Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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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
LDLRAD4_chr18_13213760_13657751	13578827	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02080.hp2 HG02683.hp2 others(2): Show HG00558.hp1 HG02080.hp2 HG02683.hp2 NA18948.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0066	a0001c0001t0001g0095 a0001c0001t0001g0160 a0001c0001t0002g0117 others(2): Show a0001c0001t0001g0095 a0001c0001t0001g0160 a0001c0001t0002g0117 a0001c0001t0003g0154 a0001c0001t0066g0115	5	178	0.0281	20	c.182 others(39): Show c.182-42281_182-42262dupTTTTTTTTTTTTTTTTTTTT	LDLRAD4	ENSG00000168675.19	transcript	ENST00000359446.11	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
LDLRAD4_chr18_13213760_13657751	13586406	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02886.hp2 NA18949.hp2 HG01981.hp1 HG02886.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0034 a0001c0001t0001 a0001c0001t0034	a0001c0001t0001g0026 a0001c0001t0001g0146 a0001c0001t0034g0102 a0001c0001t0001g0026 a0001c0001t0001g0146 a0001c0001t0034g0102	3	178	0.0169	20	c.182 others(39): Show c.182-34696_182-34695insAAAAAAAAAAAAAAAAAAAA	LDLRAD4	ENSG00000168675.19	transcript	ENST00000359446.11	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
LEF1_chr4_108042548_108173932	108086829	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00735.hp1 HG01243.hp1 others(17): Show HG00621.hp1 HG00735.hp1 HG01243.hp1 HG01256.hp1 HG01258.hp1 HG02300.hp2 HG02717.hp1 HG02965.hp2 HG03516.hp2 HG03654.hp1 HG06807.hp1 NA18950.hp1 NA18951.hp1 NA18952.hp2 NA18959.hp2 NA18982.hp1 NA18983.hp2 NA19077.hp2 NA20129.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0017 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0017 a0001c0001t0020	a0001c0001t0002g0022 a0001c0001t0002g0029 a0001c0001t0002g0033 others(17): Show a0001c0001t0002g0022 a0001c0001t0002g0029 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0037 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0069 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0017g0035 a0001c0001t0020g0097	20	264	0.0758	20	c.547 others(37): Show c.547+2276_547+2295dupGTGTGTGTGTGTGTGTGTGT	LEF1	ENSG00000138795.10	transcript	ENST00000265165.6	protein_coding	4/11			chr4	TogoVar
LEF1_chr4_108042548_108173932	108132659	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01516.hp2 NA18971.hp1 HG01070.hp2 HG01516.hp2 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0186 a0001c0001t0001g0191 a0001c0001t0001g0143 a0001c0001t0001g0186 a0001c0001t0001g0191	3	264	0.0114	20	c.414 others(39): Show c.414+30889_414+30908dupAAAAAAAAAAAAAAAAAAAA	LEF1	ENSG00000138795.10	transcript	ENST00000265165.6	protein_coding	3/11			chr4	TogoVar
LEF1_chr4_108042548_108173932	108149458	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03139.hp1 HG02922.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0252 a0001c0001t0003g0250 a0001c0001t0001g0252 a0001c0001t0003g0250	2	264	0.0076	20	c.414 others(39): Show c.414+14109_414+14110insTTTTTTTTTTTTTTTTTTTT	LEF1	ENSG00000138795.10	transcript	ENST00000265165.6	protein_coding	3/11			chr4	TogoVar
LEKR1_chr3_156821353_157051129	156899649	T T	TATATACA others(13): Show TATATACACGCATATATACAC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0052 a0001c0004t0001g0052	1	244	0.0041	20	c.264 others(39): Show c.264-20920_264-20901dupCACGCATATATACACATATA	LEKR1	ENSG00000197980.14	transcript	ENST00000356539.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
LEMD3_chr12_65164583_65253355	65180989	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0042 a0001c0001t0005g0042	1	398	0.0025	20	c.152 others(39): Show c.1522+9873_1522+9892dupCACACACACACACACACACA	LEMD3	ENSG00000174106.3	transcript	ENST00000308330.3	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
LEMD3_chr12_65164583_65253355	65193732	C C	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	398	0.0025	20	c.152 others(41): Show c.1523-17170_1523-17151dupGTGTGTGTGTGTGTGTGTGT	LEMD3	ENSG00000174106.3	transcript	ENST00000308330.3	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
LEMD3_chr12_65164583_65253355	65213087	A A	AAGATAGA others(13): Show AAGATAGATAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02280.hp2 HG02723.hp2 others(4): Show HG02257.hp1 HG02280.hp2 HG02723.hp2 HG02896.hp2 HG03041.hp1 HG03139.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0008 a0001c0001t0005 a0001c0001t0008	a0001c0001t0005g0030 a0001c0001t0005g0034 a0001c0001t0005g0035 others(4): Show a0001c0001t0005g0030 a0001c0001t0005g0034 a0001c0001t0005g0035 a0001c0001t0005g0036 a0001c0001t0005g0038 a0001c0001t0005g0041 a0001c0001t0008g0040	7	398	0.0176	20	c.156 others(39): Show c.1560+2134_1560+2153dupGATAGATAGATAGATAGATA	LEMD3	ENSG00000174106.3	transcript	ENST00000308330.3	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
LEO1_chr15_51933025_51976778	51934711	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp2 HG03098.hp2 NA18943.hp1 others(9): Show HG02132.hp2 HG03098.hp2 NA18943.hp1 NA18944.hp1 NA18947.hp1 NA18962.hp2 NA18969.hp1 NA18989.hp2 NA19002.hp2 NA19005.hp2 NA19009.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0052 a0001c0001t0001g0174 others(8): Show a0001c0001t0001g0006 a0001c0001t0001g0052 a0001c0001t0001g0174 a0001c0001t0001g0192 a0001c0001t0001g0205 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0252	12	388	0.0309	20	c.34 others(31): Show c.3425_*3444dupTTTTTTTTTTTTTTTTTTTT	LEO1	ENSG00000166477.13	transcript	ENST00000299601.10	protein_coding		3313		chr15	TogoVar
LEPROT_chr1_65415668_65441007	65417065	C C	CATATATA others(13): Show CATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp1 NA18998.hp1 NA20752.hp1 HG02300.hp1 NA18998.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0001 a0001c0001t0008g0024 a0001c0001t0001g0001 a0001c0001t0008g0024	3	402	0.0075	20	c.-36 others(31): Show c.-3660_-3659insATATATATATATATATATAT	LEPROT	ENSG00000213625.9	transcript	ENST00000371065.9	protein_coding		3602		chr1	TogoVar
LEPR_chr1_65415668_65646559	65417065	C C	CATATATA others(13): Show CATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18998.hp1 NA20752.hp1 NA18998.hp1 NA20752.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0009 a0002c0010t0016 a0002c0010t0009 a0002c0010t0016	a0002c0010t0009g0047 a0002c0010t0016g0055 a0002c0010t0009g0047 a0002c0010t0016g0055	2	216	0.0093	20	c.-37 others(31): Show c.-3772_-3771insATATATATATATATATATAT	LEPR	ENSG00000116678.20	transcript	ENST00000349533.11	protein_coding		3602		chr1	TogoVar
LEPR_chr1_65415668_65646559	65472411	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01167.hp2 HG02257.hp2 others(5): Show HG00621.hp2 HG01167.hp2 HG02257.hp2 HG02809.hp1 HG02976.hp2 HG03139.hp2 NA19030.hp2 NA19043.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0001 a0002c0002 a0005c0012 others(1): Show a0001c0001 a0002c0002 a0005c0012 a0006c0013	a0001c0001t0031 a0001c0001t0042 a0002c0002t0005 others(2): Show a0001c0001t0031 a0001c0001t0042 a0002c0002t0005 a0005c0012t0002 a0006c0013t0022	a0001c0001t0031g0018 a0001c0001t0042g0160 a0002c0002t0005g0124 others(5): Show a0001c0001t0031g0018 a0001c0001t0042g0160 a0002c0002t0005g0124 a0005c0012t0002g0171 a0005c0012t0002g0172 a0005c0012t0002g0176 a0005c0012t0002g0177 a0006c0013t0022g0096	8	216	0.0370	20	c.-21 others(39): Show c.-21+47048_-21+47067dupACACACACACACACACACAC	LEPR	ENSG00000116678.20	transcript	ENST00000349533.11	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
LEPR_chr1_65415668_65646559	65488107	C C	CTCTTTCT others(13): Show CTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0026 a0003c0011t0026	a0003c0011t0026g0105 a0003c0011t0026g0105	1	216	0.0046	20	c.-21 others(39): Show c.-21+62732_-21+62751dupTTTCTTTCTTTCTTTCTTTC	LEPR	ENSG00000116678.20	transcript	ENST00000349533.11	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
LEPR_chr1_65415668_65646559	65488141	C C	CTCCTTCC others(13): Show CTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02895.hp1 HG02647.hp2 HG02895.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0008 a0001c0008t0008	a0001c0008t0008g0121 a0001c0008t0008g0122 a0001c0008t0008g0121 a0001c0008t0008g0122	2	216	0.0093	20	c.-21 others(39): Show c.-21+62765_-21+62784dupCCTTCCTTCCTTCCTTCCTT	LEPR	ENSG00000116678.20	transcript	ENST00000349533.11	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
LEPR_chr1_65415668_65646559	65488159	C C	CCTTCCTT others(13): Show CCTTCCTTCCTTCCTTTCTTT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0006 a0001c0008t0006	a0001c0008t0006g0062 a0001c0008t0006g0062	1	216	0.0046	20	c.-21 others(39): Show c.-21+62784_-21+62785insCCTTCCTTCCTTTCTTTCTT	LEPR	ENSG00000116678.20	transcript	ENST00000349533.11	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
LEPR_chr1_65415668_65646559	65488159	C C	CCTTCCTT others(13): Show CCTTCCTTCCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0025 a0002c0025t0025	a0002c0025t0025g0015 a0002c0025t0025g0015	1	216	0.0046	20	c.-21 others(39): Show c.-21+62784_-21+62785insCCTTCCTTTCTTTCTTTCTT	LEPR	ENSG00000116678.20	transcript	ENST00000349533.11	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
LEPR_chr1_65415668_65646559	65488222	C C	CTCTTTCT others(13): Show CTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0010 a0001c0009t0010	a0001c0009t0010g0076 a0001c0009t0010g0076	1	216	0.0046	20	c.-21 others(39): Show c.-21+62847_-21+62848insTTCTTTCTTTCTTTCTTTCT	LEPR	ENSG00000116678.20	transcript	ENST00000349533.11	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
LEPR_chr1_65415668_65646559	65488226	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0065 a0001c0001t0030g0065	1	216	0.0046	20	c.-21 others(39): Show c.-21+62851_-21+62852insCTCTCTCTTTCTTTCTTTCT	LEPR	ENSG00000116678.20	transcript	ENST00000349533.11	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
LEPR_chr1_65415668_65646559	65518873	T T	TTTTCTTT others(13): Show TTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA18946.hp2 HG02976.hp1 NA18946.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0004 a0002c0002 a0003c0004	a0002c0002t0001 a0003c0004t0018 a0002c0002t0001 a0003c0004t0018	a0002c0002t0001g0057 a0003c0004t0018g0150 a0002c0002t0001g0057 a0003c0004t0018g0150	2	216	0.0093	20	c.-20 others(39): Show c.-20-46647_-20-46628dupTTCTTTCTTTCTTTCTTTCT	LEPR	ENSG00000116678.20	transcript	ENST00000349533.11	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
LETM1_chr4_1806479_1861156	1860697	A A	ATATATAT others(13): Show ATATATATATATATATATTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0025 a0006c0006t0025	a0006c0006t0025g0025 a0006c0006t0025g0025	1	200	0.0050	20	c.-47 others(31): Show c.-4748_-4747insAAAATATATATATATATATA	LETM1	ENSG00000168924.15	transcript	ENST00000302787.3	protein_coding		4542		chr4	TogoVar
LEXM_chr1_54801063_54847252	54820112	C C	CTCTTTCT others(13): Show CTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19091.hp2 NA19090.hp2 NA19091.hp2	a0003 a0003	a0003c0006 a0003c0020 a0003c0006 a0003c0020	a0003c0006t0001 a0003c0020t0004 a0003c0006t0001 a0003c0020t0004	a0003c0006t0001g0277 a0003c0020t0004g0287 a0003c0006t0001g0277 a0003c0020t0004g0287	2	382	0.0052	20	c.118 others(39): Show c.1184+2998_1184+3017dupTTCTTTCTTTCTTTCTTTCT	LEXM	ENSG00000162398.12	transcript	ENST00000371273.4	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
LGALS16_chr19_39650913_39665647	39663851	T T	TATATATG others(13): Show TATATATGTATGTATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG03041.hp1 HG03471.hp2 HG02615.hp1 HG03041.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	3	442	0.0068	20	c.33 others(31): Show c.3331_*3332insATATATGTATGTATATATAC	LGALS16	ENSG00000249861.4	transcript	ENST00000392051.4	protein_coding		3205		chr19	TogoVar
LGALS8_chr1_236518982_236557981	236538101	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	450	0.0022	20	c.134 others(35): Show c.134+519_134+520insAAAAAAAAAAAAAAAAGAAA	LGALS8	ENSG00000116977.19	transcript	ENST00000366584.9	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
LGALS9C_chr17_18471789_18499945	18484599	G G	GTGCAGCT others(13): Show GTGCAGCTCTCTCCTGGTTTA	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	291	0.0034	20	c.131 others(35): Show c.131+634_131+653dupTGCAGCTCTCTCCTGGTTTA	LGALS9C	ENSG00000171916.17	transcript	ENST00000328114.11	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
LGR4_chr11_27360961_27477790	27474121	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp1 NA18967.hp2 NA18978.hp2 others(2): Show NA18960.hp1 NA18967.hp2 NA18978.hp2 NA19081.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0008 a0001c0002t0033 a0001c0001t0002 a0001c0002t0008 a0001c0002t0033	a0001c0001t0002g0232 a0001c0002t0008g0190 a0001c0002t0008g0196 others(2): Show a0001c0001t0002g0232 a0001c0002t0008g0190 a0001c0002t0008g0196 a0001c0002t0008g0237 a0001c0002t0033g0171	5	244	0.0205	20	c.-18 others(31): Show c.-1820_-1819insTTTTTTTTTTTTTTTTTTTT	LGR4	ENSG00000205213.14	transcript	ENST00000379214.9	protein_coding		1332		chr11	TogoVar
LGR5_chr12_71434798_71591310	71448084	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0014 a0001c0001t0004g0014	1	200	0.0050	20	c.212 others(37): Show c.212+7802_212+7821dupCACACACACACACACACACA	LGR5	ENSG00000139292.13	transcript	ENST00000266674.10	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
LGR5_chr12_71434798_71591310	71548301	C C	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0020 a0002c0003t0001g0020	1	200	0.0050	20	c.429 others(37): Show c.429-4767_429-4748dupTGTGTGTGTGTGTGTGTGTG	LGR5	ENSG00000139292.13	transcript	ENST00000266674.10	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
LGR5_chr12_71434798_71591310	71565422	C C	CTATATAT others(13): Show CTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0001 a0008c0015t0001	a0008c0015t0001g0031 a0008c0015t0001g0031	1	200	0.0050	20	c.858 others(35): Show c.858-979_858-960dupTATATATATATATATATATA	LGR5	ENSG00000139292.13	transcript	ENST00000266674.10	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
LGR6_chr1_202188799_202324761	202205969	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02976.hp1 HG03041.hp2 others(2): Show HG02818.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03579.hp1	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0002 a0003c0024 a0004c0003 a0002c0002 a0003c0024 a0004c0003	a0002c0002t0003 a0003c0024t0004 a0004c0003t0003 a0002c0002t0003 a0003c0024t0004 a0004c0003t0003	a0002c0002t0003g0025 a0002c0002t0003g0094 a0003c0024t0004g0022 others(2): Show a0002c0002t0003g0025 a0002c0002t0003g0094 a0003c0024t0004g0022 a0004c0003t0003g0023 a0004c0003t0003g0024	5	262	0.0191	20	c.212 others(39): Show c.212+11769_212+11788dupACACACACACACACACACAC	LGR6	ENSG00000133067.18	transcript	ENST00000367278.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
LGSN_chr6_63270951_63324983	63281304	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0221 a0001c0001t0004g0221	1	312	0.0032	20	c.331 others(34): Show c.331-104_331-85dupATATATATATATATATATAT	LGSN	ENSG00000146166.17	transcript	ENST00000370657.9	protein_coding	3/3			chr6	TogoVar
LHB_chr19_49010980_49022091	49012843	C C	CCACACAC others(13): Show CCACACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0003 a0001c0003t0001g0003	1	410	0.0024	20	c.32 others(31): Show c.3205_*3224dupTGTGTGTGTGTGTGTGTGTG	LHB	ENSG00000104826.15	transcript	ENST00000649238.3	protein_coding		3136		chr19	TogoVar
LHCGR_chr2_48681774_48760724	48752986	G G	GGGGTGGG others(13): Show GGGGTGGGGGGTGGGGGGGGT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0350 a0004c0004t0001g0350	1	374	0.0027	20	c.161 others(37): Show c.161+2524_161+2525insACCCCCCCCACCCCCCACCC	LHCGR	ENSG00000138039.15	transcript	ENST00000294954.12	protein_coding	1/10			chr2	TogoVar
LHCGR_chr2_48681774_48760724	48752991	G G	GGGGGGGT others(13): Show GGGGGGGTGGGGGGGTGGGGT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00639.hp2 HG01123.hp2 others(7): Show HG00423.hp1 HG00639.hp2 HG01123.hp2 HG01175.hp2 HG02055.hp2 HG02683.hp1 HG02965.hp1 HG03139.hp1 HG03486.hp2 HG03704.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0005 a0007	a0001c0001 a0003c0003 a0004c0004 others(2): Show a0001c0001 a0003c0003 a0004c0004 a0005c0008 a0007c0009	a0001c0001t0001 a0003c0003t0004 a0004c0004t0001 others(2): Show a0001c0001t0001 a0003c0003t0004 a0004c0004t0001 a0005c0008t0004 a0007c0009t0004	a0001c0001t0001g0106 a0001c0001t0001g0300 a0003c0003t0004g0338 others(6): Show a0001c0001t0001g0106 a0001c0001t0001g0300 a0003c0003t0004g0338 a0004c0004t0001g0336 a0004c0004t0001g0337 a0004c0004t0001g0339 a0004c0004t0001g0349 a0005c0008t0004g0012 a0007c0009t0004g0099	10	374	0.0267	20	c.161 others(37): Show c.161+2519_161+2520insACCCCACCCCCCCACCCCCC	LHCGR	ENSG00000138039.15	transcript	ENST00000294954.12	protein_coding	1/10			chr2	TogoVar
LHCGR_chr2_48681774_48760724	48752991	G G	GGGGGGTG others(13): Show GGGGGGTGGGGGGGGTGGGGT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01256.hp1 HG02004.hp2 others(5): Show HG00735.hp1 HG01256.hp1 HG02004.hp2 HG02258.hp2 HG02735.hp1 HG02895.hp2 HG03831.hp2 NA19085.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004	a0001c0001t0001 a0002c0002t0002 a0003c0003t0001 others(2): Show a0001c0001t0001 a0002c0002t0002 a0003c0003t0001 a0003c0003t0002 a0004c0004t0001	a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0321 others(5): Show a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0321 a0002c0002t0002g0322 a0002c0002t0002g0323 a0003c0003t0001g0353 a0003c0003t0002g0354 a0004c0004t0001g0352	8	374	0.0214	20	c.161 others(37): Show c.161+2519_161+2520insACCCCACCCCCCCCACCCCC	LHCGR	ENSG00000138039.15	transcript	ENST00000294954.12	protein_coding	1/10			chr2	TogoVar
LHFPL2_chr5_78480230_78653772	78609450	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0226 a0001c0001t0008g0226	1	254	0.0039	20	c.-24 others(41): Show c.-245+22794_-245+22813dupTTTTTTTTTTTTTTTTTTTT	LHFPL2	ENSG00000145685.14	transcript	ENST00000380345.7	protein_coding	2/4			chr5	TogoVar
LHFPL2_chr5_78480230_78653772	78641906	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0181 a0001c0001t0006g0181	1	254	0.0039	20	c.-35 others(39): Show c.-350+6573_-350+6592dupGTGTGTGTGTGTGTGTGTGT	LHFPL2	ENSG00000145685.14	transcript	ENST00000380345.7	protein_coding	1/4			chr5	TogoVar
LHFPL2_chr5_78480230_78653772	78651583	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG02486.hp1 HG02486.hp2 others(4): Show HG01175.hp1 HG02486.hp1 HG02486.hp2 HG02965.hp1 HG02976.hp1 HG03453.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0013 a0001c0002t0003	a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0004g0052 others(4): Show a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0004g0052 a0001c0001t0007g0096 a0001c0001t0008g0072 a0001c0001t0013g0060 a0001c0002t0003g0058	7	254	0.0276	20	c.-34 others(31): Show c.-3454_-3435dupTTTTTTTTTTTTTTTTTTTT	LHFPL2	ENSG00000145685.14	transcript	ENST00000380345.7	protein_coding		2812		chr5	TogoVar
LHFPL3_chr7_104323603_104913561	104430427	T T	TATATATG others(13): Show TATATATGTATATATATATAC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01168.hp2 HG01255.hp2 HG01123.hp2 HG01168.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0041 a0001c0001t0002g0037 a0001c0001t0004g0036 a0001c0001t0001g0041 a0001c0001t0002g0037 a0001c0001t0004g0036	3	86	0.0349	20	c.445 others(41): Show c.445+101209_445+101210insGTATATATATATACATATAT	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
LHFPL3_chr7_104323603_104913561	104585480	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG03239.hp1 HG00558.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0003 a0001c0001t0004g0028 a0001c0001t0003g0003 a0001c0001t0004g0028	2	86	0.0233	20	c.446 others(41): Show c.446-151172_446-151153dupACACACACACACACACACAC	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
LHFPL3_chr7_104323603_104913561	104666512	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0021 a0001c0001t0008g0021	1	86	0.0116	20	c.446 others(39): Show c.446-70155_446-70136dupTTTTTTTTTTTTTTTTTTTT	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
LHFPL4_chr3_9493361_9558822	9518925	G G	GTTTATTT others(13): Show GTTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0323 a0001c0001t0026g0323	1	360	0.0028	20	c.407 others(39): Show c.407-12742_407-12723dupTAAATAAATAAATAAATAAA	LHFPL4	ENSG00000156959.9	transcript	ENST00000287585.8	protein_coding	2/3			chr3	TogoVar
LHFPL4_chr3_9493361_9558822	9547787	C C	CTTTGTTT others(13): Show CTTTGTTTTGTTTTGTTTTGT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0111 a0001c0001t0036g0111	1	360	0.0028	20	c.406 others(37): Show c.406+4467_406+4486dupACAAAACAAAACAAAACAAA	LHFPL4	ENSG00000156959.9	transcript	ENST00000287585.8	protein_coding	2/3			chr3	TogoVar
LHFPL4_chr3_9493361_9558822	9556116	T T	TCACACAC others(13): Show TCACACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG01167.hp1 HG01981.hp2 others(15): Show HG01099.hp1 HG01167.hp1 HG01981.hp2 HG02055.hp1 HG02132.hp1 HG02572.hp2 HG02723.hp2 HG02818.hp1 NA18522.hp2 NA18945.hp1 NA18961.hp1 NA18972.hp1 NA18986.hp2 NA19075.hp1 NA19080.hp2 NA19084.hp2 NA19086.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0001t0014 a0001c0001t0024	a0001c0001t0002g0062 a0001c0001t0002g0070 a0001c0001t0002g0087 others(15): Show a0001c0001t0002g0062 a0001c0001t0002g0070 a0001c0001t0002g0087 a0001c0001t0002g0154 a0001c0001t0003g0003 a0001c0001t0003g0007 a0001c0001t0003g0018 a0001c0001t0003g0020 a0001c0001t0003g0027 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0040 a0001c0001t0003g0084 a0001c0001t0006g0157 a0001c0001t0010g0141 a0001c0001t0014g0155 a0001c0001t0024g0078	18	360	0.0500	20	c.-26 others(31): Show c.-2601_-2600insTGTGTGTGTGTGTGTGTGTG	LHFPL4	ENSG00000156959.9	transcript	ENST00000287585.8	protein_coding		2295		chr3	TogoVar
LHFPL4_chr3_9493361_9558822	9556778	G G	GAGAAAGA others(13): Show GAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0337 a0001c0001t0009g0337	1	360	0.0028	20	c.-32 others(31): Show c.-3263_-3262insTTCTTTCTTTCTTTCTTTCT	LHFPL4	ENSG00000156959.9	transcript	ENST00000287585.8	protein_coding		2957		chr3	TogoVar
LHFPL4_chr3_9493361_9558822	9556778	G G	GAGAGAGA others(13): Show GAGAGAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00738.hp2 HG01433.hp1 others(5): Show HG00323.hp1 HG00738.hp2 HG01433.hp1 HG02055.hp2 HG02165.hp1 HG02486.hp2 HG02738.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0023	a0001c0001t0002g0002 a0001c0001t0002g0125 a0001c0001t0003g0127 others(5): Show a0001c0001t0002g0002 a0001c0001t0002g0125 a0001c0001t0003g0127 a0001c0001t0011g0163 a0001c0001t0013g0113 a0001c0001t0013g0117 a0001c0001t0014g0153 a0001c0001t0023g0107	8	360	0.0222	20	c.-32 others(31): Show c.-3263_-3262insTTCTTTCTTTCTTTCTCTCT	LHFPL4	ENSG00000156959.9	transcript	ENST00000287585.8	protein_coding		2957		chr3	TogoVar
LHFPL4_chr3_9493361_9558822	9557420	G G	GGAAAGAA others(13): Show GGAAAGAAAGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00642.hp1 others(26): Show HG00280.hp2 HG00408.hp2 HG00642.hp1 HG00642.hp2 HG01069.hp1 HG01167.hp2 HG01258.hp1 HG02132.hp2 HG02148.hp2 HG02735.hp2 HG02809.hp1 HG03486.hp2 HG03831.hp1 HG04184.hp2 NA18942.hp1 NA18950.hp1 NA18952.hp2 NA18961.hp2 NA18990.hp1 NA18991.hp1 NA18999.hp1 NA19003.hp2 NA19011.hp2 NA19066.hp1 NA19066.hp2 NA19079.hp2 NA19080.hp1 NA20300.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0016 a0001c0001t0017 a0001c0001t0044	a0001c0001t0001g0006 a0001c0001t0001g0192 a0001c0001t0001g0193 others(26): Show a0001c0001t0001g0006 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0200 a0001c0001t0001g0241 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0277 a0001c0001t0001g0282 a0001c0001t0001g0296 a0001c0001t0001g0312 a0001c0001t0001g0316 a0001c0001t0002g0048 a0001c0001t0003g0072 a0001c0001t0004g0205 a0001c0001t0004g0286 a0001c0001t0004g0293 a0001c0001t0005g0206 a0001c0001t0005g0222 a0001c0001t0005g0226 a0001c0001t0007g0016 a0001c0001t0009g0213 a0001c0001t0011g0274 a0001c0001t0016g0326 a0001c0001t0017g0236 a0001c0001t0044g0272	29	360	0.0806	20	c.-39 others(31): Show c.-3905_-3904insTTTCTTTCTTTCTTTCTTTC	LHFPL4	ENSG00000156959.9	transcript	ENST00000287585.8	protein_coding		3599		chr3	TogoVar
LHFPL4_chr3_9493361_9558822	9557493	G G	GAGAAAGA others(13): Show GAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00597.hp1 HG00735.hp1 others(8): Show HG00099.hp2 HG00597.hp1 HG00735.hp1 HG01515.hp2 HG01517.hp2 HG02273.hp2 HG03486.hp2 HG03654.hp1 HG03654.hp2 HG03942.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 a0001c0001t0015 a0001c0001t0017 a0001c0001t0021 a0001c0001t0030 a0001c0004t0007	a0001c0001t0001g0204 a0001c0001t0001g0223 a0001c0001t0001g0255 others(8): Show a0001c0001t0001g0204 a0001c0001t0001g0223 a0001c0001t0001g0255 a0001c0001t0004g0291 a0001c0001t0012g0165 a0001c0001t0015g0242 a0001c0001t0015g0243 a0001c0001t0017g0236 a0001c0001t0021g0270 a0001c0001t0030g0315 a0001c0004t0007g0008	11	360	0.0306	20	c.-39 others(31): Show c.-3978_-3977insTTCTTTCTTTCTTTCTTTCT	LHFPL4	ENSG00000156959.9	transcript	ENST00000287585.8	protein_coding		3672		chr3	TogoVar
LHFPL4_chr3_9493361_9558822	9557540	A A	AAAGAAAG others(13): Show AAAGAAAGAAAGAAAGAAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0099 a0001c0001t0008g0099	1	360	0.0028	20	c.-40 others(31): Show c.-4025_-4024insCCTTTCTTTCTTTCTTTCTT	LHFPL4	ENSG00000156959.9	transcript	ENST00000287585.8	protein_coding		3719		chr3	TogoVar
LHFPL4_chr3_9493361_9558822	9557542	A A	AGAAAGAA others(13): Show AGAAAGAAAGAAAGAAAGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 NA21309.hp2 HG03225.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0008 a0001c0001t0007 a0001c0001t0008	a0001c0001t0007g0014 a0001c0001t0008g0088 a0001c0001t0007g0014 a0001c0001t0008g0088	2	360	0.0056	20	c.-40 others(31): Show c.-4027_-4026insCTTCTTTCTTTCTTTCTTTC	LHFPL4	ENSG00000156959.9	transcript	ENST00000287585.8	protein_coding		3721		chr3	TogoVar

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