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
FAM13A_chr4_88720960_89062185	88945990	G G	GTGTGTGT others(21): Show GTGTGTGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0006 a0005c0014t0006	a0005c0014t0006g0201 a0005c0014t0006g0201	1	208	0.0048	28	c.606 others(45): Show c.606-7750_606-7749insTATATATATATATATATATACACACACA	FAM13A	ENSG00000138640.15	transcript	ENST00000264344.10	protein_coding	4/23			chr4	TogoVar
FAM13A_chr4_88720960_89062185	88945990	G G	GTGTGTGT others(21): Show GTGTGTGTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02280.hp2 HG02055.hp2 HG02280.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0004 a0001c0005 a0002c0004	a0001c0005t0019 a0002c0004t0021 a0001c0005t0019 a0002c0004t0021	a0001c0005t0019g0204 a0002c0004t0021g0205 a0001c0005t0019g0204 a0002c0004t0021g0205	2	208	0.0096	28	c.606 others(45): Show c.606-7750_606-7749insTATATATATATATATATACACACACACA	FAM13A	ENSG00000138640.15	transcript	ENST00000264344.10	protein_coding	4/23			chr4	TogoVar
FAM13A_chr4_88720960_89062185	89061609	T T	TTTTTTTT others(21): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0161 a0002c0002t0006g0161	1	208	0.0048	28	c.-46 others(39): Show c.-4646_-4645insCAAAAAAAAAAAAAAAAAAAAAAAAAAA	FAM13A	ENSG00000138640.15	transcript	ENST00000264344.10	protein_coding		4425		chr4	TogoVar
FAM13C_chr10_59241133_59367549	59286516	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	204	0.0049	28	c.508 others(45): Show c.508-3070_508-3069insATATATATATATATATATATATATATAT	FAM13C	ENSG00000148541.13	transcript	ENST00000618804.5	protein_coding	5/13			chr10	TogoVar
FAM149A_chr4_186099704_186180337	186104741	C C	CGCGGGCG others(21): Show CGCGGGCGGCGGGCGGCGGGCGGCGGGCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02055.hp2 HG03130.hp1 HG02055.hp2 HG03130.hp1	a0002 a0002	a0002c0004 a0002c0007 a0002c0004 a0002c0007	a0002c0004t0042 a0002c0007t0043 a0002c0004t0042 a0002c0007t0043	a0002c0004t0042g0307 a0002c0007t0043g0281 a0002c0004t0042g0307 a0002c0007t0043g0281	2	390	0.0051	28	c.-33 others(37): Show c.-335_-308dupGCGGGCGGCGGGCGGCGGGCGGCGGGCG	FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding	1/14	307	INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM149A_chr4_186099704_186180337	186130293	C C	CTCTCTAT others(21): Show CTCTCTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03195.hp2 NA18522.hp2 others(1): Show HG02965.hp2 HG03195.hp2 NA18522.hp2 NA19030.hp2	a0002 a0008 a0020 a0002 a0008 a0020	a0002c0004 a0008c0013 a0020c0043 a0002c0004 a0008c0013 a0020c0043	a0002c0004t0083 a0008c0013t0014 a0020c0043t0036 a0002c0004t0083 a0008c0013t0014 a0020c0043t0036	a0002c0004t0083g0146 a0008c0013t0014g0144 a0008c0013t0014g0145 others(1): Show a0002c0004t0083g0146 a0008c0013t0014g0144 a0008c0013t0014g0145 a0020c0043t0036g0141	4	390	0.0103	28	c.567 others(47): Show c.567-18879_567-18878insCTCTATATATATATATATATATATAT AT	FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM149A_chr4_186099704_186180337	186130293	C C	CTCTCTCT others(21): Show CTCTCTCTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01258.hp1 HG02572.hp2 HG01099.hp1 HG01258.hp1 HG02572.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0002c0007 a0001c0001 a0002c0004 a0002c0007	a0001c0001t0020 a0002c0004t0001 a0002c0007t0052 a0001c0001t0020 a0002c0004t0001 a0002c0007t0052	a0001c0001t0020g0147 a0002c0004t0001g0311 a0002c0007t0052g0282 a0001c0001t0020g0147 a0002c0004t0001g0311 a0002c0007t0052g0282	3	390	0.0077	28	c.567 others(47): Show c.567-18879_567-18878insCTCTCTATATATATATATATATATAT AT	FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM149A_chr4_186099704_186180337	186130293	C C	CTCTCTCT others(21): Show CTCTCTCTCTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0043 a0002c0007t0043	a0002c0007t0043g0281 a0002c0007t0043g0281	1	390	0.0026	28	c.567 others(47): Show c.567-18879_567-18878insCTCTCTCTATATATATATATATATAT AT	FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM149A_chr4_186099704_186180337	186130293	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA19090.hp1 HG03130.hp2 NA19090.hp1	a0001 a0024 a0001 a0024	a0001c0001 a0024c0039 a0001c0001 a0024c0039	a0001c0001t0001 a0024c0039t0032 a0001c0001t0001 a0024c0039t0032	a0001c0001t0001g0063 a0024c0039t0032g0025 a0001c0001t0001g0063 a0024c0039t0032g0025	2	390	0.0051	28	c.567 others(47): Show c.567-18879_567-18878insCTCTCTCTCTATATATATATATATAT AT	FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM149A_chr4_186099704_186180337	186130293	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA19084.hp1 NA18950.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0116 a0001c0001t0001g0117	2	390	0.0051	28	c.567 others(47): Show c.567-18879_567-18878insCTCTCTCTCTCTATATATATATATAT AT	FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM149A_chr4_186099704_186180337	186130293	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTATATATATATATA	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA18967.hp2 HG03471.hp1 NA18967.hp2	a0003 a0010 a0003 a0010	a0003c0002 a0010c0019 a0003c0002 a0010c0019	a0003c0002t0002 a0010c0019t0009 a0003c0002t0002 a0010c0019t0009	a0003c0002t0002g0298 a0010c0019t0009g0289 a0003c0002t0002g0298 a0010c0019t0009g0289	2	390	0.0051	28	c.567 others(47): Show c.567-18879_567-18878insCTCTCTCTCTCTCTATATATATATAT AT	FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM149A_chr4_186099704_186180337	186130293	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA18522.hp1 NA18951.hp2 others(2): Show HG02630.hp2 NA18522.hp1 NA18951.hp2 NA19065.hp2 NA19070.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0010 a0016	a0001c0001 a0003c0002 a0004c0008 others(2): Show a0001c0001 a0003c0002 a0004c0008 a0010c0038 a0016c0028	a0001c0001t0002 a0003c0002t0004 a0004c0008t0006 others(2): Show a0001c0001t0002 a0003c0002t0004 a0004c0008t0006 a0010c0038t0031 a0016c0028t0035	a0001c0001t0002g0133 a0003c0002t0004g0341 a0004c0008t0006g0159 others(2): Show a0001c0001t0002g0133 a0003c0002t0004g0341 a0004c0008t0006g0159 a0010c0038t0031g0027 a0016c0028t0035g0283	5	390	0.0128	28	c.567 others(47): Show c.567-18879_567-18878insCTCTCTCTCTCTCTCTATATATATAT AT	FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM149A_chr4_186099704_186180337	186130293	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTCTCTCTATATATA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0010 a0010	a0010c0019 a0010c0019	a0010c0019t0009 a0010c0019t0009	a0010c0019t0009g0290 a0010c0019t0009g0290	1	390	0.0026	28	c.567 others(47): Show c.567-18879_567-18878insCTCTCTCTCTCTCTCTCTCTATATAT AT	FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM149A_chr4_186099704_186180337	186130293	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTCTCTCTCTATATA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0099 a0001c0001t0002g0099	1	390	0.0026	28	c.567 others(47): Show c.567-18879_567-18878insCTCTCTCTCTCTCTCTCTCTCTATAT AT	FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM149A_chr4_186099704_186180337	186136958	C C	CTCTCTCT others(21): Show CTCTCTCTTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0012 a0012	a0012c0024 a0012c0024	a0012c0024t0033 a0012c0024t0033	a0012c0024t0033g0277 a0012c0024t0033g0277	1	390	0.0026	28	c.567 others(47): Show c.567-12210_567-12209insCTTCTCTCTCTCTCTCTCTCTCTTCT CT	FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM149A_chr4_186099704_186180337	186136994	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTCTTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0023 a0002c0004t0023	a0002c0004t0023g0297 a0002c0004t0023g0297	1	390	0.0026	28	c.567 others(47): Show c.567-12162_567-12161insTCTCTCTCTCTTCTCTCTCTCTCTCT CT	FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM151B_chr5_80483100_80547563	80538448	C C	CTTTCTTT others(21): Show CTTTCTTTCTTTCTTTCTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0023 a0002c0002t0001g0023	1	356	0.0028	28	c.672 others(45): Show c.672-3224_672-3223insTTCTTTCTTTCTTTCTCTTTCTTTCTTT	FAM151B	ENSG00000152380.10	transcript	ENST00000282226.5	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
FAM161A_chr2_61819848_61859060	61823362	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp2 HG02074.hp2 HG02976.hp1 others(4): Show HG01258.hp2 HG02074.hp2 HG02976.hp1 HG04115.hp2 NA18970.hp2 NA18973.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0220 a0001c0001t0002g0253 a0002c0002t0002g0016 others(3): Show a0001c0001t0002g0220 a0001c0001t0002g0253 a0002c0002t0002g0016 a0002c0002t0002g0043 a0002c0002t0002g0226 a0002c0002t0002g0236	7	400	0.0175	28	c.30 others(39): Show c.3092_*3093insATATATATATATATATATATATATATAT	FAM161A	ENSG00000170264.13	transcript	ENST00000404929.6	protein_coding		1485		chr2	TogoVar
FAM161A_chr2_61819848_61859060	61849010	A A	ATATATTT others(21): Show ATATATTTATATATATTTATATATATTTT	intron_variant intron_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0111	1	400	0.0025	28	c.183 others(45): Show c.183+4848_183+4849insAAAATATATATAAATATATATAAATATA	FAM161A	ENSG00000170264.13	transcript	ENST00000404929.6	protein_coding	1/6			chr2	TogoVar
FAM162B_chr6_116747197_116770719	116752711	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02129.hp1 HG02886.hp2 HG01243.hp1 HG02129.hp1 HG02886.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0137 a0001c0001t0001g0163 a0002c0002t0001g0274 a0001c0001t0001g0137 a0001c0001t0001g0163 a0002c0002t0001g0274	3	474	0.0063	28	c.391 others(41): Show c.391-17_391-16insATATATATATATATATATATATATATAT	FAM162B	ENSG00000183807.8	transcript	ENST00000368557.6	protein_coding	3/3			chr6	TogoVar
FAM168A_chr11_73395487_73603112	73426703	C C	CTGTGTGT others(21): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0004 a0001c0001t0010g0004	1	180	0.0056	28	c.151 others(45): Show c.151+3959_151+3986dupCACACACACACACACACACACACACACA	FAM168A	ENSG00000054965.11	transcript	ENST00000356467.5	protein_coding	3/7			chr11	TogoVar
FAM171A2_chr17_44348215_44368853	44357730	C C	CGTGTGTG others(21): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00738.hp1 NA18987.hp2 NA19004.hp1 others(1): Show HG00738.hp1 NA18987.hp2 NA19004.hp1 NA19077.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0088 a0002c0003t0001g0037 a0002c0003t0001g0094 a0001c0001t0001g0088 a0002c0003t0001g0037 a0002c0003t0001g0094	4	416	0.0096	28	c.440 others(45): Show c.440-1170_440-1143dupACACACACACACACACACACACACACAC	FAM171A2	ENSG00000161682.15	transcript	ENST00000293443.12	protein_coding	3/7			chr17	TogoVar
FAM171A2_chr17_44348215_44368853	44368119	A A	AATATATA others(21): Show AATATATATATATATATATATATAAATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp1 NA18954.hp1 NA19062.hp2 others(3): Show HG01978.hp1 NA18954.hp1 NA19062.hp2 NA19068.hp2 NA19081.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	6	416	0.0144	28	c.-44 others(39): Show c.-4406_-4405insATATTTATATATATATATATATATATAT	FAM171A2	ENSG00000161682.15	transcript	ENST00000293443.12	protein_coding		4267		chr17	TogoVar
FAM174B_chr15_92612448_92660775	92630855	G G	GTTACATA others(21): Show GTTACATATTACATATTATATATTACGTA	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA19007.hp2 NA19010.hp2 NA18973.hp1 NA19007.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007	a0001c0001t0002g0146 a0001c0001t0003g0139 a0001c0001t0007g0145 a0001c0001t0002g0146 a0001c0001t0003g0139 a0001c0001t0007g0145	3	394	0.0076	28	c.345 others(43): Show c.345-511_345-510insTACGTAATATATAATATGTAATATGTAA	FAM174B	ENSG00000185442.13	transcript	ENST00000327355.6	protein_coding	1/2			chr15	TogoVar
FAM174B_chr15_92612448_92660775	92630978	T T	TATATTAC others(21): Show TATATTACATATTACGTATTACATATTAC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0097 a0001c0001t0012g0097	1	394	0.0025	28	c.345 others(43): Show c.345-634_345-633insGTAATATGTAATACGTAATATGTAATAT	FAM174B	ENSG00000185442.13	transcript	ENST00000327355.6	protein_coding	1/2			chr15	TogoVar
FAM174B_chr15_92612448_92660775	92631242	T T	TTATATAT others(21): Show TTATATATAATATATTATATATTATATTA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02698.hp1 HG02735.hp2 HG00741.hp2 HG02698.hp1 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0003 a0001c0001t0019 a0001c0008t0001 a0001c0001t0003 a0001c0001t0019 a0001c0008t0001	a0001c0001t0003g0060 a0001c0001t0019g0061 a0001c0008t0001g0011 a0001c0001t0003g0060 a0001c0001t0019g0061 a0001c0008t0001g0011	3	394	0.0076	28	c.345 others(43): Show c.345-898_345-897insTAATATAATATATAATATATTATATATA	FAM174B	ENSG00000185442.13	transcript	ENST00000327355.6	protein_coding	1/2			chr15	TogoVar
FAM181B_chr11_82724940_82738864	82728870	T T	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG00673.hp1 HG02083.hp1 others(16): Show HG00621.hp2 HG00673.hp1 HG02083.hp1 HG02148.hp1 HG04115.hp2 NA18747.hp2 NA18944.hp1 NA18961.hp1 NA18975.hp2 NA18979.hp1 NA18980.hp2 NA18986.hp2 NA18989.hp2 NA18993.hp2 NA19056.hp2 NA19063.hp1 NA19066.hp2 NA19067.hp2 NA19074.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0002c0006 a0005c0007 a0002c0002 a0002c0006 a0005c0007	a0002c0002t0001 a0002c0002t0011 a0002c0006t0001 others(1): Show a0002c0002t0001 a0002c0002t0011 a0002c0006t0001 a0005c0007t0001	a0002c0002t0001g0000 a0002c0002t0011g0000 a0002c0006t0001g0000 others(1): Show a0002c0002t0001g0000 a0002c0002t0011g0000 a0002c0006t0001g0000 a0005c0007t0001g0000	19	426	0.0446	28	c.35 others(39): Show c.3578_*3579insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	FAM181B	ENSG00000182103.5	transcript	ENST00000329203.5	protein_coding		1069		chr11	TogoVar
FAM184A_chr6_118954763_119083664	118969993	A A	ATAAAATA others(21): Show ATAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0032 a0001c0001t0006g0032	1	286	0.0035	28	c.291 others(47): Show c.2916-3042_2916-3041insATATATATATATATATATATATATTT TA	FAM184A	ENSG00000111879.20	transcript	ENST00000338891.12	protein_coding	14/17			chr6	TogoVar
FAM184A_chr6_118954763_119083664	118970008	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	286	0.0035	28	c.291 others(47): Show c.2916-3057_2916-3056insAAAATATATATATATATATATATATA TA	FAM184A	ENSG00000111879.20	transcript	ENST00000338891.12	protein_coding	14/17			chr6	TogoVar
FAM184A_chr6_118954763_119083664	118970008	A A	ATATATAT others(21): Show ATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	286	0.0035	28	c.291 others(47): Show c.2916-3057_2916-3056insAAAAAAAATATATATATATATATATA TA	FAM184A	ENSG00000111879.20	transcript	ENST00000338891.12	protein_coding	14/17			chr6	TogoVar
FAM184B_chr4_17624306_17786621	17721383	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0016 a0016	a0016c0025 a0016c0025	a0016c0025t0021 a0016c0025t0021	a0016c0025t0021g0224 a0016c0025t0021g0224	1	238	0.0042	28	c.142 others(47): Show c.142-11740_142-11739insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	FAM184B	ENSG00000047662.5	transcript	ENST00000265018.4	protein_coding	1/17			chr4	TogoVar
FAM185A_chr7_102743999_102814225	102776099	T T	TACACACA others(21): Show TACACACACACACACACACACACATATAC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0259 a0001c0001t0004g0259	1	380	0.0026	28	c.836 others(45): Show c.836-1137_836-1136insCACACATATACACACACACACACACACA	FAM185A	ENSG00000222011.9	transcript	ENST00000413034.3	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
FAM185A_chr7_102743999_102814225	102776099	T T	TACACACA others(21): Show TACACACACACACACACACACATATACAC	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA18522.hp1 HG03579.hp1 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0004 a0002c0002t0001 a0002c0002t0004	a0002c0002t0001g0234 a0002c0002t0004g0235 a0002c0002t0001g0234 a0002c0002t0004g0235	2	380	0.0053	28	c.836 others(45): Show c.836-1137_836-1136insCACATATACACACACACACACACACACA	FAM185A	ENSG00000222011.9	transcript	ENST00000413034.3	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
FAM185A_chr7_102743999_102814225	102776099	T T	TACACACA others(21): Show TACACACACACACACACACATATACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00597.hp1 others(49): Show HG00140.hp1 HG00408.hp1 HG00597.hp1 HG01109.hp1 HG01515.hp1 HG01516.hp1 HG01934.hp1 HG01943.hp2 HG01981.hp2 HG02015.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02148.hp1 HG02602.hp2 HG02647.hp2 HG02698.hp1 HG02896.hp2 HG02897.hp2 HG03239.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG06807.hp1 HG06807.hp2 NA18941.hp1 NA18945.hp2 NA18951.hp1 NA18952.hp1 NA18960.hp2 NA18961.hp2 NA18965.hp2 NA18966.hp1 NA18969.hp1 NA18972.hp1 NA18982.hp1 NA18983.hp1 NA18987.hp1 NA18990.hp2 NA18999.hp1 NA19001.hp2 NA19007.hp2 NA19009.hp2 NA19065.hp1 NA19072.hp2 NA19078.hp2 NA19084.hp2 NA19087.hp2 NA19090.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0002c0002t0001 a0004c0004t0001 a0001c0001t0001 a0002c0002t0001 a0004c0004t0001	a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0084 others(46): Show a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0084 a0001c0001t0001g0092 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0132 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0247 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0277 a0001c0001t0001g0319 a0001c0001t0001g0320 a0002c0002t0001g0010 a0002c0002t0001g0024 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0220 a0002c0002t0001g0221 a0002c0002t0001g0222 a0002c0002t0001g0223 a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0233 a0002c0002t0001g0238 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0242 a0002c0002t0001g0243 a0002c0002t0001g0244 a0002c0002t0001g0245 a0004c0004t0001g0291 a0004c0004t0001g0293	52	380	0.1368	28	c.836 others(45): Show c.836-1137_836-1136insCATATACACACACACACACACACACACA	FAM185A	ENSG00000222011.9	transcript	ENST00000413034.3	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
FAM185A_chr7_102743999_102814225	102776111	C C	CACACACA others(21): Show CACACACATATACACACACACACACACAG	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0292 a0004c0004t0001g0292	1	380	0.0026	28	c.836 others(45): Show c.836-1137_836-1136insCATATACACACACACACACACAGACACA	FAM185A	ENSG00000222011.9	transcript	ENST00000413034.3	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
FAM186A_chr12_50322309_50401609	50346215	G G	GAGAGAGA others(21): Show GAGAGAGAAGGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0118 a0002c0011t0001g0118	1	332	0.0030	28	c.650 others(47): Show c.6503+4113_6503+4114insTTCTTTCTTTCTTTCTTTCCTTCTCT CT	FAM186A	ENSG00000185958.10	transcript	ENST00000327337.6	protein_coding	4/7			chr12	TogoVar
FAM186A_chr12_50322309_50401609	50346215	G G	GAGAGAGA others(21): Show GAGAGAGAGAGAAGGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01123.hp1 HG01934.hp1 others(8): Show HG00642.hp1 HG01123.hp1 HG01934.hp1 HG03239.hp1 NA18612.hp2 NA18906.hp2 NA18964.hp2 NA18988.hp1 NA18993.hp1 NA19058.hp1 NA19065.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0017 a0022	a0001c0001 a0002c0010 a0003c0003 others(2): Show a0001c0001 a0002c0010 a0003c0003 a0017c0043 a0022c0029	a0001c0001t0001 a0002c0010t0001 a0003c0003t0001 others(2): Show a0001c0001t0001 a0002c0010t0001 a0003c0003t0001 a0017c0043t0001 a0022c0029t0001	a0001c0001t0001g0032 a0001c0001t0001g0057 a0001c0001t0001g0075 others(8): Show a0001c0001t0001g0032 a0001c0001t0001g0057 a0001c0001t0001g0075 a0001c0001t0001g0105 a0001c0001t0001g0271 a0001c0001t0001g0307 a0002c0010t0001g0147 a0003c0003t0001g0212 a0003c0003t0001g0311 a0017c0043t0001g0306 a0022c0029t0001g0201	11	332	0.0331	28	c.650 others(47): Show c.6503+4113_6503+4114insTTCTTTCTTTCTTTCCTTCTCTCTCT CT	FAM186A	ENSG00000185958.10	transcript	ENST00000327337.6	protein_coding	4/7			chr12	TogoVar
FAM193A_chr4_2531647_2737573	2617262	A A	ATATATAT others(21): Show ATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0004 a0005c0005t0004	a0005c0005t0004g0130 a0005c0005t0004g0130	1	330	0.0030	28	c.502 others(45): Show c.502-7999_502-7998insATATATATATATTTTTTTTTTTTTTTTT	FAM193A	ENSG00000125386.16	transcript	ENST00000637812.2	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM193B_chr5_177514789_177559563	177554905	G G	GGTACGGA others(21): Show GGTACGGATCATTCCCATTTTGCAGGTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0255 a0001c0001t0051g0255	1	370	0.0027	28	c.-44 others(37): Show c.-448_-447insTCACCTGCAAAATGGGAATGATCCGTAC	FAM193B	ENSG00000146067.17	transcript	ENST00000514747.6	protein_coding		343		chr5	TogoVar
FAM200A_chr7_99541300_99557114	99553068	C C	CATATATA others(21): Show CATATATATATATACACACATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG02523.hp1 NA18970.hp2 others(1): Show HG01099.hp1 HG02523.hp1 NA18970.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0002 a0001c0001t0001g0013	4	378	0.0106	28	c.-13 others(39): Show c.-1315_-1314insATATATATATGTGTGTATATATATATAT	FAM200A	ENSG00000221909.3	transcript	ENST00000449309.2	protein_coding		955		chr7	TogoVar
FAM20A_chr17_68530116_68606367	68553889	T T	TACACATA others(21): Show TACACATATATGCATATATACATATATAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00558.hp2 HG00597.hp2 others(17): Show HG00140.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG01255.hp2 HG01256.hp2 HG01433.hp1 HG01496.hp1 HG01517.hp2 HG02083.hp1 HG02083.hp2 HG02148.hp2 HG02683.hp1 HG02735.hp2 HG03017.hp1 NA18945.hp1 NA18983.hp2 NA18984.hp2 NA18987.hp2 NA19005.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0002c0003 others(2): Show a0001c0001 a0001c0004 a0002c0003 a0002c0010 a0003c0006	a0001c0001t0001 a0001c0001t0003 a0001c0004t0003 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0004t0003 a0002c0003t0001 a0002c0010t0001 a0003c0006t0001	a0001c0001t0001g0142 a0001c0001t0001g0163 a0001c0001t0001g0166 others(17): Show a0001c0001t0001g0142 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0003g0308 a0001c0004t0003g0031 a0002c0003t0001g0181 a0002c0003t0001g0211 a0002c0003t0001g0264 a0002c0003t0001g0360 a0002c0010t0001g0049 a0003c0006t0001g0141 a0003c0006t0001g0164 a0003c0006t0001g0204 a0003c0006t0001g0232 a0003c0006t0001g0236 a0003c0006t0001g0249 a0003c0006t0001g0258 a0003c0006t0001g0277 a0003c0006t0001g0347 a0003c0006t0001g0348	20	380	0.0526	28	c.640 others(43): Show c.640+860_640+887dupGTATATATGTATATATGCATATATGTGT	FAM20A	ENSG00000108950.12	transcript	ENST00000592554.2	protein_coding	3/10			chr17	TogoVar
FAM20A_chr17_68530116_68606367	68572001	T T	TATATAAT others(21): Show TATATAATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0198 a0002c0002t0001g0198	1	380	0.0026	28	c.405 others(47): Show c.405-16259_405-16258insTATATATATATATATATATATATTAT AT	FAM20A	ENSG00000108950.12	transcript	ENST00000592554.2	protein_coding	1/10			chr17	TogoVar
FAM20A_chr17_68530116_68606367	68575791	T T	TACACACA others(21): Show TACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02523.hp1 NA18959.hp1 HG02293.hp1 HG02523.hp1 NA18959.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0007 a0002c0014 a0001c0005 a0002c0007 a0002c0014	a0001c0005t0002 a0002c0007t0001 a0002c0014t0001 a0001c0005t0002 a0002c0007t0001 a0002c0014t0001	a0001c0005t0002g0106 a0002c0007t0001g0094 a0002c0014t0001g0114 a0001c0005t0002g0106 a0002c0007t0001g0094 a0002c0014t0001g0114	3	380	0.0079	28	c.405 others(47): Show c.405-20076_405-20049dupGTGTGTGTGTGTGTGTGTGTGTGTGT GT	FAM20A	ENSG00000108950.12	transcript	ENST00000592554.2	protein_coding	1/10			chr17	TogoVar
FAM20A_chr17_68530116_68606367	68581350	T T	TTTTCTTT others(21): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01496.hp1 HG01496.hp2 others(11): Show HG00738.hp1 HG01496.hp1 HG01496.hp2 HG02155.hp2 HG02300.hp1 HG03139.hp1 HG03654.hp1 HG03704.hp1 HG04199.hp2 NA18953.hp2 NA18971.hp1 NA18987.hp2 NA18989.hp2 NA19063.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0002c0002 others(4): Show a0001c0001 a0001c0004 a0002c0002 a0002c0003 a0002c0008 a0002c0010 a0003c0006	a0001c0001t0002 a0001c0001t0006 a0001c0004t0002 others(7): Show a0001c0001t0002 a0001c0001t0006 a0001c0004t0002 a0001c0004t0004 a0002c0002t0001 a0002c0002t0019 a0002c0003t0001 a0002c0008t0001 a0002c0010t0001 a0003c0006t0001	a0001c0001t0002g0186 a0001c0001t0002g0327 a0001c0001t0006g0209 others(11): Show a0001c0001t0002g0186 a0001c0001t0002g0327 a0001c0001t0006g0209 a0001c0004t0002g0014 a0001c0004t0004g0027 a0002c0002t0001g0170 a0002c0002t0001g0178 a0002c0002t0001g0306 a0002c0002t0019g0297 a0002c0003t0001g0303 a0002c0008t0001g0015 a0002c0008t0001g0039 a0002c0010t0001g0049 a0003c0006t0001g0347	14	380	0.0368	28	c.404 others(47): Show c.404+18885_404+18912dupGAAAGAAAGAAAGAAAGAAAGAAAGA AA	FAM20A	ENSG00000108950.12	transcript	ENST00000592554.2	protein_coding	1/10			chr17	TogoVar
FAM210A_chr18_13658347_13731558	13665381	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0105 a0001c0001t0042g0105	1	326	0.0031	28	c.10 others(39): Show c.1098_*1099insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	FAM210A	ENSG00000177150.13	transcript	ENST00000651643.1	protein_coding	4/4	1098		chr18	TogoVar
FAM222B_chr17_28750980_28847790	28778719	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19090.hp2 NA19085.hp2 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0003 a0001c0002t0002 a0001c0002t0003	a0001c0002t0002g0171 a0001c0002t0003g0240 a0001c0002t0002g0171 a0001c0002t0003g0240	2	276	0.0073	28	c.-40 others(47): Show c.-40-12013_-40-12012insAATATATATATATATATATATATATA TA	FAM222B	ENSG00000173065.14	transcript	ENST00000581407.6	protein_coding	1/2			chr17	TogoVar
FAM222B_chr17_28750980_28847790	28778719	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02148.hp2 NA18967.hp1 others(2): Show HG00544.hp2 HG02148.hp2 NA18967.hp1 NA19012.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0006 a0001c0002t0002 a0001c0002t0006	a0001c0002t0002g0163 a0001c0002t0002g0175 a0001c0002t0002g0188 others(2): Show a0001c0002t0002g0163 a0001c0002t0002g0175 a0001c0002t0002g0188 a0001c0002t0002g0210 a0001c0002t0006g0172	5	276	0.0181	28	c.-40 others(47): Show c.-40-12013_-40-12012insAAAATATATATATATATATATATATA TA	FAM222B	ENSG00000173065.14	transcript	ENST00000581407.6	protein_coding	1/2			chr17	TogoVar
FAM222B_chr17_28750980_28847790	28778719	A A	ATATATAT others(21): Show ATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG02155.hp2 others(3): Show HG00140.hp2 HG00408.hp2 HG02155.hp2 HG03704.hp1 NA18979.hp2 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0003 a0001c0002t0002 a0001c0002t0003	a0001c0002t0002g0209 a0001c0002t0002g0232 a0001c0002t0003g0189 others(3): Show a0001c0002t0002g0209 a0001c0002t0002g0232 a0001c0002t0003g0189 a0001c0002t0003g0190 a0001c0002t0003g0213 a0001c0002t0003g0214	6	276	0.0217	28	c.-40 others(47): Show c.-40-12013_-40-12012insAAAAAATATATATATATATATATATA TA	FAM222B	ENSG00000173065.14	transcript	ENST00000581407.6	protein_coding	1/2			chr17	TogoVar
FAM222B_chr17_28750980_28847790	28778719	A A	ATATATAT others(21): Show ATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG04184.hp1 NA19000.hp2 NA19030.hp1 HG04184.hp1 NA19000.hp2 NA19030.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0005 a0001c0002 a0004c0005	a0001c0002t0002 a0004c0005t0003 a0001c0002t0002 a0004c0005t0003	a0001c0002t0002g0217 a0001c0002t0002g0225 a0004c0005t0003g0192 a0001c0002t0002g0217 a0001c0002t0002g0225 a0004c0005t0003g0192	3	276	0.0109	28	c.-40 others(47): Show c.-40-12013_-40-12012insAAAAAAAATATATATATATATATATA TA	FAM222B	ENSG00000173065.14	transcript	ENST00000581407.6	protein_coding	1/2			chr17	TogoVar
FAM222B_chr17_28750980_28847790	28778719	A A	ATATATAT others(21): Show ATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0208 a0001c0007t0002g0208	1	276	0.0036	28	c.-40 others(47): Show c.-40-12013_-40-12012insAAAAAAAAAATATATATATATATATA TA	FAM222B	ENSG00000173065.14	transcript	ENST00000581407.6	protein_coding	1/2			chr17	TogoVar

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