Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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Samplehapid

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No_samplehapid

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
KLK7_chr19_50971468_50988917	50983354	CCCCAGCC others(65): Show CCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCAGCTCCTCCT CCCTCAGACCTAGGAGTCCAGGT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02257.hp2 HG03098.hp2 HG01884.hp1 HG02257.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0006 a0001c0006t0002 a0001c0002t0006 a0001c0006t0002	a0001c0002t0006g0042 a0001c0006t0002g0021 a0001c0002t0006g0042 a0001c0006t0002g0021	3	384	0.0078	-72	c.-59 others(87): Show c.-59+425_-59+496delACCTGGACTCCTAGGTCTGAGGGAGGAGGA GCTGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGG	KLK7	ENSG00000169035.12	transcript	ENST00000595820.6	protein_coding	1/5			chr19	TogoVar
KLKB1_chr4_186222507_186263471	186239309	GACAGTGA others(65): Show GACAGTGATATAGGACAGTGATATTGTTATAGTTATAGGAAACTAGTACA GTGATACTGTTAGAGTTATAGGT	G G	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0246 a0002c0003t0002g0246	1	432	0.0023	-72	c.598 others(89): Show c.598+1027_598+1098delAGGACAGTGATATTGTTATAGTTATAGG AAACTAGTACAGTGATACTGTTAGAGTTATAGGTACAGTGATAT	KLKB1	ENSG00000164344.17	transcript	ENST00000264690.11	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr4	TogoVar
KNDC1_chr10_133155219_133231412	133203152	CGGGGAGC others(65): Show CGGGGAGCACTCGGCCCCCAAACGCACAGAGTCCAGCGGGGAGCACTCGG CCCCCAAACGCACGGCGTCCAGT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00323.hp2 others(182): Show HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00609.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp2 HG02055.hp2 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02145.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp2 NA18948.hp1 NA18952.hp1 NA18954.hp1 NA18957.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp2 NA18966.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18995.hp1 NA18999.hp2 NA19003.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19066.hp2 NA19067.hp1 NA19070.hp2 NA19079.hp2 NA19081.hp1 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0011 a0012 a0013 a0014 a0016 a0017 a0024 a0025 a0026	a0001c0001 a0002c0002 a0002c0005 others(43): Show a0001c0001 a0002c0002 a0002c0005 a0002c0006 a0002c0022 a0002c0041 a0002c0043 a0002c0058 a0002c0061 a0003c0011 a0003c0015 a0003c0016 a0003c0032 a0003c0033 a0003c0034 a0003c0049 a0004c0007 a0004c0024 a0004c0028 a0004c0063 a0005c0012 a0005c0021 a0005c0048 a0005c0065 a0006c0010 a0006c0019 a0007c0009 a0007c0047 a0009c0013 a0010c0020 a0010c0025 a0011c0037 a0011c0051 a0011c0052 a0011c0053 a0012c0018 a0012c0045 a0013c0023 a0013c0060 a0014c0066 a0014c0067 a0016c0029 a0017c0057 a0024c0059 a0025c0062 a0026c0042	a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 others(63): Show a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0009 a0002c0002t0014 a0002c0002t0015 a0002c0002t0017 a0002c0002t0018 a0002c0002t0025 a0002c0005t0001 a0002c0005t0002 a0002c0005t0024 a0002c0006t0004 a0002c0006t0010 a0002c0006t0011 a0002c0006t0029 a0002c0022t0002 a0002c0022t0003 a0002c0041t0004 a0002c0043t0002 a0002c0058t0002 a0002c0061t0002 a0003c0011t0001 a0003c0015t0001 a0003c0015t0002 a0003c0015t0028 a0003c0016t0006 a0003c0032t0010 a0003c0033t0005 a0003c0034t0011 a0003c0049t0002 a0004c0007t0001 a0004c0007t0002 a0004c0024t0004 a0004c0028t0002 a0004c0063t0002 a0005c0012t0002 a0005c0021t0004 a0005c0048t0002 a0005c0065t0002 a0006c0010t0001 a0006c0010t0026 a0006c0019t0005 a0007c0009t0001 a0007c0009t0002 a0007c0047t0001 a0009c0013t0002 a0010c0020t0002 a0010c0025t0002 a0011c0037t0027 a0011c0051t0002 a0011c0052t0001 a0011c0053t0001 a0012c0018t0001 a0012c0018t0006 a0012c0045t0006 a0013c0023t0004 a0013c0060t0002 a0014c0066t0002 a0014c0067t0002 a0016c0029t0002 a0016c0029t0021 a0017c0057t0002 a0024c0059t0002 a0025c0062t0002 a0026c0042t0004	a0001c0001t0002g0081 a0002c0002t0001g0076 a0002c0002t0001g0088 others(180): Show a0001c0001t0002g0081 a0002c0002t0001g0076 a0002c0002t0001g0088 a0002c0002t0001g0239 a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0008 a0002c0002t0002g0016 a0002c0002t0002g0035 a0002c0002t0002g0036 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0049 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0075 a0002c0002t0002g0087 a0002c0002t0002g0089 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0106 a0002c0002t0002g0115 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0128 a0002c0002t0002g0146 a0002c0002t0002g0147 a0002c0002t0002g0166 a0002c0002t0002g0171 a0002c0002t0002g0172 a0002c0002t0002g0180 a0002c0002t0002g0181 a0002c0002t0002g0182 a0002c0002t0002g0212 a0002c0002t0002g0213 a0002c0002t0002g0215 a0002c0002t0002g0217 a0002c0002t0002g0218 a0002c0002t0002g0219 a0002c0002t0002g0220 a0002c0002t0002g0250 a0002c0002t0002g0255 a0002c0002t0009g0091 a0002c0002t0009g0112 a0002c0002t0014g0145 a0002c0002t0015g0148 a0002c0002t0017g0090 a0002c0002t0018g0037 a0002c0002t0025g0028 a0002c0005t0001g0032 a0002c0005t0001g0119 a0002c0005t0002g0025 a0002c0005t0002g0070 a0002c0005t0002g0084 a0002c0005t0002g0085 a0002c0005t0002g0103 a0002c0005t0002g0110 a0002c0005t0002g0116 a0002c0005t0002g0159 a0002c0005t0002g0160 a0002c0005t0002g0161 a0002c0005t0002g0214 a0002c0005t0002g0216 a0002c0005t0002g0226 a0002c0005t0024g0095 a0002c0006t0004g0280 a0002c0006t0004g0282 a0002c0006t0004g0287 a0002c0006t0004g0288 a0002c0006t0004g0292 a0002c0006t0004g0293 a0002c0006t0004g0294 a0002c0006t0004g0295 a0002c0006t0004g0298 a0002c0006t0004g0311 a0002c0006t0010g0315 a0002c0006t0011g0312 a0002c0006t0029g0279 a0002c0022t0002g0096 a0002c0022t0003g0291 a0002c0041t0004g0274 a0002c0043t0002g0062 a0002c0058t0002g0003 a0002c0061t0002g0061 a0003c0011t0001g0018 a0003c0011t0001g0022 a0003c0011t0001g0153 a0003c0011t0001g0154 a0003c0011t0001g0210 a0003c0011t0001g0248 a0003c0011t0001g0249 a0003c0015t0001g0236 a0003c0015t0002g0237 a0003c0015t0002g0238 a0003c0015t0028g0109 a0003c0016t0006g0117 a0003c0016t0006g0118 a0003c0016t0006g0225 a0003c0032t0010g0308 a0003c0033t0005g0265 a0003c0034t0011g0313 a0003c0049t0002g0023 a0004c0007t0001g0069 a0004c0007t0002g0053 a0004c0007t0002g0054 a0004c0007t0002g0063 a0004c0007t0002g0067 a0004c0007t0002g0068 a0004c0007t0002g0077 a0004c0007t0002g0078 a0004c0007t0002g0179 a0004c0024t0004g0010 a0004c0028t0002g0134 a0004c0028t0002g0137 a0004c0063t0002g0027 a0005c0012t0002g0026 a0005c0012t0002g0030 a0005c0012t0002g0031 a0005c0012t0002g0051 a0005c0012t0002g0156 a0005c0012t0002g0251 a0005c0012t0002g0254 a0005c0021t0004g0286 a0005c0021t0004g0289 a0005c0048t0002g0173 a0005c0065t0002g0040 a0006c0010t0001g0019 a0006c0010t0001g0020 a0006c0010t0001g0021 a0006c0010t0001g0048 a0006c0010t0001g0105 a0006c0010t0001g0240 a0006c0010t0026g0017 a0006c0019t0005g0277 a0006c0019t0005g0278 a0007c0009t0001g0002 a0007c0009t0001g0047 a0007c0009t0001g0104 a0007c0009t0001g0130 a0007c0009t0001g0132 a0007c0009t0001g0133 a0007c0009t0002g0131 a0007c0047t0001g0002 a0009c0013t0002g0229 a0009c0013t0002g0230 a0009c0013t0002g0231 a0009c0013t0002g0232 a0009c0013t0002g0233 a0009c0013t0002g0234 a0009c0013t0002g0235 a0010c0020t0002g0258 a0010c0020t0002g0259 a0010c0025t0002g0242 a0010c0025t0002g0243 a0011c0037t0027g0310 a0011c0051t0002g0024 a0011c0052t0001g0135 a0011c0053t0001g0316 a0012c0018t0001g0266 a0012c0018t0006g0267 a0012c0045t0006g0244 a0013c0023t0004g0305 a0013c0023t0004g0306 a0013c0060t0002g0086 a0014c0066t0002g0111 a0014c0067t0002g0015 a0016c0029t0002g0150 a0016c0029t0021g0151 a0017c0057t0002g0074 a0024c0059t0002g0008 a0025c0062t0002g0042 a0026c0042t0004g0281	185	332	0.5572	-72	c.338 others(91): Show c.3387+1313_3387+1384delGCACGGCGTCCAGTGGGGAGCACTCG GCCCCCAAACGCACAGAGTCCAGCGGGGAGCACTCGGCCCCCAAAC	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr10	TogoVar
KRTAP19-6_chr21_30536535_30546864	30541364	GAAATGTA others(65): Show GAAATGTACTAAAATGAATTGATAAAGCCATGTTTGCTATTCAAGTTAAA CGTGTTTATTTAAAACTATTTTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp1 NA18998.hp1 NA18967.hp1 NA18998.hp1	a0000 a0000	a0000c0001 a0000c0001	a0000c0001t0001 a0000c0001t0001	a0000c0001t0001g0000 a0000c0001t0001g0000	2	394	0.0051	-72	c.22 others(81): Show c.221_*292delTAAAATAGTTTTAAATAAACACGTTTAACTTGAATA GCAAACATGGCTTTATCAATTCATTTTAGTACATTT	KRTAP19-6	ENSG00000186925.6	transcript	ENST00000334046.5	protein_coding		170		chr21	TogoVar
LCN15_chr9_136754634_136769518	136756095	GGGAACAG others(65): Show GGGAACAGTGCAGGGAACAGCATGGGGAACAGCGCAGGGAACAGCATGTG GAACAGCGCAGGGAACAGCATGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00609.hp1 HG00609.hp2 others(38): Show HG00140.hp2 HG00609.hp1 HG00609.hp2 HG00738.hp2 HG01074.hp1 HG01081.hp1 HG01167.hp2 HG01169.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01433.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG02027.hp2 HG02071.hp1 HG02165.hp2 HG02572.hp2 HG02622.hp1 HG02723.hp1 HG02818.hp1 HG02976.hp1 HG03017.hp2 HG03209.hp2 HG03453.hp1 HG03669.hp2 NA18612.hp2 NA18747.hp2 NA18944.hp2 NA18973.hp2 NA18981.hp1 NA18995.hp2 NA18998.hp1 NA19009.hp2 NA19011.hp1 NA19054.hp2 NA19063.hp1 NA19066.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0001 a0001c0001t0001 a0003c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0013 others(10): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0063 a0003c0005t0001g0017	41	356	0.1152	-72	c.36 others(83): Show c.3649_*3720delTCATGCTGTTCCCTGCGCTGTTCCACATGCTGTT CCCTGCGCTGTTCCCCATGCTGTTCCCTGCACTGTTCC	LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding		3538		chr9	TogoVar
LCN8_chr9_136749386_136763243	136756095	GGGAACAG others(65): Show GGGAACAGTGCAGGGAACAGCATGGGGAACAGCGCAGGGAACAGCATGTG GAACAGCGCAGGGAACAGCATGA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00609.hp1 HG00609.hp2 others(38): Show HG00140.hp1 HG00609.hp1 HG00609.hp2 HG00738.hp2 HG01074.hp2 HG01081.hp2 HG01167.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01433.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG02027.hp1 HG02071.hp1 HG02165.hp1 HG02572.hp2 HG02622.hp1 HG02723.hp2 HG02818.hp2 HG02976.hp1 HG03017.hp2 HG03209.hp1 HG03453.hp2 HG03669.hp1 NA18612.hp2 NA18747.hp1 NA18944.hp2 NA18973.hp1 NA18981.hp2 NA19001.hp1 NA19009.hp2 NA19011.hp1 NA19054.hp2 NA19066.hp2 NA19068.hp2 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0005 a0002c0002 a0002c0005	a0002c0002t0003 a0002c0005t0003 a0002c0002t0003 a0002c0005t0003	a0002c0002t0003g0003 a0002c0002t0003g0006 a0002c0002t0003g0018 others(1): Show a0002c0002t0003g0003 a0002c0002t0003g0006 a0002c0002t0003g0018 a0002c0005t0003g0019	41	368	0.1114	-72	c.226 others(87): Show c.226+355_226+426delTCATGCTGTTCCCTGCGCTGTTCCACATGC TGTTCCCTGCGCTGTTCCCCATGCTGTTCCCTGCACTGTTCC	LCN8	ENSG00000204001.10	transcript	ENST00000371688.8	protein_coding	3/6			chr9	TogoVar
LHFPL5_chr6_35800352_35829070	35822784	ATTTTTAG others(65): Show ATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGCCTCGAAC TCCTGACCTCAAGTGATCCACCC	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0324 a0001c0001t0058g0324	1	386	0.0026	-72	c.17 others(87): Show c.17-197_*17-126delTTTTTAGTAGAGACAGGGTTTCACCATGTT GGCCAGGCTGGCCTCGAACTCCTGACCTCAAGTGATCCACCC	LHFPL5	ENSG00000197753.11	transcript	ENST00000360215.3	protein_coding	3/3			chr6	TogoVar
LHPP_chr10_124456823_124619141	124506964	GCGGGTAG others(65): Show GCGGGTAGACAGGATTTCAGGTGAGGGGGGTAGGGAGGATTTCAGGTCGG GGGGTAGACAGGATTTCAGGTGA	G G	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0198 a0002c0002t0001g0198	1	260	0.0039	-72	c.624 others(89): Show c.624+8837_624+8908delCGGGTAGACAGGATTTCAGGTGAGGGGG GTAGGGAGGATTTCAGGTCGGGGGGTAGACAGGATTTCAGGTGA	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6			chr10	TogoVar
LIMD1_chr3_45589751_45691341	45675543	CTATGAGA others(65): Show CTATGAGAGCCACAAATTAAAGTCATGTATCATTTTAAGTTTTCTGGTAG TCACAATTAAAACGTTAAAGAAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp2 others(49): Show HG00099.hp1 HG00140.hp1 HG00323.hp2 HG00639.hp2 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG01070.hp2 HG01081.hp1 HG01106.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01496.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp2 HG02109.hp1 HG02145.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02300.hp1 HG02622.hp2 HG02683.hp1 HG02738.hp2 HG03491.hp2 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03927.hp1 HG04184.hp2 NA18944.hp1 NA18959.hp1 NA18970.hp1 NA18983.hp2 NA19005.hp1 NA19030.hp2 NA19084.hp1 NA19090.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0014 a0001c0001t0043 a0001c0001t0064 others(38): Show a0001c0001t0014 a0001c0001t0043 a0001c0001t0064 a0001c0001t0144 a0001c0001t0157 a0001c0001t0158 a0001c0001t0159 a0001c0001t0171 a0001c0001t0194 a0001c0001t0199 a0001c0001t0200 a0001c0002t0020 a0001c0002t0025 a0001c0002t0028 a0001c0002t0030 a0001c0002t0031 a0001c0002t0033 a0001c0002t0034 a0001c0002t0036 a0001c0002t0051 a0001c0002t0052 a0001c0002t0054 a0001c0002t0059 a0001c0002t0060 a0001c0002t0061 a0001c0002t0062 a0001c0002t0063 a0001c0002t0065 a0001c0002t0066 a0001c0002t0070 a0001c0002t0087 a0001c0002t0092 a0001c0002t0098 a0001c0002t0099 a0001c0002t0100 a0001c0002t0107 a0001c0002t0114 a0001c0002t0125 a0001c0002t0136 a0001c0002t0206 a0001c0002t0207	a0001c0001t0014g0035 a0001c0001t0014g0038 a0001c0001t0014g0039 others(49): Show a0001c0001t0014g0035 a0001c0001t0014g0038 a0001c0001t0014g0039 a0001c0001t0043g0040 a0001c0001t0043g0104 a0001c0001t0064g0259 a0001c0001t0144g0117 a0001c0001t0157g0247 a0001c0001t0158g0037 a0001c0001t0159g0036 a0001c0001t0171g0193 a0001c0001t0194g0246 a0001c0001t0199g0072 a0001c0001t0200g0071 a0001c0002t0020g0309 a0001c0002t0020g0340 a0001c0002t0025g0321 a0001c0002t0025g0338 a0001c0002t0028g0328 a0001c0002t0028g0329 a0001c0002t0030g0319 a0001c0002t0030g0326 a0001c0002t0031g0332 a0001c0002t0031g0333 a0001c0002t0033g0315 a0001c0002t0033g0347 a0001c0002t0034g0345 a0001c0002t0034g0348 a0001c0002t0036g0320 a0001c0002t0036g0346 a0001c0002t0051g0306 a0001c0002t0052g0307 a0001c0002t0054g0330 a0001c0002t0059g0327 a0001c0002t0060g0316 a0001c0002t0061g0311 a0001c0002t0062g0317 a0001c0002t0063g0303 a0001c0002t0065g0341 a0001c0002t0066g0305 a0001c0002t0070g0308 a0001c0002t0087g0335 a0001c0002t0092g0318 a0001c0002t0098g0325 a0001c0002t0099g0322 a0001c0002t0100g0323 a0001c0002t0107g0334 a0001c0002t0114g0314 a0001c0002t0125g0353 a0001c0002t0136g0324 a0001c0002t0206g0310 a0001c0002t0207g0312	52	358	0.1453	-72	c.189 others(91): Show c.1893+1201_1894-1239delGAATTATGAGAGCCACAAATTAAAGT CATGTATCATTTTAAGTTTTCTGGTAGTCACAATTAAAACGTTAAA	LIMD1	ENSG00000144791.10	transcript	ENST00000273317.5	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
LIPG_chr18_49557057_49604185	49579001	GGGGAGAG others(65): Show GGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGA	G G	intron_variant intron_variant	MODIFIER	HG01981.hp1 NA19067.hp2 HG01981.hp1 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0225 a0001c0001t0015g0027 a0001c0001t0001g0225 a0001c0001t0015g0027	2	384	0.0052	-72	c.794 others(89): Show c.794-2248_794-2177delAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG	LIPG	ENSG00000101670.12	transcript	ENST00000261292.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
LMAN2_chr5_177326567_177356668	177326849	GAAAGAAA others(65): Show GAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	376	0.0027	-72	c.51 others(83): Show c.5165_*5236delTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTT	LMAN2	ENSG00000169223.16	transcript	ENST00000303127.12	protein_coding		4717		chr5	TogoVar
LMCD1_chr3_8496823_8579668	8577350	TCAAGGTC others(65): Show TCAAGGTCAATAAAGTGTTGTCTTCTGTGAGCTAAAAGGAGGGCAGAAGT TAACAGTCTTGTTTCTTCAATTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	314	0.0032	-72	c.97 others(83): Show c.9753_*9824delCAAGGTCAATAAAGTGTTGTCTTCTGTGAGCTAA AAGGAGGGCAGAAGTTAACAGTCTTGTTTCTTCAATTC	LMCD1	ENSG00000071282.12	transcript	ENST00000157600.8	protein_coding		2683		chr3	TogoVar
LMF1_chr16_848634_975984	859251	GGTGTCAC others(65): Show GGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTG TCTCGGGACGGGTGTGCAGTGTT	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0022 a0022	a0022c0042 a0022c0042	a0022c0042t0001 a0022c0042t0001	a0022c0042t0001g0084 a0022c0042t0001g0084	1	294	0.0034	-72	c.153 others(91): Show c.1530-4617_1530-4546delAACACTGCACACCCGTCCCGAGACAC CACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACAC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	953292	CCAAACCA others(65): Show CCAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCAAACCAGCTT CCTACACGTTCACACAGACACGG	C C	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02027.hp1 HG02055.hp2 others(11): Show HG00597.hp2 HG02027.hp1 HG02055.hp2 HG02300.hp2 HG03579.hp1 HG03704.hp1 HG04228.hp2 NA18952.hp2 NA18964.hp2 NA18970.hp2 NA18995.hp1 NA19012.hp1 NA19043.hp2 NA19068.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0023 others(2): Show a0001c0001 a0001c0003 a0001c0023 a0001c0060 a0003c0014	a0001c0001t0001 a0001c0003t0001 a0001c0023t0001 others(2): Show a0001c0001t0001 a0001c0003t0001 a0001c0023t0001 a0001c0060t0002 a0003c0014t0001	a0001c0001t0001g0151 a0001c0001t0001g0200 a0001c0001t0001g0247 others(11): Show a0001c0001t0001g0151 a0001c0001t0001g0200 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0256 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0003t0001g0124 a0001c0003t0001g0250 a0001c0023t0001g0244 a0001c0060t0002g0128 a0003c0014t0001g0009	14	294	0.0476	-72	c.503 others(88): Show c.503+993_503+1064delCCGTGTCTGTGTGAACGTGTAGGAAGCTG GTTTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	953803	CCACCCCA others(65): Show CCACCCCAAACCAGCCTCCTACATGTCCACACAGACACCCACCCCAAACC AGCCTCCTACACGTCCACACAGA	C C	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	294	0.0034	-72	c.503 others(87): Show c.503+482_503+553delTCTGTGTGGACGTGTAGGAGGCTGGTTTGG GGTGGGTGTCTGTGTGGACATGTAGGAGGCTGGTTTGGGGTG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	953856	CTCCTACA others(65): Show CTCCTACACGTCCACACAGACACCCCAAACCAGCCTCCTACACGTCCACA CAGACACCCACCCCAAACCAGCT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02896.hp2 HG02451.hp1 HG02896.hp2	a0006 a0006	a0006c0021 a0006c0021	a0006c0021t0001 a0006c0021t0006 a0006c0021t0001 a0006c0021t0006	a0006c0021t0001g0020 a0006c0021t0006g0019 a0006c0021t0001g0020 a0006c0021t0006g0019	2	294	0.0068	-72	c.503 others(87): Show c.503+429_503+500delAGCTGGTTTGGGGTGGGTGTCTGTGTGGAC GTGTAGGAGGCTGGTTTGGGGTGTCTGTGTGGACGTGTAGGA	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	953913	CCACCCCA others(65): Show CCACCCCAAACCAGCTTCCTACACGTCCACACAGACACCCACCCCAAACC AGCCTCCTACATGTCCACACAGA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01167.hp2 HG03688.hp2 others(1): Show HG00642.hp1 HG01167.hp2 HG03688.hp2 NA20300.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0004c0029 a0001c0001 a0001c0004 a0004c0029	a0001c0001t0001 a0001c0001t0013 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0001t0013 a0001c0004t0001 a0004c0029t0003	a0001c0001t0001g0221 a0001c0001t0013g0191 a0001c0004t0001g0075 others(1): Show a0001c0001t0001g0221 a0001c0001t0013g0191 a0001c0004t0001g0075 a0004c0029t0003g0203	4	294	0.0136	-72	c.503 others(87): Show c.503+372_503+443delTCTGTGTGGACATGTAGGAGGCTGGTTTGG GGTGGGTGTCTGTGTGGACGTGTAGGAAGCTGGTTTGGGGTG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	953990	CCAAACCA others(65): Show CCAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCAAACCAGCCT CCTACACGTCCACACAGACACAG	C C	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	294	0.0034	-72	c.503 others(87): Show c.503+295_503+366delCTGTGTCTGTGTGGACGTGTAGGAGGCTGG TTTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	961078	CACAGACT others(65): Show CACAGACTCACGGTGACAGCACGGGATCACGACCCAGACAGACTCACGGT GACAGCACGGGATCACGACCCAG	C C	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0039 a0001c0002t0001g0039	1	294	0.0034	-72	c.194 others(89): Show c.194-6484_194-6413delCTGGGTCGTGATCCCGTGCTGTCACCGT GAGTCTGTCTGGGTCGTGATCCCGTGCTGTCACCGTGAGTCTGT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10			chr16	TogoVar
LOC102723971_chr9_135609183_135624893	135620215	TTCCCCCT others(65): Show TTCCCCCTACTCCCCCTTCTCCCCCATCTCCCCCGTCTCTCCCGTCTCCC CCATCTCCCCCTTCTCACCCTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	450	0.0022	-72	c.12 others(83): Show c.1264_*1335delTCCCCCTACTCCCCCTTCTCCCCCATCTCCCCCG TCTCTCCCGTCTCCCCCATCTCCCCCTTCTCACCCTTC	LOC102723971	ENSG00000236543.3	transcript	ENST00000430816.3	protein_coding		323		chr9	TogoVar
LPP_chr3_188149157_188895671	188784277	GTATTCCA others(65): Show GTATTCCATCATATATATATATTCCATCATATATATATATTCCATCATAT ATATATATTCCATCATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0032 a0001c0006t0032	a0001c0006t0032g0005 a0001c0006t0032g0005	1	76	0.0132	-72	c.141 others(93): Show c.1410+24141_1410+24212delATTCCATCATATATATATATTCCA TCATATATATATATTCCATCATATATATATATTCCATCATATATATAT	LPP	ENSG00000145012.15	transcript	ENST00000617246.5	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
LRCH3_chr3_197786254_197893436	197876878	ACAGTGAT others(65): Show ACAGTGATTCTCTTTACCCAACTCACCGCACCCATGGCAGTGATTCTCTT TACCCAACTCACCGCACCCATGG	A A	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	292	0.0034	-72	c.220 others(91): Show c.2208+1339_2208+1410delACTCACCGCACCCATGGCAGTGATTC TCTTTACCCAACTCACCGCACCCATGGCAGTGATTCTCTTTACCCA	LRCH3	ENSG00000186001.14	transcript	ENST00000425562.7	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
LRCH3_chr3_197786254_197893436	197877223	CTCACCGC others(65): Show CTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCAT GGCAGTGATTCTCTTTACCCAGT	C C	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03471.hp2 HG02602.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0030 a0001c0001t0001 a0001c0002t0030	a0001c0001t0001g0010 a0001c0002t0030g0150 a0001c0001t0001g0010 a0001c0002t0030g0150	2	292	0.0069	-72	c.220 others(91): Show c.2208+1519_2208+1590delGTTCACCGCACCCATGGCAGTGATTC TCTTTACCCAACTCACCGCACCCATGGCAGTGATTCTCTTTACCCA	LRCH3	ENSG00000186001.14	transcript	ENST00000425562.7	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
LRCH3_chr3_197786254_197893436	197877295	TTCACCGC others(65): Show TTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCAT GGCAGTGATTCTCTTTACCCAAC	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01258.hp1 HG02257.hp1 HG00735.hp1 HG01258.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0156 a0001c0001t0001g0255 a0001c0001t0001g0143 a0001c0001t0001g0156 a0001c0001t0001g0255	3	292	0.0103	-72	c.220 others(91): Show c.2208+1555_2208+1626delACTCACCGCACCCATGGCAGTGATTC TCTTTACCCAACTCACCGCACCCATGGCAGTGATTCTCTTTACCCA	LRCH3	ENSG00000186001.14	transcript	ENST00000425562.7	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
LRCH3_chr3_197786254_197893436	197877403	TTCACCGC others(65): Show TTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCAT GGCAGTGATTCTCTTTACCCAAC	T T	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0268 a0001c0004t0006g0268	1	292	0.0034	-72	c.220 others(91): Show c.2208+1715_2208+1786delGCAGTGATTCTCTTTACCCAACTCAC CGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCATG	LRCH3	ENSG00000186001.14	transcript	ENST00000425562.7	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
LYPD2_chr8_142745150_142757532	142754830	ATGTGATT others(65): Show ATGTGATTAGGAGCAGGGCTCAGCATGTAACAAATGTCAGGGCTCAGCTT GTGACTAAGATCAGGGCTCAGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	396	0.0025	-72	c.-24 others(83): Show c.-2451_-2380delCACTGAGCCCTGATCTTAGTCACAAGCTGAGCCC TGACATTTGTTACATGCTGAGCCCTGCTCCTAATCACA	LYPD2	ENSG00000197353.4	transcript	ENST00000359228.4	protein_coding		2299		chr8	TogoVar
MAD1L1_chr7_1810795_2237945	1937988	AGCAGGGA others(65): Show AGCAGGGAGGTGCAGGGTCACTGCGCACCCGAGACCCCGACCTCACGCCA CACACAAACATCAGCCGCCCACG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01243.hp2 HG01891.hp1 others(17): Show HG00639.hp2 HG01243.hp2 HG01891.hp1 HG02055.hp1 HG02145.hp2 HG02451.hp2 HG02572.hp2 HG02630.hp2 HG02647.hp1 HG02809.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG03041.hp1 HG03139.hp2 HG03579.hp2 NA20129.hp2 NA20300.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 others(1): Show a0001c0001 a0001c0003 a0001c0006 a0001c0010	a0001c0001t0001 a0001c0003t0001 a0001c0006t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0006t0001 a0001c0010t0001	a0001c0001t0001g0145 a0001c0001t0001g0151 a0001c0001t0001g0152 others(17): Show a0001c0001t0001g0145 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0167 a0001c0001t0001g0172 a0001c0001t0001g0223 a0001c0001t0001g0243 a0001c0003t0001g0072 a0001c0003t0001g0133 a0001c0003t0001g0134 a0001c0006t0001g0158 a0001c0010t0001g0084	20	264	0.0758	-72	c.159 others(91): Show c.1597-1163_1597-1092delCGTGGGCGGCTGATGTTTGTGTGTGG CGTGAGGTCGGGGTCTCGGGTGCGCAGTGACCCTGCACCTCCCTGC	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	16/18			chr7	TogoVar
MAEA_chr4_1284891_1345137	1333866	CGTGCTCA others(65): Show CGTGCTCACCTCTGCACCCACCCCATGCCCACCCCCATGCCCACCTGTGC TCACCCCCATGCCCACTCCCGTG	C C	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02004.hp1 HG04115.hp1 HG00609.hp2 HG02004.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0156 a0001c0002t0001g0086 a0001c0002t0001g0118 a0001c0001t0001g0156 a0001c0002t0001g0086 a0001c0002t0001g0118	3	388	0.0077	-72	c.765 others(89): Show c.765+1002_765+1073delGTGCTCACCTCTGCACCCACCCCATGCC CACCCCCATGCCCACCTGTGCTCACCCCCATGCCCACTCCCGTG	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	6/8			chr4	TogoVar
MAMLD1_chrX_150358317_150519173	150516264	CTCCAGGA others(65): Show CTCCAGGATCTCAGCACTTCAGCATCCCAGTACCCTAGCATCTCAATACC CCAGCACCCCAGCACCATAGTAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0133 a0002c0002t0011g0133	1	226	0.0044	-72	c.43 others(83): Show c.4306_*4377delTCCAGGATCTCAGCACTTCAGCATCCCAGTACCC TAGCATCTCAATACCCCAGCACCCCAGCACCATAGTAT	MAMLD1	ENSG00000013619.15	transcript	ENST00000370401.7	protein_coding		2092		chrX	TogoVar
MAP4K1_chr19_38582641_38622953	38602732	GTATACAT others(65): Show GTATACATATATACACATGTACATATATACGCATATACATATATACACAT ATACATATATACACACATACATA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02630.hp1 HG02647.hp1 others(3): Show HG02559.hp2 HG02630.hp1 HG02647.hp1 HG02896.hp1 HG02897.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0336 others(3): Show a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339	6	348	0.0172	-72	c.144 others(91): Show c.1447-1279_1447-1208delTATGTATGTGTGTATATATGTATATG TGTATATATGTATATGCGTATATATGTACATGTGTATATATGTATA	MAP4K1	ENSG00000104814.13	transcript	ENST00000396857.7	protein_coding	19/30			chr19	TogoVar
MAP7D2_chrX_20001713_20121907	20094483	CATACATA others(65): Show CATACATATATATATATATATATATATATATATGTATATATATATATATA TATATATATGTATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG03139.hp1 HG01070.hp1 HG01071.hp1 HG03139.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0130 a0002c0002t0001g0001 a0002c0002t0001g0130	3	210	0.0143	-72	c.130 others(91): Show c.130+22195_130+22266delATATATATATATACATATATATATAT ATATATATATATACATATATATATATATATATATATATATATGTAT	MAP7D2	ENSG00000184368.16	transcript	ENST00000379643.10	protein_coding	1/16			chrX	TogoVar
MAPK8IP3_chr16_1701195_1775351	1739868	CTGTGAGC others(65): Show CTGTGAGCATCCGTGTGACCGTCCGTGTGAGCATCCCTGTGACCGTCCGT GTGAGCTTCCGTGTGACTGTCCG	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA18612.hp1 NA18980.hp1 others(1): Show HG00423.hp2 NA18612.hp1 NA18980.hp1 NA19066.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0287 a0001c0003t0009g0288 a0001c0003t0009g0290 others(1): Show a0001c0003t0009g0287 a0001c0003t0009g0288 a0001c0003t0009g0290 a0001c0003t0009g0322	4	330	0.0121	-72	c.603 others(89): Show c.603-3432_603-3361delATCCCTGTGACCGTCCGTGTGAGCTTCC GTGTGACTGTCCGTGTGAGCATCCGTGTGACCGTCCGTGTGAGC	MAPK8IP3	ENSG00000138834.15	transcript	ENST00000610761.2	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr16	TogoVar
MARS1_chr12_57483068_57521652	57493454	ATATTATA others(65): Show ATATTATAATATATAATATATAATATATAATATATAATATATTATAATAT ATAATATATAATATATAATATAT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp2 HG00621.hp1 others(5): Show HG00438.hp2 HG00597.hp2 HG00621.hp1 NA18950.hp1 NA18957.hp2 NA18966.hp2 NA18983.hp2 NA18999.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0016 a0001c0001 a0004c0016	a0001c0001t0001 a0004c0016t0001 a0001c0001t0001 a0004c0016t0001	a0001c0001t0001g0002 a0001c0001t0001g0083 a0001c0001t0001g0122 others(4): Show a0001c0001t0001g0002 a0001c0001t0001g0083 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0164 a0001c0001t0001g0235 a0004c0016t0001g0076	8	288	0.0278	-72	c.770 others(89): Show c.770+2814_770+2885delTATAATATATAATATATAATATATAATA TATAATATATTATAATATATAATATATAATATATAATATATTAT	MARS1	ENSG00000166986.15	transcript	ENST00000262027.10	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr12	TogoVar
MBD3L3_chr19_7051207_7063676	7053496	ATATATAA others(65): Show ATATATAATATAATTTATATGTTATATAATTATATTATATATATAATATA ATTTATATGTTATATAATTATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	288	0.0035	-72	c.27 others(83): Show c.2754_*2825delATATAATTATATAACATATAAATTATATTATATA TATAATATAATTATATAACATATAAATTATATTATATA	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		2710		chr19	TogoVar
MBD3L4_chr19_7032749_7045179	7034914	ATAATTAT others(65): Show ATAATTATATATATTATGTATTATAATTATATTTATATATTATATTTATA TAATTATATGTAATATATTTAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	262	0.0038	-72	c.28 others(83): Show c.2875_*2946delATTAAATATATTACATATAATTATATAAATATAA TATATAAATATAATTATAATACATAATATATATAATTA	MBD3L4	ENSG00000205718.10	transcript	ENST00000381394.9	protein_coding		2834		chr19	TogoVar
MBD3L5_chr19_7025578_7038011	7034658	ATATTATA others(65): Show ATATTATAATATAATTTATATGTTATATAATTATATTATATATTATAATA CAATTTATATGTTATATAATTAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	249	0.0040	-72	c.17 others(83): Show c.1765_*1836delTATTATAATATAATTTATATGTTATATAATTATA TTATATATTATAATACAATTTATATGTTATATAATTAT	MBD3L5	ENSG00000237247.6	transcript	ENST00000329753.5	protein_coding		1648		chr19	TogoVar
MBD3L5_chr19_7025578_7038011	7034914	ATAATTAT others(65): Show ATAATTATATATATTATGTATTATAATTATATTTATATATTATATTTATA TAATTATATGTAATATATTTAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0001 a0002c0017t0001	a0002c0017t0001g0036 a0002c0017t0001g0036	1	249	0.0040	-72	c.20 others(83): Show c.2021_*2092delTAATTATATATATTATGTATTATAATTATATTTA TATATTATATTTATATAATTATATGTAATATATTTAAT	MBD3L5	ENSG00000237247.6	transcript	ENST00000329753.5	protein_coding		1904		chr19	TogoVar
MBOAT7_chr19_54168415_54194580	54172198	CCCCGGCT others(65): Show CCCCGGCTCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCGGCTCCTCC TCCCTCAGACCCAGGAGTCCAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0309 a0001c0001t0001g0309	1	373	0.0027	-72	c.17 others(83): Show c.1774_*1845delCCTGGACTCCTGGGTCTGAGGGAGGAGGAGCCGG GGGCCTGGACTCCTGGGTCTGAGGGAGGAGGAGCCGGG	MBOAT7	ENSG00000125505.17	transcript	ENST00000245615.6	protein_coding		1216		chr19	TogoVar
MBOAT7_chr19_54168415_54194580	54172318	CTCCTCCC others(65): Show CTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCGGCTCCTCCTCCCTCAGA CCCAGGAGTCCAGGCCCCCGGCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0096 a0001c0010t0001g0096	1	373	0.0027	-72	c.16 others(83): Show c.1654_*1725delAGCCGGGGGCCTGGACTCCTGGGTCTGAGGGAGG AGGAGCCGGGGGCCTGGACTCCTGGGTCTGAGGGAGGA	MBOAT7	ENSG00000125505.17	transcript	ENST00000245615.6	protein_coding		1096		chr19	TogoVar
MED16_chr19_862963_898187	873053	GTGGGGCA others(65): Show GTGGGGCAGGGCTCCGAGGTGGGGGAGGGCTCCGAGGTGGGGGAGGGCTC CGAGGTGGGGCAGGGCTCCGAGA	G G	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0013 a0002c0003t0001g0013	1	56	0.0179	-72	c.190 others(89): Show c.1905+324_1905+395delTCTCGGAGCCCTGCCCCACCTCGGAGCC CTCCCCCACCTCGGAGCCCTCCCCCACCTCGGAGCCCTGCCCCA	MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding	11/15			chr19	TogoVar
MED16_chr19_862963_898187	873088	GGTGGGGG others(65): Show GGTGGGGGAGGGCTCCGAGGTGGGGCAGGGCTCCGAGATGGGGCAGGGCT CCGAGGTGGGGCAGGGCTAGGAA	G G	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0018 a0002c0008t0001g0018	1	56	0.0179	-72	c.190 others(89): Show c.1905+289_1905+360delTTCCTAGCCCTGCCCCACCTCGGAGCCC TGCCCCATCTCGGAGCCCTGCCCCACCTCGGAGCCCTCCCCCAC	MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding	11/15			chr19	TogoVar
MEP1A_chr6_46788389_46844778	46825023	ATTTAAAT others(65): Show ATTTAAATAGATCTATTTAAATATTTATAAATTATGTATTTAAATAAATC TATTTAAATATTTATAAATTATG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0111 a0003c0003t0003g0111	1	352	0.0028	-72	c.557 others(87): Show c.557-247_557-176delTTAAATAGATCTATTTAAATATTTATAAAT TATGTATTTAAATAAATCTATTTAAATATTTATAAATTATGT	MEP1A	ENSG00000112818.11	transcript	ENST00000230588.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
METRNL_chr17_83074609_83100122	83090387	CCCCACAC others(65): Show CCCCACACACACACCCCCCGCCCCACACACACACCCCCCGCCCCACACAC ACACACCCCCCGCCCCACACACA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03195.hp1 HG03209.hp1 others(2): Show HG01891.hp2 HG03195.hp1 HG03209.hp1 HG03486.hp1 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 a0001c0002t0012	a0001c0002t0001g0173 a0001c0002t0002g0090 a0001c0002t0010g0302 others(2): Show a0001c0002t0001g0173 a0001c0002t0002g0090 a0001c0002t0010g0302 a0001c0002t0012g0186 a0001c0002t0012g0191	5	399	0.0125	-72	c.557 others(89): Show c.557-2778_557-2707delCCACACACACACCCCCCGCCCCACACAC ACACCCCCCGCCCCACACACACACACCCCCCGCCCCACACACAC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
METTL26_chr16_629430_641305	631784	CATCCACT others(65): Show CATCCACTCCTCCCATCCACTTCTTCCATCCTCTTCTCCCACCCCGTCAC TGCCTCTCCTTCCATCCTCTCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	404	0.0025	-72	c.27 others(83): Show c.2741_*2812delAGGAGAGGATGGAAGGAGAGGCAGTGACGGGGTG GGAGAAGAGGATGGAAGAAGTGGATGGGAGGAGTGGAT	METTL26	ENSG00000130731.16	transcript	ENST00000301686.13	protein_coding		2645		chr16	TogoVar
MGAM_chr7_141990879_142111747	142044650	ATATAATG others(65): Show ATATAATGTATATTATATACACGTGTAATATATGATGTATAATGAATATT ATATACACGTGTAATATATGATG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01099.hp1 HG04184.hp2 others(2): Show HG00735.hp1 HG01099.hp1 HG04184.hp2 NA18612.hp1 NA18947.hp1	a0003 a0028 a0056 a0003 a0028 a0056	a0003c0003 a0028c0146 a0056c0066 a0003c0003 a0028c0146 a0056c0066	a0003c0003t0001 a0028c0146t0001 a0056c0066t0001 a0003c0003t0001 a0028c0146t0001 a0056c0066t0001	a0003c0003t0001g0171 a0003c0003t0001g0209 a0003c0003t0001g0267 others(2): Show a0003c0003t0001g0171 a0003c0003t0001g0209 a0003c0003t0001g0267 a0028c0146t0001g0044 a0056c0066t0001g0313	5	316	0.0158	-72	c.249 others(91): Show c.2499-3127_2499-3056delTATATTATATACACGTGTAATATATG ATGTATAATGAATATTATATACACGTGTAATATATGATGTATAATG	MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70		INFO_REALIGN_3_PRIME	chr7	TogoVar
MGAM_chr7_141990879_142111747	142044809	TATACACG others(65): Show TATACACGTGTAATATATGATATATAATGTATATTACATACACGTGTAAT ATATGATATATAATGTATATTAC	T T	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0055 a0055	a0055c0048 a0055c0048	a0055c0048t0001 a0055c0048t0001	a0055c0048t0001g0298 a0055c0048t0001g0298	1	316	0.0032	-72	c.249 others(91): Show c.2499-2940_2499-2869delCATACACGTGTAATATATGATATATA ATGTATATTACATACACGTGTAATATATGATATATAATGTATATTA	MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70		INFO_REALIGN_3_PRIME	chr7	TogoVar
MGLL_chr3_127684066_127827515	127694311	ATGTGTGT others(65): Show ATGTGTGTATATATATATGTGTATATATATGTATGTGTATATATATGTGT ATATATATGTATGTATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp1 HG01070.hp1 others(41): Show HG00099.hp2 HG00438.hp1 HG01070.hp1 HG01070.hp2 HG01109.hp1 HG01167.hp1 HG01243.hp1 HG01516.hp2 HG02055.hp2 HG02071.hp1 HG02074.hp2 HG02083.hp1 HG02145.hp2 HG02280.hp1 HG02451.hp1 HG02523.hp1 HG02630.hp2 HG02647.hp1 HG02818.hp2 HG02895.hp2 HG02897.hp2 HG03453.hp1 HG03471.hp1 HG03492.hp2 HG03831.hp2 HG03942.hp1 HG04228.hp2 HG06807.hp2 NA18747.hp2 NA18949.hp1 NA18951.hp1 NA18954.hp1 NA18963.hp1 NA18964.hp1 NA18990.hp2 NA18999.hp1 NA19004.hp2 NA19007.hp1 NA19060.hp2 NA19062.hp2 NA19087.hp1 NA20300.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0008 a0003c0005 a0001c0001 a0001c0008 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0024 a0001c0001t0026 a0001c0008t0006 a0003c0005t0011	a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0045 others(41): Show a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0045 a0001c0001t0001g0078 a0001c0001t0001g0102 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0154 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0186 a0001c0001t0001g0192 a0001c0001t0001g0200 a0001c0001t0001g0206 a0001c0001t0001g0223 a0001c0001t0001g0226 a0001c0001t0001g0235 a0001c0001t0001g0252 a0001c0001t0001g0255 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0283 a0001c0001t0001g0287 a0001c0001t0001g0293 a0001c0001t0001g0306 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0082 a0001c0001t0003g0080 a0001c0001t0004g0040 a0001c0001t0004g0083 a0001c0001t0010g0041 a0001c0001t0011g0034 a0001c0001t0013g0194 a0001c0001t0015g0214 a0001c0001t0017g0215 a0001c0001t0024g0011 a0001c0001t0026g0125 a0001c0008t0006g0039 a0003c0005t0011g0006	44	314	0.1401	-72	c.816 others(87): Show c.816+592_816+663delCATATATATACATACATATATATACACATA TATATACACATACATATATATACACATATATATATACACACA	MGLL	ENSG00000074416.16	transcript	ENST00000265052.10	protein_coding	7/7			chr3	TogoVar
MIA2_chr14_39228915_39355694	39277676	ATATATAT others(65): Show ATATATATATATGTGTGTATATATATATATATATATATATGTGTGTATAT ATATATATATATATATATGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02129.hp2 NA18942.hp1 others(2): Show HG01257.hp1 HG02129.hp2 NA18942.hp1 NA19004.hp2 NA19005.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0003 a0003c0004 a0006c0005 a0001c0003 a0003c0004 a0006c0005	a0001c0003t0001 a0003c0004t0001 a0006c0005t0002 a0001c0003t0001 a0003c0004t0001 a0006c0005t0002	a0001c0003t0001g0318 a0003c0004t0001g0305 a0003c0004t0001g0306 others(2): Show a0001c0003t0001g0318 a0003c0004t0001g0305 a0003c0004t0001g0306 a0003c0004t0001g0328 a0006c0005t0002g0252	5	368	0.0136	-72	c.201 others(89): Show c.2019+623_2019+694delGTGTGTATATATATATATATATATATAT GTGTGTATATATATATATATATATATATGTGTGTATATATATAT	MIA2	ENSG00000150527.18	transcript	ENST00000640607.2	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr14	TogoVar
MICAL3_chr22_17782649_18029561	17876784	GGGAGGTT others(65): Show GGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAG GTTAGGGAGGTTAGGGAGGTTAT	G G	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03209.hp2 HG02818.hp1 HG03209.hp2	a0011 a0032 a0011 a0032	a0011c0017 a0032c0055 a0011c0017 a0032c0055	a0011c0017t0006 a0032c0055t0005 a0011c0017t0006 a0032c0055t0005	a0011c0017t0006g0011 a0032c0055t0005g0039 a0011c0017t0006g0011 a0032c0055t0005g0039	2	274	0.0073	-72	c.224 others(91): Show c.2242-4833_2242-4762delATAACCTCCCTAACCTCCCTAACCTC CATAACCTCCCTAACCTCCCTAACCTCCATAACTTCCCTAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17876926	TAGGGAGG others(65): Show TAGGGAGGTTAGGGAGGTTATGGAGGTTATGGAGGTTAGGGAGGTTATGG AGGTTAGGGAGGTTAGGGAGGTG	T T	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0251 a0002c0005t0005g0251	1	274	0.0037	-72	c.224 others(91): Show c.2242-4975_2242-4904delCACCTCCCTAACCTCCCTAACCTCCA TAACCTCCCTAACCTCCATAACCTCCATAACCTCCCTAACCTCCCT	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar

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