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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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
ELOVL5_chr6_53262404_53353950	53351764	G G	GTATTTAT others(1): Show GTATTTATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG01175.hp2 HG01496.hp1 others(19): Show HG00140.hp2 HG01175.hp2 HG01496.hp1 HG01884.hp1 HG01993.hp2 HG02056.hp1 HG02109.hp2 HG02273.hp2 HG02615.hp1 HG02630.hp2 HG02698.hp1 HG02735.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp2 HG03195.hp1 HG03209.hp1 NA18522.hp1 NA18968.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0183 a0001c0001t0001g0188 a0001c0001t0001g0192 others(18): Show a0001c0001t0001g0183 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0297 a0001c0001t0002g0003 a0001c0001t0002g0014 a0001c0001t0002g0018 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037	22	320	0.0688	8	c.-29 others(19): Show c.-2957_-2956insAATAAATA	ELOVL5	ENSG00000012660.14	transcript	ENST00000304434.11	protein_coding		2815		chr6	TogoVar
ELOVL6_chr4_110040846_110203615	110042850	C C	CAAAAAAA others(1): Show CAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02615.hp2 HG03041.hp2 others(8): Show HG01884.hp1 HG02615.hp2 HG03041.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03516.hp2 HG03579.hp1 NA18906.hp1 NA19030.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0021 others(4): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0021 a0001c0001t0025 a0001c0001t0027 a0001c0001t0035 a0001c0001t0072	a0001c0001t0001g0044 a0001c0001t0001g0070 a0001c0001t0001g0071 others(8): Show a0001c0001t0001g0044 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0226 a0001c0001t0007g0048 a0001c0001t0021g0107 a0001c0001t0025g0108 a0001c0001t0027g0254 a0001c0001t0035g0034 a0001c0001t0072g0252	11	338	0.0325	8	c.84 others(19): Show c.8487_*8488insTTTTTTTT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding		2995		chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110090600	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp1 HG00609.hp2 others(69): Show HG00558.hp2 HG00597.hp1 HG00609.hp2 HG01109.hp1 HG01168.hp2 HG01169.hp1 HG01261.hp2 HG01358.hp2 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02129.hp2 HG02132.hp2 HG02145.hp2 HG02280.hp1 HG02300.hp2 HG02523.hp1 HG02922.hp1 HG02976.hp2 HG03017.hp1 HG03130.hp2 HG03195.hp2 HG03471.hp2 HG03669.hp2 HG03831.hp1 HG04184.hp1 HG06807.hp2 NA18612.hp1 NA18906.hp1 NA18941.hp1 NA18941.hp2 NA18943.hp2 NA18946.hp2 NA18947.hp2 NA18949.hp2 NA18951.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18963.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18974.hp1 NA18978.hp2 NA18984.hp1 NA18985.hp2 NA18988.hp1 NA18992.hp1 NA18999.hp1 NA19003.hp1 NA19004.hp2 NA19011.hp1 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19058.hp1 NA19060.hp1 NA19067.hp2 NA19080.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0016 a0001c0001t0019 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0034 a0001c0001t0042 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0070 a0001c0001t0073	a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0127 others(69): Show a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0127 a0001c0001t0001g0147 a0001c0001t0001g0182 a0001c0001t0001g0213 a0001c0001t0001g0226 a0001c0001t0001g0234 a0001c0001t0001g0241 a0001c0001t0001g0263 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0279 a0001c0001t0001g0305 a0001c0001t0002g0061 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0076 a0001c0001t0002g0142 a0001c0001t0002g0164 a0001c0001t0002g0178 a0001c0001t0002g0180 a0001c0001t0002g0236 a0001c0001t0002g0240 a0001c0001t0002g0244 a0001c0001t0002g0272 a0001c0001t0002g0286 a0001c0001t0002g0290 a0001c0001t0002g0295 a0001c0001t0002g0298 a0001c0001t0002g0301 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0314 a0001c0001t0003g0196 a0001c0001t0003g0205 a0001c0001t0003g0292 a0001c0001t0004g0122 a0001c0001t0005g0134 a0001c0001t0005g0197 a0001c0001t0005g0312 a0001c0001t0006g0093 a0001c0001t0006g0113 a0001c0001t0006g0117 a0001c0001t0006g0194 a0001c0001t0007g0013 a0001c0001t0009g0073 a0001c0001t0011g0004 a0001c0001t0013g0012 a0001c0001t0013g0283 a0001c0001t0016g0112 a0001c0001t0016g0114 a0001c0001t0019g0124 a0001c0001t0019g0328 a0001c0001t0021g0018 a0001c0001t0021g0107 a0001c0001t0024g0154 a0001c0001t0025g0108 a0001c0001t0025g0256 a0001c0001t0027g0254 a0001c0001t0034g0026 a0001c0001t0042g0058 a0001c0001t0044g0100 a0001c0001t0045g0204 a0001c0001t0046g0006 a0001c0001t0052g0191 a0001c0001t0053g0237 a0001c0001t0054g0284 a0001c0001t0055g0063 a0001c0001t0056g0297 a0001c0001t0070g0218 a0001c0001t0073g0126	72	338	0.2130	8	c.221 others(27): Show c.221+14889_221+14896dupAAAAAAAA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110094438	T T	TATATATA others(1): Show TATATATAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02895.hp2 HG02897.hp2 others(3): Show HG00323.hp2 HG02895.hp2 HG02897.hp2 NA18939.hp1 NA18947.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0022 a0001c0001t0080 others(1): Show a0001c0001t0006 a0001c0001t0022 a0001c0001t0080 a0001c0001t0081	a0001c0001t0006g0193 a0001c0001t0006g0296 a0001c0001t0022g0105 others(3): Show a0001c0001t0006g0193 a0001c0001t0006g0296 a0001c0001t0022g0105 a0001c0001t0022g0106 a0001c0001t0080g0104 a0001c0001t0081g0068	6	338	0.0178	8	c.221 others(27): Show c.221+11058_221+11059insTTATATAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110127406	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG06807.hp2 NA19000.hp2 others(3): Show HG03942.hp2 HG06807.hp2 NA19000.hp2 NA19066.hp1 NA19066.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0011	a0001c0001t0002g0032 a0001c0001t0002g0178 a0001c0001t0004g0176 others(3): Show a0001c0001t0002g0032 a0001c0001t0002g0178 a0001c0001t0004g0176 a0001c0001t0010g0269 a0001c0001t0010g0317 a0001c0001t0011g0004	6	338	0.0178	8	c.90- others(25): Show c.90-21786_90-21779dupTTTTTTTT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110141855	G G	GTATATAT others(1): Show GTATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01074.hp1 HG01123.hp2 others(7): Show HG00438.hp2 HG01074.hp1 HG01123.hp2 HG01169.hp1 HG01261.hp2 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG02129.hp1 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0019	a0001c0001t0001g0155 a0001c0001t0001g0199 a0001c0001t0001g0337 others(7): Show a0001c0001t0001g0155 a0001c0001t0001g0199 a0001c0001t0001g0337 a0001c0001t0003g0196 a0001c0001t0003g0198 a0001c0001t0003g0313 a0001c0001t0005g0202 a0001c0001t0006g0326 a0001c0001t0019g0124 a0001c0001t0019g0229	10	338	0.0296	8	c.90- others(25): Show c.90-36235_90-36228dupTATATATA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110147780	G G	GACACACA others(1): Show GACACACAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01081.hp2 HG01175.hp1 others(11): Show HG00642.hp1 HG01081.hp2 HG01175.hp1 HG01346.hp1 HG02622.hp1 HG02922.hp2 HG02976.hp2 HG03492.hp1 HG04115.hp2 NA18941.hp2 NA18954.hp1 NA18968.hp2 NA18990.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0001t0016 a0001c0001t0025 a0001c0001t0041	a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0207 others(11): Show a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0207 a0001c0001t0001g0220 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0004g0233 a0001c0001t0005g0062 a0001c0001t0011g0045 a0001c0001t0011g0151 a0001c0001t0011g0152 a0001c0001t0016g0114 a0001c0001t0025g0256 a0001c0001t0041g0119	14	338	0.0414	8	c.90- others(25): Show c.90-42160_90-42153dupGTGTGTGT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110167653	T T	TTATGTAT others(1): Show TTATGTATG	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp2 NA20805.hp2 NA18949.hp1 NA18949.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0032 a0001c0001t0062 a0001c0001t0006 a0001c0001t0032 a0001c0001t0062	a0001c0001t0006g0117 a0001c0001t0032g0163 a0001c0001t0062g0116 a0001c0001t0006g0117 a0001c0001t0032g0163 a0001c0001t0062g0116	3	338	0.0089	8	c.89+ others(25): Show c.89+30586_89+30593dupCATACATA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110171411	A A	AAAATAAA others(1): Show AAAATAAAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp2 HG01069.hp1 others(34): Show HG00280.hp2 HG00639.hp2 HG01069.hp1 HG01071.hp1 HG01109.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01346.hp2 HG01358.hp2 HG01516.hp1 HG01516.hp2 HG01952.hp1 HG02071.hp1 HG02257.hp2 HG02280.hp2 HG02559.hp2 HG02630.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02896.hp2 HG02965.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03471.hp2 HG03486.hp2 NA18945.hp2 NA19064.hp2 NA19240.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0026 a0001c0001t0027 a0001c0001t0032 a0001c0001t0033 a0001c0001t0036 a0001c0001t0047 a0001c0001t0051 a0001c0001t0073 a0001c0001t0074	a0001c0001t0001g0044 a0001c0001t0001g0070 a0001c0001t0001g0071 others(34): Show a0001c0001t0001g0044 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0146 a0001c0001t0001g0168 a0001c0001t0001g0327 a0001c0001t0002g0164 a0001c0001t0003g0094 a0001c0001t0003g0221 a0001c0001t0003g0255 a0001c0001t0004g0020 a0001c0001t0004g0331 a0001c0001t0005g0285 a0001c0001t0007g0250 a0001c0001t0009g0019 a0001c0001t0009g0021 a0001c0001t0009g0023 a0001c0001t0009g0073 a0001c0001t0013g0266 a0001c0001t0014g0150 a0001c0001t0017g0133 a0001c0001t0017g0223 a0001c0001t0018g0153 a0001c0001t0021g0018 a0001c0001t0022g0017 a0001c0001t0023g0166 a0001c0001t0023g0167 a0001c0001t0026g0330 a0001c0001t0027g0022 a0001c0001t0032g0173 a0001c0001t0033g0169 a0001c0001t0036g0001 a0001c0001t0047g0333 a0001c0001t0051g0143 a0001c0001t0073g0126 a0001c0001t0074g0015	37	338	0.1095	8	c.89+ others(25): Show c.89+26828_89+26835dupATTTATTT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110176151	C C	CTTATTTA others(1): Show CTTATTTAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01081.hp2 HG01346.hp1 others(4): Show HG00544.hp2 HG01081.hp2 HG01346.hp1 NA18974.hp2 NA19002.hp1 NA19002.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0319 others(4): Show a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0319 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0053 a0001c0001t0003g0318	7	338	0.0207	8	c.89+ others(25): Show c.89+22088_89+22095dupATAAATAA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL7_chr5_60746791_60849269	60842904	C C	CGTAGGGC others(1): Show CGTAGGGCA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00408.hp1 others(92): Show HG00099.hp1 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00621.hp2 HG00639.hp1 HG00673.hp2 HG01069.hp1 HG01074.hp1 HG01167.hp2 HG01168.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01975.hp1 HG01975.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02132.hp2 HG02135.hp2 HG02273.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02615.hp2 HG02647.hp1 HG02717.hp2 HG02735.hp2 HG02896.hp1 HG02897.hp1 HG02970.hp2 HG03130.hp1 HG03139.hp2 HG03453.hp1 HG03491.hp2 HG03540.hp1 HG03654.hp1 HG03704.hp2 HG03942.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp2 NA18612.hp1 NA18939.hp2 NA18945.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18967.hp1 NA18968.hp2 NA18970.hp2 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18997.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19011.hp1 NA19030.hp1 NA19054.hp1 NA19058.hp1 NA19060.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp2 NA19074.hp1 NA19074.hp2 NA19078.hp1 NA19084.hp1 NA19086.hp1 NA19090.hp1 NA19090.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0018 a0001c0001t0019 a0002c0002t0001 a0002c0002t0002 a0003c0004t0001	a0001c0001t0001g0003 a0001c0001t0001g0040 a0001c0001t0001g0042 others(88): Show a0001c0001t0001g0003 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0168 a0001c0001t0002g0002 a0001c0001t0002g0049 a0001c0001t0002g0054 a0001c0001t0002g0099 a0001c0001t0002g0103 a0001c0001t0002g0113 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0086 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0004g0004 a0001c0001t0004g0005 a0001c0001t0004g0037 a0001c0001t0004g0046 a0001c0001t0004g0047 a0001c0001t0004g0053 a0001c0001t0004g0055 a0001c0001t0004g0057 a0001c0001t0004g0071 a0001c0001t0004g0072 a0001c0001t0004g0073 a0001c0001t0004g0074 a0001c0001t0004g0075 a0001c0001t0004g0076 a0001c0001t0004g0077 a0001c0001t0004g0080 a0001c0001t0004g0089 a0001c0001t0004g0090 a0001c0001t0004g0110 a0001c0001t0004g0112 a0001c0001t0004g0117 a0001c0001t0006g0043 a0001c0001t0006g0044 a0001c0001t0006g0081 a0001c0001t0006g0087 a0001c0001t0018g0039 a0001c0001t0019g0041 a0002c0002t0001g0061 a0002c0002t0002g0109 a0003c0004t0001g0085	95	258	0.3682	8	c.-86 others(25): Show c.-86+1255_-86+1256insTGCCCTAC	ELOVL7	ENSG00000164181.14	transcript	ENST00000508821.6	protein_coding	1/8			chr5	TogoVar
ELP1_chr9_108862517_108939124	108905868	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02717.hp1 HG03098.hp2 others(8): Show HG02622.hp1 HG02717.hp1 HG03098.hp2 HG03209.hp1 HG03486.hp2 NA18984.hp2 NA18989.hp2 NA18998.hp2 NA19012.hp1 NA19030.hp2 NA19074.hp1	a0002 a0003 a0002 a0003	a0002c0003 a0002c0013 a0003c0005 a0002c0003 a0002c0013 a0003c0005	a0002c0003t0001 a0002c0013t0001 a0003c0005t0001 a0002c0003t0001 a0002c0013t0001 a0003c0005t0001	a0002c0003t0001g0007 a0002c0003t0001g0039 a0002c0003t0001g0040 others(7): Show a0002c0003t0001g0007 a0002c0003t0001g0039 a0002c0003t0001g0040 a0002c0003t0001g0041 a0002c0013t0001g0105 a0002c0013t0001g0106 a0002c0013t0001g0107 a0002c0013t0001g0130 a0002c0013t0001g0131 a0003c0005t0001g0252	11	416	0.0264	8	c.164 others(25): Show c.1643+427_1643+434dupGTGTGTGT	ELP1	ENSG00000070061.16	transcript	ENST00000374647.10	protein_coding	14/36			chr9	TogoVar
ELP2_chr18_36124899_36185557	36147407	T T	TTTTGTTT others(1): Show TTTTGTTTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00621.hp1 others(99): Show HG00099.hp1 HG00280.hp2 HG00621.hp1 HG00642.hp1 HG00733.hp2 HG00738.hp2 HG01069.hp1 HG01070.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01168.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp2 HG01261.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp2 HG01952.hp1 HG02071.hp1 HG02074.hp2 HG02109.hp1 HG02132.hp1 HG02258.hp2 HG02273.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03471.hp2 HG03490.hp1 HG03491.hp1 HG03579.hp1 HG03669.hp1 HG03710.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG06807.hp1 NA18942.hp2 NA18943.hp1 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18955.hp1 NA18957.hp1 NA18962.hp1 NA18964.hp2 NA18965.hp2 NA18970.hp1 NA18979.hp1 NA18980.hp2 NA18982.hp2 NA18985.hp2 NA18987.hp2 NA18988.hp2 NA18991.hp2 NA18994.hp2 NA18995.hp2 NA18999.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19055.hp2 NA19056.hp1 NA19058.hp1 NA19067.hp1 NA19068.hp1 NA19076.hp2 NA19077.hp1 NA19080.hp2 NA19082.hp2 NA19086.hp1 NA19089.hp1 NA19091.hp2 NA19240.hp1 NA21309.hp1	a0002 a0004 a0006 others(2): Show a0002 a0004 a0006 a0009 a0010	a0002c0002 a0004c0004 a0006c0005 others(2): Show a0002c0002 a0004c0004 a0006c0005 a0009c0016 a0010c0017	a0002c0002t0003 a0002c0002t0007 a0002c0002t0008 others(29): Show a0002c0002t0003 a0002c0002t0007 a0002c0002t0008 a0002c0002t0020 a0002c0002t0023 a0002c0002t0024 a0002c0002t0025 a0002c0002t0075 a0002c0002t0076 a0002c0002t0077 a0002c0002t0078 a0002c0002t0079 a0002c0002t0080 a0002c0002t0081 a0002c0002t0082 a0002c0002t0083 a0002c0002t0084 a0002c0002t0085 a0002c0002t0086 a0002c0002t0087 a0002c0002t0088 a0002c0002t0089 a0004c0004t0009 a0004c0004t0016 a0004c0004t0027 a0004c0004t0041 a0004c0004t0042 a0004c0004t0043 a0006c0005t0009 a0006c0005t0027 a0009c0016t0052 a0010c0017t0003	a0002c0002t0003g0001 a0002c0002t0003g0013 a0002c0002t0003g0015 others(98): Show a0002c0002t0003g0001 a0002c0002t0003g0013 a0002c0002t0003g0015 a0002c0002t0003g0284 a0002c0002t0003g0285 a0002c0002t0003g0288 a0002c0002t0003g0290 a0002c0002t0003g0291 a0002c0002t0003g0292 a0002c0002t0003g0293 a0002c0002t0003g0298 a0002c0002t0003g0299 a0002c0002t0003g0301 a0002c0002t0003g0304 a0002c0002t0003g0311 a0002c0002t0003g0312 a0002c0002t0003g0313 a0002c0002t0003g0314 a0002c0002t0003g0318 a0002c0002t0003g0321 a0002c0002t0003g0325 a0002c0002t0003g0326 a0002c0002t0003g0327 a0002c0002t0003g0331 a0002c0002t0003g0332 a0002c0002t0003g0333 a0002c0002t0003g0338 a0002c0002t0003g0346 a0002c0002t0003g0348 a0002c0002t0003g0350 a0002c0002t0003g0352 a0002c0002t0003g0359 a0002c0002t0007g0014 a0002c0002t0007g0281 a0002c0002t0007g0283 a0002c0002t0007g0303 a0002c0002t0007g0320 a0002c0002t0007g0330 a0002c0002t0007g0334 a0002c0002t0007g0339 a0002c0002t0007g0340 a0002c0002t0007g0341 a0002c0002t0007g0343 a0002c0002t0007g0344 a0002c0002t0008g0013 a0002c0002t0008g0016 a0002c0002t0008g0294 a0002c0002t0008g0305 a0002c0002t0008g0306 a0002c0002t0008g0307 a0002c0002t0008g0308 a0002c0002t0008g0309 a0002c0002t0008g0310 a0002c0002t0008g0345 a0002c0002t0020g0001 a0002c0002t0020g0295 a0002c0002t0020g0319 a0002c0002t0020g0342 a0002c0002t0023g0289 a0002c0002t0023g0296 a0002c0002t0023g0300 a0002c0002t0024g0297 a0002c0002t0024g0324 a0002c0002t0024g0329 a0002c0002t0025g0014 a0002c0002t0025g0282 a0002c0002t0025g0349 a0002c0002t0075g0001 a0002c0002t0076g0336 a0002c0002t0077g0315 a0002c0002t0078g0302 a0002c0002t0079g0316 a0002c0002t0080g0317 a0002c0002t0081g0287 a0002c0002t0082g0323 a0002c0002t0083g0016 a0002c0002t0084g0322 a0002c0002t0085g0347 a0002c0002t0086g0328 a0002c0002t0087g0335 a0002c0002t0088g0015 a0002c0002t0089g0351 a0004c0004t0009g0265 a0004c0004t0009g0268 a0004c0004t0009g0274 a0004c0004t0009g0275 a0004c0004t0009g0280 a0004c0004t0016g0266 a0004c0004t0016g0271 a0004c0004t0016g0272 a0004c0004t0016g0276 a0004c0004t0027g0269 a0004c0004t0041g0279 a0004c0004t0042g0264 a0004c0004t0043g0277 a0006c0005t0009g0267 a0006c0005t0009g0270 a0006c0005t0009g0273 a0006c0005t0027g0278 a0009c0016t0052g0051 a0010c0017t0003g0337	102	378	0.2698	8	c.112 others(27): Show c.1125+1042_1125+1049dupGTTTGTTT	ELP2	ENSG00000134759.14	transcript	ENST00000358232.11	protein_coding	11/21		INFO_REALIGN_3_PRIME	chr18	TogoVar
ELP2_chr18_36124899_36185557	36163273	G G	GGTGTGTG others(1): Show GGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00673.hp2 HG01256.hp2 others(47): Show HG00621.hp2 HG00673.hp2 HG01256.hp2 HG01934.hp2 HG01975.hp2 HG02027.hp2 HG02273.hp1 HG02559.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02970.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG04204.hp2 NA18942.hp1 NA18945.hp2 NA18954.hp1 NA18960.hp2 NA18974.hp1 NA18975.hp2 NA18979.hp2 NA18981.hp2 NA18982.hp1 NA18986.hp2 NA18988.hp1 NA18998.hp2 NA19000.hp1 NA19004.hp1 NA19005.hp2 NA19054.hp1 NA19057.hp2 NA19062.hp2 NA19080.hp1 NA19086.hp2 NA19090.hp2 NA20300.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0001 a0001c0013 a0002c0002 others(1): Show a0001c0001 a0001c0013 a0002c0002 a0012c0011	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(12): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0021 a0001c0001t0028 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0013t0001 a0002c0002t0003 a0002c0002t0089 a0012c0011t0090	a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0173 others(44): Show a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0173 a0001c0001t0004g0004 a0001c0001t0004g0008 a0001c0001t0004g0009 a0001c0001t0004g0053 a0001c0001t0004g0054 a0001c0001t0004g0169 a0001c0001t0004g0170 a0001c0001t0004g0205 a0001c0001t0004g0206 a0001c0001t0004g0209 a0001c0001t0004g0210 a0001c0001t0004g0212 a0001c0001t0004g0214 a0001c0001t0004g0215 a0001c0001t0004g0216 a0001c0001t0004g0217 a0001c0001t0004g0218 a0001c0001t0004g0219 a0001c0001t0004g0220 a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0004g0227 a0001c0001t0004g0229 a0001c0001t0004g0233 a0001c0001t0006g0118 a0001c0001t0006g0119 a0001c0001t0006g0122 a0001c0001t0021g0203 a0001c0001t0021g0208 a0001c0001t0021g0231 a0001c0001t0028g0213 a0001c0001t0028g0228 a0001c0001t0044g0211 a0001c0001t0045g0221 a0001c0001t0046g0207 a0001c0001t0047g0202 a0001c0001t0048g0234 a0001c0001t0049g0222 a0001c0013t0001g0058 a0002c0002t0003g0284 a0002c0002t0003g0286 a0002c0002t0003g0338 a0002c0002t0089g0351 a0012c0011t0090g0059	50	378	0.1323	8	c.176 others(27): Show c.1762-1201_1762-1200insTGTGTGTG	ELP2	ENSG00000134759.14	transcript	ENST00000358232.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr18	TogoVar
ELP2_chr18_36124899_36185557	36166319	G G	GTTTTTTT others(1): Show GTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02897.hp1 HG02922.hp1 others(4): Show HG02630.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG03130.hp2 HG03471.hp2 NA19240.hp1	a0004 a0006 a0004 a0006	a0004c0004 a0006c0005 a0004c0004 a0006c0005	a0004c0004t0009 a0004c0004t0016 a0004c0004t0027 others(3): Show a0004c0004t0009 a0004c0004t0016 a0004c0004t0027 a0004c0004t0043 a0006c0005t0009 a0006c0005t0027	a0004c0004t0009g0274 a0004c0004t0016g0266 a0004c0004t0027g0269 others(4): Show a0004c0004t0009g0274 a0004c0004t0016g0266 a0004c0004t0027g0269 a0004c0004t0043g0277 a0006c0005t0009g0267 a0006c0005t0009g0273 a0006c0005t0027g0278	7	378	0.0185	8	c.195 others(25): Show c.1955-761_1955-754dupTTTTTTTT	ELP2	ENSG00000134759.14	transcript	ENST00000358232.11	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr18	TogoVar
ELP3_chr8_28088139_28196153	28090478	G G	GGTGTGTG others(1): Show GGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00544.hp2 HG00558.hp1 others(44): Show HG00099.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG01884.hp2 HG01928.hp1 HG02015.hp1 HG02083.hp1 HG02145.hp2 HG02155.hp1 HG02258.hp2 HG02602.hp2 HG03486.hp2 HG03654.hp1 HG03669.hp1 HG03710.hp1 HG03831.hp2 HG03942.hp2 HG04184.hp1 NA18522.hp2 NA18906.hp1 NA18940.hp1 NA18947.hp1 NA18948.hp1 NA18950.hp2 NA18953.hp1 NA18956.hp1 NA18957.hp2 NA18961.hp1 NA18963.hp2 NA18964.hp2 NA18985.hp1 NA18985.hp2 NA18987.hp2 NA18991.hp1 NA18994.hp2 NA18998.hp1 NA19000.hp2 NA19003.hp1 NA19005.hp1 NA19043.hp1 NA19060.hp2 NA19076.hp2 NA19082.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0002t0009 a0001c0003t0008	a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0156 others(43): Show a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0173 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0002g0060 a0001c0001t0002g0130 a0001c0001t0003g0203 a0001c0001t0006g0253 a0001c0002t0009g0143 a0001c0003t0008g0106 a0001c0003t0008g0108 a0001c0003t0008g0109	47	398	0.1181	8	c.-27 others(19): Show c.-2737_-2736insGTGTGTGT	ELP3	ENSG00000134014.18	transcript	ENST00000256398.13	protein_coding		2660		chr8	TogoVar
ELP3_chr8_28088139_28196153	28090482	G G	GGTGTGTG others(1): Show GGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00621.hp1 HG00735.hp1 others(13): Show HG00558.hp2 HG00621.hp1 HG00735.hp1 HG01192.hp2 HG01891.hp1 HG01952.hp2 HG02630.hp2 HG02809.hp1 HG03209.hp1 HG04184.hp2 NA18957.hp1 NA18960.hp2 NA18993.hp2 NA18994.hp1 NA19007.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0019 a0001c0001t0004 a0001c0001t0007 a0001c0001t0019	a0001c0001t0004g0018 a0001c0001t0004g0019 a0001c0001t0004g0021 others(12): Show a0001c0001t0004g0018 a0001c0001t0004g0019 a0001c0001t0004g0021 a0001c0001t0004g0264 a0001c0001t0004g0268 a0001c0001t0004g0271 a0001c0001t0004g0281 a0001c0001t0004g0282 a0001c0001t0004g0283 a0001c0001t0004g0292 a0001c0001t0007g0150 a0001c0001t0007g0151 a0001c0001t0007g0152 a0001c0001t0007g0153 a0001c0001t0019g0291	16	398	0.0402	8	c.-27 others(19): Show c.-2733_-2732insGTGTGTGT	ELP3	ENSG00000134014.18	transcript	ENST00000256398.13	protein_coding		2656		chr8	TogoVar
ELP3_chr8_28088139_28196153	28123828	G G	GTCACAGC others(1): Show GTCACAGCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(315): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19067.hp1 NA19067.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0002t0001 a0001c0002t0009 a0001c0002t0011 a0001c0003t0008 a0001c0004t0001 a0002c0005t0002	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(294): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0103 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0297 a0001c0001t0001g0369 a0001c0001t0001g0370 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0038 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0028 a0001c0001t0003g0177 a0001c0001t0003g0187 a0001c0001t0003g0189 a0001c0001t0003g0203 a0001c0001t0003g0212 a0001c0001t0003g0216 a0001c0001t0004g0002 a0001c0001t0004g0017 a0001c0001t0004g0018 a0001c0001t0004g0019 a0001c0001t0004g0020 a0001c0001t0004g0021 a0001c0001t0004g0245 a0001c0001t0004g0246 a0001c0001t0004g0247 a0001c0001t0004g0248 a0001c0001t0004g0249 a0001c0001t0004g0250 a0001c0001t0004g0251 a0001c0001t0004g0252 a0001c0001t0004g0259 a0001c0001t0004g0260 a0001c0001t0004g0261 a0001c0001t0004g0262 a0001c0001t0004g0263 a0001c0001t0004g0264 a0001c0001t0004g0265 a0001c0001t0004g0266 a0001c0001t0004g0267 a0001c0001t0004g0268 a0001c0001t0004g0269 a0001c0001t0004g0270 a0001c0001t0004g0271 a0001c0001t0004g0272 a0001c0001t0004g0273 a0001c0001t0004g0274 a0001c0001t0004g0275 a0001c0001t0004g0276 a0001c0001t0004g0277 a0001c0001t0004g0280 a0001c0001t0004g0281 a0001c0001t0004g0282 a0001c0001t0004g0283 a0001c0001t0004g0284 a0001c0001t0004g0288 a0001c0001t0004g0289 a0001c0001t0004g0290 a0001c0001t0004g0292 a0001c0001t0004g0293 a0001c0001t0004g0294 a0001c0001t0004g0295 a0001c0001t0004g0298 a0001c0001t0004g0299 a0001c0001t0004g0300 a0001c0001t0004g0302 a0001c0001t0004g0303 a0001c0001t0004g0304 a0001c0001t0004g0305 a0001c0001t0004g0306 a0001c0001t0005g0239 a0001c0001t0005g0258 a0001c0001t0005g0278 a0001c0001t0005g0279 a0001c0001t0005g0285 a0001c0001t0005g0286 a0001c0001t0005g0287 a0001c0001t0005g0296 a0001c0001t0005g0301 a0001c0001t0006g0240 a0001c0001t0006g0253 a0001c0001t0006g0254 a0001c0001t0006g0255 a0001c0001t0006g0256 a0001c0001t0006g0257 a0001c0001t0007g0150 a0001c0001t0007g0151 a0001c0001t0007g0152 a0001c0001t0007g0153 a0001c0001t0007g0154 a0001c0001t0007g0155 a0001c0001t0010g0169 a0001c0001t0014g0209 a0001c0001t0016g0002 a0001c0001t0017g0027 a0001c0001t0018g0244 a0001c0001t0019g0291 a0001c0002t0001g0148 a0001c0002t0009g0141 a0001c0002t0009g0142 a0001c0002t0009g0143 a0001c0002t0009g0146 a0001c0002t0009g0147 a0001c0002t0011g0144 a0001c0002t0011g0149 a0001c0003t0008g0104 a0001c0003t0008g0105 a0001c0003t0008g0106 a0001c0003t0008g0107 a0001c0003t0008g0108 a0001c0003t0008g0109 a0001c0004t0001g0145 a0002c0005t0002g0127	318	398	0.7990	8	c.618 others(25): Show c.618-5671_618-5670insCAGCCTCA	ELP3	ENSG00000134014.18	transcript	ENST00000256398.13	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
ELP3_chr8_28088139_28196153	28194504	T T	TACACACA others(1): Show TACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG01099.hp1 HG01099.hp2 others(10): Show HG00408.hp2 HG01099.hp1 HG01099.hp2 HG01243.hp2 HG02004.hp1 HG02055.hp2 HG02109.hp1 HG03225.hp1 NA18940.hp1 NA18991.hp1 NA19005.hp1 NA19043.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0202 others(8): Show a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0202 a0001c0001t0002g0075 a0001c0001t0002g0092 a0001c0001t0003g0230 a0001c0001t0003g0238 a0001c0001t0003g0318 a0001c0001t0003g0326 a0001c0001t0003g0330 a0001c0001t0003g0346	13	398	0.0327	8	c.47 others(19): Show c.4779_*4780insACACACAC	ELP3	ENSG00000134014.18	transcript	ENST00000256398.13	protein_coding		3352		chr8	TogoVar
ELP4_chr11_31504767_31795324	31534266	G G	GGTGTGTG others(1): Show GGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01891.hp2 HG01981.hp1 others(24): Show HG00639.hp2 HG01891.hp2 HG01981.hp1 HG01993.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02258.hp2 HG02273.hp1 HG02630.hp1 HG02647.hp2 HG02809.hp1 HG02809.hp2 HG02897.hp2 HG02922.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA19086.hp1 NA19240.hp2 NA20129.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0006 a0001c0001 a0001c0002 a0005c0006	a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 others(18): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0052 a0001c0001t0061 a0001c0001t0062 a0001c0001t0073 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0002t0014 a0001c0002t0024 a0005c0006t0032	a0001c0001t0004g0075 a0001c0001t0004g0078 a0001c0001t0005g0264 others(24): Show a0001c0001t0004g0075 a0001c0001t0004g0078 a0001c0001t0005g0264 a0001c0001t0006g0227 a0001c0001t0006g0229 a0001c0001t0006g0230 a0001c0001t0006g0231 a0001c0001t0006g0234 a0001c0001t0007g0089 a0001c0001t0008g0270 a0001c0001t0009g0240 a0001c0001t0011g0011 a0001c0001t0016g0236 a0001c0001t0017g0266 a0001c0001t0017g0268 a0001c0001t0019g0233 a0001c0001t0020g0228 a0001c0001t0052g0267 a0001c0001t0061g0086 a0001c0001t0062g0265 a0001c0001t0073g0237 a0001c0001t0079g0249 a0001c0001t0080g0250 a0001c0001t0081g0223 a0001c0002t0014g0246 a0001c0002t0024g0248 a0005c0006t0032g0253	27	270	0.1000	8	c.260 others(25): Show c.260-5377_260-5370dupGTGTGTGT	ELP4	ENSG00000109911.19	transcript	ENST00000640961.2	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
ELP4_chr11_31504767_31795324	31553725	A A	AACACACA others(1): Show AACACACAC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02630.hp2 HG02896.hp2 others(10): Show HG01934.hp1 HG02630.hp2 HG02896.hp2 HG02897.hp1 NA18943.hp1 NA18947.hp2 NA18951.hp1 NA18967.hp2 NA18978.hp2 NA18998.hp1 NA19070.hp2 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0027 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0027 a0001c0001t0033 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069	a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0064 others(10): Show a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0076 a0001c0001t0004g0043 a0001c0001t0004g0091 a0001c0001t0027g0050 a0001c0001t0033g0060 a0001c0001t0067g0161 a0001c0001t0068g0039 a0001c0001t0069g0080	13	270	0.0482	8	c.381 others(27): Show c.381+13975_381+13982dupACACACAC	ELP4	ENSG00000109911.19	transcript	ENST00000640961.2	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
ELP4_chr11_31504767_31795324	31623378	T T	TATATATA others(1): Show TATATATAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01175.hp1 HG02135.hp2 others(11): Show HG01081.hp2 HG01175.hp1 HG02135.hp2 HG02300.hp2 HG03195.hp1 HG03492.hp2 HG03831.hp1 HG04115.hp1 NA18946.hp1 NA18947.hp2 NA18971.hp2 NA19004.hp2 NA19070.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008	a0001c0001t0001g0019 a0001c0001t0001g0046 a0001c0001t0001g0052 others(11): Show a0001c0001t0001g0019 a0001c0001t0001g0046 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0255 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0004g0044 a0001c0001t0004g0051 a0001c0001t0004g0075 a0001c0001t0007g0045 a0001c0001t0008g0092	14	270	0.0519	8	c.654 others(25): Show c.654-3725_654-3724insAATATATA	ELP4	ENSG00000109911.19	transcript	ENST00000640961.2	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
ELP4_chr11_31504767_31795324	31623390	T T	TATATATA others(1): Show TATATATAA	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02572.hp1 HG02698.hp1 others(8): Show HG02300.hp1 HG02572.hp1 HG02698.hp1 HG02922.hp1 HG03195.hp2 HG03239.hp1 HG03540.hp2 NA18945.hp1 NA18947.hp1 NA18974.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 others(6): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0016 a0001c0001t0017 a0001c0001t0022 a0001c0001t0046 a0001c0001t0079	a0001c0001t0002g0100 a0001c0001t0002g0143 a0001c0001t0002g0167 others(8): Show a0001c0001t0002g0100 a0001c0001t0002g0143 a0001c0001t0002g0167 a0001c0001t0005g0131 a0001c0001t0006g0170 a0001c0001t0010g0132 a0001c0001t0016g0171 a0001c0001t0017g0268 a0001c0001t0022g0259 a0001c0001t0046g0172 a0001c0001t0079g0249	11	270	0.0407	8	c.654 others(25): Show c.654-3719_654-3718insTATATAAA	ELP4	ENSG00000109911.19	transcript	ENST00000640961.2	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
ELP4_chr11_31504767_31795324	31628436	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG02818.hp1 NA18990.hp1 NA19070.hp1 HG02818.hp1 NA18990.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0029 a0001c0001t0048 a0001c0001t0010 a0001c0001t0029 a0001c0001t0048	a0001c0001t0010g0009 a0001c0001t0029g0164 a0001c0001t0048g0215 a0001c0001t0010g0009 a0001c0001t0029g0164 a0001c0001t0048g0215	3	270	0.0111	8	c.738 others(25): Show c.738+1268_738+1275dupCACACACA	ELP4	ENSG00000109911.19	transcript	ENST00000640961.2	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
ELP4_chr11_31504767_31795324	31731567	G G	GGTGTGTG others(1): Show GGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01361.hp2 others(19): Show HG01168.hp1 HG01169.hp1 HG01361.hp2 HG01884.hp2 HG02055.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02647.hp2 HG02809.hp2 HG03041.hp1 HG03195.hp1 HG03209.hp1 NA18522.hp2 NA18943.hp1 NA18951.hp1 NA18967.hp2 NA18974.hp2 NA18977.hp1 NA18989.hp1 NA19030.hp1 NA19065.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0017 a0001c0001t0019 a0001c0001t0057 a0001c0001t0061 a0001c0001t0064 a0001c0001t0067 a0001c0001t0068 a0002c0003t0004 a0002c0003t0082	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0003g0181 others(19): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0003g0181 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0213 a0001c0001t0004g0001 a0001c0001t0004g0091 a0001c0001t0005g0005 a0001c0001t0005g0006 a0001c0001t0005g0061 a0001c0001t0007g0089 a0001c0001t0008g0092 a0001c0001t0017g0007 a0001c0001t0019g0095 a0001c0001t0057g0087 a0001c0001t0061g0086 a0001c0001t0064g0239 a0001c0001t0067g0161 a0001c0001t0068g0039 a0002c0003t0004g0022 a0002c0003t0082g0207	22	270	0.0815	8	c.114 others(29): Show c.1144-51799_1144-51792dupGTGTGTGT	ELP4	ENSG00000109911.19	transcript	ENST00000640961.2	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
ELSPBP1_chr19_47989632_48030154	48029798	C C	CAGAGAGA others(1): Show CAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00741.hp2 HG02895.hp1 others(11): Show HG00558.hp1 HG00741.hp2 HG02895.hp1 HG03041.hp1 HG03139.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18943.hp2 NA18971.hp1 NA18971.hp2 NA18993.hp2 NA19068.hp1 NA19085.hp2	a0001 a0002 a0010 others(1): Show a0001 a0002 a0010 a0017	a0001c0001 a0002c0002 a0010c0011 others(1): Show a0001c0001 a0002c0002 a0010c0011 a0017c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0002c0002t0001 a0010c0011t0001 a0017c0021t0002	a0001c0001t0001g0023 a0001c0001t0001g0051 a0001c0001t0001g0110 others(11): Show a0001c0001t0001g0023 a0001c0001t0001g0051 a0001c0001t0001g0110 a0001c0001t0001g0115 a0001c0001t0001g0276 a0001c0001t0001g0299 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0359 a0001c0001t0002g0148 a0001c0001t0005g0067 a0002c0002t0001g0355 a0010c0011t0001g0251 a0017c0021t0002g0254	14	388	0.0361	8	c.48 others(19): Show c.4854_*4855insAGAGAGAG	ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding		4645		chr19	TogoVar
EMB_chr5_50391192_50446288	50419536	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp2 HG00544.hp2 others(51): Show HG00280.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00735.hp1 HG00741.hp1 HG01070.hp1 HG01071.hp1 HG01243.hp2 HG01256.hp2 HG01358.hp2 HG02027.hp1 HG02074.hp1 HG02129.hp1 HG02155.hp1 HG02293.hp2 HG02486.hp2 HG02615.hp1 HG02976.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03710.hp1 HG03831.hp2 HG04115.hp2 NA18612.hp1 NA18939.hp1 NA18940.hp2 NA18942.hp1 NA18943.hp2 NA18949.hp2 NA18951.hp2 NA18953.hp1 NA18955.hp1 NA18959.hp1 NA18961.hp2 NA18965.hp2 NA18971.hp1 NA18980.hp1 NA18981.hp2 NA18989.hp2 NA18993.hp2 NA18999.hp1 NA19000.hp1 NA19005.hp2 NA19060.hp2 NA19065.hp1 NA19079.hp2 NA19082.hp1 NA19085.hp2 NA19087.hp2 NA20129.hp1 NA20752.hp1 NA20905.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0003 a0004c0009 a0001c0001 a0002c0003 a0004c0009	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(6): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0002c0003t0002 a0004c0009t0002	a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0006 others(38): Show a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0012 a0001c0001t0002g0060 a0001c0001t0002g0063 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0072 a0001c0001t0002g0075 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0096 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0112 a0001c0001t0002g0114 a0001c0001t0004g0095 a0001c0001t0004g0113 a0001c0001t0007g0018 a0001c0001t0007g0088 a0001c0001t0007g0123 a0001c0001t0007g0124 a0001c0001t0007g0125 a0001c0001t0007g0165 a0001c0001t0007g0166 a0001c0001t0007g0167 a0001c0001t0007g0168 a0001c0001t0012g0052 a0001c0001t0012g0053 a0001c0001t0013g0076 a0001c0001t0013g0132 a0001c0001t0014g0073 a0001c0001t0014g0079 a0001c0001t0016g0074 a0002c0003t0002g0087 a0004c0009t0002g0069	54	346	0.1561	8	c.197 others(25): Show c.197-8161_197-8154dupGTGTGTGT	EMB	ENSG00000170571.12	transcript	ENST00000303221.10	protein_coding	2/8			chr5	TogoVar
EMB_chr5_50391192_50446288	50419548	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01433.hp2 HG02109.hp2 others(16): Show HG01192.hp1 HG01433.hp2 HG02109.hp2 HG02257.hp2 HG02280.hp1 HG02622.hp2 HG02717.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG03453.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 others(1): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0002t0004	a0001c0001t0004g0010 a0001c0001t0004g0099 a0001c0001t0005g0016 others(12): Show a0001c0001t0004g0010 a0001c0001t0004g0099 a0001c0001t0005g0016 a0001c0001t0005g0029 a0001c0001t0005g0065 a0001c0001t0005g0100 a0001c0001t0005g0101 a0001c0001t0005g0104 a0001c0001t0005g0248 a0001c0001t0005g0249 a0001c0001t0005g0251 a0001c0001t0005g0279 a0001c0001t0008g0023 a0001c0001t0008g0186 a0001c0002t0004g0289	19	346	0.0549	8	c.197 others(25): Show c.197-8173_197-8166dupGTGTGTGT	EMB	ENSG00000170571.12	transcript	ENST00000303221.10	protein_coding	2/8			chr5	TogoVar
EMC10_chr19_50471507_50495871	50472090	A A	ATATACGT others(1): Show ATATACGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00438.hp1 others(28): Show HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG01109.hp1 HG02056.hp1 HG02165.hp1 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02723.hp2 HG02738.hp1 HG02896.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03209.hp2 HG03831.hp2 HG04115.hp1 NA18612.hp2 NA18973.hp2 NA18977.hp1 NA19002.hp2 NA19066.hp2 NA19068.hp1 NA19074.hp1 NA19081.hp1 NA19085.hp1 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0005 a0001c0002 a0004c0005	a0001c0002t0004 a0001c0002t0018 a0001c0002t0019 others(15): Show a0001c0002t0004 a0001c0002t0018 a0001c0002t0019 a0001c0002t0034 a0001c0002t0053 a0001c0002t0054 a0001c0002t0086 a0001c0002t0089 a0001c0002t0095 a0001c0002t0098 a0001c0002t0100 a0001c0002t0161 a0001c0002t0163 a0001c0002t0164 a0001c0002t0165 a0001c0002t0166 a0001c0002t0168 a0004c0005t0099	a0001c0002t0004g0006 a0001c0002t0018g0005 a0001c0002t0018g0020 others(17): Show a0001c0002t0004g0006 a0001c0002t0018g0005 a0001c0002t0018g0020 a0001c0002t0019g0020 a0001c0002t0019g0052 a0001c0002t0034g0005 a0001c0002t0053g0005 a0001c0002t0054g0005 a0001c0002t0086g0006 a0001c0002t0089g0043 a0001c0002t0095g0005 a0001c0002t0098g0006 a0001c0002t0100g0005 a0001c0002t0161g0003 a0001c0002t0163g0005 a0001c0002t0164g0005 a0001c0002t0165g0005 a0001c0002t0166g0005 a0001c0002t0168g0005 a0004c0005t0099g0005	31	352	0.0881	8	c.-44 others(19): Show c.-4455_-4454insTATACGTG	EMC10	ENSG00000161671.17	transcript	ENST00000334976.11	protein_coding		4416		chr19	TogoVar
EMC1_chr1_19210660_19256524	19245627	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00735.hp1 HG01943.hp2 others(5): Show HG00642.hp2 HG00735.hp1 HG01943.hp2 HG01993.hp2 HG02155.hp2 HG02683.hp2 HG02965.hp1 NA19003.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0006 a0003c0003 a0001c0001 a0001c0006 a0003c0003	a0001c0001t0002 a0001c0001t0005 a0001c0006t0003 others(3): Show a0001c0001t0002 a0001c0001t0005 a0001c0006t0003 a0003c0003t0009 a0003c0003t0013 a0003c0003t0026	a0001c0001t0002g0097 a0001c0001t0002g0180 a0001c0001t0005g0139 others(5): Show a0001c0001t0002g0097 a0001c0001t0002g0180 a0001c0001t0005g0139 a0001c0006t0003g0070 a0003c0003t0009g0233 a0003c0003t0009g0236 a0003c0003t0013g0237 a0003c0003t0026g0235	8	350	0.0229	8	c.96- others(21): Show c.96-605_96-598dupAAAAAAAA	EMC1	ENSG00000127463.16	transcript	ENST00000477853.6	protein_coding	1/22			chr1	TogoVar
EMC2_chr8_108438624_108494196	108459703	T T	TGAGAGAG others(1): Show TGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp1 HG00621.hp2 others(68): Show HG00438.hp2 HG00621.hp1 HG00621.hp2 HG00738.hp2 HG01069.hp2 HG01071.hp1 HG01081.hp1 HG01123.hp2 HG01516.hp1 HG01517.hp1 HG01934.hp1 HG01975.hp1 HG02040.hp2 HG02074.hp1 HG02155.hp2 HG02293.hp1 HG02523.hp1 HG02683.hp1 HG02698.hp1 HG02735.hp1 HG02738.hp2 HG03017.hp2 HG03239.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03927.hp2 HG04184.hp1 HG04228.hp1 NA18522.hp1 NA18612.hp2 NA18943.hp1 NA18945.hp1 NA18948.hp2 NA18951.hp2 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18963.hp1 NA18973.hp2 NA18976.hp2 NA18978.hp2 NA18979.hp1 NA18981.hp2 NA18983.hp1 NA18985.hp1 NA18986.hp1 NA18991.hp1 NA18993.hp2 NA18994.hp2 NA19001.hp2 NA19005.hp1 NA19007.hp1 NA19057.hp2 NA19058.hp1 NA19062.hp1 NA19066.hp2 NA19072.hp2 NA19074.hp1 NA19079.hp2 NA19081.hp1 NA19082.hp2 NA19084.hp1 NA19085.hp1 NA19088.hp2 NA19091.hp2 NA20805.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0002 a0001c0001t0005 a0001c0001t0013 others(4): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0013 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0003c0004t0002	a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0006 others(50): Show a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0009 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0046 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0102 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0134 a0001c0001t0002g0136 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0144 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0274 a0001c0001t0005g0162 a0001c0001t0013g0003 a0001c0001t0029g0003 a0001c0001t0030g0257 a0001c0001t0031g0118 a0003c0004t0002g0135	71	364	0.1951	8	c.363 others(25): Show c.363+3785_363+3792dupAGAGAGAG	EMC2	ENSG00000104412.8	transcript	ENST00000220853.8	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
EMC2_chr8_108438624_108494196	108459721	A A	AGAGAGAG others(1): Show AGAGAGAGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp2 others(43): Show HG00099.hp1 HG00280.hp1 HG00323.hp2 HG00423.hp2 HG00609.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01099.hp1 HG01106.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01891.hp2 HG01952.hp1 HG02015.hp1 HG02027.hp2 HG02074.hp2 HG02109.hp2 HG02132.hp2 HG02165.hp1 HG02280.hp2 HG02698.hp2 HG02809.hp2 HG03041.hp2 HG03130.hp1 HG03209.hp1 HG03471.hp1 HG03490.hp2 HG03491.hp1 HG03669.hp2 HG03710.hp1 HG03942.hp2 HG04204.hp2 NA18947.hp2 NA18950.hp1 NA18964.hp2 NA18975.hp1 NA19006.hp2 NA19010.hp1 NA19012.hp2 NA19070.hp1 NA19084.hp2 NA20129.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0026 a0001c0002t0003 a0001c0001t0003 a0001c0001t0026 a0001c0002t0003	a0001c0001t0003g0002 a0001c0001t0003g0008 a0001c0001t0003g0018 others(29): Show a0001c0001t0003g0002 a0001c0001t0003g0008 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0026 a0001c0001t0003g0057 a0001c0001t0003g0059 a0001c0001t0003g0062 a0001c0001t0003g0064 a0001c0001t0003g0068 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0080 a0001c0001t0003g0084 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0026g0079 a0001c0002t0003g0085 a0001c0002t0003g0086	46	364	0.1264	8	c.363 others(25): Show c.363+3792_363+3793insAGAGAGTG	EMC2	ENSG00000104412.8	transcript	ENST00000220853.8	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
EMC2_chr8_108438624_108494196	108459721	A A	AGAGAGTG others(1): Show AGAGAGTGT	intron_variant intron_variant	MODIFIER	HG03831.hp2 NA18981.hp1 NA18993.hp1 others(1): Show HG03831.hp2 NA18981.hp1 NA18993.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0035 a0001c0001t0001g0225 a0001c0001t0012g0054 a0001c0001t0001g0035 a0001c0001t0001g0225 a0001c0001t0012g0054	4	364	0.0110	8	c.363 others(25): Show c.363+3792_363+3793insAGAGTGTG	EMC2	ENSG00000104412.8	transcript	ENST00000220853.8	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
EMC3_chr3_9957682_9991841	9965416	C C	CGATAGAT others(1): Show CGATAGATA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02257.hp1 HG02293.hp2 others(29): Show HG00621.hp1 HG02257.hp1 HG02293.hp2 HG02622.hp1 HG02809.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03453.hp2 HG03471.hp2 HG03710.hp1 HG06807.hp1 NA18612.hp1 NA18961.hp1 NA18962.hp2 NA18966.hp1 NA18971.hp1 NA18978.hp1 NA18979.hp2 NA18992.hp2 NA19004.hp1 NA19043.hp2 NA19056.hp2 NA19066.hp1 NA19079.hp1 NA19083.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0023 a0001c0001t0026 a0001c0001t0031 a0001c0001t0038 a0001c0001t0054 a0001c0001t0066	a0001c0001t0001g0107 a0001c0001t0001g0125 a0001c0001t0001g0154 others(28): Show a0001c0001t0001g0107 a0001c0001t0001g0125 a0001c0001t0001g0154 a0001c0001t0001g0201 a0001c0001t0001g0222 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0042 a0001c0001t0002g0052 a0001c0001t0002g0062 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0253 a0001c0001t0003g0197 a0001c0001t0005g0135 a0001c0001t0007g0121 a0001c0001t0007g0141 a0001c0001t0007g0213 a0001c0001t0008g0017 a0001c0001t0008g0274 a0001c0001t0008g0277 a0001c0001t0011g0097 a0001c0001t0012g0104 a0001c0001t0023g0175 a0001c0001t0026g0057 a0001c0001t0031g0081 a0001c0001t0038g0126 a0001c0001t0054g0044 a0001c0001t0066g0272	32	322	0.0994	8	c.658 others(25): Show c.658-1227_658-1220dupTATCTATC	EMC3	ENSG00000125037.13	transcript	ENST00000245046.7	protein_coding	7/7			chr3	TogoVar
EMC3_chr3_9957682_9991841	9990325	C C	CTTTTTTT others(1): Show CTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02257.hp2 HG02451.hp1 others(5): Show HG02145.hp2 HG02257.hp2 HG02451.hp1 HG02559.hp1 HG02630.hp2 HG03516.hp1 NA18906.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0068 a0001c0001t0004 a0001c0001t0068	a0001c0001t0004g0290 a0001c0001t0004g0294 a0001c0001t0004g0295 others(5): Show a0001c0001t0004g0290 a0001c0001t0004g0294 a0001c0001t0004g0295 a0001c0001t0004g0296 a0001c0001t0004g0297 a0001c0001t0004g0298 a0001c0001t0004g0300 a0001c0001t0068g0292	8	322	0.0248	8	c.-36 others(19): Show c.-3672_-3665dupAAAAAAAA	EMC3	ENSG00000125037.13	transcript	ENST00000245046.7	protein_coding		3485		chr3	TogoVar
EMC7_chr15_34079017_34106862	34092261	T T	TCACACAC others(1): Show TCACACACA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01106.hp2 HG01109.hp2 others(15): Show HG00099.hp2 HG01106.hp2 HG01109.hp2 HG02015.hp1 HG02027.hp2 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02258.hp2 HG02622.hp1 HG02717.hp1 HG03209.hp1 HG03486.hp2 HG04204.hp1 NA18941.hp2 NA18951.hp1 NA18985.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0001g0064 others(13): Show a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0001g0064 a0001c0001t0001g0074 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0200 a0001c0001t0001g0217 a0001c0001t0001g0227 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0271 a0001c0001t0001g0293 a0001c0001t0001g0294	18	410	0.0439	8	c.357 others(25): Show c.357-1814_357-1807dupTGTGTGTG	EMC7	ENSG00000134153.10	transcript	ENST00000256545.9	protein_coding	2/4			chr15	TogoVar
EMC7_chr15_34079017_34106862	34093782	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01069.hp1 HG01071.hp1 others(19): Show HG00609.hp2 HG01069.hp1 HG01071.hp1 HG02071.hp1 HG02922.hp1 NA18941.hp1 NA18960.hp2 NA18962.hp1 NA18964.hp1 NA18968.hp1 NA18970.hp2 NA18980.hp2 NA18983.hp2 NA18990.hp1 NA18999.hp2 NA19003.hp2 NA19004.hp1 NA19005.hp2 NA19068.hp2 NA19074.hp1 NA19078.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0001t0001g0016 others(9): Show a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0053 a0001c0001t0001g0073 a0001c0001t0001g0198 a0001c0001t0001g0207 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0222	22	410	0.0537	8	c.356 others(25): Show c.356+2105_356+2112dupGTGTGTGT	EMC7	ENSG00000134153.10	transcript	ENST00000256545.9	protein_coding	2/4			chr15	TogoVar
EMC7_chr15_34079017_34106862	34093805	A A	ACACACAC others(1): Show ACACACACG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(18): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00738.hp1 HG01069.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01169.hp1 HG01192.hp2 HG01257.hp1 HG01258.hp1 HG01515.hp1 HG01516.hp2 HG02602.hp1 HG02602.hp2 HG02738.hp2 HG03017.hp1 HG04228.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 others(14): Show a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0002c0003t0001g0249	21	410	0.0512	8	c.356 others(25): Show c.356+2089_356+2090insCGTGTGTG	EMC7	ENSG00000134153.10	transcript	ENST00000256545.9	protein_coding	2/4			chr15	TogoVar
EMC7_chr15_34079017_34106862	34093823	A A	ATTTTTTT others(1): Show ATTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02056.hp1 HG02080.hp2 others(20): Show HG00438.hp2 HG02056.hp1 HG02080.hp2 HG02486.hp2 HG02572.hp2 HG02723.hp1 HG02965.hp1 HG03017.hp2 HG03041.hp1 HG03490.hp1 HG03492.hp1 HG03834.hp1 HG03942.hp1 HG04184.hp1 HG06807.hp2 NA18941.hp2 NA18942.hp1 NA18951.hp1 NA18955.hp1 NA18995.hp2 NA19060.hp1 NA19062.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0004 a0001c0001t0001g0044 a0001c0001t0001g0068 others(15): Show a0001c0001t0001g0004 a0001c0001t0001g0044 a0001c0001t0001g0068 a0001c0001t0001g0259 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0301 a0001c0001t0001g0313 a0001c0001t0001g0315 a0001c0002t0001g0050	23	410	0.0561	8	c.356 others(25): Show c.356+2064_356+2071dupAAAAAAAA	EMC7	ENSG00000134153.10	transcript	ENST00000256545.9	protein_coding	2/4			chr15	TogoVar
EMC9_chr14_24133965_24146591	24135105	A A	AACACACA others(1): Show AACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00558.hp2 HG00621.hp1 others(59): Show HG00438.hp2 HG00558.hp2 HG00621.hp1 HG01256.hp1 HG01258.hp1 HG01361.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp2 HG01928.hp1 HG01952.hp2 HG01975.hp1 HG02055.hp2 HG02056.hp2 HG02135.hp1 HG02145.hp2 HG02258.hp2 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02615.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02818.hp2 HG02886.hp2 HG03041.hp2 HG03098.hp1 HG03225.hp1 HG03486.hp2 HG03490.hp2 HG03540.hp2 HG03669.hp1 HG03704.hp2 HG04115.hp2 HG06807.hp1 NA18941.hp2 NA18943.hp1 NA18946.hp1 NA18946.hp2 NA18962.hp2 NA18966.hp1 NA18970.hp1 NA18974.hp2 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18994.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19043.hp2 NA19054.hp1 NA19057.hp2 NA19064.hp2 NA19070.hp1 NA19074.hp1 NA19083.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(3): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0034	62	422	0.1469	8	c.39 others(19): Show c.3904_*3905insGTGTGTGT	EMC9	ENSG00000100908.14	transcript	ENST00000216799.9	protein_coding		3859		chr14	TogoVar
EMCN_chr4_100390341_100523022	100425149	G G	GCACACAC others(1): Show GCACACACA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01070.hp1 HG01070.hp2 others(16): Show HG00735.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01261.hp1 HG01433.hp2 HG02717.hp2 HG02922.hp1 HG02970.hp2 HG03225.hp1 HG03486.hp2 HG03831.hp1 HG03942.hp2 NA19058.hp2 NA19064.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0005 a0001c0001 a0002c0002 a0004c0005	a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 others(5): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0020 a0002c0002t0001 a0002c0002t0007 a0002c0002t0026 a0004c0005t0017	a0001c0001t0002g0007 a0001c0001t0002g0011 a0001c0001t0002g0033 others(16): Show a0001c0001t0002g0007 a0001c0001t0002g0011 a0001c0001t0002g0033 a0001c0001t0002g0184 a0001c0001t0002g0226 a0001c0001t0002g0229 a0001c0001t0002g0232 a0001c0001t0005g0201 a0001c0001t0007g0124 a0001c0001t0020g0023 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0068 a0002c0002t0007g0163 a0002c0002t0007g0164 a0002c0002t0007g0165 a0002c0002t0007g0168 a0002c0002t0026g0049 a0004c0005t0017g0020	19	262	0.0725	8	c.416 others(25): Show c.416-1753_416-1746dupTGTGTGTG	EMCN	ENSG00000164035.10	transcript	ENST00000296420.9	protein_coding	5/11			chr4	TogoVar
EMCN_chr4_100390341_100523022	100448795	T T	TTTTCTTT others(1): Show TTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00738.hp2 HG01069.hp1 others(11): Show HG00597.hp1 HG00738.hp2 HG01069.hp1 HG01071.hp2 HG01261.hp1 HG01346.hp2 HG02896.hp1 HG02970.hp1 HG03491.hp1 HG03942.hp2 HG06807.hp1 NA18747.hp2 NA19060.hp2 NA19083.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0005c0007	a0001c0001t0002 a0001c0001t0004 a0002c0002t0001 others(3): Show a0001c0001t0002 a0001c0001t0004 a0002c0002t0001 a0002c0002t0016 a0003c0003t0035 a0005c0007t0002	a0001c0001t0002g0177 a0001c0001t0002g0179 a0001c0001t0002g0203 others(10): Show a0001c0001t0002g0177 a0001c0001t0002g0179 a0001c0001t0002g0203 a0001c0001t0002g0221 a0001c0001t0002g0223 a0001c0001t0002g0226 a0001c0001t0002g0229 a0001c0001t0002g0239 a0001c0001t0004g0131 a0002c0002t0001g0002 a0002c0002t0016g0110 a0003c0003t0035g0198 a0005c0007t0002g0209	14	262	0.0534	8	c.377 others(25): Show c.377-1225_377-1224insGAAAGAAA	EMCN	ENSG00000164035.10	transcript	ENST00000296420.9	protein_coding	4/11			chr4	TogoVar
EMCN_chr4_100390341_100523022	100473365	G G	GTTTTTTT others(1): Show GTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01069.hp2 HG01074.hp1 others(8): Show HG00642.hp2 HG01069.hp2 HG01074.hp1 HG01106.hp1 HG01167.hp2 HG01169.hp2 HG01884.hp2 HG01891.hp1 HG01981.hp1 HG02965.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0012 a0001c0001t0013 others(1): Show a0001c0001t0002 a0001c0001t0012 a0001c0001t0013 a0002c0002t0010	a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0034 others(8): Show a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0214 a0001c0001t0012g0026 a0001c0001t0013g0009 a0002c0002t0010g0145	11	262	0.0420	8	c.259 others(25): Show c.259+1672_259+1673insAAAAAAAA	EMCN	ENSG00000164035.10	transcript	ENST00000296420.9	protein_coding	3/11			chr4	TogoVar
EMCN_chr4_100390341_100523022	100475302	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01081.hp2 HG01099.hp2 others(31): Show HG00639.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp2 HG01255.hp2 HG01433.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02615.hp2 HG02647.hp1 HG02886.hp2 HG03017.hp2 HG03130.hp1 HG03453.hp2 HG03486.hp2 HG03491.hp1 HG03579.hp2 HG03654.hp2 HG03927.hp2 HG04115.hp1 HG06807.hp1 HG06807.hp2 NA18955.hp2 NA19030.hp2 NA20752.hp2 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0005c0007	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(9): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0015 a0001c0001t0029 a0002c0002t0001 a0002c0002t0010 a0002c0002t0026 a0003c0003t0036 a0005c0007t0002	a0001c0001t0002g0007 a0001c0001t0002g0021 a0001c0001t0002g0024 others(30): Show a0001c0001t0002g0007 a0001c0001t0002g0021 a0001c0001t0002g0024 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0161 a0001c0001t0002g0224 a0001c0001t0004g0004 a0001c0001t0004g0131 a0001c0001t0004g0250 a0001c0001t0004g0251 a0001c0001t0004g0252 a0001c0001t0006g0143 a0001c0001t0006g0151 a0001c0001t0007g0126 a0001c0001t0012g0026 a0001c0001t0015g0022 a0001c0001t0015g0115 a0001c0001t0029g0159 a0002c0002t0001g0069 a0002c0002t0010g0145 a0002c0002t0026g0049 a0003c0003t0036g0160 a0005c0007t0002g0209	34	262	0.1298	8	c.188 others(23): Show c.188-201_188-194dupGTGTGTGT	EMCN	ENSG00000164035.10	transcript	ENST00000296420.9	protein_coding	2/11			chr4	TogoVar
EMD_chrX_154374295_154386523	154375871	C C	CAAAAAAA others(1): Show CAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02809.hp2 HG02818.hp2 HG02486.hp1 HG02809.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	284	0.0106	8	c.-36 others(19): Show c.-3614_-3613insAAAAAAAA	EMD	ENSG00000102119.12	transcript	ENST00000369842.9	protein_coding		3423		chrX	TogoVar
EMD_chrX_154374295_154386523	154383489	A A	ACACACGA others(1): Show ACACACGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	284	0.0035	8	c.22 others(19): Show c.2292_*2293insCACACGAC	EMD	ENSG00000102119.12	transcript	ENST00000369842.9	protein_coding		1967		chrX	TogoVar
EMID1_chr22_29200896_29264597	29249587	A A	ATTATTTA others(1): Show ATTATTTAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02451.hp2 HG03098.hp2 others(3): Show HG02145.hp1 HG02451.hp2 HG03098.hp2 HG03209.hp2 HG03471.hp2 HG03516.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0003 a0001c0002 a0003c0003	a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 others(1): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0003c0003t0002	a0001c0002t0002g0191 a0001c0002t0002g0317 a0001c0002t0003g0196 others(3): Show a0001c0002t0002g0191 a0001c0002t0002g0317 a0001c0002t0003g0196 a0001c0002t0003g0316 a0001c0002t0004g0026 a0003c0003t0002g0325	6	348	0.0172	8	c.112 others(27): Show c.1120-4581_1120-4574dupATTTATTT	EMID1	ENSG00000186998.16	transcript	ENST00000334018.11	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
EMID1_chr22_29200896_29264597	29249587	A A	ATTTATTA others(1): Show ATTTATTAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01255.hp2 HG01256.hp1 others(14): Show HG01081.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01515.hp1 HG01517.hp1 HG02257.hp1 HG02572.hp1 HG02717.hp1 HG02809.hp2 HG02976.hp2 HG03041.hp2 HG03139.hp1 HG03453.hp2 NA19240.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0001c0002t0002 a0002c0001t0001 others(1): Show a0001c0002t0001 a0001c0002t0002 a0002c0001t0001 a0002c0001t0003	a0001c0002t0001g0019 a0001c0002t0001g0036 a0001c0002t0001g0037 others(14): Show a0001c0002t0001g0019 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0188 a0001c0002t0001g0238 a0001c0002t0001g0297 a0001c0002t0002g0290 a0002c0001t0001g0006 a0002c0001t0001g0007 a0002c0001t0001g0008 a0002c0001t0001g0010 a0002c0001t0001g0272 a0002c0001t0001g0273 a0002c0001t0001g0312 a0002c0001t0003g0336 a0002c0001t0003g0337 a0002c0001t0003g0338	17	348	0.0489	8	c.112 others(27): Show c.1120-4614_1120-4613insTATTATTT	EMID1	ENSG00000186998.16	transcript	ENST00000334018.11	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
EMID1_chr22_29200896_29264597	29250733	A A	ATTTTTTT others(1): Show ATTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01109.hp1 HG01175.hp1 others(14): Show HG01081.hp1 HG01109.hp1 HG01175.hp1 HG01256.hp2 HG02896.hp1 HG02897.hp2 HG03239.hp2 HG03490.hp2 HG03492.hp1 HG03654.hp2 HG04184.hp1 HG04199.hp1 HG04228.hp1 NA18940.hp2 NA18990.hp2 NA19011.hp2 NA19066.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0001 a0003c0003 a0001c0002 a0002c0001 a0003c0003	a0001c0002t0001 a0002c0001t0001 a0003c0003t0003 a0001c0002t0001 a0002c0001t0001 a0003c0003t0003	a0001c0002t0001g0018 a0001c0002t0001g0117 a0002c0001t0001g0005 others(13): Show a0001c0002t0001g0018 a0001c0002t0001g0117 a0002c0001t0001g0005 a0002c0001t0001g0009 a0002c0001t0001g0056 a0002c0001t0001g0068 a0002c0001t0001g0080 a0002c0001t0001g0115 a0002c0001t0001g0170 a0002c0001t0001g0171 a0002c0001t0001g0276 a0002c0001t0001g0279 a0002c0001t0001g0342 a0003c0003t0003g0015 a0003c0003t0003g0016 a0003c0003t0003g0181	17	348	0.0489	8	c.112 others(27): Show c.1120-3442_1120-3435dupTTTTTTTT	EMID1	ENSG00000186998.16	transcript	ENST00000334018.11	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
EMILIN2_chr18_2842006_2921003	2858522	C C	CATATATA others(1): Show CATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02647.hp2 HG03704.hp2 others(4): Show HG02258.hp1 HG02647.hp2 HG03704.hp2 NA18973.hp2 NA19010.hp2 NA19030.hp1 NA19074.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0002c0005 a0002c0007	a0001c0001t0003 a0001c0001t0005 a0001c0001t0020 others(4): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0020 a0001c0002t0001 a0001c0004t0053 a0002c0005t0030 a0002c0007t0004	a0001c0001t0003g0342 a0001c0001t0005g0065 a0001c0001t0020g0274 others(4): Show a0001c0001t0003g0342 a0001c0001t0005g0065 a0001c0001t0020g0274 a0001c0002t0001g0356 a0001c0004t0053g0201 a0002c0005t0030g0036 a0002c0007t0004g0049	7	452	0.0155	8	c.257 others(27): Show c.257+10632_257+10639dupATATATAT	EMILIN2	ENSG00000132205.11	transcript	ENST00000254528.4	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar

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