JoGo: Joint Open Genome and Omics Platform

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
COL16A1_chr1_31647263_31709017	31707338	C C	CCTTTTCT others(23): Show CCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG01069.hp2 HG01071.hp2 others(14): Show HG00597.hp2 HG01069.hp2 HG01071.hp2 HG01168.hp1 HG03209.hp1 HG03486.hp2 HG03491.hp1 HG03704.hp1 HG03942.hp2 NA18944.hp1 NA18974.hp1 NA18974.hp2 NA18990.hp1 NA19002.hp1 NA19055.hp2 NA19065.hp2 NA19083.hp2	a0001 a0003 a0022 a0001 a0003 a0022	a0001c0001 a0001c0003 a0001c0008 others(3): Show a0001c0001 a0001c0003 a0001c0008 a0001c0015 a0003c0007 a0022c0046	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 a0001c0008t0001 a0001c0015t0001 a0003c0007t0001 a0022c0046t0002	a0001c0001t0001g0001 a0001c0001t0002g0142 a0001c0001t0002g0241 others(12): Show a0001c0001t0001g0001 a0001c0001t0002g0142 a0001c0001t0002g0241 a0001c0001t0002g0247 a0001c0003t0001g0023 a0001c0003t0001g0258 a0001c0003t0001g0259 a0001c0003t0001g0286 a0001c0003t0002g0140 a0001c0008t0001g0197 a0001c0015t0001g0215 a0001c0015t0001g0216 a0003c0007t0001g0278 a0003c0007t0001g0285 a0022c0046t0002g0143	17	342	0.0497	30	c.-35 others(41): Show c.-3537_-3536insAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	COL16A1	ENSG00000084636.18	transcript	ENST00000373672.8	protein_coding		3322		chr1	TogoVar
COL18A1_chr21_45400165_45518720	45437463	C C	CACAGGCA others(23): Show CACAGGCACTCTCCTGCACACACTCACACAG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01192.hp2 HG00642.hp2 HG01192.hp2	a0001 a0029 a0001 a0029	a0001c0013 a0029c0071 a0001c0013 a0029c0071	a0001c0013t0014 a0029c0071t0002 a0001c0013t0014 a0029c0071t0002	a0001c0013t0014g0210 a0029c0071t0002g0134 a0001c0013t0014g0210 a0029c0071t0002g0134	2	292	0.0069	30	c.107 others(49): Show c.107-30751_107-30750insAGACAGGCACTCTCCTGCACACACTC ACAC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45490490	C C	CCTCCCGG others(23): Show CCTCCCGGGTCTCTGGGCCTCCGTGTGCCCA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	292	0.0034	30	c.203 others(47): Show c.2031+174_2031+203dupACTCCCGGGTCTCTGGGCCTCCGTGTGC CC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	20/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL21A1_chr6_56051590_56252580	56098026	T T	TATAAATA others(23): Show TATAAATATATATAAATATAAATATATATAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02258.hp2 HG02559.hp2 others(4): Show HG02257.hp2 HG02258.hp2 HG02559.hp2 HG02809.hp1 NA18981.hp1 NA19065.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0001 a0001c0001t0003 a0001c0001t0006	a0001c0001t0001g0101 a0001c0001t0001g0161 a0001c0001t0001g0162 others(4): Show a0001c0001t0001g0101 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0221 a0001c0001t0003g0078 a0001c0001t0006g0020 a0001c0001t0006g0022	7	264	0.0265	30	c.181 others(49): Show c.1812+3445_1812+3446insTTATATATATTTATATTTATATATAT TTAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL21A1_chr6_56051590_56252580	56148338	C C	CAGAGAGA others(23): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0019 a0001c0001t0006g0019	1	264	0.0038	30	c.143 others(49): Show c.1435-6385_1435-6356dupCTCTCTCTCTCTCTCTCTCTCTCTCT CTCT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	10/29			chr6	TogoVar
COL22A1_chr8_138583235_138919041	138636480	A A	AGAAAGGA others(23): Show AGAAAGGAAAGGAAAGGAAAGGAAAGGAAAG	intron_variant intron_variant	MODIFIER	HG03492.hp2 NA19060.hp1 HG03492.hp2 NA19060.hp1	a0002 a0002	a0002c0005 a0002c0009 a0002c0005 a0002c0009	a0002c0005t0003 a0002c0009t0015 a0002c0005t0003 a0002c0009t0015	a0002c0005t0003g0007 a0002c0009t0015g0146 a0002c0005t0003g0007 a0002c0009t0015g0146	2	158	0.0127	30	c.355 others(47): Show c.3555+232_3555+261dupCTTTCCTTTCCTTTCCTTTCCTTTCCTT TC	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	48/64			chr8	TogoVar
COL22A1_chr8_138583235_138919041	138636532	A A	AAAGGAAA others(23): Show AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00639.hp1 HG02717.hp2 others(6): Show HG00597.hp1 HG00639.hp1 HG02717.hp2 HG02970.hp2 HG03225.hp1 HG03225.hp2 HG03579.hp2 HG03704.hp2 NA18906.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0010 a0001c0012 a0001c0017 others(4): Show a0001c0010 a0001c0012 a0001c0017 a0001c0018 a0002c0004 a0002c0011 a0006c0037	a0001c0010t0001 a0001c0012t0001 a0001c0017t0005 others(5): Show a0001c0010t0001 a0001c0012t0001 a0001c0017t0005 a0001c0017t0007 a0001c0018t0001 a0002c0004t0008 a0002c0011t0005 a0006c0037t0008	a0001c0010t0001g0027 a0001c0012t0001g0037 a0001c0017t0005g0152 others(6): Show a0001c0010t0001g0027 a0001c0012t0001g0037 a0001c0017t0005g0152 a0001c0017t0007g0147 a0001c0018t0001g0075 a0002c0004t0008g0023 a0002c0004t0008g0099 a0002c0011t0005g0144 a0006c0037t0008g0067	9	158	0.0570	30	c.355 others(47): Show c.3555+209_3555+210insGCCTTTCCTTTCCTTTCCTTTCCTTTCC TT	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	48/64			chr8	TogoVar
COL22A1_chr8_138583235_138919041	138636532	A A	AAAGGAAA others(23): Show AAAGGAAAGGAAAGGAAAGGAAAGGCAAGGC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01106.hp1 HG01261.hp2 others(3): Show HG00280.hp2 HG01106.hp1 HG01261.hp2 HG02055.hp2 HG04199.hp1 NA18944.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0002c0007 a0003c0035	a0001c0001t0001 a0001c0002t0003 a0002c0003t0003 others(2): Show a0001c0001t0001 a0001c0002t0003 a0002c0003t0003 a0002c0007t0001 a0003c0035t0006	a0001c0001t0001g0050 a0001c0002t0003g0009 a0002c0003t0003g0001 others(3): Show a0001c0001t0001g0050 a0001c0002t0003g0009 a0002c0003t0003g0001 a0002c0007t0001g0111 a0002c0007t0001g0137 a0003c0035t0006g0073	6	158	0.0380	30	c.355 others(47): Show c.3555+209_3555+210insGCCTTGCCTTTCCTTTCCTTTCCTTTCC TT	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	48/64			chr8	TogoVar
COL23A1_chr5_178232618_178595393	178258236	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0066 a0002c0003t0005g0066	1	236	0.0042	30	c.730 others(45): Show c.730-670_730-669insATATATATATATATATATATATATATATAT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	12/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178258262	T T	TATATATA others(23): Show TATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0045 a0002c0002t0001g0045	1	236	0.0042	30	c.730 others(45): Show c.730-696_730-695insGTGTATATATATATATATATATATATATAT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	12/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178448110	A A	ACAGTCCG others(23): Show ACAGTCCGTTTTGTTCTGTTAGTGCTAGTCG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01167.hp2 HG00408.hp1 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0004 a0001c0004t0001 a0001c0001t0004 a0001c0004t0001	a0001c0001t0004g0021 a0001c0004t0001g0094 a0001c0001t0004g0021 a0001c0004t0001g0094	2	236	0.0085	30	c.361 others(51): Show c.361+112542_361+112571dupCGACTAGCACTAACAGAACAAAAC GGACTG	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178448120	T T	TTGTTCTG others(23): Show TTGTTCTGTTAGTGCTAGTCGCAGTCCGTTC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01168.hp1 HG01433.hp1 others(8): Show HG00738.hp2 HG01168.hp1 HG01433.hp1 HG01891.hp2 HG02055.hp2 HG02615.hp2 HG02723.hp2 HG02965.hp2 HG03195.hp1 HG04184.hp1 HG06807.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0004 a0002c0002 others(3): Show a0001c0001 a0001c0004 a0002c0002 a0002c0003 a0003c0005 a0006c0020	a0001c0001t0004 a0001c0001t0005 a0001c0004t0005 others(6): Show a0001c0001t0004 a0001c0001t0005 a0001c0004t0005 a0002c0002t0010 a0002c0003t0002 a0002c0003t0003 a0002c0003t0005 a0003c0005t0003 a0006c0020t0012	a0001c0001t0004g0035 a0001c0001t0004g0039 a0001c0001t0005g0072 others(8): Show a0001c0001t0004g0035 a0001c0001t0004g0039 a0001c0001t0005g0072 a0001c0004t0005g0106 a0002c0002t0010g0228 a0002c0003t0002g0089 a0002c0003t0003g0088 a0002c0003t0005g0068 a0002c0003t0005g0092 a0003c0005t0003g0125 a0006c0020t0012g0085	11	236	0.0466	30	c.361 others(51): Show c.361+112561_361+112562insGAACGGACTGCGACTAGCACTAAC AGAACA	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178548012	C C	CACACACC others(23): Show CACACACCCACCCACACACACCCACCCACAA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0146 a0002c0003t0005g0146	1	236	0.0042	30	c.361 others(49): Show c.361+12669_361+12670insTTGTGGGTGGGTGTGTGTGGGTGGGT GTGT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178556625	T T	TTAAAATA others(23): Show TTAAAATAAAATAAAATAAAATAAAATAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01243.hp2 NA18973.hp2 others(1): Show HG01074.hp2 HG01243.hp2 NA18973.hp2 NA18999.hp1	a0001 a0003 a0012 a0001 a0003 a0012	a0001c0001 a0003c0005 a0003c0007 others(1): Show a0001c0001 a0003c0005 a0003c0007 a0012c0012	a0001c0001t0003 a0003c0005t0002 a0003c0007t0001 others(1): Show a0001c0001t0003 a0003c0005t0002 a0003c0007t0001 a0012c0012t0002	a0001c0001t0003g0073 a0003c0005t0002g0163 a0003c0007t0001g0013 others(1): Show a0001c0001t0003g0073 a0003c0005t0002g0163 a0003c0007t0001g0013 a0012c0012t0002g0162	4	236	0.0170	30	c.361 others(47): Show c.361+4027_361+4056dupTTTTATTTTATTTTATTTTATTTTATTT TA	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL24A1_chr1_85724233_86161772	85906264	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03540.hp2 HG02965.hp2 HG03540.hp2	a0001 a0009 a0001 a0009	a0001c0005 a0009c0044 a0001c0005 a0009c0044	a0001c0005t0003 a0009c0044t0011 a0001c0005t0003 a0009c0044t0011	a0001c0005t0003g0218 a0009c0044t0011g0110 a0001c0005t0003g0218 a0009c0044t0011g0110	2	238	0.0084	30	c.277 others(47): Show c.2778+929_2778+930insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	28/59			chr1	TogoVar
COL24A1_chr1_85724233_86161772	85997055	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTGTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02735.hp1 NA18951.hp2 HG02735.hp1 NA18951.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0006 a0001c0001 a0008c0006	a0001c0001t0003 a0008c0006t0001 a0001c0001t0003 a0008c0006t0001	a0001c0001t0003g0157 a0008c0006t0001g0050 a0001c0001t0003g0157 a0008c0006t0001g0050	2	238	0.0084	30	c.231 others(49): Show c.2311-9402_2311-9401insTATATATATATATACACACACACACA CACA	COL24A1	ENSG00000171502.15	transcript	ENST00000370571.7	protein_coding	19/59			chr1	TogoVar
COL25A1_chr4_108803725_109307658	108835861	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0056	1	130	0.0077	30	c.165 others(49): Show c.1657-3429_1657-3428insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	31/37			chr4	TogoVar
COL25A1_chr4_108803725_109307658	108961568	C C	CCTGTTCT others(23): Show CCTGTTCTGTTCTGTTCTGTTCTGTTCTGTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00735.hp2 HG02896.hp1 HG00323.hp1 HG00735.hp2 HG02896.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0003 a0001c0002t0010 a0001c0003t0023 a0001c0002t0003 a0001c0002t0010 a0001c0003t0023	a0001c0002t0003g0010 a0001c0002t0010g0030 a0001c0003t0023g0127 a0001c0002t0003g0010 a0001c0002t0010g0030 a0001c0003t0023g0127	3	130	0.0231	30	c.492 others(49): Show c.492+12769_492+12798dupAACAGAACAGAACAGAACAGAACAGA ACAG	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	8/37			chr4	TogoVar
COL25A1_chr4_108803725_109307658	109096499	C C	CAGGCTAT others(23): Show CAGGCTATACCACATAGCCTAGGTGTACAGT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01167.hp1 HG01175.hp1 others(21): Show HG00741.hp1 HG01167.hp1 HG01175.hp1 HG01361.hp1 HG01993.hp1 HG02056.hp2 HG02071.hp2 HG02145.hp1 HG02165.hp2 HG02280.hp1 HG02486.hp2 HG02523.hp1 HG02602.hp2 HG02717.hp2 HG02965.hp2 HG03195.hp2 HG03927.hp1 HG06807.hp2 NA18522.hp1 NA18941.hp1 NA18998.hp1 NA18998.hp2 NA19086.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0019 a0001c0001t0020 a0001c0002t0004 a0001c0002t0009 a0001c0003t0001 a0001c0003t0004 a0001c0003t0024 a0001c0004t0001	a0001c0001t0001g0059 a0001c0001t0002g0056 a0001c0001t0002g0058 others(21): Show a0001c0001t0001g0059 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0088 a0001c0001t0002g0094 a0001c0001t0002g0100 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0116 a0001c0001t0002g0120 a0001c0001t0003g0020 a0001c0001t0003g0025 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0005g0077 a0001c0001t0019g0023 a0001c0001t0020g0035 a0001c0002t0004g0024 a0001c0002t0004g0028 a0001c0002t0009g0006 a0001c0003t0001g0107 a0001c0003t0004g0026 a0001c0003t0024g0045 a0001c0004t0001g0040	24	130	0.1846	30	c.368 others(49): Show c.368-46350_368-46321dupACTGTACACCTAGGCTATGTGGTATA GCCT	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	3/37			chr4	TogoVar
COL25A1_chr4_108803725_109307658	109250369	T T	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0117 a0001c0001t0002g0117	1	130	0.0077	30	c.367 others(49): Show c.367+50213_367+50214insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	3/37			chr4	TogoVar
COL26A1_chr7_101357875_101564024	101385367	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01515.hp1 HG00735.hp1 HG01515.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0014 a0002c0003t0001 a0001c0001t0014 a0002c0003t0001	a0001c0001t0014g0142 a0002c0003t0001g0140 a0001c0001t0014g0142 a0002c0003t0001g0140	2	174	0.0115	30	c.158 others(49): Show c.158+22196_158+22197insATATATATATATATATATATATATAT ATAT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101494127	C C	CGTTTTAT others(23): Show CGTTTTATTTTGTTTTGTTTTGTTTTGTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03139.hp1 HG03492.hp1 HG02280.hp1 HG03139.hp1 HG03492.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0006 a0002c0004t0001 a0002c0004t0024 a0001c0002t0006 a0002c0004t0001 a0002c0004t0024	a0001c0002t0006g0041 a0002c0004t0001g0129 a0002c0004t0024g0095 a0001c0002t0006g0041 a0002c0004t0001g0129 a0002c0004t0024g0095	3	174	0.0172	30	c.386 others(49): Show c.386-38950_386-38949insATTTTGTTTTGTTTTGTTTTGTTTTG TTTT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101494127	C C	CGTTTTGT others(23): Show CGTTTTGTTTTGTTTTGTTTTGTTTTGTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA20300.hp1 HG03130.hp1 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0018 a0001c0001 a0003c0018	a0001c0001t0011 a0003c0018t0019 a0001c0001t0011 a0003c0018t0019	a0001c0001t0011g0108 a0003c0018t0019g0005 a0001c0001t0011g0108 a0003c0018t0019g0005	2	174	0.0115	30	c.386 others(49): Show c.386-38931_386-38930insTGTTTTGTTTTGTTTTGTTTTGTTTT GTTT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL28A1_chr7_7352875_7540873	7374038	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0034 a0034	a0034c0040 a0034c0040	a0034c0040t0002 a0034c0040t0002	a0034c0040t0002g0040 a0034c0040t0002g0040	1	196	0.0051	30	c.236 others(47): Show c.2360-493_2360-492insATATATATATATATATATTTTTTTTTTT TT	COL28A1	ENSG00000215018.10	transcript	ENST00000399429.8	protein_coding	31/34			chr7	TogoVar
COL3A1_chr2_188969373_189017746	188972936	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG02886.hp1 HG00438.hp2 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0315 a0001c0001t0009g0116 a0001c0001t0001g0315 a0001c0001t0009g0116	2	376	0.0053	30	c.-15 others(41): Show c.-1554_-1553insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	COL3A1	ENSG00000168542.17	transcript	ENST00000304636.9	protein_coding		1436		chr2	TogoVar
COL3A1_chr2_188969373_189017746	188997014	T T	TATATATA others(23): Show TATATATATATGAGACATATATATATGAGAC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02165.hp1 HG02886.hp1 others(4): Show HG00423.hp1 HG02165.hp1 HG02886.hp1 HG03516.hp1 HG06807.hp2 NA19066.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 a0001c0003t0002	a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0222 others(4): Show a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0006g0113 a0001c0001t0009g0116 a0001c0003t0002g0237	7	376	0.0186	30	c.176 others(45): Show c.1762-89_1762-60dupTATATATATGAGACATATATATATGAGACA	COL3A1	ENSG00000168542.17	transcript	ENST00000304636.9	protein_coding	24/50		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A2_chr13_110302284_110518209	110355484	T T	TGGGAGAG others(23): Show TGGGAGAGGGCTGCACTAGCTCACCTGTGTG	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0004 a0004c0012t0004	a0004c0012t0004g0307 a0004c0012t0004g0307	1	372	0.0027	30	c.100 others(47): Show c.100-1985_100-1984insAGAGGGCTGCACTAGCTCACCTGTGTGG GG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110355533	T T	TAGCTCAC others(23): Show TAGCTCACCTGTGTGGGGGGAGGGCAGTACC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0007 a0001c0016t0007	a0001c0016t0007g0235 a0001c0016t0007g0235	1	372	0.0027	30	c.100 others(47): Show c.100-1925_100-1924insGGGGGAGGGCAGTACCAGCTCACCTGTG TG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110355843	G G	GTGGAGGG others(23): Show GTGGAGGGCTGTACAGCTCACCTGTGTGAGT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG03834.hp2 HG04184.hp1 HG01515.hp2 HG03834.hp2 HG04184.hp1	a0002 a0002	a0002c0006 a0002c0019 a0002c0006 a0002c0019	a0002c0006t0006 a0002c0019t0002 a0002c0019t0037 a0002c0006t0006 a0002c0019t0002 a0002c0019t0037	a0002c0006t0006g0066 a0002c0019t0002g0303 a0002c0019t0037g0026 a0002c0006t0006g0066 a0002c0019t0002g0303 a0002c0019t0037g0026	3	372	0.0081	30	c.100 others(47): Show c.100-1629_100-1628insTGGAGGGCTGTACAGCTCACCTGTGTGA GT	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47			chr13	TogoVar
COL4A2_chr13_110302284_110518209	110480906	C C	CTGGAGAC others(23): Show CTGGAGACACACTGTTCTGTCCTTCCATTGG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0024 a0002c0006t0002g0024	1	372	0.0027	30	c.275 others(47): Show c.2758+537_2758+538insTTCCATTGGTGGAGACACACTGTTCTGT CC	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110481018	T T	TTCCGTTG others(23): Show TTCCGTTGCTGGAGACACACTGCTCTGTCCC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01516.hp1 HG01517.hp1 HG01433.hp2 HG01516.hp1 HG01517.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0006 a0002c0006t0001 a0001c0001t0006 a0002c0006t0001	a0001c0001t0006g0074 a0001c0001t0006g0075 a0002c0006t0001g0258 a0001c0001t0006g0074 a0001c0001t0006g0075 a0002c0006t0001g0258	3	372	0.0081	30	c.275 others(47): Show c.2758+647_2758+648insTGCTCTGTCCCTCCGTTGCTGGAGACAC AC	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110481082	G G	GTTGCTGG others(23): Show GTTGCTGGAGACACACAGTTCTGTCCTTCCA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01934.hp1 others(22): Show HG01257.hp1 HG01258.hp1 HG01934.hp1 HG02300.hp1 HG03239.hp1 HG03490.hp1 HG03492.hp1 HG03688.hp2 HG04199.hp1 HG06807.hp2 NA18941.hp2 NA18946.hp2 NA18962.hp2 NA18970.hp1 NA18979.hp1 NA18981.hp2 NA18986.hp2 NA19001.hp2 NA19011.hp2 NA19063.hp1 NA19065.hp1 NA19066.hp2 NA19080.hp2 NA19081.hp2 NA20129.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0021	a0001c0001 a0001c0003 a0001c0004 others(10): Show a0001c0001 a0001c0003 a0001c0004 a0001c0008 a0001c0024 a0002c0006 a0002c0038 a0003c0007 a0003c0010 a0003c0018 a0004c0009 a0006c0033 a0021c0053	a0001c0001t0005 a0001c0001t0006 a0001c0003t0001 others(18): Show a0001c0001t0005 a0001c0001t0006 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0004t0003 a0001c0004t0004 a0001c0004t0040 a0001c0008t0001 a0001c0008t0002 a0001c0024t0002 a0002c0006t0001 a0002c0038t0002 a0003c0007t0005 a0003c0010t0004 a0003c0018t0004 a0003c0018t0005 a0003c0018t0006 a0004c0009t0002 a0006c0033t0012 a0021c0053t0007	a0001c0001t0005g0107 a0001c0001t0006g0047 a0001c0003t0001g0232 others(21): Show a0001c0001t0005g0107 a0001c0001t0006g0047 a0001c0003t0001g0232 a0001c0003t0002g0341 a0001c0003t0003g0049 a0001c0004t0003g0048 a0001c0004t0004g0287 a0001c0004t0040g0050 a0001c0008t0001g0108 a0001c0008t0001g0149 a0001c0008t0002g0344 a0001c0024t0002g0345 a0002c0006t0001g0228 a0002c0038t0002g0360 a0003c0007t0005g0259 a0003c0010t0004g0002 a0003c0018t0004g0309 a0003c0018t0005g0116 a0003c0018t0005g0117 a0003c0018t0006g0121 a0003c0018t0006g0145 a0004c0009t0002g0325 a0006c0033t0012g0335 a0021c0053t0007g0241	25	372	0.0672	30	c.275 others(47): Show c.2758+707_2758+708insAGTTCTGTCCTTCCATTGCTGGAGACAC AC	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110481168	C C	CTCCGTTG others(23): Show CTCCGTTGCTGGAGACACACAGTTCTGTCCT	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA19086.hp1 NA18955.hp1 NA19086.hp1	a0001 a0006 a0001 a0006	a0001c0002 a0006c0027 a0001c0002 a0006c0027	a0001c0002t0004 a0006c0027t0012 a0001c0002t0004 a0006c0027t0012	a0001c0002t0004g0292 a0006c0027t0012g0281 a0001c0002t0004g0292 a0006c0027t0012g0281	2	372	0.0054	30	c.275 others(47): Show c.2758+797_2758+798insAGTTCTGTCCTTCCGTTGCTGGAGACAC AC	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110481310	T T	TTCTGTCC others(23): Show TTCTGTCCCTCCGTTGCTGGAGACACACTGC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0002 a0002c0017t0002	a0002c0017t0002g0316 a0002c0017t0002g0316	1	372	0.0027	30	c.275 others(47): Show c.2758+931_2758+932insGTTGCTGGAGACACACTGCTCTGTCCCT CC	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110481322	A A	ATTGCTGG others(23): Show ATTGCTGGAGACACACTGTTCTGTCCCTCCG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0055 a0002c0055	a0002c0055t0016 a0002c0055t0016	a0002c0055t0016g0250 a0002c0055t0016g0250	1	372	0.0027	30	c.275 others(48): Show c.2758+992_2758+1021dupGTTGCTGGAGACACACTGTTCTGTCCC TCC	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110481340	T T	TTCTGTCC others(23): Show TTCTGTCCCTCCGTTGCTGGAGACACACTGC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp2 HG01069.hp1 others(9): Show HG00544.hp2 HG00597.hp2 HG01069.hp1 HG01516.hp1 HG01517.hp1 HG02135.hp1 HG02155.hp2 HG03704.hp1 NA18612.hp2 NA18963.hp1 NA19007.hp2 NA19088.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0004 a0001c0005 others(5): Show a0001c0001 a0001c0004 a0001c0005 a0001c0008 a0002c0006 a0002c0017 a0002c0092 a0004c0009	a0001c0001t0003 a0001c0001t0006 a0001c0004t0001 others(8): Show a0001c0001t0003 a0001c0001t0006 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0005t0001 a0001c0008t0003 a0002c0006t0003 a0002c0017t0002 a0002c0092t0001 a0004c0009t0001	a0001c0001t0003g0091 a0001c0001t0006g0074 a0001c0001t0006g0075 others(9): Show a0001c0001t0003g0091 a0001c0001t0006g0074 a0001c0001t0006g0075 a0001c0004t0001g0150 a0001c0004t0002g0359 a0001c0004t0003g0140 a0001c0005t0001g0102 a0001c0008t0003g0081 a0002c0006t0003g0084 a0002c0017t0002g0300 a0002c0092t0001g0230 a0004c0009t0001g0111	12	372	0.0323	30	c.275 others(47): Show c.2758+979_2758+980insCTCTGTCCCTCCGTTGCTGGAGACACAC TG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110481352	G G	GTTGCTGG others(23): Show GTTGCTGGAGACACACAGTTCTGTCCTTCCA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03654.hp1 HG03239.hp2 HG03654.hp1	a0001 a0002 a0001 a0002	a0001c0037 a0002c0006 a0001c0037 a0002c0006	a0001c0037t0020 a0002c0006t0006 a0001c0037t0020 a0002c0006t0006	a0001c0037t0020g0069 a0002c0006t0006g0070 a0001c0037t0020g0069 a0002c0006t0006g0070	2	372	0.0054	30	c.275 others(47): Show c.2758+977_2758+978insAGTTCTGTCCTTCCATTGCTGGAGACAC AC	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110481378	C C	CTCCGTTG others(23): Show CTCCGTTGCTGGAGACACACTGTTCTGTCCT	intron_variant intron_variant	MODIFIER	HG00738.hp1 NA19030.hp2 HG00738.hp1 NA19030.hp2	a0001 a0003 a0001 a0003	a0001c0014 a0003c0067 a0001c0014 a0003c0067	a0001c0014t0026 a0003c0067t0050 a0001c0014t0026 a0003c0067t0050	a0001c0014t0026g0156 a0003c0067t0050g0151 a0001c0014t0026g0156 a0003c0067t0050g0151	2	372	0.0054	30	c.275 others(49): Show c.2758+1017_2758+1018insTTCCGTTGCTGGAGACACACTGTTCT GTCC	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110481408	C C	CTCCGTTG others(23): Show CTCCGTTGCTGGAGACACACTGCTCTGTCCT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02015.hp2 HG02738.hp1 others(4): Show HG01074.hp1 HG02015.hp2 HG02738.hp1 HG03516.hp1 HG03927.hp1 NA18960.hp2 NA21309.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0018	a0001c0003 a0001c0008 a0001c0011 others(3): Show a0001c0003 a0001c0008 a0001c0011 a0003c0105 a0004c0012 a0018c0049	a0001c0003t0002 a0001c0008t0001 a0001c0011t0004 others(3): Show a0001c0003t0002 a0001c0008t0001 a0001c0011t0004 a0003c0105t0011 a0004c0012t0001 a0018c0049t0031	a0001c0003t0002g0293 a0001c0008t0001g0202 a0001c0011t0004g0311 others(4): Show a0001c0003t0002g0293 a0001c0008t0001g0202 a0001c0011t0004g0311 a0003c0105t0011g0168 a0004c0012t0001g0162 a0004c0012t0001g0199 a0018c0049t0031g0045	7	372	0.0188	30	c.275 others(49): Show c.2758+1021_2758+1022insGTTGCTGGAGACACACTGCTCTGTCC TTCC	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110481430	T T	TTCTGTCC others(23): Show TTCTGTCCTTCCGTTGCTGGAGACACACTGC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0002 a0002	a0002c0065 a0002c0065	a0002c0065t0014 a0002c0065t0014	a0002c0065t0014g0028 a0002c0065t0014g0028	1	372	0.0027	30	c.275 others(49): Show c.2758+1047_2758+1048insTTCCGTTGCTGGAGACACACTGCTCT GTCC	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110481472	G G	GTTGCTGG others(23): Show GTTGCTGGAGACACACTGCTCTGTCCTTCCA	intron_variant intron_variant	MODIFIER	HG01074.hp1 NA21309.hp2 HG01074.hp1 NA21309.hp2	a0003 a0018 a0003 a0018	a0003c0105 a0018c0049 a0003c0105 a0018c0049	a0003c0105t0011 a0018c0049t0031 a0003c0105t0011 a0018c0049t0031	a0003c0105t0011g0168 a0018c0049t0031g0045 a0003c0105t0011g0168 a0018c0049t0031g0045	2	372	0.0054	30	c.275 others(49): Show c.2759-1029_2759-1028insTGCTCTGTCCTTCCATTGCTGGAGAC ACAC	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110481522	C C	CTGTCCTT others(23): Show CTGTCCTTCCATTGCTGGAGACACACTGTTT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02738.hp1 HG03516.hp1 others(2): Show HG02015.hp2 HG02738.hp1 HG03516.hp1 HG03927.hp1 NA18960.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0001c0008 a0001c0011 others(1): Show a0001c0003 a0001c0008 a0001c0011 a0004c0012	a0001c0003t0002 a0001c0008t0001 a0001c0011t0004 others(1): Show a0001c0003t0002 a0001c0008t0001 a0001c0011t0004 a0004c0012t0001	a0001c0003t0002g0293 a0001c0008t0001g0202 a0001c0011t0004g0311 others(2): Show a0001c0003t0002g0293 a0001c0008t0001g0202 a0001c0011t0004g0311 a0004c0012t0001g0162 a0004c0012t0001g0199	5	372	0.0134	30	c.275 others(47): Show c.2759-989_2759-988insTTCCATTGCTGGAGACACACTGTTTTGT CC	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110481937	C C	CTCTGTCC others(23): Show CTCTGTCCTTCCATTGCTGGAGACACACTGT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG02300.hp2 others(1): Show HG01168.hp2 HG01169.hp1 HG02300.hp2 NA19084.hp1	a0001 a0010 a0001 a0010	a0001c0002 a0001c0014 a0010c0036 a0001c0002 a0001c0014 a0010c0036	a0001c0002t0005 a0001c0014t0001 a0010c0036t0021 a0001c0002t0005 a0001c0014t0001 a0010c0036t0021	a0001c0002t0005g0158 a0001c0014t0001g0194 a0010c0036t0021g0319 others(1): Show a0001c0002t0005g0158 a0001c0014t0001g0194 a0010c0036t0021g0319 a0010c0036t0021g0320	4	372	0.0108	30	c.275 others(47): Show c.2759-572_2759-571insTTCCATTGCTGGAGACACACTGTTCTGT CC	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110493051	A A	AGGTGAAA others(23): Show AGGTGAAATAACGATGAGTGACACCCCCATG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0067 a0001c0002t0003g0067	1	372	0.0027	30	c.356 others(46): Show c.3563-102_3563-73dupATGGGTGAAATAACGATGAGTGACACCCC C	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	38/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110509245	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00738.hp2 HG00408.hp2 HG00738.hp2	a0001 a0001	a0001c0003 a0001c0014 a0001c0003 a0001c0014	a0001c0003t0002 a0001c0014t0006 a0001c0003t0002 a0001c0014t0006	a0001c0003t0002g0267 a0001c0014t0006g0095 a0001c0003t0002g0267 a0001c0014t0006g0095	2	372	0.0054	30	c.488 others(49): Show c.4881+1050_4881+1051insTATATATATATATATATATATATATA TATA	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	47/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A3_chr2_227159624_227319792	227202982	C C	CATATATG others(23): Show CATATATGTGTATATATACATATATGTGTAT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG04115.hp2 HG03017.hp1 HG04115.hp2	a0009 a0023 a0009 a0023	a0009c0008 a0023c0046 a0009c0008 a0023c0046	a0009c0008t0001 a0023c0046t0001 a0009c0008t0001 a0023c0046t0001	a0009c0008t0001g0265 a0023c0046t0001g0313 a0009c0008t0001g0265 a0023c0046t0001g0313	2	344	0.0058	30	c.88- others(47): Show c.88-34982_88-34981insATGTGTATATATACATATATGTGTATAT AT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203112	T T	TATATATA others(23): Show TATATATACACATATATACACATATATACAC	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0007 a0005c0005t0007	a0005c0005t0007g0280 a0005c0005t0007g0280	1	344	0.0029	30	c.88- others(47): Show c.88-34850_88-34849insACACATATATACACATATATACACATAT AT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203288	C C	CCCATATG others(23): Show CCCATATGTGTATATATACACATATATGTGT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG03704.hp2 NA18954.hp2 others(1): Show HG00735.hp1 HG03704.hp2 NA18954.hp2 NA18959.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0002c0004 a0009c0008 a0001c0001 a0002c0004 a0009c0008	a0001c0001t0001 a0002c0004t0003 a0009c0008t0001 a0001c0001t0001 a0002c0004t0003 a0009c0008t0001	a0001c0001t0001g0131 a0001c0001t0001g0184 a0002c0004t0003g0125 others(1): Show a0001c0001t0001g0131 a0001c0001t0001g0184 a0002c0004t0003g0125 a0009c0008t0001g0077	4	344	0.0116	30	c.88- others(47): Show c.88-34680_88-34679insCCATATGTGTATATATACACATATATGT GT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51			chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203316	C C	CCCATATG others(23): Show CCCATATGTGTATATATACACATATATGTGT	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19091.hp1 NA19077.hp1 NA19091.hp1	a0007 a0009 a0007 a0009	a0007c0006 a0009c0008 a0007c0006 a0009c0008	a0007c0006t0005 a0009c0008t0001 a0007c0006t0005 a0009c0008t0001	a0007c0006t0005g0149 a0009c0008t0001g0270 a0007c0006t0005g0149 a0009c0008t0001g0270	2	344	0.0058	30	c.88- others(47): Show c.88-34652_88-34651insCCATATGTGTATATATACACATATATGT GT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51			chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203489	G G	GTATATGT others(23): Show GTATATGTGTATACATACATATATGTGTGTA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0005 a0007c0006t0005	a0007c0006t0005g0133 a0007c0006t0005g0133	1	344	0.0029	30	c.88- others(47): Show c.88-34467_88-34466insCATACATATATGTGTGTATATATGTGTA TA	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar

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