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

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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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
GGH_chr8_63010079_63043806	63014893	T T	TACACACA others(1): Show TACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG00558.hp1 others(66): Show HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG01361.hp1 HG01928.hp1 HG01975.hp1 HG02015.hp1 HG02027.hp2 HG02056.hp1 HG02074.hp2 HG02083.hp1 HG02148.hp1 HG02523.hp2 HG02559.hp1 HG02717.hp2 HG02735.hp1 HG02970.hp1 HG03209.hp2 HG03453.hp2 HG03490.hp1 HG03492.hp2 HG03704.hp1 HG03927.hp2 HG04228.hp2 NA18747.hp2 NA18941.hp1 NA18945.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18954.hp2 NA18963.hp2 NA18964.hp2 NA18966.hp2 NA18969.hp1 NA18971.hp2 NA18972.hp1 NA18975.hp1 NA18977.hp1 NA18983.hp1 NA18984.hp1 NA18986.hp2 NA18992.hp2 NA18994.hp2 NA18995.hp1 NA19001.hp1 NA19004.hp1 NA19004.hp2 NA19007.hp2 NA19009.hp1 NA19056.hp1 NA19060.hp2 NA19063.hp2 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19074.hp1 NA19078.hp1 NA19080.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19089.hp1 NA19090.hp1 NA19091.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0005 a0001c0001 a0002c0002 a0005c0005	a0001c0001t0001 a0002c0002t0001 a0005c0005t0001 a0001c0001t0001 a0002c0002t0001 a0005c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0013 others(26): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0026 a0001c0001t0001g0035 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0002c0002t0001g0067 a0002c0002t0001g0068 a0005c0005t0001g0086	69	426	0.1620	8	c.43 others(17): Show c.431_*438dupGTGTGTGT	GGH	ENSG00000137563.13	transcript	ENST00000260118.7	protein_coding		185		chr8	TogoVar
GGH_chr8_63010079_63043806	63033983	T T	TTATATAT others(1): Show TTATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03927.hp2 HG04199.hp1 HG02572.hp2 HG03927.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0104 a0001c0001t0001g0113 a0001c0001t0001g0089 a0001c0001t0001g0104 a0001c0001t0001g0113	3	426	0.0070	8	c.224 others(25): Show c.224+1665_224+1672dupTATATATA	GGH	ENSG00000137563.13	transcript	ENST00000260118.7	protein_coding	2/8			chr8	TogoVar
GGNBP2_chr17_36539919_36594848	36575613	C C	CATATATA others(1): Show CATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp2 HG02717.hp1 others(3): Show HG02055.hp2 HG02109.hp2 HG02717.hp1 HG02886.hp2 HG03579.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0124 a0001c0001t0001g0131 others(3): Show a0001c0001t0001g0065 a0001c0001t0001g0124 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0143 a0001c0001t0001g0144	6	357	0.0168	8	c.642 others(25): Show c.642-2341_642-2334dupATATATAT	GGNBP2	ENSG00000278311.5	transcript	ENST00000613102.5	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
GGNBP2_chr17_36539919_36594848	36576595	A A	ATATGTGT others(1): Show ATATGTGTG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01952.hp2 HG01981.hp2 others(2): Show HG00738.hp1 HG01952.hp2 HG01981.hp2 NA18962.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0066 a0001c0001t0001g0080 others(2): Show a0001c0001t0001g0020 a0001c0001t0001g0066 a0001c0001t0001g0080 a0001c0001t0001g0267 a0001c0001t0001g0318	5	357	0.0140	8	c.642 others(25): Show c.642-1387_642-1386insATGTGTGT	GGNBP2	ENSG00000278311.5	transcript	ENST00000613102.5	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
GGNBP2_chr17_36539919_36594848	36576595	A A	ATGTGTGT others(1): Show ATGTGTGTG	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18994.hp1 NA19004.hp2 NA18965.hp1 NA18994.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0057 a0001c0001t0001g0136 a0001c0001t0002g0244 a0001c0001t0001g0057 a0001c0001t0001g0136 a0001c0001t0002g0244	3	357	0.0084	8	c.642 others(25): Show c.642-1360_642-1353dupGTGTGTGT	GGNBP2	ENSG00000278311.5	transcript	ENST00000613102.5	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
GGNBP2_chr17_36539919_36594848	36576629	G G	GTGTATAT others(1): Show GTGTATATA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02083.hp1 HG02145.hp1 others(3): Show HG00323.hp2 HG02083.hp1 HG02145.hp1 HG02735.hp1 HG06807.hp1 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0339 a0001c0002t0004g0341 a0001c0002t0004g0342 others(3): Show a0001c0002t0004g0339 a0001c0002t0004g0341 a0001c0002t0004g0342 a0001c0002t0004g0346 a0001c0002t0004g0347 a0001c0002t0004g0352	6	357	0.0168	8	c.642 others(25): Show c.642-1353_642-1352insGTATATAT	GGNBP2	ENSG00000278311.5	transcript	ENST00000613102.5	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
GGNBP2_chr17_36539919_36594848	36576629	G G	GTGTGTGT others(1): Show GTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02896.hp2 HG03139.hp1 others(2): Show HG02717.hp2 HG02896.hp2 HG03139.hp1 NA18522.hp1 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0334 a0001c0002t0004g0335 a0001c0002t0004g0349 others(2): Show a0001c0002t0004g0334 a0001c0002t0004g0335 a0001c0002t0004g0349 a0001c0002t0004g0353 a0001c0002t0004g0354	5	357	0.0140	8	c.642 others(25): Show c.642-1353_642-1352insGTGTGTAT	GGNBP2	ENSG00000278311.5	transcript	ENST00000613102.5	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
GGN_chr19_38379267_38393034	38380689	T T	TGAGAGAG others(1): Show TGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00438.hp2 HG00597.hp2 others(56): Show HG00099.hp1 HG00438.hp2 HG00597.hp2 HG00621.hp1 HG00673.hp1 HG00735.hp1 HG01081.hp2 HG01346.hp2 HG01361.hp2 HG01952.hp2 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02145.hp2 HG02273.hp1 HG02293.hp1 HG02602.hp1 HG02738.hp1 HG03017.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03710.hp1 HG03831.hp2 HG04199.hp1 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18940.hp1 NA18945.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18963.hp2 NA18966.hp1 NA18971.hp1 NA18979.hp2 NA18981.hp2 NA18986.hp2 NA18991.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp2 NA19002.hp2 NA19009.hp1 NA19010.hp1 NA19057.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19086.hp1 NA19087.hp2 NA21309.hp1	a0002 a0004 a0009 others(3): Show a0002 a0004 a0009 a0020 a0021 a0022	a0002c0003 a0002c0010 a0004c0004 others(4): Show a0002c0003 a0002c0010 a0004c0004 a0009c0009 a0020c0020 a0021c0018 a0022c0026	a0002c0003t0001 a0002c0010t0001 a0004c0004t0001 others(5): Show a0002c0003t0001 a0002c0010t0001 a0004c0004t0001 a0009c0009t0001 a0009c0009t0003 a0020c0020t0001 a0021c0018t0001 a0022c0026t0001	a0002c0003t0001g0004 a0002c0003t0001g0025 a0002c0010t0001g0010 others(7): Show a0002c0003t0001g0004 a0002c0003t0001g0025 a0002c0010t0001g0010 a0004c0004t0001g0005 a0004c0004t0001g0035 a0009c0009t0001g0015 a0009c0009t0003g0024 a0020c0020t0001g0022 a0021c0018t0001g0020 a0022c0026t0001g0030	59	392	0.1505	8	c.37 others(19): Show c.3715_*3722dupTCTCTCTC	GGN	ENSG00000179168.15	transcript	ENST00000334928.11	protein_coding		3577		chr19	TogoVar
GGN_chr19_38379267_38393034	38380707	A A	AGAGAGAG others(1): Show AGAGAGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG01070.hp2 HG02071.hp1 others(11): Show HG00140.hp2 HG01070.hp2 HG02071.hp1 HG02258.hp2 HG02300.hp1 HG02615.hp1 HG02723.hp2 HG03139.hp1 NA18950.hp2 NA18957.hp2 NA18963.hp1 NA19010.hp2 NA19043.hp2 NA20129.hp2	a0001 a0004 a0010 a0001 a0004 a0010	a0001c0001 a0004c0004 a0010c0007 a0001c0001 a0004c0004 a0010c0007	a0001c0001t0001 a0004c0004t0001 a0010c0007t0002 a0001c0001t0001 a0004c0004t0001 a0010c0007t0002	a0001c0001t0001g0001 a0004c0004t0001g0005 a0010c0007t0002g0009 a0001c0001t0001g0001 a0004c0004t0001g0005 a0010c0007t0002g0009	14	392	0.0357	8	c.37 others(19): Show c.3704_*3705insACTCTCTC	GGN	ENSG00000179168.15	transcript	ENST00000334928.11	protein_coding		3559		chr19	TogoVar
GGT1_chr22_24598193_24633996	24605021	G G	GATATATA others(1): Show GATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02723.hp2 HG03130.hp1 others(1): Show HG02572.hp1 HG02723.hp2 HG03130.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0255 a0002c0002t0001g0253 a0002c0002t0001g0254 others(1): Show a0001c0001t0001g0255 a0002c0002t0001g0253 a0002c0002t0001g0254 a0002c0002t0001g0256	4	426	0.0094	8	c.-42 others(27): Show c.-429+1494_-429+1495insATATATAT	GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15			chr22	TogoVar
GGT1_chr22_24598193_24633996	24605345	T T	TATAATAT others(1): Show TATAATATA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01433.hp2 HG02148.hp1 others(2): Show HG01070.hp1 HG01433.hp2 HG02148.hp1 HG03139.hp2 NA19081.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0005 a0001c0001 a0002c0002 a0002c0005	a0001c0001t0002 a0002c0002t0002 a0002c0005t0012 a0001c0001t0002 a0002c0002t0002 a0002c0005t0012	a0001c0001t0002g0278 a0001c0001t0002g0337 a0002c0002t0002g0318 others(2): Show a0001c0001t0002g0278 a0001c0001t0002g0337 a0002c0002t0002g0318 a0002c0002t0002g0363 a0002c0005t0012g0289	5	426	0.0117	8	c.-42 others(27): Show c.-429+1821_-429+1822insATATAATA	GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr22	TogoVar
GGT1_chr22_24598193_24633996	24605351	A A	ATATAATA others(1): Show ATATAATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02015.hp2 HG02630.hp1 others(1): Show HG00639.hp1 HG02015.hp2 HG02630.hp1 HG02886.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0002c0002t0002	a0001c0001t0001g0071 a0001c0001t0002g0145 a0001c0001t0006g0162 others(1): Show a0001c0001t0001g0071 a0001c0001t0002g0145 a0001c0001t0006g0162 a0002c0002t0002g0419	4	426	0.0094	8	c.-42 others(27): Show c.-429+1825_-429+1832dupTATAATAT	GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr22	TogoVar
GGT1_chr22_24598193_24633996	24611773	T T	TTGTGTGT others(1): Show TTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02148.hp1 HG02280.hp1 others(4): Show HG00735.hp2 HG02148.hp1 HG02280.hp1 HG02615.hp1 HG02965.hp1 HG03017.hp1 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0004 a0002c0002t0002 a0002c0002t0004	a0002c0002t0002g0303 a0002c0002t0002g0318 a0002c0002t0002g0369 others(4): Show a0002c0002t0002g0303 a0002c0002t0002g0318 a0002c0002t0002g0369 a0002c0002t0002g0400 a0002c0002t0004g0039 a0002c0002t0004g0040 a0002c0002t0004g0043	7	426	0.0164	8	c.164 others(23): Show c.164+568_164+575dupGTGTGTGT	GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr22	TogoVar
GGT7_chr20_34839720_34877856	34853340	G G	GGTGTGTG others(1): Show GGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03041.hp2 HG03579.hp1 others(1): Show HG02717.hp2 HG03041.hp2 HG03579.hp1 NA18963.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0015 a0002c0003t0001 a0002c0003t0004 a0001c0002t0015 a0002c0003t0001 a0002c0003t0004	a0001c0002t0015g0121 a0002c0003t0001g0150 a0002c0003t0004g0149 others(1): Show a0001c0002t0015g0121 a0002c0003t0001g0150 a0002c0003t0004g0149 a0002c0003t0004g0152	4	354	0.0113	8	c.132 others(25): Show c.1320-810_1320-803dupACACACAC	GGT7	ENSG00000131067.17	transcript	ENST00000336431.10	protein_coding	10/14			chr20	TogoVar
GGT7_chr20_34839720_34877856	34855814	T T	TGTGTGTG others(1): Show TGTGTGTGA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01258.hp1 HG01516.hp2 others(3): Show HG01099.hp2 HG01258.hp1 HG01516.hp2 HG01517.hp2 HG06807.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0015 a0001c0001t0004g0155 a0001c0001t0004g0159 others(1): Show a0001c0001t0004g0015 a0001c0001t0004g0155 a0001c0001t0004g0159 a0001c0001t0004g0186	6	354	0.0170	8	c.110 others(25): Show c.1103-892_1103-891insTCACACAC	GGT7	ENSG00000131067.17	transcript	ENST00000336431.10	protein_coding	8/14			chr20	TogoVar
GGTA1_chr9_121450040_121504844	121458625	C C	CAAATAAA others(1): Show CAAATAAAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01168.hp1 HG01169.hp1 others(16): Show HG00609.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01243.hp2 HG01975.hp1 HG02735.hp2 HG02896.hp2 HG02897.hp2 HG03195.hp1 HG03225.hp1 HG03942.hp1 NA18954.hp1 NA18955.hp1 NA18957.hp2 NA18970.hp1 NA18984.hp1 NA18999.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0195 others(16): Show a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0195 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0215 a0001c0001t0001g0229 a0001c0001t0002g0246 a0001c0001t0002g0248 a0001c0001t0002g0252 a0001c0001t0002g0254 a0001c0001t0002g0256 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0266	19	338	0.0562	8	c.298 others(25): Show c.298+1471_298+1478dupATTTATTT	GGTA1	ENSG00000204136.12	transcript	ENST00000481799.6	protein_coding	5/5			chr9	TogoVar
GGTLC2_chr22_22639614_22652898	22644882	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01255.hp2 HG02027.hp2 others(12): Show HG00558.hp2 HG01255.hp2 HG02027.hp2 HG02056.hp2 HG02129.hp2 HG02683.hp2 HG03491.hp1 HG03654.hp1 HG03704.hp2 HG03710.hp1 HG04184.hp2 HG04228.hp1 NA18522.hp1 NA18994.hp1 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0001c0010 a0001c0027 others(1): Show a0001c0004 a0001c0010 a0001c0027 a0002c0002	a0001c0004t0001 a0001c0004t0003 a0001c0010t0003 others(2): Show a0001c0004t0001 a0001c0004t0003 a0001c0010t0003 a0001c0027t0003 a0002c0002t0002	a0001c0004t0001g0083 a0001c0004t0003g0018 a0001c0004t0003g0056 others(10): Show a0001c0004t0001g0083 a0001c0004t0003g0018 a0001c0004t0003g0056 a0001c0004t0003g0057 a0001c0004t0003g0068 a0001c0004t0003g0077 a0001c0004t0003g0079 a0001c0004t0003g0080 a0001c0004t0003g0100 a0001c0004t0003g0210 a0001c0010t0003g0016 a0001c0027t0003g0191 a0002c0002t0002g0054	15	412	0.0364	8	c.-35 others(23): Show c.-35+193_-35+200dupTTTTTTTT	GGTLC2	ENSG00000100121.14	transcript	ENST00000448514.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
GH1_chr17_63912203_63923839	63912753	G G	GTTTCTTT others(1): Show GTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG01074.hp1 HG01099.hp2 others(14): Show HG00738.hp1 HG01074.hp1 HG01099.hp2 HG01243.hp2 HG02148.hp2 HG02486.hp2 HG03130.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp2 NA18997.hp1 NA19000.hp2 NA19057.hp2 NA19081.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0004c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0002g0001 a0001c0001t0002g0009 a0001c0001t0003g0011 a0004c0005t0001g0022	17	420	0.0405	8	c.45 others(19): Show c.4555_*4556insGAAAGAAA	GH1	ENSG00000259384.7	transcript	ENST00000323322.10	protein_coding		4449		chr17	TogoVar
GH2_chr17_63875215_63886944	63875551	T T	TCTTTCTT others(1): Show TCTTTCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02896.hp1 NA20129.hp2 HG02257.hp1 HG02896.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	3	426	0.0070	8	c.47 others(19): Show c.4769_*4770insGAAGAAAG	GH2	ENSG00000136487.18	transcript	ENST00000423893.7	protein_coding		4663		chr17	TogoVar
GH2_chr17_63875215_63886944	63875620	C C	CCTTCCTT others(1): Show CCTTCCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02886.hp2 NA20129.hp2 HG02559.hp2 HG02886.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	3	426	0.0070	8	c.47 others(19): Show c.4700_*4701insAAAGGAAG	GH2	ENSG00000136487.18	transcript	ENST00000423893.7	protein_coding		4594		chr17	TogoVar
GHRHR_chr7_30958953_30984528	30968605	T T	TCTCCCTC others(1): Show TCTCCCTCC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01243.hp1 HG01891.hp2 others(13): Show HG01106.hp1 HG01243.hp1 HG01891.hp2 HG02109.hp1 HG02451.hp2 HG02572.hp1 HG02647.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG03453.hp1 HG03540.hp2 HG04199.hp2 NA18522.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0008t0003	a0001c0001t0001g0144 a0001c0001t0002g0168 a0001c0002t0001g0158 others(8): Show a0001c0001t0001g0144 a0001c0001t0002g0168 a0001c0002t0001g0158 a0001c0002t0003g0013 a0001c0002t0003g0037 a0001c0002t0003g0043 a0001c0002t0003g0062 a0001c0002t0003g0145 a0001c0002t0003g0147 a0001c0002t0005g0173 a0001c0008t0003g0127	16	422	0.0379	8	c.58- others(21): Show c.58-198_58-191dupCCCTCCCT	GHRHR	ENSG00000106128.19	transcript	ENST00000326139.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
GHRHR_chr7_30958953_30984528	30980185	T T	TAAAAAAA others(1): Show TAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02145.hp1 HG02280.hp1 others(5): Show HG02109.hp1 HG02145.hp1 HG02280.hp1 HG02572.hp2 HG02615.hp1 HG02922.hp1 HG03098.hp2 HG04184.hp1	a0001 a0004 a0009 a0001 a0004 a0009	a0001c0001 a0004c0005 a0009c0017 a0001c0001 a0004c0005 a0009c0017	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0004c0005t0001 a0004c0005t0002 a0009c0017t0001	a0001c0001t0002g0168 a0001c0001t0003g0036 a0001c0001t0005g0186 others(4): Show a0001c0001t0002g0168 a0001c0001t0003g0036 a0001c0001t0005g0186 a0004c0005t0001g0148 a0004c0005t0001g0160 a0004c0005t0002g0170 a0009c0017t0001g0196	8	422	0.0190	8	c.94 others(17): Show c.941_*942insAAAAAAAA	GHRHR	ENSG00000106128.19	transcript	ENST00000326139.7	protein_coding		658		chr7	TogoVar
GHR_chr5_42418439_42726878	42424171	A A	AGTGTGTG others(1): Show AGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01516.hp1 HG01517.hp1 others(7): Show HG00735.hp2 HG01516.hp1 HG01517.hp1 HG02027.hp1 HG02109.hp2 HG03704.hp2 HG03710.hp1 HG04115.hp2 HG04228.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0005c0007	a0001c0001t0002 a0002c0002t0001 a0002c0002t0006 others(2): Show a0001c0001t0002 a0002c0002t0001 a0002c0002t0006 a0003c0003t0003 a0005c0007t0018	a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0193 others(7): Show a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0193 a0002c0002t0001g0186 a0002c0002t0001g0189 a0002c0002t0001g0192 a0002c0002t0006g0184 a0003c0003t0003g0190 a0003c0003t0003g0191 a0005c0007t0018g0185	10	210	0.0476	8	c.-12 others(23): Show c.-12+257_-12+264dupGTGTGTGT	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GHR_chr5_42418439_42726878	42430607	C C	CGTGTGTG others(1): Show CGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00735.hp1 HG01258.hp1 others(8): Show HG00280.hp1 HG00735.hp1 HG01258.hp1 HG01952.hp2 HG02071.hp1 HG04204.hp2 NA18522.hp1 NA18967.hp2 NA19006.hp1 NA20129.hp2 NA20300.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0008 a0002c0002 others(2): Show a0001c0001 a0001c0008 a0002c0002 a0003c0003 a0004c0004	a0001c0001t0002 a0001c0001t0015 a0001c0008t0003 others(3): Show a0001c0001t0002 a0001c0001t0015 a0001c0008t0003 a0002c0002t0001 a0003c0003t0003 a0004c0004t0018	a0001c0001t0002g0021 a0001c0001t0015g0093 a0001c0001t0015g0094 others(8): Show a0001c0001t0002g0021 a0001c0001t0015g0093 a0001c0001t0015g0094 a0001c0008t0003g0150 a0002c0002t0001g0122 a0002c0002t0001g0151 a0003c0003t0003g0091 a0003c0003t0003g0120 a0003c0003t0003g0121 a0003c0003t0003g0179 a0004c0004t0018g0152	11	210	0.0524	8	c.-12 others(25): Show c.-12+6675_-12+6682dupGTGTGTGT	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GHR_chr5_42418439_42726878	42437529	A A	ATATTTAT others(1): Show ATATTTATT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01192.hp2 others(10): Show HG01167.hp2 HG01169.hp2 HG01192.hp2 HG01361.hp2 HG01884.hp1 HG02559.hp2 HG02572.hp1 HG02647.hp2 HG02818.hp2 HG03130.hp1 NA18522.hp1 NA19030.hp2 NA20300.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0008 a0002c0002 others(2): Show a0001c0001 a0001c0008 a0002c0002 a0003c0005 a0003c0006	a0001c0001t0004 a0001c0001t0013 a0001c0001t0015 others(5): Show a0001c0001t0004 a0001c0001t0013 a0001c0001t0015 a0001c0008t0007 a0002c0002t0001 a0003c0005t0007 a0003c0005t0021 a0003c0006t0010	a0001c0001t0004g0061 a0001c0001t0004g0062 a0001c0001t0013g0039 others(10): Show a0001c0001t0004g0061 a0001c0001t0004g0062 a0001c0001t0013g0039 a0001c0001t0013g0040 a0001c0001t0013g0065 a0001c0001t0015g0093 a0001c0001t0015g0094 a0001c0008t0007g0083 a0001c0008t0007g0084 a0002c0002t0001g0158 a0003c0005t0007g0033 a0003c0005t0021g0032 a0003c0006t0010g0070	13	210	0.0619	8	c.-12 others(27): Show c.-12+13604_-12+13611dupATTTATTT	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GHR_chr5_42418439_42726878	42439684	A A	AGAAGATA others(1): Show AGAAGATAC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00609.hp1 others(20): Show HG00423.hp2 HG00438.hp1 HG00609.hp1 HG00621.hp1 HG00673.hp1 HG01081.hp2 HG01257.hp1 HG01358.hp1 HG01515.hp1 HG01517.hp2 HG01975.hp2 HG02015.hp2 HG02083.hp2 HG03017.hp1 NA18939.hp2 NA18940.hp2 NA18943.hp1 NA18967.hp1 NA18995.hp1 NA19000.hp2 NA19006.hp2 NA19007.hp1 NA20129.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0007	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0007c0011	a0001c0001t0002 a0002c0002t0001 a0003c0003t0003 others(7): Show a0001c0001t0002 a0002c0002t0001 a0003c0003t0003 a0004c0004t0011 a0004c0004t0012 a0004c0004t0016 a0004c0004t0017 a0004c0004t0032 a0004c0004t0033 a0007c0011t0001	a0001c0001t0002g0016 a0001c0001t0002g0017 a0002c0002t0001g0012 others(20): Show a0001c0001t0002g0016 a0001c0001t0002g0017 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0026 a0003c0003t0003g0003 a0003c0003t0003g0010 a0003c0003t0003g0011 a0003c0003t0003g0014 a0003c0003t0003g0022 a0003c0003t0003g0029 a0004c0004t0011g0001 a0004c0004t0011g0002 a0004c0004t0012g0007 a0004c0004t0012g0009 a0004c0004t0016g0023 a0004c0004t0016g0027 a0004c0004t0016g0028 a0004c0004t0017g0015 a0004c0004t0032g0004 a0004c0004t0033g0006 a0007c0011t0001g0005 a0007c0011t0001g0008	23	210	0.1095	8	c.-12 others(27): Show c.-12+15730_-12+15737dupGAAGATAC	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GHR_chr5_42418439_42726878	42474277	A A	AAGAGAAA others(1): Show AAGAGAAAG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02055.hp2 HG02572.hp1 others(1): Show HG01361.hp2 HG02055.hp2 HG02572.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0039 a0001c0001t0013g0040 a0001c0001t0013g0065 others(1): Show a0001c0001t0013g0039 a0001c0001t0013g0040 a0001c0001t0013g0065 a0001c0001t0013g0066	4	210	0.0191	8	c.-12 others(27): Show c.-12+50325_-12+50326insGAAAGAGA	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GHR_chr5_42418439_42726878	42474295	G G	GAGAAAGA others(1): Show GAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02015.hp1 HG02040.hp2 others(4): Show HG01192.hp1 HG02015.hp1 HG02040.hp2 HG02071.hp1 HG02451.hp1 HG02615.hp1 HG03516.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0008 a0002c0002 a0003c0005 others(1): Show a0001c0008 a0002c0002 a0003c0005 a0004c0004	a0001c0008t0003 a0002c0002t0001 a0003c0005t0002 others(1): Show a0001c0008t0003 a0002c0002t0001 a0003c0005t0002 a0004c0004t0029	a0001c0008t0003g0150 a0001c0008t0003g0162 a0002c0002t0001g0166 others(4): Show a0001c0008t0003g0150 a0001c0008t0003g0162 a0002c0002t0001g0166 a0002c0002t0001g0168 a0003c0005t0002g0041 a0003c0005t0002g0142 a0004c0004t0029g0118	7	210	0.0333	8	c.-12 others(27): Show c.-12+50378_-12+50385dupGAAAGAAA	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GHR_chr5_42418439_42726878	42532348	T T	TGATAGAT others(1): Show TGATAGATA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02559.hp1 HG02630.hp2 others(9): Show HG02486.hp2 HG02559.hp1 HG02630.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03041.hp1 HG03098.hp2 HG03486.hp2 NA18522.hp2 NA19030.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0008	a0001c0001 a0002c0002 a0003c0005 others(3): Show a0001c0001 a0002c0002 a0003c0005 a0003c0006 a0006c0010 a0008c0009	a0001c0001t0002 a0001c0001t0004 a0002c0002t0001 others(4): Show a0001c0001t0002 a0001c0001t0004 a0002c0002t0001 a0003c0005t0002 a0003c0006t0010 a0006c0010t0019 a0008c0009t0001	a0001c0001t0002g0031 a0001c0001t0004g0157 a0002c0002t0001g0109 others(9): Show a0001c0001t0002g0031 a0001c0001t0004g0157 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0134 a0002c0002t0001g0135 a0003c0005t0002g0111 a0003c0006t0010g0197 a0003c0006t0010g0198 a0006c0010t0019g0102 a0006c0010t0019g0132 a0008c0009t0001g0112	12	210	0.0571	8	c.-11 others(27): Show c.-11-33496_-11-33489dupAGATAGAT	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GHR_chr5_42418439_42726878	42540183	T T	TTCTCTCT others(1): Show TTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG03130.hp2 HG03516.hp2 others(1): Show HG01192.hp1 HG03130.hp2 HG03516.hp2 NA20129.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0005 a0001c0001 a0002c0002 a0003c0005	a0001c0001t0002 a0002c0002t0001 a0003c0005t0002 a0001c0001t0002 a0002c0002t0001 a0003c0005t0002	a0001c0001t0002g0021 a0002c0002t0001g0166 a0002c0002t0001g0168 others(1): Show a0001c0001t0002g0021 a0002c0002t0001g0166 a0002c0002t0001g0168 a0003c0005t0002g0042	4	210	0.0191	8	c.-11 others(27): Show c.-11-25651_-11-25644dupCTCTCTCT	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GHR_chr5_42418439_42726878	42583878	G G	GATATATA others(1): Show GATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02922.hp1 HG03017.hp1 others(1): Show HG02896.hp1 HG02922.hp1 HG03017.hp1 HG03669.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0002 a0001c0001t0003 a0004c0004t0017 a0001c0001t0002 a0001c0001t0003 a0004c0004t0017	a0001c0001t0002g0127 a0001c0001t0003g0068 a0001c0001t0003g0069 others(1): Show a0001c0001t0002g0127 a0001c0001t0003g0068 a0001c0001t0003g0069 a0004c0004t0017g0015	4	210	0.0191	8	c.70+ others(25): Show c.70+17946_70+17953dupTATATATA	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GHR_chr5_42418439_42726878	42637932	A A	ATGGTTGG others(1): Show ATGGTTGGT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG03041.hp2 HG01167.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0045 a0001c0001t0020g0058 a0001c0001t0020g0045 a0001c0001t0020g0058	2	210	0.0095	8	c.136 others(25): Show c.136+8835_136+8836insGTTGGTTG	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GHR_chr5_42418439_42726878	42650578	C C	CATATATA others(1): Show CATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00621.hp1 others(17): Show HG00423.hp2 HG00438.hp1 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG01074.hp1 HG01109.hp2 HG02015.hp2 HG02040.hp2 HG02071.hp2 HG04115.hp2 NA18940.hp2 NA18943.hp1 NA18967.hp1 NA18995.hp2 NA19000.hp2 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA20905.hp1	a0002 a0004 a0005 others(1): Show a0002 a0004 a0005 a0007	a0002c0002 a0004c0004 a0005c0007 others(1): Show a0002c0002 a0004c0004 a0005c0007 a0007c0011	a0002c0002t0001 a0004c0004t0011 a0004c0004t0012 others(6): Show a0002c0002t0001 a0004c0004t0011 a0004c0004t0012 a0004c0004t0016 a0004c0004t0029 a0004c0004t0032 a0004c0004t0033 a0005c0007t0018 a0007c0011t0001	a0002c0002t0001g0012 a0002c0002t0001g0026 a0002c0002t0001g0113 others(17): Show a0002c0002t0001g0012 a0002c0002t0001g0026 a0002c0002t0001g0113 a0002c0002t0001g0123 a0002c0002t0001g0124 a0004c0004t0011g0001 a0004c0004t0011g0002 a0004c0004t0011g0139 a0004c0004t0011g0163 a0004c0004t0012g0009 a0004c0004t0012g0130 a0004c0004t0012g0177 a0004c0004t0016g0023 a0004c0004t0016g0027 a0004c0004t0029g0118 a0004c0004t0032g0004 a0004c0004t0033g0006 a0005c0007t0018g0185 a0007c0011t0001g0005 a0007c0011t0001g0008	20	210	0.0952	8	c.136 others(27): Show c.136+21492_136+21499dupATATATAT	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GHSR_chr3_172438291_172453456	172453368	A A	ATGTGTGT others(1): Show ATGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp2 HG00741.hp1 others(23): Show HG00733.hp1 HG00733.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01099.hp1 HG01123.hp2 HG01192.hp1 HG01358.hp1 HG01358.hp2 HG01516.hp2 HG01891.hp2 HG02523.hp1 HG02559.hp2 HG02735.hp2 HG02818.hp2 HG02895.hp2 HG02896.hp2 HG03490.hp1 NA18986.hp1 NA18998.hp1 NA18998.hp2 NA19030.hp1 NA19057.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0014	a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0003t0003 a0001c0014t0003	a0001c0001t0002g0001 a0001c0001t0002g0013 a0001c0001t0004g0004 others(6): Show a0001c0001t0002g0001 a0001c0001t0002g0013 a0001c0001t0004g0004 a0001c0001t0004g0010 a0001c0001t0004g0031 a0001c0002t0001g0002 a0001c0002t0001g0014 a0001c0003t0003g0003 a0001c0014t0003g0045	26	446	0.0583	8	c.-49 others(19): Show c.-4956_-4955insCACACACA	GHSR	ENSG00000121853.4	transcript	ENST00000241256.3	protein_coding		4913		chr3	TogoVar
GHSR_chr3_172438291_172453456	172453397	T T	TGTGTGTG others(1): Show TGTGTGTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG01346.hp1 HG01496.hp2 others(5): Show HG01257.hp1 HG01346.hp1 HG01496.hp2 HG01928.hp2 HG02004.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	8	446	0.0179	8	c.-49 others(19): Show c.-4985_-4984insTCACACAC	GHSR	ENSG00000121853.4	transcript	ENST00000241256.3	protein_coding		4942		chr3	TogoVar
GID4_chr17_18034408_18073405	18066451	A A	AGTGTGTG others(1): Show AGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00558.hp1 HG00621.hp2 HG03654.hp2 HG00558.hp1 HG00621.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0007 a0001c0001t0018g0134 a0001c0001t0018g0007 a0001c0001t0018g0134	3	308	0.0097	8	c.12 others(19): Show c.1235_*1242dupGTGTGTGT	GID4	ENSG00000141034.10	transcript	ENST00000268719.9	protein_coding	6/6	1243	INFO_REALIGN_3_PRIME	chr17	TogoVar
GIGYF1_chr7_100674507_100699250	100691506	A A	ATTTTTTT others(1): Show ATTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp1 HG01106.hp1 others(13): Show HG00408.hp1 HG00597.hp1 HG01106.hp1 HG01175.hp2 HG02071.hp2 HG02080.hp2 HG02129.hp2 HG02922.hp1 HG02922.hp2 HG03516.hp2 NA18612.hp2 NA18974.hp2 NA18987.hp2 NA18994.hp1 NA19001.hp1 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0013 a0001c0001 a0001c0003 a0001c0013	a0001c0001t0001 a0001c0001t0004 a0001c0003t0080 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0003t0080 a0001c0013t0020	a0001c0001t0001g0019 a0001c0001t0001g0047 a0001c0001t0001g0048 others(8): Show a0001c0001t0001g0019 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0004g0146 a0001c0003t0080g0204 a0001c0013t0020g0161	16	398	0.0402	8	c.-10 others(29): Show c.-1098-1959_-1098-1952dupAAAAAAAA	GIGYF1	ENSG00000146830.11	transcript	ENST00000678049.1	protein_coding	1/26			chr7	TogoVar
GIGYF2_chr2_232692331_232865605	232695549	A A	AAAATAAA others(1): Show AAAATAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01952.hp1 HG01993.hp1 others(4): Show HG01167.hp2 HG01952.hp1 HG01993.hp1 NA18957.hp1 NA19003.hp1 NA19007.hp2 NA19091.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0193 a0001c0002t0005g0295 a0001c0002t0005g0296 others(4): Show a0001c0002t0005g0193 a0001c0002t0005g0295 a0001c0002t0005g0296 a0001c0002t0005g0297 a0001c0002t0005g0298 a0001c0002t0005g0299 a0001c0002t0005g0302	7	376	0.0186	8	c.-19 others(19): Show c.-1953_-1952insAAATAAAT	GIGYF2	ENSG00000204120.16	transcript	ENST00000373563.9	protein_coding		1781		chr2	TogoVar
GIGYF2_chr2_232692331_232865605	232711705	G G	GTATATAT others(1): Show GTATATATA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00621.hp2 NA18995.hp2 HG00544.hp2 HG00621.hp2 NA18995.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0008 a0001c0005t0001 a0001c0005t0008	a0001c0005t0001g0204 a0001c0005t0001g0231 a0001c0005t0008g0232 a0001c0005t0001g0204 a0001c0005t0001g0231 a0001c0005t0008g0232	3	376	0.0080	8	c.-44 others(25): Show c.-44+8231_-44+8238dupTATATATA	GIGYF2	ENSG00000204120.16	transcript	ENST00000373563.9	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
GIGYF2_chr2_232692331_232865605	232720583	A A	ATATTTTT others(1): Show ATATTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG03490.hp2 HG03492.hp1 HG01099.hp1 HG03490.hp2 HG03492.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0004 a0002c0001t0002 a0002c0001t0004	a0002c0001t0002g0089 a0002c0001t0004g0035 a0002c0001t0004g0093 a0002c0001t0002g0089 a0002c0001t0004g0035 a0002c0001t0004g0093	3	376	0.0080	8	c.-43 others(27): Show c.-43-14571_-43-14570insATTTTTTT	GIGYF2	ENSG00000204120.16	transcript	ENST00000373563.9	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
GIGYF2_chr2_232692331_232865605	232753097	G G	GTATTTAT others(1): Show GTATTTATT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00738.hp1 HG01175.hp1 others(6): Show HG00642.hp2 HG00738.hp1 HG01175.hp1 HG01261.hp1 HG01993.hp2 HG02145.hp2 HG02809.hp1 HG02809.hp2 HG03516.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0001c0002t0003 a0001c0002t0023 others(3): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0023 a0001c0002t0025 a0002c0001t0004 a0002c0001t0034	a0001c0002t0001g0326 a0001c0002t0001g0350 a0001c0002t0003g0309 others(6): Show a0001c0002t0001g0326 a0001c0002t0001g0350 a0001c0002t0003g0309 a0001c0002t0023g0351 a0001c0002t0025g0242 a0002c0001t0004g0038 a0002c0001t0004g0040 a0002c0001t0004g0041 a0002c0001t0034g0042	9	376	0.0239	8	c.268 others(25): Show c.268-3089_268-3082dupTATTTATT	GIGYF2	ENSG00000204120.16	transcript	ENST00000373563.9	protein_coding	5/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
GIGYF2_chr2_232692331_232865605	232781287	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01261.hp1 HG02015.hp1 others(24): Show HG00408.hp1 HG01261.hp1 HG02015.hp1 HG02071.hp2 HG02074.hp1 HG02109.hp2 HG02293.hp1 HG02300.hp1 HG02602.hp2 HG02896.hp2 HG02897.hp1 HG03139.hp1 HG03453.hp1 HG03579.hp2 HG03927.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18942.hp2 NA18945.hp1 NA18951.hp1 NA18961.hp2 NA18990.hp1 NA18991.hp2 NA19068.hp1 NA19070.hp1 NA20905.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0012	a0001c0002 a0001c0003 a0002c0001 others(3): Show a0001c0002 a0001c0003 a0002c0001 a0002c0006 a0006c0012 a0012c0015	a0001c0002t0001 a0001c0002t0014 a0001c0003t0003 others(7): Show a0001c0002t0001 a0001c0002t0014 a0001c0003t0003 a0001c0003t0006 a0002c0001t0002 a0002c0001t0004 a0002c0001t0032 a0002c0006t0007 a0006c0012t0007 a0012c0015t0003	a0001c0002t0001g0190 a0001c0002t0014g0178 a0001c0003t0003g0148 others(24): Show a0001c0002t0001g0190 a0001c0002t0014g0178 a0001c0003t0003g0148 a0001c0003t0003g0161 a0001c0003t0003g0174 a0001c0003t0006g0160 a0001c0003t0006g0167 a0001c0003t0006g0168 a0002c0001t0002g0030 a0002c0001t0002g0046 a0002c0001t0002g0048 a0002c0001t0002g0050 a0002c0001t0002g0060 a0002c0001t0002g0063 a0002c0001t0002g0072 a0002c0001t0002g0106 a0002c0001t0002g0116 a0002c0001t0002g0121 a0002c0001t0002g0128 a0002c0001t0004g0038 a0002c0001t0004g0096 a0002c0001t0004g0099 a0002c0001t0032g0079 a0002c0006t0007g0370 a0006c0012t0007g0373 a0006c0012t0007g0374 a0012c0015t0003g0145	27	376	0.0718	8	c.533 others(25): Show c.533-5835_533-5828dupCACACACA	GIGYF2	ENSG00000204120.16	transcript	ENST00000373563.9	protein_coding	8/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
GIGYF2_chr2_232692331_232865605	232797489	T T	TTGTGTGT others(1): Show TTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG01109.hp2 others(17): Show HG00140.hp2 HG00408.hp2 HG01109.hp2 HG01175.hp2 HG01257.hp1 HG01258.hp1 HG01361.hp1 HG01496.hp1 HG02818.hp2 HG02896.hp2 HG02897.hp1 HG02970.hp2 HG03098.hp1 HG03540.hp2 HG03831.hp1 HG04115.hp1 NA18962.hp2 NA18967.hp1 NA18971.hp1 NA19068.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0002 a0001c0005 a0001c0010 others(6): Show a0001c0002 a0001c0005 a0001c0010 a0002c0001 a0002c0006 a0003c0004 a0004c0011 a0005c0009 a0006c0012	a0001c0002t0001 a0001c0002t0017 a0001c0002t0021 others(9): Show a0001c0002t0001 a0001c0002t0017 a0001c0002t0021 a0001c0005t0001 a0001c0005t0022 a0001c0010t0001 a0002c0001t0004 a0002c0006t0007 a0003c0004t0001 a0004c0011t0001 a0005c0009t0011 a0006c0012t0007	a0001c0002t0001g0240 a0001c0002t0001g0294 a0001c0002t0001g0323 others(17): Show a0001c0002t0001g0240 a0001c0002t0001g0294 a0001c0002t0001g0323 a0001c0002t0001g0346 a0001c0002t0017g0175 a0001c0002t0017g0177 a0001c0002t0021g0191 a0001c0005t0001g0194 a0001c0005t0001g0195 a0001c0005t0001g0226 a0001c0005t0022g0229 a0001c0010t0001g0214 a0002c0001t0004g0036 a0002c0006t0007g0372 a0003c0004t0001g0280 a0004c0011t0001g0207 a0004c0011t0001g0224 a0005c0009t0011g0355 a0006c0012t0007g0373 a0006c0012t0007g0374	20	376	0.0532	8	c.163 others(27): Show c.1639+1298_1639+1305dupGTGTGTGT	GIGYF2	ENSG00000204120.16	transcript	ENST00000373563.9	protein_coding	14/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
GIMAP1_chr7_150711613_150729284	150727792	C C	CACACACA others(1): Show CACACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG02258.hp1 HG02486.hp1 others(3): Show HG01243.hp2 HG02258.hp1 HG02486.hp1 HG02717.hp1 HG02922.hp1 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0011 a0002c0004t0006 a0001c0001t0011 a0002c0004t0006	a0001c0001t0011g0006 a0002c0004t0006g0031 a0001c0001t0011g0006 a0002c0004t0006g0031	6	434	0.0138	8	c.68 others(19): Show c.6867_*6868insACACACAT	GIMAP1	ENSG00000213203.3	transcript	ENST00000307194.6	protein_coding		3509		chr7	TogoVar
GIMAP2_chr7_150680706_150698641	150687262	C C	CTTTGTTT others(1): Show CTTTGTTTG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01069.hp1 HG01071.hp2 others(34): Show HG00735.hp1 HG01069.hp1 HG01071.hp2 HG01109.hp2 HG01243.hp1 HG01884.hp2 HG01978.hp2 HG02040.hp2 HG02257.hp1 HG02257.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02572.hp2 HG02630.hp2 HG02717.hp1 HG02886.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03041.hp2 HG03209.hp1 HG03471.hp1 HG03516.hp1 HG03540.hp2 NA18522.hp1 NA18612.hp1 NA18906.hp2 NA18939.hp2 NA18942.hp1 NA18951.hp1 NA19002.hp1 NA19043.hp1 NA19074.hp2 NA19084.hp1 NA19087.hp1 NA19240.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0010 a0012	a0001c0002 a0002c0004 a0003c0006 others(2): Show a0001c0002 a0002c0004 a0003c0006 a0010c0015 a0012c0011	a0001c0002t0001 a0001c0002t0008 a0002c0004t0003 others(3): Show a0001c0002t0001 a0001c0002t0008 a0002c0004t0003 a0003c0006t0001 a0010c0015t0002 a0012c0011t0001	a0001c0002t0001g0011 a0001c0002t0001g0035 a0001c0002t0001g0062 others(18): Show a0001c0002t0001g0011 a0001c0002t0001g0035 a0001c0002t0001g0062 a0001c0002t0001g0089 a0001c0002t0001g0095 a0001c0002t0001g0134 a0001c0002t0001g0140 a0001c0002t0001g0173 a0001c0002t0001g0175 a0001c0002t0008g0011 a0002c0004t0003g0034 a0002c0004t0003g0050 a0002c0004t0003g0051 a0002c0004t0003g0059 a0002c0004t0003g0110 a0002c0004t0003g0114 a0002c0004t0003g0124 a0003c0006t0001g0029 a0003c0006t0001g0172 a0010c0015t0002g0120 a0012c0011t0001g0063	37	456	0.0811	8	c.28+ others(21): Show c.28+195_28+202dupGTTTGTTT	GIMAP2	ENSG00000106560.11	transcript	ENST00000223293.10	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
GIMAP7_chr7_150509872_150526073	150521013	A A	AATATATA others(1): Show AATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00558.hp1 HG00597.hp2 HG00609.hp1 others(113): Show HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01074.hp1 HG01255.hp1 HG01943.hp1 HG01975.hp1 HG01993.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp1 HG02109.hp1 HG02165.hp2 HG02257.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02723.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02922.hp2 HG02970.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03486.hp2 HG03490.hp1 HG03540.hp1 HG03669.hp1 HG03669.hp2 HG03710.hp2 HG03927.hp2 HG03942.hp2 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18963.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp2 NA18981.hp2 NA18984.hp1 NA18986.hp1 NA18987.hp1 NA18991.hp1 NA18991.hp2 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19012.hp2 NA19030.hp2 NA19055.hp2 NA19056.hp1 NA19063.hp2 NA19066.hp2 NA19074.hp1 NA19074.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19090.hp1 NA19091.hp2 NA20300.hp2 NA21309.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0001c0003 a0010c0007 a0001c0001 a0001c0003 a0010c0007	a0001c0001t0002 a0001c0003t0002 a0010c0007t0002 a0001c0001t0002 a0001c0003t0002 a0010c0007t0002	a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0013 others(7): Show a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0013 a0001c0001t0002g0018 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0040 a0001c0001t0002g0050 a0001c0003t0002g0008 a0010c0007t0002g0013	116	466	0.2489	8	c.14 others(17): Show c.146_*153dupTATATATA	GIMAP7	ENSG00000179144.5	transcript	ENST00000313543.5	protein_coding	2/2	154	INFO_REALIGN_3_PRIME	chr7	TogoVar
GIMAP7_chr7_150509872_150526073	150521029	T T	TATATATA others(1): Show TATATATAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01952.hp2 HG02074.hp2 HG02109.hp2 others(10): Show HG01952.hp2 HG02074.hp2 HG02109.hp2 HG02129.hp2 HG02145.hp2 HG02155.hp1 HG02615.hp2 HG02717.hp2 HG02818.hp2 HG03471.hp1 HG03579.hp2 NA18522.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0003 a0001c0001t0006g0015 a0001c0001t0006g0017 others(2): Show a0001c0001t0006g0003 a0001c0001t0006g0015 a0001c0001t0006g0017 a0001c0001t0006g0038 a0001c0001t0006g0053	13	466	0.0279	8	c.15 others(17): Show c.153_*154insTATATACA	GIMAP7	ENSG00000179144.5	transcript	ENST00000313543.5	protein_coding	2/2	154	INFO_REALIGN_3_PRIME	chr7	TogoVar
GIMAP8_chr7_150445630_150484393	150446059	A A	ATTTTTTT others(1): Show ATTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp1 HG03130.hp1 NA19060.hp2 others(3): Show HG02135.hp1 HG03130.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 a0001c0002t0010	a0001c0001t0001g0183 a0001c0001t0001g0197 a0001c0001t0006g0161 others(3): Show a0001c0001t0001g0183 a0001c0001t0001g0197 a0001c0001t0006g0161 a0001c0002t0001g0184 a0001c0002t0001g0188 a0001c0002t0010g0116	6	372	0.0161	8	c.-51 others(19): Show c.-5145_-5144insTTTTTTTT	GIMAP8	ENSG00000171115.4	transcript	ENST00000307271.4	protein_coding		4570		chr7	TogoVar
GIMAP8_chr7_150445630_150484393	150452314	T T	TGCGTGTG others(1): Show TGCGTGTGC	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG03195.hp1 HG03579.hp2 others(2): Show HG01952.hp2 HG03195.hp1 HG03579.hp2 NA18522.hp1 NA19043.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0006 a0006c0015 a0001c0001 a0001c0006 a0006c0015	a0001c0001t0002 a0001c0006t0002 a0006c0015t0006 a0001c0001t0002 a0001c0006t0002 a0006c0015t0006	a0001c0001t0002g0044 a0001c0001t0002g0216 a0001c0006t0002g0215 others(1): Show a0001c0001t0002g0044 a0001c0001t0002g0216 a0001c0006t0002g0215 a0006c0015t0006g0165	5	372	0.0134	8	c.-29 others(25): Show c.-29+1140_-29+1141insCGTGTGCG	GIMAP8	ENSG00000171115.4	transcript	ENST00000307271.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr7	TogoVar
GIMAP8_chr7_150445630_150484393	150452675	G G	GATATATA others(1): Show GATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01884.hp1 HG01952.hp2 others(9): Show HG00621.hp1 HG01884.hp1 HG01952.hp2 HG02109.hp1 HG02451.hp1 HG02896.hp1 HG02897.hp1 HG02970.hp2 HG03098.hp1 HG03704.hp1 HG04204.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0010 a0001c0001 a0001c0003 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0003t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0003 a0001c0010t0006	a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 others(6): Show a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0002g0143 a0001c0001t0002g0216 a0001c0003t0003g0022 a0001c0003t0003g0219 a0001c0003t0003g0220 a0001c0010t0006g0035	12	372	0.0323	8	c.-29 others(25): Show c.-29+1528_-29+1535dupTATATATA	GIMAP8	ENSG00000171115.4	transcript	ENST00000307271.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr7	TogoVar

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