02258.hp1 HG02717.hp1 HG02922.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0004 a0002c0002t0002g0010 |
5 | 378 | 0.0132 | 494 | c.*14 others(505): Show |
TNFRSF18 | ENSG00000186891.14 | transcript | ENST00000379268.7 | protein_coding | 1101 | chr1 | TogoVar | |||||||
TRIM48_chr11_55257155_55276114 | 55273429 | T | TTATATAT others(487): Show |
downstream_gene_variant | MODIFIER | HG01258.hp2 HG01261.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 116 | 0.0172 | 494 | c.*29 others(505): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 2316 | chr11 | TogoVar | |||||||
TUBB2B_chr6_3219277_3232653 | 3222205 | C | CACTACCA others(487): Show |
downstream_gene_variant | MODIFIER | HG02055.hp2 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 355 | 0.0056 | 494 | c.*25 others(505): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 2071 | chr6 | TogoVar | |||||||
ULK1_chr12_131889622_131928150 | 131918730 | G | GGGGTGTG others(487): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0166 | 1 | 169 | 0.0059 | 494 | c.251 others(509): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 23/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131918730 | G | GGGGTGTG others(487): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(83): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0001c0006others(9): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(22): Show | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0010 others(78): Show |
86 | 254 | 0.3386 | 494 | c.251 others(509): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 23/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
VGLL4_chr3_11551069_11648915 | 11605172 | G | GCCCACCC others(487): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 246 | 0.0041 | 494 | c.83- others(509): Show |
VGLL4 | ENSG00000144560.16 | transcript | ENST00000430365.7 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
VIPR2_chr7_159023175_159149867 | 159088856 | A | AGCTCCTC others(487): Show |
intron_variant | MODIFIER | HG01346.hp1 HG03130.hp1 HG03195.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0034others(2): Show | a0001c0001t0001g0045 a0001c0001t0001g0069 a0001c0001t0001g0271 others(6): Show |
9 | 36 | 0.2500 | 494 | c.357 others(513): Show |
VIPR2 | ENSG00000106018.14 | transcript | ENST00000262178.7 | protein_coding | 4/12 | chr7 | TogoVar | |||||||
VWA2_chr10_114234254_114299489 | 114253198 | T | TCCTCTCC others(487): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0013 | a0013c0028 | a0013c0028t0016 | a0013c0028t0016g0108 | 1 | 33 | 0.0303 | 494 | c.53- others(507): Show |
VWA2 | ENSG00000165816.13 | transcript | ENST00000392982.8 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VWA2_chr10_114234254_114299489 | 114253198 | T | TCCTCTCC others(487): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0082 | 1 | 33 | 0.0303 | 494 | c.53- others(507): Show |
VWA2 | ENSG00000165816.13 | transcript | ENST00000392982.8 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
WDR64_chr1_241647281_241807777 | 241674897 | T | TCCTTCTT others(487): Show |
intron_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0133 | 1 | 288 | 0.0035 | 494 | c.483 others(509): Show |
WDR64 | ENSG00000162843.18 | transcript | ENST00000437684.7 | protein_coding | 4/27 | chr1 | TogoVar | |||||||
ZBTB42_chr14_104796101_104809712 | 104808072 | C | CAGCACCC others(487): Show |
downstream_gene_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 53 | 0.0189 | 494 | c.*56 others(505): Show |
ZBTB42 | ENSG00000179627.10 | transcript | ENST00000342537.8 | protein_coding | 3361 | chr14 | TogoVar |