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
CNTNAP5_chr2_124020287_124926219	124567862	T T	TAGATAGA others(15): Show TAGATAGATAGATAGATAGATAG	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	64	0.0156	22	c.175 others(41): Show c.1756+4560_1756+4561insGAGATAGATAGATAGATAGATA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	11/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124636895	T T	TCTCTGTC others(15): Show TCTCTGTCTCTTTTTCTCCTCTC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG01069.hp2 others(11): Show HG00423.hp1 HG00423.hp2 HG01069.hp2 HG01070.hp1 HG02451.hp1 HG03098.hp1 HG03225.hp2 HG03453.hp2 HG03704.hp1 NA19000.hp2 NA19043.hp2 NA19240.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0002c0004 others(1): Show a0001c0001 a0001c0002 a0002c0004 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 a0001c0002t0001 a0001c0002t0004 a0001c0002t0016 a0002c0004t0001 a0004c0006t0001	a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0043 others(11): Show a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0043 a0001c0001t0002g0019 a0001c0001t0002g0042 a0001c0001t0002g0048 a0001c0001t0003g0057 a0001c0001t0015g0036 a0001c0002t0001g0046 a0001c0002t0004g0044 a0001c0002t0004g0047 a0001c0002t0016g0055 a0002c0004t0001g0001 a0004c0006t0001g0013	14	64	0.2188	22	c.187 others(43): Show c.1877-10859_1877-10858insGTCTCTTTTTCTCCTCTCCTCT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124655923	A A	AAAAGAGA others(15): Show AAAAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0021 a0001c0001t0018g0021	1	64	0.0156	22	c.207 others(41): Show c.2077+7966_2077+7967insAAGAGAGAGAGAGAGAGAGAGA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124655941	G G	GAAAGAAA others(15): Show GAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0040 a0001c0001t0005g0040	1	64	0.0156	22	c.207 others(41): Show c.2077+7984_2077+7985insAAGAAAGAAAGAAAGAAAGAAA	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
COA1_chr7_43634257_43734523	43644799	C C	CAGAGAGA others(15): Show CAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	384	0.0026	22	c.264 others(37): Show c.264+430_264+451dupCTCTCTCTCTCTCTCTCTCTCT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	4/5			chr7	TogoVar
COA1_chr7_43634257_43734523	43664103	A A	AAGAGAGA others(15): Show AAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01257.hp2 HG01258.hp2 others(18): Show HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01928.hp1 HG02630.hp2 HG02723.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp1 HG02922.hp2 HG03492.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03942.hp2 NA18939.hp1 NA18939.hp2 NA18986.hp1 NA18998.hp1 NA19030.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0031 a0001c0001t0001g0047 others(17): Show a0001c0001t0001g0001 a0001c0001t0001g0031 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0072 a0001c0001t0001g0081 a0001c0001t0001g0091 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0145 a0001c0001t0001g0235 a0001c0001t0001g0243	21	384	0.0547	22	c.-38 others(41): Show c.-38-15473_-38-15452dupCTCTCTCTCTCTCTCTCTCTCT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COA1_chr7_43634257_43734523	43710375	A A	AAAATATA others(15): Show AAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0364 a0001c0001t0001g0364	1	384	0.0026	22	c.-39 others(41): Show c.-39+19053_-39+19054insATATATATATATATATATATTT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COA6_chr1_234368456_234390080	234370410	A A	ACCTTTTT others(15): Show ACCTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG02145.hp1 HG02976.hp1 others(1): Show HG00741.hp1 HG02145.hp1 HG02976.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	4	406	0.0099	22	c.-30 others(33): Show c.-3057_-3056insCCTTTTTTTTTTTTTTTTTTTT	COA6	ENSG00000168275.16	transcript	ENST00000366615.10	protein_coding		3045		chr1	TogoVar
COA6_chr1_234368456_234390080	234370412	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	406	0.0025	22	c.-30 others(33): Show c.-3055_-3054insTTTTTTTTTTTTTTTTTTTTTT	COA6	ENSG00000168275.16	transcript	ENST00000366615.10	protein_coding		3043		chr1	TogoVar
COA6_chr1_234368456_234390080	234383032	A A	AGAAGGAA others(15): Show AGAAGGAAGGAAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	406	0.0025	22	c.373 others(37): Show c.373-691_373-690insGAAGGAAGGAAGGGAGGGAGGG	COA6	ENSG00000168275.16	transcript	ENST00000366615.10	protein_coding	2/2			chr1	TogoVar
COA6_chr1_234368456_234390080	234383064	G G	GAGGGAGG others(15): Show GAGGGAGGGAGGGAAGGAAGGGA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01361.hp1 HG01433.hp1 HG01258.hp1 HG01361.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0115 a0001c0001t0001g0036 a0001c0001t0001g0115	3	406	0.0074	22	c.373 others(37): Show c.373-654_373-653insGGGAGGGAAGGAAGGGAAGGGA	COA6	ENSG00000168275.16	transcript	ENST00000366615.10	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
COBLL1_chr2_164675188_164846823	164725101	G G	GATATATA others(15): Show GATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0188 a0001c0001t0027g0188	1	212	0.0047	22	c.662 others(39): Show c.662-2601_662-2580dupATATATATATATATATATATAT	COBLL1	ENSG00000082438.18	transcript	ENST00000652658.2	protein_coding	5/13			chr2	TogoVar
COBL_chr7_51011212_51321809	51061950	T T	TACACACA others(15): Show TACACACACACACACACATACAC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0010 a0001c0004t0001g0010	1	230	0.0044	22	c.109 others(43): Show c.1097-18259_1097-18258insGTGTATGTGTGTGTGTGTGTGT	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	7/12			chr7	TogoVar
COBL_chr7_51011212_51321809	51070392	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02155.hp2 NA18747.hp1 others(6): Show HG01169.hp1 HG02155.hp2 NA18747.hp1 NA18960.hp2 NA18963.hp1 NA19002.hp2 NA19066.hp2 NA19086.hp1 NA20905.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0008 a0009 a0021	a0001c0002 a0002c0003 a0003c0001 others(6): Show a0001c0002 a0002c0003 a0003c0001 a0005c0005 a0005c0006 a0008c0013 a0008c0058 a0009c0012 a0021c0048	a0001c0002t0002 a0002c0003t0003 a0003c0001t0002 others(6): Show a0001c0002t0002 a0002c0003t0003 a0003c0001t0002 a0005c0005t0003 a0005c0006t0003 a0008c0013t0003 a0008c0058t0003 a0009c0012t0001 a0021c0048t0001	a0001c0002t0002g0122 a0002c0003t0003g0094 a0003c0001t0002g0070 others(6): Show a0001c0002t0002g0122 a0002c0003t0003g0094 a0003c0001t0002g0070 a0005c0005t0003g0117 a0005c0006t0003g0121 a0008c0013t0003g0200 a0008c0058t0003g0021 a0009c0012t0001g0206 a0021c0048t0001g0086	9	230	0.0391	22	c.109 others(43): Show c.1096+14752_1096+14773dupGTGTGTGTGTGTGTGTGTGTGT	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	7/12			chr7	TogoVar
COBL_chr7_51011212_51321809	51098224	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0009 a0003c0001t0001g0009	1	230	0.0044	22	c.958 others(41): Show c.958-12921_958-12920insAAAAAAAAAAAAAAAAAAAAAA	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	6/12			chr7	TogoVar
COCH_chr14_30869559_30895618	30882120	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTGTTTTGTTT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03041.hp2 HG03130.hp1 others(1): Show HG02922.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0135 others(1): Show a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0135 a0001c0001t0001g0269	4	478	0.0084	22	c.629 others(39): Show c.629+1399_629+1400insGTTTTGTTTTTTTTTTTTTTTT	COCH	ENSG00000100473.18	transcript	ENST00000396618.9	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
COCH_chr14_30869559_30895618	30895053	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0237 a0001c0001t0002g0237	1	478	0.0021	22	c.52 others(33): Show c.5262_*5263insAAAAAAAAAAAAAAAAAAAAAA	COCH	ENSG00000100473.18	transcript	ENST00000396618.9	protein_coding		4436		chr14	TogoVar
COG1_chr17_73188055_73213507	73190196	A A	AACACACA others(15): Show AACACACACAAACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG02897.hp1 HG00738.hp2 HG02897.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0104 a0002c0001t0001g0108 a0002c0001t0001g0104 a0002c0001t0001g0108	2	428	0.0047	22	c.-28 others(33): Show c.-2874_-2873insACACACACAAACACACACACAC	COG1	ENSG00000166685.13	transcript	ENST00000299886.9	protein_coding		2858		chr17	TogoVar
COG1_chr17_73188055_73213507	73192846	C C	CCCCTCGC others(15): Show CCCCTCGCGCCCGCCCCCTCGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0065 a0002c0001t0001g0065	1	428	0.0023	22	c.-22 others(31): Show c.-224_-223insCCCTCGCGCCCGCCCCCTCGCG	COG1	ENSG00000166685.13	transcript	ENST00000299886.9	protein_coding		208		chr17	TogoVar
COG2_chr1_230637481_230698982	230680377	G G	GACCCTGG others(15): Show GACCCTGGGACCCATGCAGCATC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00323.hp2 others(46): Show HG00099.hp2 HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00438.hp2 HG00544.hp2 HG00609.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01256.hp2 HG01361.hp1 HG01516.hp2 HG01517.hp2 HG02523.hp2 HG02559.hp2 HG02615.hp1 HG02735.hp2 HG02896.hp1 HG02965.hp2 HG02970.hp2 HG03139.hp2 HG03239.hp1 HG03654.hp2 HG03704.hp1 HG03942.hp2 HG04199.hp1 NA18906.hp1 NA18942.hp2 NA18944.hp2 NA18957.hp2 NA18960.hp1 NA18972.hp2 NA18975.hp2 NA18981.hp2 NA18989.hp2 NA19004.hp2 NA19056.hp1 NA19064.hp1 NA19068.hp1 NA19076.hp1 NA19079.hp2 NA19081.hp1 NA19090.hp1 NA20752.hp2 NA20805.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0002c0003 a0003c0004 others(2): Show a0001c0001 a0002c0003 a0003c0004 a0003c0015 a0006c0026	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0002c0003t0001 a0003c0004t0001 a0003c0015t0001 a0006c0026t0001	a0001c0001t0001g0009 a0001c0001t0001g0024 a0001c0001t0001g0025 others(34): Show a0001c0001t0001g0009 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0063 a0001c0001t0001g0222 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0295 a0001c0001t0001g0304 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0250 a0001c0001t0008g0221 a0002c0003t0001g0095 a0002c0003t0001g0105 a0003c0004t0001g0051 a0003c0004t0001g0178 a0003c0004t0001g0257 a0003c0004t0001g0259 a0003c0004t0001g0260 a0003c0004t0001g0261 a0003c0004t0001g0262 a0003c0004t0001g0263 a0003c0004t0001g0270 a0003c0004t0001g0271 a0003c0004t0001g0272 a0003c0004t0001g0273 a0003c0004t0001g0275 a0003c0004t0001g0276 a0003c0015t0001g0258 a0006c0026t0001g0297	49	406	0.1207	22	c.116 others(41): Show c.1166+1329_1166+1350dupCTGGGACCCATGCAGCATCACC	COG2	ENSG00000135775.14	transcript	ENST00000366669.9	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
COG2_chr1_230637481_230698982	230680391	T T	TGCAGCAT others(15): Show TGCAGCATCACCCTGGGACCCAA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01192.hp2 HG01257.hp1 others(3): Show HG01168.hp2 HG01192.hp2 HG01257.hp1 HG01516.hp1 HG03017.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0171 a0001c0001t0001g0232 a0001c0001t0002g0043 others(2): Show a0001c0001t0001g0171 a0001c0001t0001g0232 a0001c0001t0002g0043 a0001c0001t0002g0136 a0001c0001t0002g0216	6	406	0.0148	22	c.116 others(41): Show c.1166+1350_1166+1351insCTGGGACCCAAGCAGCATCACC	COG2	ENSG00000135775.14	transcript	ENST00000366669.9	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
COG3_chr13_45459939_45541701	45513295	A A	ATATATAA others(15): Show ATATATAATATATACATATAAAT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0010 a0002c0005t0003g0010	1	342	0.0029	22	c.180 others(41): Show c.1809+1443_1809+1444insTATAATATATACATATAAATTA	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45513298	C C	CATATAAT others(15): Show CATATAATATATACATATAAATT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0012 a0002c0005t0012	a0002c0005t0012g0148 a0002c0005t0012g0148	1	342	0.0029	22	c.180 others(41): Show c.1809+1448_1809+1469dupTAATATATACATATAAATTATA	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG6_chr13_39650662_39757628	39651677	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0003 a0005c0005t0003	a0005c0005t0003g0016 a0005c0005t0003g0016	1	370	0.0027	22	c.-40 others(33): Show c.-4050_-4049insTTTTTTTTTTTTTTTTTTTTTT	COG6	ENSG00000133103.17	transcript	ENST00000455146.8	protein_coding		3984		chr13	TogoVar
COG6_chr13_39650662_39757628	39684243	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01517.hp1 HG01099.hp2 HG01517.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0322 a0002c0002t0002g0323 a0002c0002t0002g0322 a0002c0002t0002g0323	2	370	0.0054	22	c.788 others(39): Show c.788+1983_788+2004dupTTTTTTTTTTTTTTTTTTTTTT	COG6	ENSG00000133103.17	transcript	ENST00000455146.8	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG6_chr13_39650662_39757628	39706261	A A	ATATATAT others(15): Show ATATATATATATATATACTCCTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03579.hp1 HG03471.hp1 HG03579.hp1	a0002 a0007 a0002 a0007	a0002c0002 a0007c0009 a0002c0002 a0007c0009	a0002c0002t0010 a0007c0009t0010 a0002c0002t0010 a0007c0009t0010	a0002c0002t0010g0223 a0007c0009t0010g0222 a0002c0002t0010g0223 a0007c0009t0010g0222	2	370	0.0054	22	c.128 others(41): Show c.1284+6659_1284+6660insCTCCTTTATATATATATATATA	COG6	ENSG00000133103.17	transcript	ENST00000455146.8	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG7_chr16_23383493_23458189	23408305	G G	GGGGGCGA others(15): Show GGGGGCGAGTGGGGCGGGAGGTA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0137 a0001c0003t0003g0137	1	272	0.0037	22	c.147 others(41): Show c.1475+1968_1475+1989dupTACCTCCCGCCCCACTCGCCCC	COG7	ENSG00000168434.13	transcript	ENST00000307149.10	protein_coding	11/16			chr16	TogoVar
COG7_chr16_23383493_23458189	23409088	T T	TGTGTGTG others(15): Show TGTGTGTGTGTGTGTGTGCGCGC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG03098.hp2 HG03209.hp2 others(3): Show HG00639.hp2 HG03098.hp2 HG03209.hp2 HG03471.hp2 HG03579.hp1 HG04184.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0100 a0002c0002t0003g0101 a0002c0002t0003g0102 others(3): Show a0002c0002t0003g0100 a0002c0002t0003g0101 a0002c0002t0003g0102 a0002c0002t0003g0103 a0002c0002t0003g0104 a0002c0002t0003g0126	6	272	0.0221	22	c.147 others(41): Show c.1475+1206_1475+1207insGCGCGCACACACACACACACAC	COG7	ENSG00000168434.13	transcript	ENST00000307149.10	protein_coding	11/16			chr16	TogoVar
COG7_chr16_23383493_23458189	23409088	T T	TGTGTGTG others(15): Show TGTGTGTGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0055	1	272	0.0037	22	c.147 others(41): Show c.1475+1206_1475+1207insGCGCACACACACACACACACAC	COG7	ENSG00000168434.13	transcript	ENST00000307149.10	protein_coding	11/16			chr16	TogoVar
COL11A1_chr1_102871473_103113522	102878475	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG03041.hp1 HG03704.hp1 others(2): Show HG01099.hp1 HG03041.hp1 HG03704.hp1 HG03927.hp1 NA20752.hp1	a0002 a0003 a0004 others(1): Show a0002 a0003 a0004 a0011	a0002c0001 a0003c0011 a0004c0007 others(1): Show a0002c0001 a0003c0011 a0004c0007 a0011c0037	a0002c0001t0001 a0003c0011t0001 a0004c0007t0001 others(1): Show a0002c0001t0001 a0003c0011t0001 a0004c0007t0001 a0011c0037t0001	a0002c0001t0001g0132 a0002c0001t0001g0147 a0003c0011t0001g0044 others(2): Show a0002c0001t0001g0132 a0002c0001t0001g0147 a0003c0011t0001g0044 a0004c0007t0001g0090 a0011c0037t0001g0103	5	184	0.0272	22	c.527 others(39): Show c.5275-332_5275-311dupATATATATATATATATATATAT	COL11A1	ENSG00000060718.22	transcript	ENST00000370096.9	protein_coding	66/66			chr1	TogoVar
COL12A1_chr6_75079326_75211053	75092583	T T	TCAGGTAA others(15): Show TCAGGTAATGTCCCATACCAAAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00673.hp2 HG00741.hp1 others(49): Show HG00408.hp1 HG00673.hp2 HG00741.hp1 HG01109.hp1 HG01261.hp2 HG01496.hp2 HG02056.hp1 HG02074.hp1 HG02080.hp1 HG02109.hp1 HG02145.hp1 HG02559.hp1 HG02559.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG03098.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03516.hp1 HG03579.hp1 HG04115.hp2 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18945.hp1 NA18962.hp1 NA18966.hp1 NA18968.hp1 NA18979.hp1 NA18979.hp2 NA18982.hp2 NA18984.hp2 NA18985.hp1 NA18995.hp1 NA18999.hp1 NA19064.hp2 NA19068.hp1 NA19090.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0011 a0017 a0024 a0027 a0028 a0029 a0030	a0001c0001 a0001c0005 a0001c0038 others(20): Show a0001c0001 a0001c0005 a0001c0038 a0001c0041 a0001c0046 a0002c0002 a0003c0003 a0003c0021 a0003c0032 a0004c0004 a0005c0008 a0005c0013 a0005c0016 a0006c0007 a0006c0026 a0008c0011 a0011c0051 a0017c0034 a0024c0020 a0027c0018 a0028c0053 a0029c0052 a0030c0050	a0001c0001t0001 a0001c0001t0004 a0001c0005t0005 others(25): Show a0001c0001t0001 a0001c0001t0004 a0001c0005t0005 a0001c0038t0004 a0001c0041t0007 a0001c0046t0007 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 a0003c0003t0004 a0003c0003t0016 a0003c0021t0013 a0003c0032t0003 a0004c0004t0001 a0005c0008t0006 a0005c0013t0006 a0005c0016t0006 a0006c0007t0006 a0006c0026t0006 a0008c0011t0007 a0008c0011t0012 a0011c0051t0007 a0017c0034t0006 a0024c0020t0007 a0027c0018t0007 a0028c0053t0007 a0029c0052t0008 a0030c0050t0010	a0001c0001t0001g0074 a0001c0001t0001g0081 a0001c0001t0001g0103 others(48): Show a0001c0001t0001g0074 a0001c0001t0001g0081 a0001c0001t0001g0103 a0001c0001t0001g0116 a0001c0001t0004g0013 a0001c0001t0004g0014 a0001c0001t0004g0019 a0001c0001t0004g0073 a0001c0001t0004g0082 a0001c0001t0004g0090 a0001c0001t0004g0105 a0001c0001t0004g0115 a0001c0001t0004g0124 a0001c0001t0004g0137 a0001c0001t0004g0183 a0001c0005t0005g0129 a0001c0005t0005g0170 a0001c0038t0004g0023 a0001c0041t0007g0146 a0001c0046t0007g0133 a0002c0002t0001g0015 a0002c0002t0001g0022 a0002c0002t0001g0178 a0002c0002t0002g0053 a0003c0003t0001g0057 a0003c0003t0001g0180 a0003c0003t0001g0187 a0003c0003t0004g0001 a0003c0003t0004g0049 a0003c0003t0016g0172 a0003c0021t0013g0043 a0003c0032t0003g0029 a0004c0004t0001g0173 a0005c0008t0006g0036 a0005c0008t0006g0128 a0005c0008t0006g0158 a0005c0013t0006g0147 a0005c0013t0006g0148 a0005c0016t0006g0028 a0006c0007t0006g0039 a0006c0007t0006g0040 a0006c0026t0006g0168 a0008c0011t0007g0042 a0008c0011t0012g0041 a0011c0051t0007g0194 a0017c0034t0006g0200 a0024c0020t0007g0047 a0027c0018t0007g0145 a0028c0053t0007g0199 a0029c0052t0008g0198 a0030c0050t0010g0195	52	206	0.2524	22	c.865 others(41): Show c.8650-1059_8650-1058insGTTTGGTATGGGACATTACCTG	COL12A1	ENSG00000111799.22	transcript	ENST00000322507.13	protein_coding	60/65			chr6	TogoVar
COL12A1_chr6_75079326_75211053	75208124	T T	TTCTCTCT others(15): Show TTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0085 a0002c0002t0002g0085	1	206	0.0049	22	c.-23 others(33): Show c.-2384_-2383insGAGAGAGAGAGAGAGAGAGAGA	COL12A1	ENSG00000111799.22	transcript	ENST00000322507.13	protein_coding		2072		chr6	TogoVar
COL12A1_chr6_75079326_75211053	75208156	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTCTCTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0063 a0001c0001t0022g0063	1	206	0.0049	22	c.-24 others(33): Show c.-2416_-2415insAAGAGAGAGAGAGAGAGAGAGA	COL12A1	ENSG00000111799.22	transcript	ENST00000322507.13	protein_coding		2104		chr6	TogoVar
COL12A1_chr6_75079326_75211053	75208160	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTCTCTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0071 a0002c0002t0001g0071	1	206	0.0049	22	c.-24 others(33): Show c.-2420_-2419insAAGAGAGAGAGAGAGAGAGAGA	COL12A1	ENSG00000111799.22	transcript	ENST00000322507.13	protein_coding		2108		chr6	TogoVar
COL12A1_chr6_75079326_75211053	75208162	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTCTCTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	206	0.0049	22	c.-24 others(33): Show c.-2422_-2421insAAGAGAGAGAGAGAGAGAGAGA	COL12A1	ENSG00000111799.22	transcript	ENST00000322507.13	protein_coding		2110		chr6	TogoVar
COL12A1_chr6_75079326_75211053	75208164	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTCTCTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp1 NA18948.hp1 NA18985.hp2 others(1): Show HG02080.hp1 NA18948.hp1 NA18985.hp2 NA19091.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0005 a0002c0002 others(1): Show a0001c0001 a0001c0005 a0002c0002 a0003c0003	a0001c0001t0004 a0001c0005t0002 a0002c0002t0001 others(1): Show a0001c0001t0004 a0001c0005t0002 a0002c0002t0001 a0003c0003t0001	a0001c0001t0004g0090 a0001c0005t0002g0142 a0002c0002t0001g0089 others(1): Show a0001c0001t0004g0090 a0001c0005t0002g0142 a0002c0002t0001g0089 a0003c0003t0001g0067	4	206	0.0194	22	c.-24 others(33): Show c.-2424_-2423insAAGAGAGAGAGAGAGAGAGAGA	COL12A1	ENSG00000111799.22	transcript	ENST00000322507.13	protein_coding		2112		chr6	TogoVar
COL12A1_chr6_75079326_75211053	75208166	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTCTCTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0045 a0001c0045	a0001c0045t0003 a0001c0045t0003	a0001c0045t0003g0134 a0001c0045t0003g0134	1	206	0.0049	22	c.-24 others(33): Show c.-2426_-2425insAAGAGAGAGAGAGAGAGAGAGA	COL12A1	ENSG00000111799.22	transcript	ENST00000322507.13	protein_coding		2114		chr6	TogoVar
COL12A1_chr6_75079326_75211053	75208168	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTCTCTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	206	0.0049	22	c.-24 others(33): Show c.-2428_-2427insAAGAGAGAGAGAGAGAGAGAGA	COL12A1	ENSG00000111799.22	transcript	ENST00000322507.13	protein_coding		2116		chr6	TogoVar
COL13A1_chr10_69796906_69964144	69810376	G G	GAGAGAGA others(15): Show GAGAGAGAGAGAGACACAGAGAC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02071.hp2 HG02083.hp2 others(10): Show HG02027.hp1 HG02071.hp2 HG02083.hp2 HG02129.hp2 HG02895.hp1 HG02897.hp1 HG03669.hp2 NA18964.hp2 NA18981.hp2 NA18994.hp2 NA19011.hp1 NA19011.hp2 NA19088.hp2	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0004c0026 a0006c0033	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 a0001c0004t0002 a0004c0026t0002 a0006c0033t0001	a0001c0001t0001g0080 a0001c0001t0001g0138 a0001c0002t0001g0184 others(10): Show a0001c0001t0001g0080 a0001c0001t0001g0138 a0001c0002t0001g0184 a0001c0002t0001g0205 a0001c0002t0001g0221 a0001c0002t0001g0226 a0001c0002t0002g0229 a0001c0002t0002g0231 a0001c0004t0001g0227 a0001c0004t0001g0228 a0001c0004t0002g0220 a0004c0026t0002g0230 a0006c0033t0001g0225	13	324	0.0401	22	c.294 others(39): Show c.294+7664_294+7665insGAGAGAGACACAGAGACAGAGA	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL14A1_chr8_120120102_120378573	120202989	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02602.hp2 NA18980.hp2 HG01070.hp2 HG02602.hp2 NA18980.hp2	a0002 a0003 a0014 a0002 a0003 a0014	a0002c0002 a0003c0004 a0014c0038 a0002c0002 a0003c0004 a0014c0038	a0002c0002t0001 a0003c0004t0001 a0014c0038t0001 a0002c0002t0001 a0003c0004t0001 a0014c0038t0001	a0002c0002t0001g0218 a0003c0004t0001g0199 a0014c0038t0001g0031 a0002c0002t0001g0218 a0003c0004t0001g0199 a0014c0038t0001g0031	3	218	0.0138	22	c.878 others(37): Show c.878-709_878-688dupATATATATATATATATATATAT	COL14A1	ENSG00000187955.13	transcript	ENST00000297848.8	protein_coding	8/47		INFO_REALIGN_3_PRIME	chr8	TogoVar
COL15A1_chr9_98938907_99075787	99024268	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0310 a0002c0002t0001g0310	1	310	0.0032	22	c.185 others(39): Show c.1855-598_1855-597insTTTTTTTTTTTTTTTTTTTTTT	COL15A1	ENSG00000204291.12	transcript	ENST00000375001.8	protein_coding	14/41		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL15A1_chr9_98938907_99075787	99066599	G G	GGTTTTTT others(15): Show GGTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA19076.hp2 NA19078.hp1 NA18991.hp2 NA19076.hp2 NA19078.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0007 a0002c0002t0001g0176 a0002c0002t0001g0235 a0002c0002t0001g0007 a0002c0002t0001g0176 a0002c0002t0001g0235	3	310	0.0097	22	c.365 others(39): Show c.3652-283_3652-282insGTTTTTTTTTTTTTTTTTTTTT	COL15A1	ENSG00000204291.12	transcript	ENST00000375001.8	protein_coding	39/41			chr9	TogoVar
COL15A1_chr9_98938907_99075787	99066599	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTGTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0005 a0005	a0005c0061 a0005c0061	a0005c0061t0001 a0005c0061t0001	a0005c0061t0001g0041 a0005c0061t0001g0041	1	310	0.0032	22	c.365 others(39): Show c.3652-272_3652-271insGTTTTTTTTTTTTTTTTTTTTT	COL15A1	ENSG00000204291.12	transcript	ENST00000375001.8	protein_coding	39/41		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL15A1_chr9_98938907_99075787	99066599	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 NA18992.hp1 NA19002.hp2 others(2): Show HG00408.hp1 NA18992.hp1 NA19002.hp2 NA19009.hp1 NA19066.hp2	a0002 a0003 a0008 others(1): Show a0002 a0003 a0008 a0016	a0002c0002 a0003c0006 a0003c0036 others(2): Show a0002c0002 a0003c0006 a0003c0036 a0008c0033 a0016c0064	a0002c0002t0001 a0003c0006t0001 a0003c0036t0001 others(2): Show a0002c0002t0001 a0003c0006t0001 a0003c0036t0001 a0008c0033t0001 a0016c0064t0001	a0002c0002t0001g0111 a0003c0006t0001g0146 a0003c0036t0001g0274 others(2): Show a0002c0002t0001g0111 a0003c0006t0001g0146 a0003c0036t0001g0274 a0008c0033t0001g0120 a0016c0064t0001g0077	5	310	0.0161	22	c.365 others(39): Show c.3652-279_3652-258dupTTTTTTTTTTTTTTTTTTTTTT	COL15A1	ENSG00000204291.12	transcript	ENST00000375001.8	protein_coding	39/41		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL16A1_chr1_31647263_31709017	31707385	T T	TTTTCTTT others(15): Show TTTTCTTTTCTTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0013 a0002c0004t0001g0013	1	342	0.0029	22	c.-35 others(33): Show c.-3584_-3583insGAAAGAAAGAAAAGAAAAGAAA	COL16A1	ENSG00000084636.18	transcript	ENST00000373672.8	protein_coding		3369		chr1	TogoVar
COL16A1_chr1_31647263_31709017	31707396	T T	TTCTTTTC others(15): Show TTCTTTTCTTTTCTTTTCTTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp2 NA18950.hp1 HG02523.hp1 HG02523.hp2 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0208 a0001c0001t0001g0253 a0001c0003t0002g0228 a0001c0001t0001g0208 a0001c0001t0001g0253 a0001c0003t0002g0228	3	342	0.0088	22	c.-35 others(33): Show c.-3595_-3594insGAAAAGAAAAGAAAAGAAAAGA	COL16A1	ENSG00000084636.18	transcript	ENST00000373672.8	protein_coding		3380		chr1	TogoVar
COL18A1_chr21_45400165_45518720	45405113	G G	GCCCCTGC others(15): Show GCCCCTGCCCGCCCCCTGCCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp1 NA19060.hp2 HG04184.hp1 NA19060.hp2	a0007 a0009 a0007 a0009	a0007c0034 a0009c0016 a0007c0034 a0009c0016	a0007c0034t0001 a0009c0016t0002 a0007c0034t0001 a0009c0016t0002	a0007c0034t0001g0282 a0009c0016t0002g0252 a0007c0034t0001g0282 a0009c0016t0002g0252	2	292	0.0069	22	c.-11 others(31): Show c.-118_-117insCCCCTGCCCGCCCCCTGCCCGC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding		51		chr21	TogoVar
COL18A1_chr21_45400165_45518720	45506787	C C	CTGGAGCC others(15): Show CTGGAGCCCTCCCACCCTCCTAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02735.hp1 NA19012.hp1 HG00639.hp2 HG02735.hp1 NA19012.hp1	a0001 a0023 a0001 a0023	a0001c0005 a0001c0055 a0023c0085 a0001c0005 a0001c0055 a0023c0085	a0001c0005t0003 a0001c0055t0003 a0023c0085t0002 a0001c0005t0003 a0001c0055t0003 a0023c0085t0002	a0001c0005t0003g0211 a0001c0055t0003g0152 a0023c0085t0002g0106 a0001c0005t0003g0211 a0001c0055t0003g0152 a0023c0085t0002g0106	3	292	0.0103	22	c.321 others(39): Show c.3217-759_3217-758insCTCCTATTGGAGCCCTCCCACC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	37/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL19A1_chr6_69861556_70217468	69896543	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0012 a0002c0004t0012	a0002c0004t0012g0159 a0002c0004t0012g0159	1	182	0.0055	22	c.92- others(37): Show c.92-2398_92-2377dupAAAAAAAAAAAAAAAAAAAAAA	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	2/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL19A1_chr6_69861556_70217468	70016366	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0008 a0008	a0008c0019 a0008c0019	a0008c0019t0001 a0008c0019t0001	a0008c0019t0001g0106 a0008c0019t0001g0106	1	182	0.0055	22	c.102 others(41): Show c.1027-7243_1027-7242insAAAAAAAAAAAAAAAAAAAAAA	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	11/50		INFO_REALIGN_3_PRIME	chr6	TogoVar

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