Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
COA5_chr2_98594314_98613512	98601223	C C	CAATAAAT others(1): Show CAATAAATA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02109.hp2 HG02258.hp1 others(8): Show HG01261.hp1 HG02109.hp2 HG02258.hp1 HG02559.hp1 HG02615.hp2 HG02976.hp1 HG03017.hp1 HG03453.hp1 HG03540.hp2 NA18906.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0015 a0001c0001t0016	a0001c0001t0001g0076 a0001c0001t0004g0023 a0001c0001t0004g0030 others(4): Show a0001c0001t0001g0076 a0001c0001t0004g0023 a0001c0001t0004g0030 a0001c0001t0004g0046 a0001c0001t0006g0021 a0001c0001t0015g0045 a0001c0001t0016g0085	11	420	0.0262	8	c.184 others(23): Show c.184-438_184-431dupTATTTATT	COA5	ENSG00000183513.9	transcript	ENST00000328709.8	protein_coding	2/2			chr2	TogoVar
COA6_chr1_234368456_234390080	234377059	C C	CGAGAGAG others(1): Show CGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01515.hp2 HG01993.hp1 others(3): Show HG00099.hp1 HG01515.hp2 HG01993.hp1 HG02559.hp2 HG02630.hp2 HG02818.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0059 a0001c0001t0001g0060 a0002c0002t0001g0023 others(1): Show a0001c0001t0001g0059 a0001c0001t0001g0060 a0002c0002t0001g0023 a0002c0002t0001g0160	6	406	0.0148	8	c.372 others(25): Show c.372+2705_372+2712dupGAGAGAGA	COA6	ENSG00000168275.16	transcript	ENST00000366615.10	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
COA6_chr1_234368456_234390080	234383036	A A	AAGGGAGG others(1): Show AAGGGAGGG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00642.hp2 HG00733.hp2 others(22): Show HG00280.hp2 HG00642.hp2 HG00733.hp2 HG00738.hp2 HG01099.hp1 HG01099.hp2 HG01192.hp2 HG01255.hp2 HG01346.hp1 HG01358.hp1 HG01516.hp2 HG02004.hp2 HG03017.hp1 HG03490.hp1 HG03669.hp1 HG03704.hp2 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04228.hp2 NA18952.hp1 NA18974.hp1 NA18977.hp1 NA19082.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0057 a0002c0002t0001g0016 a0002c0002t0001g0022 others(13): Show a0001c0001t0001g0057 a0002c0002t0001g0016 a0002c0002t0001g0022 a0002c0002t0001g0024 a0002c0002t0001g0041 a0002c0002t0001g0046 a0002c0002t0001g0128 a0002c0002t0001g0132 a0002c0002t0001g0141 a0002c0002t0001g0143 a0002c0002t0001g0154 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0165 a0002c0002t0001g0170 a0002c0002t0001g0171	25	406	0.0616	8	c.373 others(23): Show c.373-661_373-654dupGGGAGGGA	COA6	ENSG00000168275.16	transcript	ENST00000366615.10	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
COA6_chr1_234368456_234390080	234383573	G G	GACACACA others(1): Show GACACACAC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02615.hp1 HG02622.hp1 others(8): Show HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02965.hp1 HG02970.hp1 HG03098.hp2 HG03471.hp2 HG03579.hp1 NA18522.hp1 NA19043.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0028 a0001c0001t0001g0063 others(4): Show a0001c0001t0001g0013 a0001c0001t0001g0028 a0001c0001t0001g0063 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0107 a0001c0001t0001g0113	11	406	0.0271	8	c.373 others(23): Show c.373-132_373-125dupCACACACA	COA6	ENSG00000168275.16	transcript	ENST00000366615.10	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
COA7_chr1_52679449_52703347	52690667	C C	CATTTATT others(1): Show CATTTATTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02559.hp2 HG02572.hp2 others(9): Show HG02280.hp2 HG02559.hp2 HG02572.hp2 HG02717.hp1 HG02886.hp1 HG03098.hp2 HG03130.hp2 HG03453.hp2 HG03486.hp2 HG04115.hp1 NA18971.hp2 NA18987.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0004 a0001c0001 a0002c0002 a0002c0004	a0001c0001t0003 a0001c0001t0019 a0002c0002t0002 others(2): Show a0001c0001t0003 a0001c0001t0019 a0002c0002t0002 a0002c0002t0008 a0002c0004t0008	a0001c0001t0003g0192 a0001c0001t0003g0201 a0001c0001t0019g0231 others(9): Show a0001c0001t0003g0192 a0001c0001t0003g0201 a0001c0001t0019g0231 a0001c0001t0019g0232 a0002c0002t0002g0175 a0002c0002t0008g0062 a0002c0002t0008g0153 a0002c0002t0008g0155 a0002c0002t0008g0157 a0002c0002t0008g0159 a0002c0002t0008g0160 a0002c0004t0008g0154	12	416	0.0289	8	c.247 others(25): Show c.247+2052_247+2059dupAAATAAAT	COA7	ENSG00000162377.6	transcript	ENST00000371538.5	protein_coding	2/2			chr1	TogoVar
COA8_chr14_103557960_103595896	103582737	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02109.hp1 HG02717.hp1 others(7): Show HG01884.hp2 HG02109.hp1 HG02717.hp1 HG02818.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 NA18522.hp1 NA19030.hp2 NA20129.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0002 a0003c0004t0001 a0003c0004t0002	a0003c0004t0001g0010 a0003c0004t0001g0098 a0003c0004t0002g0011 others(5): Show a0003c0004t0001g0010 a0003c0004t0001g0098 a0003c0004t0002g0011 a0003c0004t0002g0099 a0003c0004t0002g0101 a0003c0004t0002g0102 a0003c0004t0002g0103 a0003c0004t0002g0104	10	382	0.0262	8	c.386 others(25): Show c.386-4528_386-4521dupTTTTTTTT	COA8	ENSG00000256053.9	transcript	ENST00000409074.8	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr14	TogoVar
COA8_chr14_103557960_103595896	103586200	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp1 HG00438.hp2 others(43): Show HG00280.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00609.hp2 HG00639.hp1 HG00733.hp1 HG01106.hp1 HG01175.hp1 HG01243.hp2 HG01433.hp2 HG01884.hp1 HG01928.hp2 HG01978.hp2 HG01981.hp1 HG02040.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02145.hp2 HG02293.hp1 HG02300.hp2 HG02572.hp1 HG02622.hp2 HG02683.hp2 HG02896.hp1 HG02897.hp1 HG03654.hp2 HG03704.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 NA18944.hp2 NA18953.hp1 NA18961.hp2 NA18972.hp2 NA18980.hp1 NA18981.hp2 NA18990.hp1 NA18995.hp1 NA19054.hp1 NA19077.hp1 NA19087.hp1 NA19090.hp2 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0006 others(1): Show a0001c0001 a0001c0003 a0001c0006 a0003c0004	a0001c0001t0001 a0001c0003t0001 a0001c0006t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0006t0001 a0003c0004t0001	a0001c0001t0001g0278 a0001c0003t0001g0005 a0001c0003t0001g0008 others(38): Show a0001c0001t0001g0278 a0001c0003t0001g0005 a0001c0003t0001g0008 a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0032 a0001c0003t0001g0033 a0001c0003t0001g0034 a0001c0003t0001g0036 a0001c0003t0001g0037 a0001c0003t0001g0043 a0001c0003t0001g0044 a0001c0003t0001g0047 a0001c0003t0001g0048 a0001c0003t0001g0049 a0001c0003t0001g0052 a0001c0003t0001g0053 a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0059 a0001c0003t0001g0060 a0001c0003t0001g0061 a0001c0003t0001g0063 a0001c0003t0001g0066 a0001c0003t0001g0067 a0001c0003t0001g0068 a0001c0003t0001g0070 a0001c0003t0001g0075 a0001c0003t0001g0077 a0001c0003t0001g0080 a0001c0003t0001g0083 a0001c0003t0001g0086 a0001c0003t0001g0088 a0001c0003t0001g0089 a0001c0003t0001g0093 a0001c0003t0001g0096 a0001c0003t0001g0097 a0001c0003t0001g0340 a0001c0006t0001g0081 a0003c0004t0001g0010 a0003c0004t0001g0105	46	382	0.1204	8	c.386 others(25): Show c.386-1059_386-1052dupTTTTTTTT	COA8	ENSG00000256053.9	transcript	ENST00000409074.8	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr14	TogoVar
COBLL1_chr2_164675188_164846823	164683005	T T	TACACACA others(1): Show TACACACAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01496.hp2 HG02970.hp2 HG01496.hp2 HG02970.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0029 a0002c0003t0054 a0001c0001t0029 a0002c0003t0054	a0001c0001t0029g0179 a0002c0003t0054g0169 a0001c0001t0029g0179 a0002c0003t0054g0169	2	212	0.0094	8	c.29 others(19): Show c.2933_*2940dupGTGTGTGT	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	14/14	2940		chr2	TogoVar
COBLL1_chr2_164675188_164846823	164714154	A A	AACACACA others(1): Show AACACACAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03486.hp2 NA19240.hp1 HG01891.hp2 HG03486.hp2 NA19240.hp1	a0001 a0004 a0021 a0001 a0004 a0021	a0001c0001 a0004c0005 a0021c0013 a0001c0001 a0004c0005 a0021c0013	a0001c0001t0002 a0004c0005t0015 a0021c0013t0002 a0001c0001t0002 a0004c0005t0015 a0021c0013t0002	a0001c0001t0002g0074 a0004c0005t0015g0110 a0021c0013t0002g0116 a0001c0001t0002g0074 a0004c0005t0015g0110 a0021c0013t0002g0116	3	212	0.0142	8	c.996 others(25): Show c.996+7913_996+7920dupGTGTGTGT	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	7/13			chr2	TogoVar
COBLL1_chr2_164675188_164846823	164725101	G G	GATATATA others(1): Show GATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01256.hp2 HG01934.hp1 others(3): Show HG01106.hp2 HG01256.hp2 HG01934.hp1 HG02293.hp1 HG02976.hp2 HG03490.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0025 a0003c0004 a0001c0001 a0001c0025 a0003c0004	a0001c0001t0001 a0001c0025t0037 a0003c0004t0006 others(1): Show a0001c0001t0001 a0001c0025t0037 a0003c0004t0006 a0003c0004t0014	a0001c0001t0001g0117 a0001c0025t0037g0069 a0003c0004t0006g0062 others(3): Show a0001c0001t0001g0117 a0001c0025t0037g0069 a0003c0004t0006g0062 a0003c0004t0006g0064 a0003c0004t0006g0065 a0003c0004t0014g0059	6	212	0.0283	8	c.662 others(25): Show c.662-2587_662-2580dupATATATAT	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	5/13			chr2	TogoVar
COBLL1_chr2_164675188_164846823	164799019	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00621.hp1 HG00733.hp1 others(20): Show HG00280.hp2 HG00621.hp1 HG00733.hp1 HG00741.hp2 HG01109.hp2 HG01175.hp2 HG01261.hp2 HG02056.hp1 HG02258.hp1 HG02559.hp2 HG02615.hp2 HG02886.hp2 HG02896.hp2 HG02970.hp2 HG03704.hp2 HG03831.hp2 NA18970.hp1 NA19009.hp1 NA19088.hp1 NA19091.hp1 NA19240.hp2 NA20300.hp2 NA21309.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0014 a0016	a0001c0001 a0001c0002 a0001c0033 others(4): Show a0001c0001 a0001c0002 a0001c0033 a0002c0003 a0004c0005 a0014c0031 a0016c0017	a0001c0001t0001 a0001c0001t0020 a0001c0001t0029 others(11): Show a0001c0001t0001 a0001c0001t0020 a0001c0001t0029 a0001c0001t0044 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0008 a0001c0002t0013 a0001c0033t0008 a0002c0003t0003 a0004c0005t0009 a0014c0031t0022 a0016c0017t0041	a0001c0001t0001g0084 a0001c0001t0001g0089 a0001c0001t0001g0090 others(20): Show a0001c0001t0001g0084 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0105 a0001c0001t0020g0106 a0001c0001t0029g0179 a0001c0001t0044g0173 a0001c0002t0001g0171 a0001c0002t0002g0174 a0001c0002t0004g0098 a0001c0002t0008g0176 a0001c0002t0008g0177 a0001c0002t0013g0182 a0001c0033t0008g0180 a0002c0003t0003g0099 a0002c0003t0003g0104 a0004c0005t0009g0198 a0004c0005t0009g0199 a0014c0031t0022g0181 a0016c0017t0041g0107	23	212	0.1085	8	c.41+ others(25): Show c.41+42129_41+42136dupTTTTTTTT	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COBLL1_chr2_164675188_164846823	164805325	C C	CTATATAT others(1): Show CTATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02896.hp2 HG02897.hp2 HG02630.hp1 HG02896.hp2 HG02897.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0005 a0001c0002 a0004c0005	a0001c0002t0001 a0004c0005t0015 a0001c0002t0001 a0004c0005t0015	a0001c0002t0001g0170 a0001c0002t0001g0171 a0004c0005t0015g0184 a0001c0002t0001g0170 a0001c0002t0001g0171 a0004c0005t0015g0184	3	212	0.0142	8	c.41+ others(25): Show c.41+35830_41+35831insTATATATA	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COBLL1_chr2_164675188_164846823	164805329	C C	CTATATAT others(1): Show CTATATATA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02965.hp2 HG06807.hp2 others(1): Show HG02602.hp2 HG02965.hp2 HG06807.hp2 NA19009.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0001c0002 a0011c0023 a0001c0001 a0001c0002 a0011c0023	a0001c0001t0001 a0001c0001t0002 a0001c0002t0011 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0011 a0011c0023t0001	a0001c0001t0001g0138 a0001c0001t0002g0112 a0001c0002t0011g0201 others(1): Show a0001c0001t0001g0138 a0001c0001t0002g0112 a0001c0002t0011g0201 a0011c0023t0001g0124	4	212	0.0189	8	c.41+ others(25): Show c.41+35826_41+35827insTATATATA	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COBLL1_chr2_164675188_164846823	164805331	C C	CTATATAT others(1): Show CTATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02698.hp2 HG01891.hp1 HG02698.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0030 a0001c0001 a0002c0030	a0001c0001t0001 a0002c0030t0022 a0001c0001t0001 a0002c0030t0022	a0001c0001t0001g0153 a0002c0030t0022g0172 a0001c0001t0001g0153 a0002c0030t0022g0172	2	212	0.0094	8	c.41+ others(25): Show c.41+35824_41+35825insTATATATA	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COBLL1_chr2_164675188_164846823	164805335	C C	CTATATAT others(1): Show CTATATATA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01243.hp2 HG02976.hp1 others(1): Show HG01071.hp2 HG01243.hp2 HG02976.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 a0001c0001 a0001c0002 a0001c0010	a0001c0001t0001 a0001c0002t0004 a0001c0002t0019 others(1): Show a0001c0001t0001 a0001c0002t0004 a0001c0002t0019 a0001c0010t0048	a0001c0001t0001g0013 a0001c0002t0004g0189 a0001c0002t0019g0152 others(1): Show a0001c0001t0001g0013 a0001c0002t0004g0189 a0001c0002t0019g0152 a0001c0010t0048g0185	4	212	0.0189	8	c.41+ others(25): Show c.41+35820_41+35821insTATATATA	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COBLL1_chr2_164675188_164846823	164805337	C C	CTATATAT others(1): Show CTATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03225.hp1 HG01109.hp2 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0008 a0001c0002t0004 a0001c0002t0008	a0001c0002t0004g0186 a0001c0002t0008g0176 a0001c0002t0004g0186 a0001c0002t0008g0176	2	212	0.0094	8	c.41+ others(25): Show c.41+35811_41+35818dupTATATATA	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	2/13			chr2	TogoVar
COBL_chr7_51011212_51321809	51018891	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03710.hp1 NA19010.hp2 others(3): Show HG01109.hp1 HG03710.hp1 NA19010.hp2 NA19055.hp2 NA20300.hp1 NA20905.hp2	a0003 a0004 a0009 others(1): Show a0003 a0004 a0009 a0017	a0003c0001 a0003c0011 a0004c0037 others(2): Show a0003c0001 a0003c0011 a0004c0037 a0009c0012 a0017c0038	a0003c0001t0001 a0003c0011t0001 a0004c0037t0001 others(2): Show a0003c0001t0001 a0003c0011t0001 a0004c0037t0001 a0009c0012t0001 a0017c0038t0001	a0003c0001t0001g0118 a0003c0001t0001g0203 a0003c0011t0001g0068 others(3): Show a0003c0001t0001g0118 a0003c0001t0001g0203 a0003c0011t0001g0068 a0004c0037t0001g0175 a0009c0012t0001g0208 a0017c0038t0001g0154	6	230	0.0261	8	c.376 others(27): Show c.3769-1331_3769-1324dupTTTTTTTT	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	12/12			chr7	TogoVar
COBL_chr7_51011212_51321809	51056812	A A	AACACACA others(1): Show AACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01243.hp1 HG02015.hp2 others(20): Show HG00140.hp2 HG01243.hp1 HG02015.hp2 HG02080.hp2 HG02451.hp1 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG02976.hp1 HG03098.hp2 HG03831.hp1 HG04199.hp1 NA18949.hp2 NA18971.hp2 NA18979.hp1 NA18982.hp1 NA19043.hp1 NA19064.hp1 NA19087.hp2 NA20300.hp1	a0002 a0003 a0004 others(4): Show a0002 a0003 a0004 a0005 a0006 a0007 a0015	a0002c0003 a0002c0007 a0002c0026 others(11): Show a0002c0003 a0002c0007 a0002c0026 a0003c0016 a0004c0009 a0004c0010 a0004c0025 a0004c0037 a0004c0063 a0005c0005 a0006c0008 a0006c0029 a0007c0020 a0015c0027	a0002c0003t0001 a0002c0007t0001 a0002c0026t0001 others(13): Show a0002c0003t0001 a0002c0007t0001 a0002c0026t0001 a0003c0016t0001 a0004c0009t0002 a0004c0010t0001 a0004c0010t0012 a0004c0025t0002 a0004c0037t0001 a0004c0063t0001 a0005c0005t0001 a0005c0005t0003 a0006c0008t0002 a0006c0029t0003 a0007c0020t0003 a0015c0027t0009	a0002c0003t0001g0001 a0002c0003t0001g0002 a0002c0003t0001g0047 others(20): Show a0002c0003t0001g0001 a0002c0003t0001g0002 a0002c0003t0001g0047 a0002c0003t0001g0088 a0002c0003t0001g0190 a0002c0007t0001g0172 a0002c0026t0001g0209 a0002c0026t0001g0211 a0003c0016t0001g0080 a0004c0009t0002g0057 a0004c0010t0001g0129 a0004c0010t0012g0115 a0004c0025t0002g0096 a0004c0037t0001g0175 a0004c0063t0001g0020 a0005c0005t0001g0084 a0005c0005t0003g0150 a0005c0005t0003g0161 a0005c0005t0003g0204 a0006c0008t0002g0163 a0006c0029t0003g0170 a0007c0020t0003g0223 a0015c0027t0009g0165	23	230	0.1000	8	c.109 others(29): Show c.1097-13128_1097-13121dupGTGTGTGT	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	7/12			chr7	TogoVar
COBL_chr7_51011212_51321809	51061946	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp2 HG01074.hp1 others(23): Show HG00140.hp2 HG00639.hp2 HG01074.hp1 HG01081.hp1 HG01884.hp1 HG01884.hp2 HG02080.hp2 HG02257.hp2 HG02622.hp1 HG02809.hp2 HG02818.hp1 HG02896.hp2 HG02897.hp1 HG03098.hp1 HG03130.hp1 NA18747.hp1 NA18747.hp2 NA18949.hp2 NA18951.hp1 NA18960.hp1 NA18960.hp2 NA18971.hp1 NA18979.hp1 NA18983.hp2 NA19002.hp2 NA19065.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0008 a0010 a0021	a0001c0004 a0002c0003 a0003c0016 others(9): Show a0001c0004 a0002c0003 a0003c0016 a0004c0025 a0004c0063 a0005c0005 a0005c0006 a0008c0013 a0010c0030 a0010c0034 a0010c0064 a0021c0048	a0001c0004t0001 a0002c0003t0001 a0003c0016t0001 others(11): Show a0001c0004t0001 a0002c0003t0001 a0003c0016t0001 a0004c0025t0002 a0004c0063t0001 a0005c0005t0001 a0005c0005t0003 a0005c0006t0002 a0005c0006t0003 a0008c0013t0003 a0010c0030t0005 a0010c0034t0005 a0010c0064t0011 a0021c0048t0001	a0001c0004t0001g0078 a0001c0004t0001g0183 a0001c0004t0001g0219 others(23): Show a0001c0004t0001g0078 a0001c0004t0001g0183 a0001c0004t0001g0219 a0002c0003t0001g0091 a0002c0003t0001g0092 a0002c0003t0001g0100 a0003c0016t0001g0076 a0003c0016t0001g0077 a0003c0016t0001g0079 a0003c0016t0001g0080 a0004c0025t0002g0096 a0004c0063t0001g0020 a0005c0005t0001g0084 a0005c0005t0001g0085 a0005c0005t0003g0117 a0005c0005t0003g0161 a0005c0006t0002g0040 a0005c0006t0003g0035 a0005c0006t0003g0036 a0005c0006t0003g0050 a0005c0006t0003g0121 a0008c0013t0003g0221 a0010c0030t0005g0052 a0010c0034t0005g0182 a0010c0064t0011g0062 a0021c0048t0001g0086	26	230	0.1130	8	c.109 others(29): Show c.1097-18255_1097-18254insGTGTGTGT	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	7/12			chr7	TogoVar
COBL_chr7_51011212_51321809	51098224	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG03831.hp2 NA18964.hp1 others(3): Show HG01928.hp1 HG03831.hp2 NA18964.hp1 NA18981.hp2 NA18988.hp1 NA19003.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0014 a0022	a0001c0004 a0002c0003 a0003c0001 others(2): Show a0001c0004 a0002c0003 a0003c0001 a0014c0023 a0022c0047	a0001c0004t0001 a0001c0004t0003 a0002c0003t0002 others(3): Show a0001c0004t0001 a0001c0004t0003 a0002c0003t0002 a0003c0001t0001 a0014c0023t0002 a0022c0047t0001	a0001c0004t0001g0225 a0001c0004t0003g0227 a0002c0003t0002g0226 others(3): Show a0001c0004t0001g0225 a0001c0004t0003g0227 a0002c0003t0002g0226 a0003c0001t0001g0228 a0014c0023t0002g0212 a0022c0047t0001g0217	6	230	0.0261	8	c.958 others(27): Show c.958-12928_958-12921dupAAAAAAAA	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	6/12			chr7	TogoVar
COBL_chr7_51011212_51321809	51108917	G G	GACACACA others(1): Show GACACACAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp1 HG01243.hp2 others(5): Show HG00642.hp1 HG00735.hp1 HG01243.hp2 HG01258.hp1 HG03139.hp1 HG03209.hp1 HG03704.hp2 NA19085.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0030	a0001c0002 a0001c0004 a0003c0001 others(2): Show a0001c0002 a0001c0004 a0003c0001 a0004c0009 a0030c0059	a0001c0002t0002 a0001c0004t0001 a0001c0004t0006 others(3): Show a0001c0002t0002 a0001c0004t0001 a0001c0004t0006 a0003c0001t0001 a0004c0009t0001 a0030c0059t0001	a0001c0002t0002g0071 a0001c0004t0001g0195 a0001c0004t0001g0197 others(5): Show a0001c0002t0002g0071 a0001c0004t0001g0195 a0001c0004t0001g0197 a0001c0004t0006g0003 a0003c0001t0001g0034 a0003c0001t0001g0215 a0004c0009t0001g0014 a0030c0059t0001g0039	8	230	0.0348	8	c.958 others(27): Show c.958-23621_958-23614dupGTGTGTGT	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	6/12			chr7	TogoVar
COBL_chr7_51011212_51321809	51177775	A A	AAAATAAA others(1): Show AAAATAAAT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02723.hp2 HG02922.hp2 others(8): Show HG01978.hp2 HG02723.hp2 HG02922.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03471.hp2 NA18747.hp1 NA18964.hp1 NA19007.hp1 NA20300.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0006 a0010 a0026 a0030	a0001c0004 a0002c0003 a0003c0001 others(5): Show a0001c0004 a0002c0003 a0003c0001 a0005c0006 a0006c0062 a0010c0034 a0026c0061 a0030c0059	a0001c0004t0006 a0002c0003t0001 a0003c0001t0001 others(5): Show a0001c0004t0006 a0002c0003t0001 a0003c0001t0001 a0005c0006t0003 a0006c0062t0004 a0010c0034t0005 a0026c0061t0001 a0030c0059t0001	a0001c0004t0006g0003 a0002c0003t0001g0001 a0002c0003t0001g0002 others(8): Show a0001c0004t0006g0003 a0002c0003t0001g0001 a0002c0003t0001g0002 a0002c0003t0001g0004 a0003c0001t0001g0228 a0005c0006t0003g0038 a0005c0006t0003g0121 a0006c0062t0004g0006 a0010c0034t0005g0182 a0026c0061t0001g0024 a0030c0059t0001g0039	11	230	0.0478	8	c.783 others(25): Show c.783+6319_783+6326dupATTTATTT	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	5/12			chr7	TogoVar
COBL_chr7_51011212_51321809	51187329	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03540.hp1 HG03579.hp2 others(1): Show HG03209.hp2 HG03540.hp1 HG03579.hp2 NA18522.hp1	a0003 a0012 a0016 a0003 a0012 a0016	a0003c0031 a0012c0021 a0016c0022 a0003c0031 a0012c0021 a0016c0022	a0003c0031t0001 a0012c0021t0001 a0016c0022t0001 a0003c0031t0001 a0012c0021t0001 a0016c0022t0001	a0003c0031t0001g0066 a0012c0021t0001g0127 a0016c0022t0001g0125 others(1): Show a0003c0031t0001g0066 a0012c0021t0001g0127 a0016c0022t0001g0125 a0016c0022t0001g0126	4	230	0.0174	8	c.686 others(25): Show c.686-3131_686-3130insGTGTGTGT	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	4/12			chr7	TogoVar
COBL_chr7_51011212_51321809	51206491	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01109.hp2 HG01261.hp2 others(16): Show HG00099.hp1 HG01109.hp2 HG01261.hp2 HG01433.hp2 HG02723.hp2 HG02896.hp1 HG02922.hp2 HG02970.hp1 HG03041.hp2 HG03139.hp1 HG03209.hp2 HG03471.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 NA18522.hp1 NA18975.hp2 NA19003.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0006 a0012 a0016 a0023	a0001c0002 a0001c0004 a0002c0003 others(7): Show a0001c0002 a0001c0004 a0002c0003 a0003c0001 a0003c0031 a0004c0025 a0006c0032 a0012c0021 a0016c0022 a0023c0033	a0001c0002t0002 a0001c0004t0003 a0001c0004t0006 others(8): Show a0001c0002t0002 a0001c0004t0003 a0001c0004t0006 a0002c0003t0001 a0003c0001t0001 a0003c0031t0001 a0004c0025t0002 a0006c0032t0004 a0012c0021t0001 a0016c0022t0001 a0023c0033t0001	a0001c0002t0002g0224 a0001c0004t0003g0227 a0001c0004t0006g0003 others(16): Show a0001c0002t0002g0224 a0001c0004t0003g0227 a0001c0004t0006g0003 a0002c0003t0001g0001 a0002c0003t0001g0002 a0002c0003t0001g0004 a0002c0003t0001g0008 a0002c0003t0001g0067 a0003c0001t0001g0009 a0003c0001t0001g0025 a0003c0001t0001g0113 a0003c0031t0001g0066 a0004c0025t0002g0015 a0006c0032t0004g0065 a0012c0021t0001g0063 a0012c0021t0001g0127 a0016c0022t0001g0125 a0016c0022t0001g0126 a0023c0033t0001g0064	19	230	0.0826	8	c.246 others(27): Show c.246-12910_246-12903dupTTTTTTTT	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	2/12			chr7	TogoVar
COBL_chr7_51011212_51321809	51214272	A A	AAAATAAA others(1): Show AAAATAAAT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02615.hp1 HG02630.hp1 others(8): Show HG02056.hp2 HG02615.hp1 HG02630.hp1 HG02809.hp1 HG03139.hp2 HG04204.hp2 HG06807.hp1 NA18747.hp2 NA18971.hp2 NA18978.hp1 NA18980.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0008	a0001c0002 a0001c0015 a0002c0003 others(5): Show a0001c0002 a0001c0015 a0002c0003 a0002c0028 a0003c0001 a0003c0011 a0005c0005 a0008c0013	a0001c0002t0002 a0001c0015t0001 a0002c0003t0001 others(6): Show a0001c0002t0002 a0001c0015t0001 a0002c0003t0001 a0002c0028t0001 a0003c0001t0001 a0003c0011t0002 a0005c0005t0003 a0008c0013t0003 a0008c0013t0015	a0001c0002t0002g0159 a0001c0015t0001g0169 a0002c0003t0001g0023 others(8): Show a0001c0002t0002g0159 a0001c0015t0001g0169 a0002c0003t0001g0023 a0002c0028t0001g0007 a0002c0028t0001g0128 a0003c0001t0001g0030 a0003c0011t0002g0069 a0005c0005t0003g0134 a0005c0005t0003g0150 a0008c0013t0003g0221 a0008c0013t0015g0230	11	230	0.0478	8	c.245 others(25): Show c.245+5461_245+5468dupATTTATTT	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	2/12			chr7	TogoVar
COBL_chr7_51011212_51321809	51294295	C C	CATAAATA others(1): Show CATAAATAA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02055.hp1 HG03453.hp2 others(5): Show HG01934.hp1 HG02055.hp1 HG03453.hp2 NA18906.hp2 NA18950.hp2 NA18971.hp2 NA18978.hp1 NA18980.hp1	a0001 a0005 a0012 others(2): Show a0001 a0005 a0012 a0013 a0020	a0001c0002 a0001c0015 a0005c0005 others(3): Show a0001c0002 a0001c0015 a0005c0005 a0012c0024 a0013c0017 a0020c0054	a0001c0002t0002 a0001c0015t0001 a0005c0005t0003 others(3): Show a0001c0002t0002 a0001c0015t0001 a0005c0005t0003 a0012c0024t0016 a0013c0017t0001 a0020c0054t0004	a0001c0002t0002g0133 a0001c0002t0002g0159 a0001c0015t0001g0181 others(5): Show a0001c0002t0002g0133 a0001c0002t0002g0159 a0001c0015t0001g0181 a0005c0005t0003g0134 a0005c0005t0003g0150 a0012c0024t0016g0229 a0013c0017t0001g0151 a0020c0054t0004g0180	8	230	0.0348	8	c.41+ others(25): Show c.41+22290_41+22297dupTTATTTAT	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	1/12			chr7	TogoVar
COG1_chr17_73188055_73213507	73190196	A A	AACACACA others(1): Show AACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01069.hp1 HG01074.hp2 others(22): Show HG00639.hp1 HG01069.hp1 HG01074.hp2 HG01081.hp2 HG01123.hp2 HG01256.hp1 HG01258.hp1 HG02109.hp1 HG02257.hp1 HG02683.hp1 HG02698.hp1 HG02895.hp2 HG02896.hp1 HG03017.hp1 HG03017.hp2 HG03471.hp1 HG03490.hp1 HG03492.hp1 HG03704.hp2 HG03927.hp1 NA19006.hp2 NA19066.hp2 NA19074.hp2 NA19087.hp1 NA20129.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0004 a0002c0001 a0003c0005 a0001c0004 a0002c0001 a0003c0005	a0001c0004t0001 a0002c0001t0001 a0003c0005t0001 a0001c0004t0001 a0002c0001t0001 a0003c0005t0001	a0001c0004t0001g0024 a0002c0001t0001g0002 a0002c0001t0001g0005 others(16): Show a0001c0004t0001g0024 a0002c0001t0001g0002 a0002c0001t0001g0005 a0002c0001t0001g0016 a0002c0001t0001g0017 a0002c0001t0001g0019 a0002c0001t0001g0032 a0002c0001t0001g0033 a0002c0001t0001g0077 a0002c0001t0001g0081 a0002c0001t0001g0086 a0002c0001t0001g0114 a0002c0001t0001g0118 a0002c0001t0001g0119 a0002c0001t0001g0120 a0002c0001t0001g0123 a0002c0001t0001g0124 a0003c0005t0001g0018 a0003c0005t0001g0097	25	428	0.0584	8	c.-28 others(19): Show c.-2874_-2873insACACACAC	COG1	ENSG00000166685.13	transcript	ENST00000299886.9	protein_coding		2858		chr17	TogoVar
COG1_chr17_73188055_73213507	73207092	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01168.hp1 HG01168.hp2 others(13): Show HG01069.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG02083.hp2 HG02109.hp1 HG02735.hp1 HG02895.hp2 HG02896.hp1 HG03471.hp1 HG03490.hp1 HG03492.hp1 NA20129.hp1	a0002 a0004 a0002 a0004	a0002c0001 a0004c0007 a0002c0001 a0004c0007	a0002c0001t0001 a0004c0007t0001 a0002c0001t0001 a0004c0007t0001	a0002c0001t0001g0019 a0002c0001t0001g0032 a0002c0001t0001g0033 others(9): Show a0002c0001t0001g0019 a0002c0001t0001g0032 a0002c0001t0001g0033 a0002c0001t0001g0115 a0002c0001t0001g0116 a0002c0001t0001g0117 a0002c0001t0001g0118 a0002c0001t0001g0119 a0002c0001t0001g0120 a0002c0001t0001g0123 a0002c0001t0001g0124 a0004c0007t0001g0019	16	428	0.0374	8	c.273 others(23): Show c.2730-74_2730-67dupAAAAAAAA	COG1	ENSG00000166685.13	transcript	ENST00000299886.9	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
COG2_chr1_230637481_230698982	230640922	G G	GTATATAT others(1): Show GTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG03688.hp2 NA18960.hp1 others(3): Show HG02717.hp1 HG03688.hp2 NA18960.hp1 NA19088.hp1 NA20805.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0001 a0001c0002t0004 a0003c0004t0001 a0001c0001t0001 a0001c0002t0004 a0003c0004t0001	a0001c0001t0001g0127 a0001c0001t0001g0218 a0001c0001t0001g0223 others(3): Show a0001c0001t0001g0127 a0001c0001t0001g0218 a0001c0001t0001g0223 a0001c0001t0001g0300 a0001c0002t0004g0016 a0003c0004t0001g0261	6	406	0.0148	8	c.-16 others(19): Show c.-1685_-1684insTATATATA	COG2	ENSG00000135775.14	transcript	ENST00000366669.9	protein_coding		1558		chr1	TogoVar
COG2_chr1_230637481_230698982	230643589	G G	GTTTTCTA others(1): Show GTTTTCTAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(345): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0007 a0011	a0001c0001 a0001c0002 a0001c0006 others(18): Show a0001c0001 a0001c0002 a0001c0006 a0001c0009 a0001c0010 a0001c0013 a0001c0018 a0001c0019 a0001c0020 a0001c0021 a0002c0003 a0002c0005 a0002c0023 a0003c0004 a0003c0008 a0003c0015 a0004c0007 a0005c0016 a0005c0017 a0007c0022 a0011c0027	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0006t0001 a0001c0009t0001 a0001c0009t0002 a0001c0010t0001 a0001c0013t0001 a0001c0018t0001 a0001c0019t0002 a0001c0020t0004 a0001c0021t0006 a0002c0003t0001 a0002c0005t0001 a0002c0023t0003 a0003c0004t0001 a0003c0004t0002 a0003c0004t0005 a0003c0008t0001 a0003c0008t0003 a0003c0015t0001 a0004c0007t0003 a0005c0016t0005 a0005c0017t0001 a0007c0022t0002 a0011c0027t0001	a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0032 others(266): Show a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0039 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0069 a0001c0001t0001g0079 a0001c0001t0001g0084 a0001c0001t0001g0094 a0001c0001t0001g0100 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0127 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0171 a0001c0001t0001g0213 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0002g0005 a0001c0001t0002g0012 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0121 a0001c0001t0002g0124 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0145 a0001c0001t0002g0150 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0174 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0207 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0250 a0001c0001t0006g0115 a0001c0001t0006g0118 a0001c0001t0007g0042 a0001c0001t0008g0221 a0001c0002t0001g0001 a0001c0002t0001g0028 a0001c0002t0001g0031 a0001c0002t0001g0058 a0001c0002t0001g0060 a0001c0002t0001g0062 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0078 a0001c0002t0001g0080 a0001c0002t0001g0083 a0001c0002t0001g0088 a0001c0002t0001g0229 a0001c0002t0001g0281 a0001c0002t0002g0155 a0001c0002t0002g0168 a0001c0002t0002g0173 a0001c0002t0002g0175 a0001c0002t0002g0179 a0001c0002t0002g0194 a0001c0002t0002g0202 a0001c0002t0002g0212 a0001c0002t0003g0003 a0001c0002t0003g0007 a0001c0002t0003g0021 a0001c0002t0003g0027 a0001c0002t0003g0029 a0001c0002t0003g0030 a0001c0002t0003g0033 a0001c0002t0003g0045 a0001c0002t0003g0056 a0001c0002t0003g0057 a0001c0002t0003g0059 a0001c0002t0003g0064 a0001c0002t0003g0070 a0001c0002t0003g0071 a0001c0002t0003g0076 a0001c0002t0003g0077 a0001c0002t0003g0081 a0001c0002t0003g0082 a0001c0002t0003g0085 a0001c0002t0003g0086 a0001c0002t0003g0122 a0001c0002t0003g0125 a0001c0002t0003g0130 a0001c0002t0003g0156 a0001c0002t0003g0157 a0001c0002t0003g0217 a0001c0002t0003g0220 a0001c0002t0003g0224 a0001c0002t0003g0225 a0001c0002t0003g0226 a0001c0002t0003g0227 a0001c0002t0003g0228 a0001c0002t0003g0230 a0001c0002t0003g0231 a0001c0002t0003g0234 a0001c0002t0003g0237 a0001c0002t0003g0240 a0001c0002t0003g0277 a0001c0002t0004g0002 a0001c0002t0004g0006 a0001c0002t0004g0013 a0001c0002t0004g0014 a0001c0002t0004g0015 a0001c0002t0004g0016 a0001c0002t0004g0021 a0001c0002t0004g0040 a0001c0002t0004g0123 a0001c0002t0004g0126 a0001c0002t0004g0128 a0001c0002t0004g0144 a0001c0002t0004g0146 a0001c0002t0004g0147 a0001c0002t0004g0148 a0001c0002t0004g0149 a0001c0002t0004g0151 a0001c0002t0004g0152 a0001c0002t0004g0153 a0001c0002t0004g0154 a0001c0002t0004g0158 a0001c0002t0004g0159 a0001c0002t0004g0160 a0001c0002t0004g0162 a0001c0002t0004g0163 a0001c0002t0004g0166 a0001c0002t0004g0167 a0001c0002t0004g0169 a0001c0002t0004g0170 a0001c0002t0004g0172 a0001c0002t0004g0176 a0001c0002t0004g0177 a0001c0002t0004g0195 a0001c0002t0004g0196 a0001c0002t0004g0204 a0001c0002t0004g0205 a0001c0002t0004g0206 a0001c0002t0004g0242 a0001c0002t0004g0246 a0001c0002t0004g0247 a0001c0002t0004g0280 a0001c0006t0001g0047 a0001c0006t0001g0048 a0001c0006t0001g0243 a0001c0006t0001g0244 a0001c0006t0001g0245 a0001c0009t0001g0046 a0001c0009t0002g0208 a0001c0010t0001g0278 a0001c0010t0001g0279 a0001c0013t0001g0048 a0001c0018t0001g0065 a0001c0019t0002g0161 a0001c0020t0004g0203 a0001c0021t0006g0116 a0002c0003t0001g0004 a0002c0003t0001g0036 a0002c0003t0001g0037 a0002c0003t0001g0095 a0002c0003t0001g0096 a0002c0003t0001g0097 a0002c0003t0001g0098 a0002c0003t0001g0099 a0002c0003t0001g0101 a0002c0003t0001g0102 a0002c0003t0001g0103 a0002c0003t0001g0104 a0002c0003t0001g0105 a0002c0003t0001g0106 a0002c0003t0001g0107 a0002c0003t0001g0108 a0002c0003t0001g0109 a0002c0003t0001g0110 a0002c0003t0001g0112 a0002c0003t0001g0114 a0002c0003t0001g0131 a0002c0003t0001g0132 a0002c0003t0001g0248 a0002c0003t0001g0249 a0002c0005t0001g0010 a0002c0005t0001g0011 a0002c0005t0001g0038 a0002c0005t0001g0113 a0002c0023t0003g0111 a0003c0004t0001g0051 a0003c0004t0001g0129 a0003c0004t0001g0178 a0003c0004t0001g0257 a0003c0004t0001g0259 a0003c0004t0001g0260 a0003c0004t0001g0261 a0003c0004t0001g0262 a0003c0004t0001g0263 a0003c0004t0001g0267 a0003c0004t0001g0269 a0003c0004t0001g0270 a0003c0004t0001g0271 a0003c0004t0001g0272 a0003c0004t0001g0273 a0003c0004t0001g0275 a0003c0004t0001g0276 a0003c0004t0001g0305 a0003c0004t0002g0201 a0003c0004t0005g0049 a0003c0004t0005g0253 a0003c0004t0005g0254 a0003c0004t0005g0255 a0003c0004t0005g0274 a0003c0008t0001g0266 a0003c0008t0003g0050 a0003c0015t0001g0258 a0004c0007t0003g0251 a0004c0007t0003g0256 a0004c0007t0003g0264 a0004c0007t0003g0265 a0004c0007t0003g0268 a0005c0016t0005g0252 a0005c0017t0001g0087 a0007c0022t0002g0186 a0011c0027t0001g0241	348	406	0.8571	8	c.72+ others(21): Show c.72+918_72+919insTTTTTCTA	COG2	ENSG00000135775.14	transcript	ENST00000366669.9	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
COG3_chr13_45459939_45541701	45521577	G G	GCACACAC others(1): Show GCACACACA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00597.hp1 HG00642.hp1 others(20): Show HG00280.hp1 HG00597.hp1 HG00642.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01516.hp1 HG01975.hp1 HG02015.hp2 HG02572.hp1 HG02622.hp1 HG02723.hp1 HG02818.hp1 HG03041.hp2 HG03486.hp1 HG03516.hp1 HG03669.hp1 HG03831.hp1 HG03942.hp2 HG04199.hp1 HG04228.hp2 NA18906.hp1	a0002 a0002	a0002c0003 a0002c0004 a0002c0005 a0002c0003 a0002c0004 a0002c0005	a0002c0003t0002 a0002c0004t0001 a0002c0004t0010 others(2): Show a0002c0003t0002 a0002c0004t0001 a0002c0004t0010 a0002c0005t0003 a0002c0005t0013	a0002c0003t0002g0209 a0002c0003t0002g0233 a0002c0003t0002g0234 others(20): Show a0002c0003t0002g0209 a0002c0003t0002g0233 a0002c0003t0002g0234 a0002c0003t0002g0237 a0002c0003t0002g0238 a0002c0004t0001g0011 a0002c0004t0001g0012 a0002c0004t0001g0013 a0002c0004t0001g0014 a0002c0004t0001g0015 a0002c0004t0001g0018 a0002c0004t0001g0019 a0002c0004t0001g0020 a0002c0004t0001g0028 a0002c0004t0001g0029 a0002c0004t0001g0030 a0002c0004t0001g0031 a0002c0004t0001g0034 a0002c0004t0001g0038 a0002c0004t0010g0025 a0002c0005t0003g0153 a0002c0005t0003g0192 a0002c0005t0013g0154	23	342	0.0673	8	c.215 others(27): Show c.2154+2501_2154+2508dupACACACAC	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45525634	G G	GTTTTTTT others(1): Show GTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00544.hp1 others(107): Show HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00733.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01516.hp2 HG01928.hp1 HG01934.hp1 HG01975.hp1 HG01981.hp2 HG01993.hp2 HG02040.hp2 HG02055.hp1 HG02071.hp2 HG02074.hp2 HG02109.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02280.hp2 HG02486.hp1 HG02572.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG04184.hp2 HG04199.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18957.hp2 NA18962.hp1 NA18966.hp2 NA18968.hp2 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18977.hp2 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18987.hp1 NA18992.hp1 NA18995.hp1 NA18998.hp2 NA19003.hp2 NA19005.hp1 NA19011.hp1 NA19030.hp1 NA19043.hp1 NA19064.hp2 NA19080.hp1 NA19084.hp1 NA19089.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0007	a0001c0002 a0002c0003 a0002c0005 others(3): Show a0001c0002 a0002c0003 a0002c0005 a0002c0007 a0006c0018 a0007c0017	a0001c0002t0001 a0001c0002t0009 a0002c0003t0002 others(5): Show a0001c0002t0001 a0001c0002t0009 a0002c0003t0002 a0002c0005t0003 a0002c0005t0013 a0002c0007t0002 a0006c0018t0001 a0007c0017t0001	a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0203 others(103): Show a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0244 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0250 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0001g0254 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0260 a0001c0002t0001g0262 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0270 a0001c0002t0001g0271 a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0001g0280 a0001c0002t0001g0281 a0001c0002t0001g0282 a0001c0002t0001g0283 a0001c0002t0001g0284 a0001c0002t0001g0286 a0001c0002t0001g0287 a0001c0002t0001g0288 a0001c0002t0001g0289 a0001c0002t0001g0290 a0001c0002t0001g0291 a0001c0002t0001g0292 a0001c0002t0001g0293 a0001c0002t0001g0294 a0001c0002t0001g0295 a0001c0002t0001g0296 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0001g0299 a0001c0002t0001g0300 a0001c0002t0001g0303 a0001c0002t0001g0304 a0001c0002t0001g0306 a0001c0002t0001g0307 a0001c0002t0001g0308 a0001c0002t0001g0311 a0001c0002t0001g0312 a0001c0002t0001g0314 a0001c0002t0001g0315 a0001c0002t0001g0316 a0001c0002t0001g0317 a0001c0002t0001g0318 a0001c0002t0001g0321 a0001c0002t0001g0322 a0001c0002t0001g0324 a0001c0002t0001g0325 a0001c0002t0001g0328 a0001c0002t0001g0329 a0001c0002t0001g0330 a0001c0002t0009g0279 a0002c0003t0002g0007 a0002c0003t0002g0191 a0002c0003t0002g0202 a0002c0003t0002g0208 a0002c0003t0002g0209 a0002c0003t0002g0210 a0002c0003t0002g0211 a0002c0003t0002g0212 a0002c0003t0002g0213 a0002c0003t0002g0214 a0002c0003t0002g0215 a0002c0003t0002g0216 a0002c0003t0002g0218 a0002c0003t0002g0219 a0002c0003t0002g0220 a0002c0003t0002g0221 a0002c0003t0002g0222 a0002c0003t0002g0231 a0002c0003t0002g0237 a0002c0005t0003g0004 a0002c0005t0003g0155 a0002c0005t0013g0154 a0002c0007t0002g0223 a0002c0007t0002g0224 a0002c0007t0002g0225 a0002c0007t0002g0226 a0002c0007t0002g0227 a0002c0007t0002g0228 a0002c0007t0002g0232 a0006c0018t0001g0309 a0007c0017t0001g0285	110	342	0.3216	8	c.223 others(25): Show c.2230+594_2230+601dupTTTTTTTT	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG4_chr16_70475571_70528554	70500365	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01891.hp1 HG02109.hp1 others(21): Show HG01243.hp2 HG01891.hp1 HG02109.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02572.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp2 HG02970.hp2 HG03041.hp1 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03486.hp1 HG03540.hp1 HG06807.hp2 NA18906.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0001 a0001c0002t0002 a0001c0003t0001	a0001c0002t0002g0001 a0001c0002t0002g0007 a0001c0002t0002g0008 others(20): Show a0001c0002t0002g0001 a0001c0002t0002g0007 a0001c0002t0002g0008 a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0011 a0001c0002t0002g0013 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0031 a0001c0003t0001g0014 a0001c0003t0001g0015 a0001c0003t0001g0016 a0001c0003t0001g0017 a0001c0003t0001g0019 a0001c0003t0001g0021 a0001c0003t0001g0022 a0001c0003t0001g0023 a0001c0003t0001g0032	24	354	0.0678	8	c.119 others(25): Show c.1195+585_1195+592dupAAAAAAAA	COG4	ENSG00000103051.21	transcript	ENST00000323786.10	protein_coding	9/18			chr16	TogoVar
COG4_chr16_70475571_70528554	70503595	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02258.hp1 HG02559.hp2 others(12): Show HG01891.hp2 HG02258.hp1 HG02559.hp2 HG02572.hp2 HG02647.hp1 HG02723.hp1 HG02809.hp2 HG02896.hp2 HG02922.hp1 HG02965.hp2 HG03130.hp2 HG03516.hp2 HG03579.hp2 HG06807.hp1 NA20300.hp2	a0001 a0006 a0001 a0006	a0001c0002 a0001c0003 a0006c0010 a0001c0002 a0001c0003 a0006c0010	a0001c0002t0001 a0001c0002t0004 a0001c0003t0001 others(3): Show a0001c0002t0001 a0001c0002t0004 a0001c0003t0001 a0001c0003t0004 a0001c0003t0005 a0006c0010t0004	a0001c0002t0001g0072 a0001c0002t0001g0125 a0001c0002t0001g0134 others(12): Show a0001c0002t0001g0072 a0001c0002t0001g0125 a0001c0002t0001g0134 a0001c0002t0004g0123 a0001c0002t0004g0124 a0001c0002t0004g0126 a0001c0002t0004g0128 a0001c0003t0001g0067 a0001c0003t0001g0131 a0001c0003t0001g0132 a0001c0003t0001g0135 a0001c0003t0001g0136 a0001c0003t0004g0127 a0001c0003t0005g0129 a0006c0010t0004g0344	15	354	0.0424	8	c.106 others(27): Show c.1062-2512_1062-2505dupAAAAAAAA	COG4	ENSG00000103051.21	transcript	ENST00000323786.10	protein_coding	8/18			chr16	TogoVar
COG6_chr13_39650662_39757628	39651677	C C	CTTTTTTT others(1): Show CTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG03490.hp1 others(4): Show HG00099.hp2 HG00323.hp1 HG03490.hp1 HG03491.hp2 HG06807.hp2 NA18942.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0015 a0001c0001t0001 a0001c0001t0004 a0001c0001t0015	a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0119 others(4): Show a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0173 a0001c0001t0004g0104 a0001c0001t0004g0124 a0001c0001t0015g0202	7	370	0.0189	8	c.-40 others(19): Show c.-4050_-4049insTTTTTTTT	COG6	ENSG00000133103.17	transcript	ENST00000455146.8	protein_coding		3984		chr13	TogoVar
COG6_chr13_39650662_39757628	39684243	A A	ATTTTTTT others(1): Show ATTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01169.hp2 HG02698.hp2 others(25): Show HG00609.hp2 HG01169.hp2 HG02698.hp2 NA18612.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18946.hp1 NA18950.hp2 NA18954.hp2 NA18959.hp2 NA18966.hp1 NA18974.hp1 NA18982.hp2 NA18989.hp1 NA18994.hp1 NA19001.hp1 NA19003.hp2 NA19011.hp2 NA19012.hp2 NA19060.hp2 NA19062.hp2 NA19066.hp1 NA19079.hp2 NA19082.hp1 NA19084.hp2 NA19086.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0002 a0002c0002t0004 a0001c0001t0004 a0002c0002t0002 a0002c0002t0004	a0001c0001t0004g0085 a0001c0001t0004g0086 a0002c0002t0002g0240 others(25): Show a0001c0001t0004g0085 a0001c0001t0004g0086 a0002c0002t0002g0240 a0002c0002t0002g0246 a0002c0002t0002g0251 a0002c0002t0002g0252 a0002c0002t0002g0261 a0002c0002t0002g0262 a0002c0002t0002g0264 a0002c0002t0002g0265 a0002c0002t0002g0266 a0002c0002t0002g0267 a0002c0002t0002g0268 a0002c0002t0002g0269 a0002c0002t0002g0270 a0002c0002t0002g0271 a0002c0002t0002g0272 a0002c0002t0002g0273 a0002c0002t0002g0274 a0002c0002t0002g0303 a0002c0002t0002g0307 a0002c0002t0002g0333 a0002c0002t0002g0339 a0002c0002t0002g0340 a0002c0002t0002g0341 a0002c0002t0002g0342 a0002c0002t0004g0263 a0002c0002t0004g0347	28	370	0.0757	8	c.788 others(25): Show c.788+1997_788+2004dupTTTTTTTT	COG6	ENSG00000133103.17	transcript	ENST00000455146.8	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG6_chr13_39650662_39757628	39706255	T T	TTATATAT others(1): Show TTATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00673.hp2 HG00738.hp1 others(58): Show HG00438.hp1 HG00673.hp2 HG00738.hp1 HG01081.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01516.hp1 HG01993.hp1 HG02040.hp2 HG02074.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02165.hp1 HG02300.hp1 HG02683.hp2 HG03041.hp2 HG03239.hp1 HG03490.hp2 HG03688.hp2 NA18939.hp2 NA18941.hp1 NA18949.hp1 NA18952.hp1 NA18954.hp1 NA18959.hp1 NA18964.hp1 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18986.hp2 NA18988.hp1 NA18990.hp1 NA18994.hp2 NA18995.hp1 NA19000.hp2 NA19003.hp1 NA19007.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19062.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19075.hp2 NA19076.hp2 NA19077.hp2 NA19081.hp2 NA19085.hp1 NA19086.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0007 a0001c0001 a0002c0002 a0002c0007	a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 a0001c0001t0013 a0002c0002t0002 a0002c0002t0004 a0002c0002t0006 a0002c0002t0009 a0002c0007t0002	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0087 others(54): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0092 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0214 a0001c0001t0004g0102 a0001c0001t0012g0183 a0001c0001t0013g0133 a0002c0002t0002g0011 a0002c0002t0002g0239 a0002c0002t0002g0240 a0002c0002t0002g0244 a0002c0002t0002g0257 a0002c0002t0002g0270 a0002c0002t0002g0275 a0002c0002t0002g0285 a0002c0002t0002g0288 a0002c0002t0002g0289 a0002c0002t0002g0293 a0002c0002t0002g0297 a0002c0002t0002g0299 a0002c0002t0002g0304 a0002c0002t0002g0336 a0002c0002t0002g0338 a0002c0002t0002g0345 a0002c0002t0002g0346 a0002c0002t0004g0347 a0002c0002t0006g0292 a0002c0002t0006g0302 a0002c0002t0006g0320 a0002c0002t0006g0326 a0002c0002t0009g0278 a0002c0007t0002g0300	61	370	0.1649	8	c.128 others(27): Show c.1284+6653_1284+6660dupATATATAT	COG6	ENSG00000133103.17	transcript	ENST00000455146.8	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL11A1_chr1_102871473_103113522	102878475	C C	CATATATA others(1): Show CATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00735.hp1 HG00738.hp1 others(14): Show HG00621.hp2 HG00735.hp1 HG00738.hp1 HG02723.hp2 HG03041.hp2 HG03139.hp2 HG03579.hp1 HG03710.hp1 HG04184.hp2 HG04228.hp1 NA18955.hp1 NA18966.hp1 NA18984.hp1 NA19057.hp2 NA19063.hp1 NA19063.hp2 NA19090.hp1	a0002 a0003 a0004 others(2): Show a0002 a0003 a0004 a0013 a0018	a0002c0001 a0003c0003 a0003c0026 others(3): Show a0002c0001 a0003c0003 a0003c0026 a0004c0013 a0013c0030 a0018c0022	a0002c0001t0002 a0003c0003t0002 a0003c0026t0002 others(3): Show a0002c0001t0002 a0003c0003t0002 a0003c0026t0002 a0004c0013t0001 a0013c0030t0002 a0018c0022t0002	a0002c0001t0002g0136 a0003c0003t0002g0086 a0003c0003t0002g0087 others(14): Show a0002c0001t0002g0136 a0003c0003t0002g0086 a0003c0003t0002g0087 a0003c0003t0002g0119 a0003c0003t0002g0123 a0003c0003t0002g0124 a0003c0003t0002g0127 a0003c0003t0002g0133 a0003c0003t0002g0135 a0003c0003t0002g0137 a0003c0003t0002g0138 a0003c0003t0002g0165 a0003c0026t0002g0049 a0004c0013t0001g0106 a0004c0013t0001g0107 a0013c0030t0002g0158 a0018c0022t0002g0007	17	184	0.0924	8	c.527 others(25): Show c.5275-318_5275-311dupATATATAT	COL11A1	ENSG00000060718.22	transcript	ENST00000370096.9	protein_coding	66/66			chr1	TogoVar
COL11A1_chr1_102871473_103113522	102889383	C C	CTGTGTGT others(1): Show CTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02896.hp1 NA18998.hp1 NA19082.hp2 HG02896.hp1 NA18998.hp1 NA19082.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0001 a0001c0006 a0002c0001	a0001c0006t0010 a0002c0001t0001 a0001c0006t0010 a0002c0001t0001	a0001c0006t0010g0180 a0002c0001t0001g0145 a0002c0001t0001g0167 a0001c0006t0010g0180 a0002c0001t0001g0145 a0002c0001t0001g0167	3	184	0.0163	8	c.446 others(23): Show c.4464+64_4464+71dupCACACACA	COL11A1	ENSG00000060718.22	transcript	ENST00000370096.9	protein_coding	59/66			chr1	TogoVar
COL11A1_chr1_102871473_103113522	102945247	A A	ACTCTCTC others(1): Show ACTCTCTCT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02559.hp1 HG03098.hp1 others(2): Show HG02486.hp1 HG02559.hp1 HG03098.hp1 HG03239.hp1 NA19057.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0002c0001 a0004c0007 a0001c0002 a0002c0001 a0004c0007	a0001c0002t0003 a0002c0001t0001 a0004c0007t0001 a0001c0002t0003 a0002c0001t0001 a0004c0007t0001	a0001c0002t0003g0019 a0001c0002t0003g0037 a0001c0002t0003g0066 others(2): Show a0001c0002t0003g0019 a0001c0002t0003g0037 a0001c0002t0003g0066 a0002c0001t0001g0116 a0004c0007t0001g0093	5	184	0.0272	8	c.327 others(27): Show c.3276+1594_3276+1601dupAGAGAGAG	COL11A1	ENSG00000060718.22	transcript	ENST00000370096.9	protein_coding	42/66			chr1	TogoVar
COL11A1_chr1_102871473_103113522	102966708	C C	CATACACA others(1): Show CATACACAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(164): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18966.hp1 NA18966.hp2 NA18977.hp1 NA18977.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18998.hp1 NA18998.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19063.hp1 NA19063.hp2 NA19075.hp1 NA19075.hp2 NA19082.hp1 NA19082.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(16): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019	a0001c0002 a0001c0004 a0001c0005 others(36): Show a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0009 a0001c0016 a0001c0019 a0001c0031 a0002c0001 a0002c0024 a0002c0033 a0002c0034 a0003c0003 a0003c0011 a0003c0023 a0003c0026 a0003c0032 a0004c0007 a0004c0012 a0004c0013 a0004c0014 a0004c0021 a0005c0010 a0006c0017 a0006c0039 a0007c0015 a0008c0018 a0009c0029 a0010c0028 a0011c0037 a0012c0035 a0013c0030 a0014c0036 a0015c0025 a0016c0027 a0017c0038 a0018c0022 a0019c0020	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(50): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0008 a0001c0002t0011 a0001c0004t0004 a0001c0004t0005 a0001c0005t0004 a0001c0005t0005 a0001c0005t0012 a0001c0006t0001 a0001c0006t0003 a0001c0006t0010 a0001c0008t0006 a0001c0009t0001 a0001c0009t0007 a0001c0016t0001 a0001c0016t0004 a0001c0019t0003 a0001c0031t0001 a0002c0001t0001 a0002c0001t0002 a0002c0001t0009 a0002c0024t0002 a0002c0033t0013 a0002c0034t0001 a0003c0003t0002 a0003c0011t0001 a0003c0023t0002 a0003c0026t0002 a0003c0032t0002 a0004c0007t0001 a0004c0012t0003 a0004c0013t0001 a0004c0014t0001 a0004c0014t0003 a0004c0021t0008 a0005c0010t0001 a0006c0017t0001 a0006c0039t0003 a0007c0015t0005 a0008c0018t0001 a0009c0029t0004 a0010c0028t0006 a0011c0037t0001 a0012c0035t0001 a0013c0030t0002 a0014c0036t0001 a0015c0025t0005 a0016c0027t0005 a0017c0038t0002 a0018c0022t0002 a0019c0020t0001	a0001c0002t0001g0069 a0001c0002t0001g0095 a0001c0002t0002g0155 others(164): Show a0001c0002t0001g0069 a0001c0002t0001g0095 a0001c0002t0002g0155 a0001c0002t0003g0019 a0001c0002t0003g0020 a0001c0002t0003g0021 a0001c0002t0003g0022 a0001c0002t0003g0037 a0001c0002t0003g0038 a0001c0002t0003g0048 a0001c0002t0003g0062 a0001c0002t0003g0063 a0001c0002t0003g0064 a0001c0002t0003g0065 a0001c0002t0003g0066 a0001c0002t0003g0067 a0001c0002t0003g0068 a0001c0002t0003g0104 a0001c0002t0008g0027 a0001c0002t0011g0091 a0001c0004t0004g0018 a0001c0004t0004g0040 a0001c0004t0004g0042 a0001c0004t0005g0041 a0001c0005t0004g0015 a0001c0005t0005g0061 a0001c0005t0005g0070 a0001c0005t0005g0071 a0001c0005t0005g0072 a0001c0005t0005g0074 a0001c0005t0005g0078 a0001c0005t0005g0080 a0001c0005t0012g0077 a0001c0006t0001g0017 a0001c0006t0001g0034 a0001c0006t0001g0035 a0001c0006t0001g0036 a0001c0006t0001g0045 a0001c0006t0001g0046 a0001c0006t0001g0159 a0001c0006t0003g0039 a0001c0006t0010g0180 a0001c0008t0006g0002 a0001c0008t0006g0003 a0001c0008t0006g0004 a0001c0008t0006g0005 a0001c0008t0006g0006 a0001c0009t0001g0008 a0001c0009t0007g0055 a0001c0009t0007g0056 a0001c0009t0007g0057 a0001c0016t0001g0050 a0001c0016t0001g0102 a0001c0016t0004g0058 a0001c0019t0003g0051 a0001c0019t0003g0054 a0001c0031t0001g0172 a0002c0001t0001g0100 a0002c0001t0001g0110 a0002c0001t0001g0116 a0002c0001t0001g0117 a0002c0001t0001g0121 a0002c0001t0001g0122 a0002c0001t0001g0125 a0002c0001t0001g0126 a0002c0001t0001g0128 a0002c0001t0001g0129 a0002c0001t0001g0130 a0002c0001t0001g0131 a0002c0001t0001g0132 a0002c0001t0001g0134 a0002c0001t0001g0139 a0002c0001t0001g0140 a0002c0001t0001g0142 a0002c0001t0001g0143 a0002c0001t0001g0144 a0002c0001t0001g0145 a0002c0001t0001g0147 a0002c0001t0001g0148 a0002c0001t0001g0149 a0002c0001t0001g0150 a0002c0001t0001g0151 a0002c0001t0001g0152 a0002c0001t0001g0153 a0002c0001t0001g0154 a0002c0001t0001g0156 a0002c0001t0001g0162 a0002c0001t0001g0163 a0002c0001t0001g0164 a0002c0001t0001g0167 a0002c0001t0001g0168 a0002c0001t0001g0169 a0002c0001t0001g0181 a0002c0001t0002g0097 a0002c0001t0002g0098 a0002c0001t0002g0099 a0002c0001t0002g0101 a0002c0001t0002g0109 a0002c0001t0002g0136 a0002c0001t0002g0183 a0002c0001t0002g0184 a0002c0001t0009g0146 a0002c0024t0002g0075 a0002c0033t0013g0111 a0002c0034t0001g0182 a0003c0003t0002g0030 a0003c0003t0002g0086 a0003c0003t0002g0087 a0003c0003t0002g0119 a0003c0003t0002g0120 a0003c0003t0002g0123 a0003c0003t0002g0124 a0003c0003t0002g0127 a0003c0003t0002g0133 a0003c0003t0002g0135 a0003c0003t0002g0137 a0003c0003t0002g0138 a0003c0003t0002g0141 a0003c0003t0002g0157 a0003c0003t0002g0165 a0003c0011t0001g0044 a0003c0011t0001g0060 a0003c0011t0001g0105 a0003c0011t0001g0161 a0003c0023t0002g0079 a0003c0026t0002g0049 a0003c0032t0002g0160 a0004c0007t0001g0089 a0004c0007t0001g0090 a0004c0007t0001g0092 a0004c0007t0001g0093 a0004c0007t0001g0094 a0004c0007t0001g0115 a0004c0012t0003g0010 a0004c0012t0003g0011 a0004c0012t0003g0012 a0004c0013t0001g0096 a0004c0013t0001g0106 a0004c0013t0001g0107 a0004c0014t0001g0013 a0004c0014t0001g0047 a0004c0014t0003g0059 a0004c0021t0008g0081 a0005c0010t0001g0028 a0005c0010t0001g0029 a0005c0010t0001g0052 a0005c0010t0001g0053 a0006c0017t0001g0024 a0006c0017t0001g0025 a0006c0017t0001g0026 a0006c0039t0003g0083 a0007c0015t0005g0112 a0007c0015t0005g0113 a0007c0015t0005g0114 a0008c0018t0001g0023 a0008c0018t0001g0082 a0009c0029t0004g0043 a0010c0028t0006g0001 a0011c0037t0001g0103 a0012c0035t0001g0166 a0013c0030t0002g0158 a0014c0036t0001g0118 a0015c0025t0005g0073 a0016c0027t0005g0076 a0017c0038t0002g0108 a0018c0022t0002g0007 a0019c0020t0001g0178	167	184	0.9076	8	c.286 others(27): Show c.2863-1169_2863-1168insCTGTGTAT	COL11A1	ENSG00000060718.22	transcript	ENST00000370096.9	protein_coding	37/66			chr1	TogoVar
COL11A1_chr1_102871473_103113522	102967227	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02004.hp2 HG02486.hp1 others(11): Show HG01099.hp2 HG02004.hp2 HG02486.hp1 HG02572.hp2 HG02809.hp1 HG02922.hp2 HG03139.hp1 HG03139.hp2 HG03927.hp1 NA18955.hp1 NA18984.hp2 NA18998.hp1 NA19057.hp1 NA19057.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0002 a0002c0001 a0003c0003 others(1): Show a0001c0002 a0002c0001 a0003c0003 a0004c0007	a0001c0002t0002 a0001c0002t0003 a0002c0001t0001 others(2): Show a0001c0002t0002 a0001c0002t0003 a0002c0001t0001 a0003c0003t0002 a0004c0007t0001	a0001c0002t0002g0155 a0001c0002t0003g0037 a0001c0002t0003g0038 others(11): Show a0001c0002t0002g0155 a0001c0002t0003g0037 a0001c0002t0003g0038 a0001c0002t0003g0062 a0001c0002t0003g0064 a0002c0001t0001g0121 a0002c0001t0001g0132 a0002c0001t0001g0145 a0002c0001t0001g0150 a0002c0001t0001g0151 a0003c0003t0002g0087 a0003c0003t0002g0137 a0003c0003t0002g0165 a0004c0007t0001g0093	14	184	0.0761	8	c.286 others(27): Show c.2863-1695_2863-1688dupAAAAAAAA	COL11A1	ENSG00000060718.22	transcript	ENST00000370096.9	protein_coding	37/66			chr1	TogoVar
COL11A1_chr1_102871473_103113522	102974179	A A	AAAACAAA others(1): Show AAAACAAAC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02970.hp1 HG02976.hp2 others(3): Show HG02647.hp1 HG02970.hp1 HG02976.hp2 HG03130.hp1 NA19043.hp2 NA20129.hp2	a0001 a0004 a0009 a0001 a0004 a0009	a0001c0004 a0001c0016 a0004c0014 others(1): Show a0001c0004 a0001c0016 a0004c0014 a0009c0029	a0001c0004t0004 a0001c0004t0005 a0001c0016t0004 others(2): Show a0001c0004t0004 a0001c0004t0005 a0001c0016t0004 a0004c0014t0001 a0009c0029t0004	a0001c0004t0004g0040 a0001c0004t0004g0042 a0001c0004t0005g0041 others(3): Show a0001c0004t0004g0040 a0001c0004t0004g0042 a0001c0004t0005g0041 a0001c0016t0004g0058 a0004c0014t0001g0013 a0009c0029t0004g0043	6	184	0.0326	8	c.280 others(25): Show c.2808+643_2808+650dupGTTTGTTT	COL11A1	ENSG00000060718.22	transcript	ENST00000370096.9	protein_coding	36/66			chr1	TogoVar
COL11A1_chr1_102871473_103113522	103006178	A A	AAAATAAA others(1): Show AAAATAAAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01099.hp2 HG01884.hp1 others(23): Show HG00738.hp1 HG01099.hp2 HG01884.hp1 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02280.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp2 HG02683.hp2 HG02723.hp2 HG02895.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03540.hp1 HG03710.hp1 HG04184.hp2 HG04228.hp1 NA18977.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0013	a0001c0002 a0001c0004 a0001c0005 others(5): Show a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0019 a0002c0001 a0003c0003 a0013c0030	a0001c0002t0002 a0001c0002t0003 a0001c0004t0004 others(7): Show a0001c0002t0002 a0001c0002t0003 a0001c0004t0004 a0001c0005t0005 a0001c0006t0001 a0001c0006t0003 a0001c0019t0003 a0002c0001t0001 a0003c0003t0002 a0013c0030t0002	a0001c0002t0002g0155 a0001c0002t0003g0019 a0001c0002t0003g0021 others(23): Show a0001c0002t0002g0155 a0001c0002t0003g0019 a0001c0002t0003g0021 a0001c0002t0003g0022 a0001c0002t0003g0037 a0001c0002t0003g0038 a0001c0002t0003g0062 a0001c0002t0003g0063 a0001c0002t0003g0064 a0001c0002t0003g0065 a0001c0002t0003g0066 a0001c0002t0003g0067 a0001c0002t0003g0104 a0001c0004t0004g0040 a0001c0005t0005g0078 a0001c0006t0001g0045 a0001c0006t0003g0039 a0001c0019t0003g0051 a0001c0019t0003g0054 a0002c0001t0001g0144 a0003c0003t0002g0086 a0003c0003t0002g0087 a0003c0003t0002g0127 a0003c0003t0002g0133 a0003c0003t0002g0135 a0013c0030t0002g0158	26	184	0.1413	8	c.173 others(23): Show c.1738-65_1738-58dupATTTATTT	COL11A1	ENSG00000060718.22	transcript	ENST00000370096.9	protein_coding	16/66			chr1	TogoVar
COL11A1_chr1_102871473_103113522	103023370	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00621.hp1 HG00735.hp2 others(12): Show HG00408.hp2 HG00621.hp1 HG00735.hp2 HG02027.hp1 HG03704.hp2 HG03927.hp2 NA18942.hp2 NA18952.hp1 NA18955.hp2 NA18966.hp2 NA18977.hp1 NA18985.hp1 NA18998.hp2 NA19075.hp2 NA20805.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0007 a0015 a0016	a0001c0005 a0002c0024 a0003c0023 others(3): Show a0001c0005 a0002c0024 a0003c0023 a0007c0015 a0015c0025 a0016c0027	a0001c0005t0005 a0001c0005t0012 a0002c0024t0002 others(4): Show a0001c0005t0005 a0001c0005t0012 a0002c0024t0002 a0003c0023t0002 a0007c0015t0005 a0015c0025t0005 a0016c0027t0005	a0001c0005t0005g0061 a0001c0005t0005g0070 a0001c0005t0005g0071 others(12): Show a0001c0005t0005g0061 a0001c0005t0005g0070 a0001c0005t0005g0071 a0001c0005t0005g0072 a0001c0005t0005g0074 a0001c0005t0005g0078 a0001c0005t0005g0080 a0001c0005t0012g0077 a0002c0024t0002g0075 a0003c0023t0002g0079 a0007c0015t0005g0112 a0007c0015t0005g0113 a0007c0015t0005g0114 a0015c0025t0005g0073 a0016c0027t0005g0076	15	184	0.0815	8	c.991 others(23): Show c.991-382_991-375dupAAAAAAAA	COL11A1	ENSG00000060718.22	transcript	ENST00000370096.9	protein_coding	7/66			chr1	TogoVar
COL11A1_chr1_102871473_103113522	103027396	A A	AATATATA others(1): Show AATATATAT	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG02486.hp1 HG03195.hp2 others(1): Show HG01517.hp2 HG02486.hp1 HG03195.hp2 NA18984.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0002c0001 a0001c0002 a0001c0004 a0002c0001	a0001c0002t0003 a0001c0002t0011 a0001c0004t0004 others(1): Show a0001c0002t0003 a0001c0002t0011 a0001c0004t0004 a0002c0001t0001	a0001c0002t0003g0037 a0001c0002t0011g0091 a0001c0004t0004g0175 others(1): Show a0001c0002t0003g0037 a0001c0002t0011g0091 a0001c0004t0004g0175 a0002c0001t0001g0150	4	184	0.0217	8	c.781 others(25): Show c.781-1072_781-1065dupATATATAT	COL11A1	ENSG00000060718.22	transcript	ENST00000370096.9	protein_coding	5/66			chr1	TogoVar
COL11A1_chr1_102871473_103113522	103036322	G G	GTATATAT others(1): Show GTATATATA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02976.hp2 NA19043.hp2 HG02970.hp1 HG02976.hp2 NA19043.hp2	a0001 a0009 a0001 a0009	a0001c0004 a0009c0029 a0001c0004 a0009c0029	a0001c0004t0004 a0009c0029t0004 a0001c0004t0004 a0009c0029t0004	a0001c0004t0004g0040 a0001c0004t0004g0042 a0009c0029t0004g0043 a0001c0004t0004g0040 a0001c0004t0004g0042 a0009c0029t0004g0043	3	184	0.0163	8	c.652 others(25): Show c.652-5086_652-5079dupTATATATA	COL11A1	ENSG00000060718.22	transcript	ENST00000370096.9	protein_coding	4/66			chr1	TogoVar
COL11A1_chr1_102871473_103113522	103037140	T T	TTATATAT others(1): Show TTATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02622.hp2 HG02717.hp2 others(4): Show HG01109.hp1 HG02622.hp2 HG02717.hp2 HG02818.hp2 HG02895.hp2 HG02897.hp2 HG03098.hp2	a0001 a0005 a0001 a0005	a0001c0008 a0005c0010 a0001c0008 a0005c0010	a0001c0008t0006 a0005c0010t0001 a0001c0008t0006 a0005c0010t0001	a0001c0008t0006g0003 a0001c0008t0006g0004 a0001c0008t0006g0006 others(4): Show a0001c0008t0006g0003 a0001c0008t0006g0004 a0001c0008t0006g0006 a0005c0010t0001g0028 a0005c0010t0001g0029 a0005c0010t0001g0052 a0005c0010t0001g0053	7	184	0.0380	8	c.652 others(25): Show c.652-5897_652-5896insTATATATA	COL11A1	ENSG00000060718.22	transcript	ENST00000370096.9	protein_coding	4/66			chr1	TogoVar
COL11A1_chr1_102871473_103113522	103037252	T T	TTGTGTGT others(1): Show TTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02280.hp2 HG03195.hp1 others(1): Show HG02258.hp2 HG02280.hp2 HG03195.hp1 HG03516.hp1	a0004 a0006 a0004 a0006	a0004c0014 a0006c0017 a0006c0039 a0004c0014 a0006c0017 a0006c0039	a0004c0014t0001 a0006c0017t0001 a0006c0039t0003 a0004c0014t0001 a0006c0017t0001 a0006c0039t0003	a0004c0014t0001g0047 a0006c0017t0001g0025 a0006c0017t0001g0026 others(1): Show a0004c0014t0001g0047 a0006c0017t0001g0025 a0006c0017t0001g0026 a0006c0039t0003g0083	4	184	0.0217	8	c.652 others(25): Show c.652-6016_652-6009dupCACACACA	COL11A1	ENSG00000060718.22	transcript	ENST00000370096.9	protein_coding	4/66			chr1	TogoVar
COL11A1_chr1_102871473_103113522	103065750	A A	AGAGTGAA others(1): Show AGAGTGAAG	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01109.hp1 HG01243.hp1 others(12): Show HG01071.hp1 HG01109.hp1 HG01243.hp1 HG01433.hp2 HG01943.hp1 HG01952.hp1 HG02004.hp1 HG02559.hp2 HG02622.hp2 HG02818.hp2 HG03098.hp2 HG03834.hp1 HG04184.hp1 HG04228.hp2 homoSapiens_chm13v2.hp1	a0002 a0005 a0017 a0002 a0005 a0017	a0002c0001 a0002c0033 a0005c0010 others(1): Show a0002c0001 a0002c0033 a0005c0010 a0017c0038	a0002c0001t0001 a0002c0001t0002 a0002c0033t0013 others(2): Show a0002c0001t0001 a0002c0001t0002 a0002c0033t0013 a0005c0010t0001 a0017c0038t0002	a0002c0001t0001g0100 a0002c0001t0001g0110 a0002c0001t0002g0097 others(12): Show a0002c0001t0001g0100 a0002c0001t0001g0110 a0002c0001t0002g0097 a0002c0001t0002g0098 a0002c0001t0002g0099 a0002c0001t0002g0101 a0002c0001t0002g0109 a0002c0001t0002g0183 a0002c0001t0002g0184 a0002c0033t0013g0111 a0005c0010t0001g0028 a0005c0010t0001g0029 a0005c0010t0001g0052 a0005c0010t0001g0053 a0017c0038t0002g0108	15	184	0.0815	8	c.651 others(25): Show c.651+8860_651+8867dupCTTCACTC	COL11A1	ENSG00000060718.22	transcript	ENST00000370096.9	protein_coding	4/66			chr1	TogoVar

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