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 per page.

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
FAM20A_chr17_68530116_68606367	68581415	T T	TTTCTTTC others(16): Show TTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02148.hp1 HG01981.hp2 HG02148.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0009 a0002c0002 a0003c0009	a0002c0002t0001 a0003c0009t0001 a0002c0002t0001 a0003c0009t0001	a0002c0002t0001g0307 a0003c0009t0001g0083 a0002c0002t0001g0307 a0003c0009t0001g0083	2	380	0.0053	23	c.404 others(42): Show c.404+18847_404+18848insGAAAGAAAGAAAGAAAGAAAGAA	FAM20A	ENSG00000108950.12	transcript	ENST00000592554.2	protein_coding	1/10			chr17	TogoVar
FAM210A_chr18_13658347_13731558	13665381	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0068 a0001c0001t0041g0068	1	326	0.0031	23	c.10 others(34): Show c.1076_*1098dupTTTTTTTTTTTTTTTTTTTTTTT	FAM210A	ENSG00000177150.13	transcript	ENST00000651643.1	protein_coding	4/4	1098		chr18	TogoVar
FAM222B_chr17_28750980_28847790	28778719	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0223 a0001c0002t0003g0223	1	276	0.0036	23	c.-40 others(42): Show c.-40-12013_-40-12012insATATATATATATATATATATATA	FAM222B	ENSG00000173065.14	transcript	ENST00000581407.6	protein_coding	1/2			chr17	TogoVar
FAM222B_chr17_28750980_28847790	28778719	A A	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0241 a0001c0002t0002g0241	1	276	0.0036	23	c.-40 others(42): Show c.-40-12013_-40-12012insAAAAAAATATATATATATATATA	FAM222B	ENSG00000173065.14	transcript	ENST00000581407.6	protein_coding	1/2			chr17	TogoVar
FAM222B_chr17_28750980_28847790	28778719	A A	ATATATAT others(16): Show ATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0236 a0001c0002t0002g0236	1	276	0.0036	23	c.-40 others(42): Show c.-40-12013_-40-12012insAAAAAAAAATATATATATATATA	FAM222B	ENSG00000173065.14	transcript	ENST00000581407.6	protein_coding	1/2			chr17	TogoVar
FAM222B_chr17_28750980_28847790	28778719	A A	ATATATAT others(16): Show ATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0195 a0001c0002t0003g0195	1	276	0.0036	23	c.-40 others(42): Show c.-40-12013_-40-12012insAAAAAAAAAAAAATATATATATA	FAM222B	ENSG00000173065.14	transcript	ENST00000581407.6	protein_coding	1/2			chr17	TogoVar
FAM222B_chr17_28750980_28847790	28778720	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0203 a0001c0002t0002g0203	1	276	0.0036	23	c.-40 others(42): Show c.-40-12014_-40-12013insTATATATATATATATATATATAT	FAM222B	ENSG00000173065.14	transcript	ENST00000581407.6	protein_coding	1/2			chr17	TogoVar
FAM222B_chr17_28750980_28847790	28784491	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	276	0.0036	23	c.-40 others(42): Show c.-40-17807_-40-17785dupTTTTTTTTTTTTTTTTTTTTTTT	FAM222B	ENSG00000173065.14	transcript	ENST00000581407.6	protein_coding	1/2			chr17	TogoVar
FAM222B_chr17_28750980_28847790	28790884	C C	CATTTTTT others(16): Show CATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG03490.hp1 HG00140.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0022 a0001c0001t0001g0023	2	276	0.0073	23	c.-40 others(42): Show c.-40-24178_-40-24177insAAAAAAAAAAAAAAAAAAAAAAT	FAM222B	ENSG00000173065.14	transcript	ENST00000581407.6	protein_coding	1/2			chr17	TogoVar
FAM227A_chr22_38573118_38661392	38626891	A A	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0217 a0001c0001t0009g0218 a0001c0001t0009g0217 a0001c0001t0009g0218	2	328	0.0061	23	c.727 others(38): Show c.727-589_727-588insATATATATATATATATATTTTTT	FAM227A	ENSG00000184949.18	transcript	ENST00000535113.7	protein_coding	8/16			chr22	TogoVar
FAM227A_chr22_38573118_38661392	38626891	A A	AAAAATAT others(16): Show AAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0177 a0002c0002t0015g0177	1	328	0.0031	23	c.727 others(38): Show c.727-589_727-588insATATATATATATATATATATTTT	FAM227A	ENSG00000184949.18	transcript	ENST00000535113.7	protein_coding	8/16			chr22	TogoVar
FAM227B_chr15_49321970_49625818	49371733	T T	TGAAATAA others(16): Show TGAAATAAAATTCACTTATAAATC	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0043	1	294	0.0034	23	c.101 others(40): Show c.1013-335_1013-334insGATTTATAAGTGAATTTTATTTC	FAM227B	ENSG00000166262.16	transcript	ENST00000299338.11	protein_coding	11/15			chr15	TogoVar
FAM228B_chr2_24118469_24174638	24152536	G G	GTATTGCC others(16): Show GTATTGCCTTTGTGGACTTTGATA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	290	0.0035	23	c.686 others(40): Show c.686+5451_686+5473dupTATTGCCTTTGTGGACTTTGATA	FAM228B	ENSG00000219626.9	transcript	ENST00000615575.5	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
FAM228B_chr2_24118469_24174638	24158196	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0067 a0001c0002t0001g0067	1	290	0.0035	23	c.687 others(40): Show c.687-3293_687-3292insTTTTTTTTTTTTTTTTTTTTTTT	FAM228B	ENSG00000219626.9	transcript	ENST00000615575.5	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
FAM228B_chr2_24118469_24174638	24166054	A A	AAATATAT others(16): Show AAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02647.hp1 NA18522.hp1 others(2): Show HG02109.hp2 HG02647.hp1 NA18522.hp1 NA18971.hp1 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0081 others(2): Show a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0138 a0001c0001t0001g0171	5	290	0.0172	23	c.933 others(40): Show c.933-1572_933-1571insATATATATATATATATATATATA	FAM228B	ENSG00000219626.9	transcript	ENST00000615575.5	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
FAM228B_chr2_24118469_24174638	24166054	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	290	0.0035	23	c.933 others(40): Show c.933-1573_933-1572insTATATATATATATATATATATAT	FAM228B	ENSG00000219626.9	transcript	ENST00000615575.5	protein_coding	9/10			chr2	TogoVar
FAM229B_chr6_112082591_112107790	112097570	T T	TTGTGTAC others(16): Show TTGTGTACTAATAGTTGAAAACAC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03486.hp1 HG02886.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0056 a0001c0001t0010g0057 a0001c0001t0010g0056 a0001c0001t0010g0057	2	418	0.0048	23	c.-15 others(38): Show c.-15+391_-15+392insCTGTGTACTAATAGTTGAAAACA	FAM229B	ENSG00000203778.8	transcript	ENST00000368656.7	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM241A_chr4_112140454_112200256	112197333	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0001 a0001c0001t0013g0001	1	388	0.0026	23	c.10 others(36): Show c.10395_*10396insAAAAAAAAAAAAAAAAAAAAAAA	FAM241A	ENSG00000174749.6	transcript	ENST00000309733.6	protein_coding		2078		chr4	TogoVar
FAM3A_chrX_154501171_154521232	154519971	T T	TATATATA others(16): Show TATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0114	1	339	0.0030	23	c.-42 others(34): Show c.-4200_-4199insTATATATATATATATATATATAT	FAM3A	ENSG00000071889.17	transcript	ENST00000447601.7	protein_coding		3740		chrX	TogoVar
FAM43B_chr1_20547573_20560020	20550649	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG01358.hp1 HG02135.hp2 HG00673.hp1 HG01358.hp1 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	3	464	0.0065	23	c.-23 others(34): Show c.-2325_-2324insAAAAAAAAAAAAAAAAAAAAAAA	FAM43B	ENSG00000183114.8	transcript	ENST00000332947.6	protein_coding		1923		chr1	TogoVar
FAM47E_chr4_76246721_76288783	76282038	A A	AACATTTG others(16): Show AACATTTGTATGTAGAAGTACAGT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02896.hp2 HG02895.hp2 HG02896.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0054 a0002c0002t0001g0054	2	392	0.0051	23	c.110 others(42): Show c.1105-1319_1105-1297dupACATTTGTATGTAGAAGTACAGT	FAM47E	ENSG00000189157.14	transcript	ENST00000424749.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM53A_chr4_1634887_1689313	1656394	T T	TGGCTTGT others(16): Show TGGCTTGTGCAGTCACTGTCCAGC	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp2 HG03490.hp2 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0194 a0001c0002t0003g0199 a0001c0002t0003g0194 a0001c0002t0003g0199	2	350	0.0057	23	c.137 others(38): Show c.137-694_137-672dupGCTGGACAGTGACTGCACAAGCC	FAM53A	ENSG00000174137.14	transcript	ENST00000308132.11	protein_coding	3/4			chr4	TogoVar
FAM90A1_chr12_8216260_8232618	8226802	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0046 a0005c0005t0046	a0005c0005t0046g0194 a0005c0005t0046g0194	1	466	0.0022	23	c.-42 others(40): Show c.-420-347_-420-325dupAAAAAAAAAAAAAAAAAAAAAAA	FAM90A1	ENSG00000171847.11	transcript	ENST00000538603.6	protein_coding	1/6			chr12	TogoVar
FAM9B_chrX_9019232_9039127	9022677	T T	TTATATTA others(16): Show TTATATTATGTATAAGATATAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG03710.hp1 HG02738.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0051 a0001c0001t0001g0001 a0001c0001t0001g0051	2	258	0.0078	23	c.27 others(34): Show c.2731_*2732insTATTATATCTTATACATAATATA	FAM9B	ENSG00000177138.17	transcript	ENST00000327220.10	protein_coding		1554		chrX	TogoVar
FANCA_chr16_89732549_89821647	89771155	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0009 a0006c0007t0009	a0006c0007t0009g0314 a0006c0007t0009g0314	1	334	0.0030	23	c.215 others(40): Show c.2151+522_2152-521insTTTTTTTTTTTTTTTTTTTTTTT	FANCA	ENSG00000187741.16	transcript	ENST00000389301.8	protein_coding	23/42			chr16	TogoVar
FANCA_chr16_89732549_89821647	89812646	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0002 a0010c0011t0002	a0010c0011t0002g0010 a0010c0011t0002g0010	1	334	0.0030	23	c.284 others(40): Show c.284-1598_284-1576dupTTTTTTTTTTTTTTTTTTTTTTT	FANCA	ENSG00000187741.16	transcript	ENST00000389301.8	protein_coding	3/42			chr16	TogoVar
FANCC_chr9_95094054_95322709	95158402	G G	GCACTATG others(16): Show GCACTATGGAAGGTAAAAAGCACT	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0174 a0001c0001t0002g0174	1	278	0.0036	23	c.522 others(40): Show c.522-8316_522-8315insAGTGCTTTTTACCTTCCATAGTG	FANCC	ENSG00000158169.14	transcript	ENST00000289081.8	protein_coding	6/14			chr9	TogoVar
FANCC_chr9_95094054_95322709	95278794	A A	ATTAAGCG others(16): Show ATTAAGCGAGCATAAGTCTGAAAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(238): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00741.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp2 NA18986.hp1 NA18986.hp2 NA18991.hp2 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19003.hp1 NA19003.hp2 NA19006.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19082.hp1 NA19082.hp2 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0009	a0001c0001 a0001c0003 a0001c0005 others(7): Show a0001c0001 a0001c0003 a0001c0005 a0002c0002 a0003c0004 a0005c0007 a0006c0008 a0007c0009 a0008c0010 a0009c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(32): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0033 a0001c0003t0007 a0001c0003t0013 a0001c0005t0001 a0001c0005t0003 a0002c0002t0003 a0002c0002t0031 a0003c0004t0008 a0003c0004t0018 a0005c0007t0027 a0006c0008t0001 a0007c0009t0016 a0008c0010t0001 a0009c0011t0001	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0049 others(238): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0204 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0244 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0056 a0001c0001t0002g0063 a0001c0001t0002g0073 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0097 a0001c0001t0002g0112 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0129 a0001c0001t0002g0132 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0194 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0241 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0003g0002 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0066 a0001c0001t0003g0151 a0001c0001t0003g0164 a0001c0001t0003g0193 a0001c0001t0003g0205 a0001c0001t0003g0245 a0001c0001t0006g0229 a0001c0001t0006g0230 a0001c0001t0006g0233 a0001c0001t0006g0270 a0001c0001t0009g0126 a0001c0001t0009g0127 a0001c0001t0010g0152 a0001c0001t0010g0195 a0001c0001t0011g0260 a0001c0001t0011g0261 a0001c0001t0012g0095 a0001c0001t0012g0096 a0001c0001t0015g0232 a0001c0001t0017g0253 a0001c0001t0019g0246 a0001c0001t0020g0176 a0001c0001t0021g0172 a0001c0001t0022g0165 a0001c0001t0023g0231 a0001c0001t0024g0240 a0001c0001t0025g0108 a0001c0001t0026g0167 a0001c0001t0028g0271 a0001c0001t0029g0173 a0001c0001t0030g0250 a0001c0001t0033g0188 a0001c0003t0007g0040 a0001c0003t0007g0041 a0001c0003t0007g0051 a0001c0003t0013g0242 a0001c0003t0013g0243 a0001c0005t0001g0237 a0001c0005t0003g0234 a0001c0005t0003g0238 a0002c0002t0003g0058 a0002c0002t0003g0075 a0002c0002t0003g0076 a0002c0002t0003g0092 a0002c0002t0003g0093 a0002c0002t0003g0094 a0002c0002t0003g0113 a0002c0002t0031g0079 a0003c0004t0008g0106 a0003c0004t0008g0115 a0003c0004t0018g0107 a0005c0007t0027g0110 a0006c0008t0001g0252 a0007c0009t0016g0169 a0008c0010t0001g0071 a0009c0011t0001g0226	241	278	0.8669	23	c.-78 others(42): Show c.-78-29426_-78-29425insGTTTCAGACTTATGCTCGCTTAA	FANCC	ENSG00000158169.14	transcript	ENST00000289081.8	protein_coding	1/14			chr9	TogoVar
FANCC_chr9_95094054_95322709	95278794	A A	ATTAAGCG others(16): Show ATTAAGCGAGCGTAAGTCTGAAAC	intron_variant intron_variant	MODIFIER	HG03654.hp2 NA18940.hp2 NA18963.hp1 others(6): Show HG03654.hp2 NA18940.hp2 NA18963.hp1 NA18968.hp2 NA18977.hp1 NA18991.hp1 NA18992.hp1 NA19006.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0014 a0001c0001t0005 a0001c0001t0014	a0001c0001t0005g0004 a0001c0001t0005g0005 a0001c0001t0005g0006 others(6): Show a0001c0001t0005g0004 a0001c0001t0005g0005 a0001c0001t0005g0006 a0001c0001t0005g0007 a0001c0001t0005g0008 a0001c0001t0005g0009 a0001c0001t0005g0010 a0001c0001t0005g0011 a0001c0001t0014g0001	9	278	0.0324	23	c.-78 others(42): Show c.-78-29426_-78-29425insGTTTCAGACTTACGCTCGCTTAA	FANCC	ENSG00000158169.14	transcript	ENST00000289081.8	protein_coding	1/14			chr9	TogoVar
FANCD2_chr3_10021437_10106932	10036086	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 NA18953.hp1 NA18961.hp1 HG01081.hp1 NA18953.hp1 NA18961.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0005 a0002c0002t0002 a0002c0002t0005	a0002c0002t0002g0184 a0002c0002t0002g0196 a0002c0002t0005g0181 a0002c0002t0002g0184 a0002c0002t0002g0196 a0002c0002t0005g0181	3	242	0.0124	23	c.439 others(38): Show c.439-182_439-181insTTTTTTTTTTTTTTTTTTTTTTT	FANCD2	ENSG00000144554.13	transcript	ENST00000675286.1	protein_coding	6/43		INFO_REALIGN_3_PRIME	chr3	TogoVar
FANCI_chr15_89238979_89322131	89286977	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0099 a0001c0004t0003g0099	1	346	0.0029	23	c.182 others(42): Show c.1821+1780_1821+1781insTTTTTTTTTTTTTTTTTTTTTTT	FANCI	ENSG00000140525.20	transcript	ENST00000310775.12	protein_coding	18/37		INFO_REALIGN_3_PRIME	chr15	TogoVar
FANK1_chr10_125891564_126014592	125919195	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02109.hp1 HG02258.hp2 others(7): Show HG02080.hp2 HG02109.hp1 HG02258.hp2 HG03471.hp1 HG04184.hp2 HG04204.hp2 NA18965.hp1 NA18967.hp2 NA18979.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0068 a0001c0001t0001g0070 others(7): Show a0001c0001t0001g0062 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0099 a0001c0001t0001g0112 a0001c0001t0001g0117 a0001c0001t0001g0121 a0001c0001t0001g0131 a0001c0001t0001g0185	10	370	0.0270	23	c.13+ others(40): Show c.13+22546_13+22568dupTTTTTTTTTTTTTTTTTTTTTTT	FANK1	ENSG00000203780.12	transcript	ENST00000368693.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
FARP1_chr13_98138094_98460176	98401415	A A	ACACACAC others(16): Show ACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01071.hp2 HG01175.hp2 others(17): Show HG00280.hp2 HG01071.hp2 HG01175.hp2 HG01346.hp2 HG02056.hp2 HG02148.hp2 HG02559.hp1 HG02647.hp2 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02896.hp1 HG02897.hp1 HG02970.hp2 HG03209.hp1 HG03225.hp1 NA18992.hp2 NA19000.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0014	a0001c0001t0005 a0001c0001t0007 a0001c0001t0023 others(11): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0023 a0001c0001t0045 a0001c0001t0063 a0001c0001t0083 a0001c0002t0001 a0001c0002t0010 a0001c0002t0012 a0001c0002t0052 a0001c0002t0076 a0001c0002t0082 a0001c0003t0013 a0002c0014t0008	a0001c0001t0005g0164 a0001c0001t0007g0183 a0001c0001t0023g0003 others(17): Show a0001c0001t0005g0164 a0001c0001t0007g0183 a0001c0001t0023g0003 a0001c0001t0045g0019 a0001c0001t0063g0050 a0001c0001t0083g0169 a0001c0002t0001g0063 a0001c0002t0001g0097 a0001c0002t0001g0118 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0156 a0001c0002t0010g0210 a0001c0002t0010g0217 a0001c0002t0012g0138 a0001c0002t0052g0017 a0001c0002t0076g0037 a0001c0002t0082g0104 a0001c0003t0013g0208 a0002c0014t0008g0088	20	218	0.0917	23	c.141 others(42): Show c.1414+5939_1414+5940insCACACACACACACACACACACAC	FARP1	ENSG00000152767.17	transcript	ENST00000319562.11	protein_coding	13/26			chr13	TogoVar
FARP2_chr2_241351285_241499841	241402881	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	378	0.0027	23	c.184 others(38): Show c.184-947_184-946insATATATATATATATATATATATA	FARP2	ENSG00000006607.14	transcript	ENST00000264042.8	protein_coding	2/26			chr2	TogoVar
FARSA_chr19_12917479_12938711	12920125	A A	ACACACAC others(16): Show ACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 NA18986.hp1 HG00438.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	2	346	0.0058	23	c.26 others(34): Show c.2622_*2623insGTGTGTGTGTGTGTGTGTGTGTG	FARSA	ENSG00000179115.11	transcript	ENST00000314606.9	protein_coding		2353		chr19	TogoVar
FAT3_chr11_92219818_92901473	92229492	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0017 a0017	a0017c0080 a0017c0080	a0017c0080t0043 a0017c0080t0043	a0017c0080t0043g0084 a0017c0080t0043g0084	1	118	0.0085	23	c.-18 others(40): Show c.-18+4332_-18+4333insTTTTTTTTTTTTTTTTTTTTTTT	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92478953	T T	TTTCTTTC others(16): Show TTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02698.hp2 HG03453.hp1 others(4): Show HG01069.hp1 HG02698.hp2 HG03453.hp1 HG03471.hp1 NA18522.hp1 NA18940.hp1 NA18986.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0008 a0039	a0001c0002 a0002c0003 a0002c0031 others(4): Show a0001c0002 a0002c0003 a0002c0031 a0004c0009 a0004c0062 a0008c0044 a0039c0057	a0001c0002t0079 a0002c0003t0076 a0002c0031t0007 others(4): Show a0001c0002t0079 a0002c0003t0076 a0002c0031t0007 a0004c0009t0001 a0004c0062t0059 a0008c0044t0008 a0039c0057t0032	a0001c0002t0079g0003 a0002c0003t0076g0008 a0002c0031t0007g0030 others(4): Show a0001c0002t0079g0003 a0002c0003t0076g0008 a0002c0031t0007g0030 a0004c0009t0001g0070 a0004c0062t0059g0118 a0008c0044t0008g0096 a0039c0057t0032g0094	7	118	0.0593	23	c.329 others(44): Show c.3293-45679_3293-45678insCTTTCTTTCTTTCTTTCTTTCTT	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92486130	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0033 a0001c0035t0033	a0001c0035t0033g0068 a0001c0035t0033g0068	1	118	0.0085	23	c.329 others(44): Show c.3293-38498_3293-38476dupTTTTTTTTTTTTTTTTTTTTTTT	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92551414	T T	TTGTTTTG others(16): Show TTGTTTTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01074.hp2 NA20300.hp2 HG01074.hp2 NA20300.hp2	a0037 a0038 a0037 a0038	a0037c0059 a0038c0058 a0037c0059 a0038c0058	a0037c0059t0087 a0038c0058t0044 a0037c0059t0087 a0038c0058t0044	a0037c0059t0087g0015 a0038c0058t0044g0082 a0037c0059t0087g0015 a0038c0058t0044g0082	2	118	0.0170	23	c.360 others(44): Show c.3607+26469_3607+26470insTTTGTGTGTGTGTGTGTGTGTGT	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92583866	A A	ATTCTCTC others(16): Show ATTCTCTCGTATTAAATAATTCTC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0009 a0009	a0009c0007 a0009c0007	a0009c0007t0004 a0009c0007t0004	a0009c0007t0004g0071 a0009c0007t0004g0071	1	118	0.0085	23	c.360 others(44): Show c.3607+58918_3607+58919insTTCTCTCGTATTAAATAATTCTC	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	3/27			chr11	TogoVar
FAT3_chr11_92219818_92901473	92754627	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02615.hp1 HG02080.hp2 HG02615.hp1	a0004 a0015 a0004 a0015	a0004c0012 a0015c0075 a0004c0012 a0015c0075	a0004c0012t0004 a0015c0075t0062 a0004c0012t0004 a0015c0075t0062	a0004c0012t0004g0044 a0015c0075t0062g0102 a0004c0012t0004g0044 a0015c0075t0062g0102	2	118	0.0170	23	c.367 others(42): Show c.3670-7211_3670-7210insAAAAAAAAAAAAAAAAAAAAAAA	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAT3_chr11_92219818_92901473	92878634	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0006 a0006	a0006c0077 a0006c0077	a0006c0077t0012 a0006c0077t0012	a0006c0077t0012g0081 a0006c0077t0012g0081	1	118	0.0085	23	c.121 others(44): Show c.12128-2086_12128-2064dupAAAAAAAAAAAAAAAAAAAAAAA	FAT3	ENSG00000165323.16	transcript	ENST00000525166.6	protein_coding	22/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAXDC2_chr5_154813492_154855603	154825650	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01074.hp2 HG01993.hp1 others(8): Show HG00621.hp2 HG01074.hp2 HG01993.hp1 HG02155.hp2 HG02572.hp2 HG02970.hp2 HG03710.hp1 NA18959.hp1 NA18978.hp1 NA19085.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0155 others(8): Show a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0155 a0001c0001t0001g0176 a0001c0001t0001g0187 a0001c0001t0001g0195 a0001c0001t0001g0203 a0001c0001t0001g0210 a0001c0001t0001g0242 a0001c0001t0001g0245 a0001c0001t0014g0177	11	310	0.0355	23	c.367 others(40): Show c.367-2059_367-2058insTTTTTTTTTTTTTTTTTTTTTTT	FAXDC2	ENSG00000170271.11	transcript	ENST00000326080.10	protein_coding	5/8			chr5	TogoVar
FAXDC2_chr5_154813492_154855603	154835883	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02300.hp1 HG02080.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0257 a0001c0001t0002g0270 a0001c0001t0002g0257 a0001c0001t0002g0270	2	310	0.0065	23	c.49- others(36): Show c.49-972_49-950dupAAAAAAAAAAAAAAAAAAAAAAA	FAXDC2	ENSG00000170271.11	transcript	ENST00000326080.10	protein_coding	2/8			chr5	TogoVar
FBF1_chr17_75904574_75946042	75907506	G G	GTATTTTT others(16): Show GTATTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02922.hp2 HG03225.hp2 HG02145.hp1 HG02922.hp2 HG03225.hp2	a0008 a0014 a0008 a0014	a0008c0018 a0014c0025 a0008c0018 a0014c0025	a0008c0018t0001 a0014c0025t0011 a0008c0018t0001 a0014c0025t0011	a0008c0018t0001g0057 a0008c0018t0001g0119 a0014c0025t0011g0245 a0008c0018t0001g0057 a0008c0018t0001g0119 a0014c0025t0011g0245	3	318	0.0094	23	c.32 others(34): Show c.3216_*3217insAAAAAAAAAAAAAAAAAAAAATA	FBF1	ENSG00000188878.20	transcript	ENST00000636174.2	protein_coding		2067		chr17	TogoVar
FBLN1_chr22_45497883_45606135	45602817	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0152 a0001c0002t0001g0152	1	346	0.0029	23	c.23 others(34): Show c.2371_*2372insAAAAAAAAAAAAAAAAAAAAAAA	FBLN1	ENSG00000077942.19	transcript	ENST00000327858.11	protein_coding		1683		chr22	TogoVar
FBLN2_chr3_13544125_13643404	13612340	T T	TTTCTTTC others(16): Show TTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG04204.hp2 HG03195.hp1 HG04204.hp2	a0002 a0005 a0002 a0005	a0002c0029 a0005c0018 a0002c0029 a0005c0018	a0002c0029t0005 a0005c0018t0009 a0002c0029t0005 a0005c0018t0009	a0002c0029t0005g0192 a0005c0018t0009g0012 a0002c0029t0005g0192 a0005c0018t0009g0012	2	312	0.0064	23	c.154 others(42): Show c.1549-1642_1549-1641insCTTTCTTTCTTTCTTTCTTTCTT	FBLN2	ENSG00000163520.14	transcript	ENST00000404922.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
FBLN2_chr3_13544125_13643404	13633954	A A	ACACACAC others(16): Show ACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG03490.hp1 NA18983.hp2 HG00438.hp1 HG03490.hp1 NA18983.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0001c0005 a0002c0001 a0001c0004 a0001c0005 a0002c0001	a0001c0004t0001 a0001c0005t0003 a0002c0001t0002 a0001c0004t0001 a0001c0005t0003 a0002c0001t0002	a0001c0004t0001g0233 a0001c0005t0003g0050 a0002c0001t0002g0113 a0001c0004t0001g0233 a0001c0005t0003g0050 a0002c0001t0002g0113	3	312	0.0096	23	c.321 others(42): Show c.3215-2491_3215-2490insCACACACACACACACACACACAC	FBLN2	ENSG00000163520.14	transcript	ENST00000404922.8	protein_coding	16/17			chr3	TogoVar
FBLN7_chr2_112133385_112193218	112134887	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00741.hp2 others(33): Show HG00099.hp2 HG00140.hp2 HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01169.hp1 HG01257.hp1 HG01258.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG02080.hp1 HG02451.hp1 HG02523.hp2 HG02698.hp2 HG02735.hp1 HG02895.hp1 HG02965.hp1 HG03239.hp2 HG03491.hp1 HG04115.hp2 NA18522.hp1 NA18939.hp2 NA18941.hp2 NA18947.hp1 NA18954.hp1 NA18956.hp1 NA18975.hp2 NA18984.hp2 NA19068.hp1 NA19074.hp1 NA20752.hp2 NA20805.hp2	a0001 a0004 a0006 others(1): Show a0001 a0004 a0006 a0007	a0001c0001 a0004c0004 a0006c0010 others(1): Show a0001c0001 a0004c0004 a0006c0010 a0007c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0004c0004t0002 a0006c0010t0001 a0007c0011t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0021 others(30): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0021 a0001c0001t0001g0183 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0233 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0245 a0001c0001t0002g0195 a0001c0001t0003g0200 a0001c0001t0003g0231 a0004c0004t0002g0020 a0006c0010t0001g0223 a0007c0011t0001g0205	36	346	0.1041	23	c.-37 others(34): Show c.-3769_-3768insTTTTTTTTTTTTTTTTTTTTTTT	FBLN7	ENSG00000144152.13	transcript	ENST00000331203.7	protein_coding		3497		chr2	TogoVar
FBN1_chr15_48403313_48650709	48417469	T T	TTCCTTCC others(16): Show TTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18975.hp1 NA18982.hp2 others(2): Show NA18963.hp2 NA18975.hp1 NA18982.hp2 NA19000.hp1 NA19002.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0049 a0001c0004t0004g0059 a0001c0004t0004g0060 others(2): Show a0001c0004t0004g0049 a0001c0004t0004g0059 a0001c0004t0004g0060 a0001c0004t0004g0138 a0001c0004t0004g0287	5	288	0.0174	23	c.782 others(42): Show c.7820-1703_7820-1702insGGAAGGAAGGAAGGAAGGAAGGA	FBN1	ENSG00000166147.15	transcript	ENST00000316623.10	protein_coding	63/65			chr15	TogoVar

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