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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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CRMP1_chr4_5815764_5898086	5837698	A A	AAAATAAA others(28): Show AAAATAAAATAAAATAAAATAAAATAAAATAAAATG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0174 a0001c0003t0006g0174	1	314	0.0032	35	c.131 others(52): Show c.1311-793_1311-792insCATTTTATTTTATTTTATTTTATTTTAT TTTATTT		CRMP1	ENSG00000072832.15	transcript	ENST00000324989.12	protein_coding	9/13						chr4	TogoVar
CROCC2_chr2_240901336_240998311	240923476	C C	CACACTAA others(28): Show CACACTAACCCAGCCCCCACACTAACCCAGCCCCCA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0340 a0001c0001t0004g0340	1	350	0.0029	35	c.488 others(50): Show c.488+849_488+883dupACACTAACCCAGCCCCCAACACTAACCCAG CCCCC		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31					INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240923627	G G	GCCCCCAC others(28): Show GCCCCCACACTGACCCAGCCCCCACACTAACCCAGC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01109.hp1 HG01981.hp2 others(5): Show HG00738.hp1 HG01109.hp1 HG01981.hp2 HG02109.hp1 HG03710.hp1 HG04228.hp2 NA20752.hp2 NA20905.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0067 a0002c0002 others(1): Show a0001c0001 a0001c0067 a0002c0002 a0008c0008	a0001c0001t0002 a0001c0001t0003 a0001c0067t0002 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0067t0002 a0002c0002t0001 a0002c0002t0002 a0008c0008t0002	a0001c0001t0002g0267 a0001c0001t0002g0273 a0001c0001t0003g0064 others(5): Show a0001c0001t0002g0267 a0001c0001t0002g0273 a0001c0001t0003g0064 a0001c0067t0002g0287 a0002c0002t0001g0168 a0002c0002t0002g0260 a0002c0002t0002g0268 a0008c0008t0002g0254	8	350	0.0229	35	c.488 others(50): Show c.488+992_488+993insGACCCAGCCCCCACACTAACCCAGCCCCCC ACACT		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31					INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240923766	G G	GTCCCCAC others(28): Show GTCCCCACACTGACCCAGCCCCCACACTAACCCGGC	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0208 a0006c0007t0001g0208	1	350	0.0029	35	c.488 others(52): Show c.488+1121_488+1122insTCCCCACACTGACCCAGCCCCCACACTA ACCCGGC		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31						chr2	TogoVar
CROCC2_chr2_240901336_240998311	240923783	G G	GCCCCCAC others(28): Show GCCCCCACACTGACCCGGCCCCCACACTGACCCGGC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01070.hp2 HG01074.hp1 others(3): Show HG00642.hp1 HG01070.hp2 HG01074.hp1 HG01358.hp2 HG02735.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0043 a0001 a0002 a0043	a0001c0001 a0002c0002 a0043c0059 a0001c0001 a0002c0002 a0043c0059	a0001c0001t0002 a0001c0001t0004 a0002c0002t0002 others(1): Show a0001c0001t0002 a0001c0001t0004 a0002c0002t0002 a0043c0059t0002	a0001c0001t0002g0277 a0001c0001t0004g0304 a0002c0002t0002g0259 others(3): Show a0001c0001t0002g0277 a0001c0001t0004g0304 a0002c0002t0002g0259 a0002c0002t0002g0276 a0002c0002t0002g0318 a0043c0059t0002g0295	6	350	0.0171	35	c.488 others(52): Show c.488+1148_488+1149insGACCCGGCCCCCACACTGACCCGGCCCC CCACACT		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31					INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240923847	A A	AACCCGGC others(28): Show AACCCGGCCCCCCACACTAACCCAGCCCCCACACTG	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0003 a0009c0010t0003	a0009c0010t0003g0219 a0009c0010t0003g0219	1	350	0.0029	35	c.488 others(52): Show c.488+1226_488+1227insCCCCCACACTGACCCGGCCCCCCACACT AACCCAG		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31					INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240923854	C C	CCCCCCAC others(28): Show CCCCCCACACTAACCCGGCCCCCCACACTAACCCGG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03041.hp2 HG02965.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0303 a0001c0001t0004g0319 a0001c0001t0004g0303 a0001c0001t0004g0319	2	350	0.0057	35	c.488 others(52): Show c.488+1224_488+1225insGGCCCCCCACACTAACCCGGCCCCCACA CTAACCC		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31					INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240923977	C C	CCACACTA others(28): Show CCACACTAATCCGGCCCCCACACTAACCCGGCCCCT	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA18967.hp1 NA18984.hp2 others(3): Show HG00597.hp2 NA18967.hp1 NA18984.hp2 NA18994.hp2 NA18998.hp1 NA19066.hp2	a0006 a0009 a0021 others(1): Show a0006 a0009 a0021 a0053	a0006c0007 a0009c0010 a0021c0019 others(1): Show a0006c0007 a0009c0010 a0021c0019 a0053c0037	a0006c0007t0001 a0009c0010t0001 a0009c0010t0003 others(2): Show a0006c0007t0001 a0009c0010t0001 a0009c0010t0003 a0021c0019t0001 a0053c0037t0001	a0006c0007t0001g0208 a0006c0007t0001g0221 a0009c0010t0001g0222 others(3): Show a0006c0007t0001g0208 a0006c0007t0001g0221 a0009c0010t0001g0222 a0009c0010t0003g0206 a0021c0019t0001g0220 a0053c0037t0001g0205	6	350	0.0171	35	c.488 others(52): Show c.488+1340_488+1341insTCCGGCCCCCACACTAACCCGGCCCCTC ACACTAA		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31					INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924061	G G	GCCCCCAC others(28): Show GCCCCCACACTAACCCAGTCCCCACACTAACCCAGC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0316 a0002c0002t0002g0316	1	350	0.0029	35	c.488 others(52): Show c.488+1431_488+1432insAGTCCCCACACTAACCCAGCCCCCCACA CTAACCC		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31					INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924149	G G	GCCCCCAC others(28): Show GCCCCCACACTAACCCAGTCCCCACACTAACCCAGC	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA18969.hp2 NA19056.hp2 HG00438.hp1 NA18969.hp2 NA19056.hp2	a0002 a0008 a0002 a0008	a0002c0002 a0008c0008 a0002c0002 a0008c0008	a0002c0002t0002 a0008c0008t0002 a0002c0002t0002 a0008c0008t0002	a0002c0002t0002g0328 a0008c0008t0002g0279 a0008c0008t0002g0330 a0002c0002t0002g0328 a0008c0008t0002g0279 a0008c0008t0002g0330	3	350	0.0086	35	c.488 others(52): Show c.488+1519_488+1520insAGTCCCCACACTAACCCAGCCCCCCACA CTAACCC		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31					INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924235	C C	CAGCCCCC others(28): Show CAGCCCCCACACTAACCCTAACCCCACACTAACCCG	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0048 a0048	a0048c0066 a0048c0066	a0048c0066t0002 a0048c0066t0002	a0048c0066t0002g0269 a0048c0066t0002g0269	1	350	0.0029	35	c.489 others(52): Show c.489-1489_489-1488insAGCCCCCACACTAACCCTAACCCCACAC TAACCCG		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31						chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924290	T T	TCCCCACA others(28): Show TCCCCACACTAACCCGGCCCCCACACTAACCCGGCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0002 a0002c0012t0002	a0002c0012t0002g0294 a0002c0012t0002g0294	1	350	0.0029	35	c.489 others(52): Show c.489-1420_489-1419insGGCCCCCACACTAACCCGGCCCCCCACA CTAACCC		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31					INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924347	A A	ACACTGAC others(28): Show ACACTGACCCGGCCCCCAACACTAACCCAGCCCCCC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0024 a0024	a0024c0077 a0024c0077	a0024c0077t0001 a0024c0077t0001	a0024c0077t0001g0111 a0024c0077t0001g0111	1	350	0.0029	35	c.489 others(52): Show c.489-1377_489-1376insCACTGACCCGGCCCCCAACACTAACCCA GCCCCCC		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31						chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924421	A A	AACCCGGC others(28): Show AACCCGGCCCCCCACACTAACCCAGTCCCCACACTG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02145.hp1 HG00642.hp2 HG02145.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0002 a0001c0024t0002	a0001c0024t0002g0238 a0001c0024t0002g0342 a0001c0024t0002g0238 a0001c0024t0002g0342	2	350	0.0057	35	c.489 others(52): Show c.489-1299_489-1298insGGCCCCCCACACTAACCCAGTCCCCACA CTGACCC		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31					INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924692	C C	CCCCAACA others(28): Show CCCCAACACTAACCCAGCCCCCCACACTAACCCAGT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0012 a0012	a0012c0013 a0012c0013	a0012c0013t0001 a0012c0013t0001	a0012c0013t0001g0106 a0012c0013t0001g0106	1	350	0.0029	35	c.489 others(52): Show c.489-1029_489-1028insAACACTAACCCAGCCCCCCACACTAACC CAGTCCC		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31					INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924709	C C	CCCCCCAC others(28): Show CCCCCCACACTAACCCAGTCCCCACACTAACCCAGT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp1 NA18951.hp2 HG00438.hp2 HG00544.hp1 NA18951.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0002 a0008c0008 a0001c0001 a0002c0002 a0008c0008	a0001c0001t0002 a0002c0002t0002 a0008c0008t0002 a0001c0001t0002 a0002c0002t0002 a0008c0008t0002	a0001c0001t0002g0280 a0002c0002t0002g0329 a0008c0008t0002g0281 a0001c0001t0002g0280 a0002c0002t0002g0329 a0008c0008t0002g0281	3	350	0.0086	35	c.489 others(52): Show c.489-1011_489-1010insCACACTAACCCAGTCCCCACACTAACCC AGTCCCC		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31					INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924839	A A	ACCCAGTC others(28): Show ACCCAGTCCCCACACTAACCCGGCCCCCCACACTAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01074.hp1 HG01358.hp2 others(10): Show HG00642.hp1 HG01074.hp1 HG01358.hp2 HG02015.hp1 HG02129.hp1 HG02735.hp2 HG02896.hp1 HG03209.hp1 HG03492.hp1 NA18979.hp1 NA19080.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0027 others(1): Show a0001 a0002 a0027 a0043	a0001c0001 a0001c0022 a0002c0002 others(3): Show a0001c0001 a0001c0022 a0002c0002 a0002c0033 a0027c0034 a0043c0059	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0022t0002 a0002c0002t0001 a0002c0002t0002 a0002c0033t0002 a0027c0034t0002 a0043c0059t0002	a0001c0001t0001g0156 a0001c0001t0002g0277 a0001c0001t0004g0304 others(10): Show a0001c0001t0001g0156 a0001c0001t0002g0277 a0001c0001t0004g0304 a0001c0022t0002g0322 a0002c0002t0001g0151 a0002c0002t0001g0153 a0002c0002t0002g0259 a0002c0002t0002g0268 a0002c0002t0002g0276 a0002c0002t0002g0302 a0002c0033t0002g0291 a0027c0034t0002g0261 a0043c0059t0002g0295	13	350	0.0371	35	c.489 others(50): Show c.489-882_489-881insAGTCCCCACACTAACCCGGCCCCCCACACT ACCCC		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31					INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924890	A A	ACCCAGTC others(28): Show ACCCAGTCCCCACACTAACCCGGCCCCCCACACTAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00544.hp1 others(26): Show HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00609.hp2 HG00738.hp1 HG01255.hp1 HG02056.hp1 HG02451.hp1 HG02486.hp1 HG02965.hp1 HG02976.hp1 HG03041.hp2 HG03579.hp1 HG03704.hp2 HG03942.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18951.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18981.hp1 NA18995.hp2 NA19004.hp2 NA19009.hp1 NA19056.hp2 NA19088.hp2 NA19240.hp1	a0001 a0002 a0008 others(2): Show a0001 a0002 a0008 a0013 a0016	a0001c0001 a0001c0020 a0001c0067 others(5): Show a0001c0001 a0001c0020 a0001c0067 a0002c0002 a0002c0068 a0008c0008 a0013c0023 a0016c0092	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0020t0002 a0001c0067t0002 a0002c0002t0001 a0002c0002t0002 a0002c0068t0001 a0008c0008t0002 a0013c0023t0001 a0013c0023t0008 a0016c0092t0001	a0001c0001t0001g0100 a0001c0001t0001g0155 a0001c0001t0002g0236 others(26): Show a0001c0001t0001g0100 a0001c0001t0001g0155 a0001c0001t0002g0236 a0001c0001t0002g0247 a0001c0001t0002g0280 a0001c0001t0003g0141 a0001c0001t0003g0226 a0001c0001t0004g0271 a0001c0001t0004g0303 a0001c0001t0004g0319 a0001c0020t0002g0263 a0001c0067t0002g0287 a0002c0002t0001g0057 a0002c0002t0001g0120 a0002c0002t0002g0245 a0002c0002t0002g0249 a0002c0002t0002g0264 a0002c0002t0002g0323 a0002c0002t0002g0328 a0002c0002t0002g0329 a0002c0068t0001g0078 a0008c0008t0002g0266 a0008c0008t0002g0279 a0008c0008t0002g0281 a0008c0008t0002g0300 a0008c0008t0002g0330 a0013c0023t0001g0114 a0013c0023t0008g0110 a0016c0092t0001g0113	29	350	0.0829	35	c.489 others(50): Show c.489-831_489-830insAGTCCCCACACTAACCCGGCCCCCCACACT ACCCC		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31					INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924890	A A	ACCCAGTC others(28): Show ACCCAGTCCCCACACTACCCCGGCCCCCCACACTAC	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0252 a0002c0002t0002g0252	1	350	0.0029	35	c.489 others(50): Show c.489-831_489-830insAGTCCCCACACTACCCCGGCCCCCCACACT ACCCC		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31					INFO_REALIGN_3_PRIME	chr2	TogoVar
CRTAP_chr3_33109014_33152773	33150307	C C	CCTGTATT others(28): Show CCTGTATTAATAATTTGTAATAAATTTATTAATACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 NA19085.hp1 HG03041.hp1 NA19085.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0021 a0001c0004t0005 a0001c0003t0021 a0001c0004t0005	a0001c0003t0021g0163 a0001c0004t0005g0069 a0001c0003t0021g0163 a0001c0004t0005g0069	2	408	0.0049	35	c.78 others(46): Show c.7859_*7860insCTGTATTAATAATTTGTAATAAATTTATTAATAC A		CRTAP	ENSG00000170275.15	transcript	ENST00000320954.11	protein_coding					2535		chr3	TogoVar
CRTC3_chr15_90524923_90650345	90647056	T T	TCACCCCT others(28): Show TCACCCCTCCTCCTCCACAATCCTCCTCTTATTCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	276	0.0036	35	c.49 others(46): Show c.4916_*4917insCACCCCTCCTCCTCCACAATCCTCCTCTTATTCC A		CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding					1712		chr15	TogoVar
CRYBG1_chr6_106355717_106577017	106361970	T T	TTTCTTTC others(28): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp2 HG02451.hp2 others(7): Show HG01884.hp1 HG02145.hp2 HG02451.hp2 HG02572.hp1 HG02615.hp2 HG02886.hp2 HG02970.hp1 HG03453.hp1 HG03471.hp2 HG03516.hp2	a0006 a0007 a0012 others(7): Show a0006 a0007 a0012 a0031 a0036 a0051 a0052 a0053 a0056 a0058	a0006c0005 a0007c0007 a0012c0015 others(7): Show a0006c0005 a0007c0007 a0012c0015 a0031c0048 a0036c0050 a0051c0035 a0052c0030 a0053c0031 a0056c0033 a0058c0036	a0006c0005t0004 a0007c0007t0004 a0012c0015t0007 others(7): Show a0006c0005t0004 a0007c0007t0004 a0012c0015t0007 a0031c0048t0001 a0036c0050t0003 a0051c0035t0001 a0052c0030t0003 a0053c0031t0008 a0056c0033t0002 a0058c0036t0001	a0006c0005t0004g0187 a0007c0007t0004g0188 a0012c0015t0007g0245 others(7): Show a0006c0005t0004g0187 a0007c0007t0004g0188 a0012c0015t0007g0245 a0031c0048t0001g0189 a0036c0050t0003g0190 a0051c0035t0001g0250 a0052c0030t0003g0246 a0053c0031t0008g0249 a0056c0033t0002g0248 a0058c0036t0001g0247	10	272	0.0368	35	c.173 others(50): Show c.173+891_173+892insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTT		CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21					INFO_REALIGN_3_PRIME	chr6	TogoVar
CRYBG1_chr6_106355717_106577017	106489730	A A	AGGCAGGA others(28): Show AGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG00558.hp2 others(107): Show HG00408.hp2 HG00438.hp2 HG00558.hp2 HG00642.hp1 HG00741.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01106.hp2 HG01169.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp2 HG01346.hp1 HG01516.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG02004.hp2 HG02040.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03927.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 NA18522.hp1 NA18906.hp2 NA18940.hp1 NA18945.hp2 NA18947.hp2 NA18950.hp1 NA18956.hp1 NA18969.hp1 NA18969.hp2 NA18973.hp2 NA18974.hp1 NA18978.hp1 NA18978.hp2 NA18983.hp1 NA18990.hp2 NA18998.hp2 NA19003.hp2 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19012.hp2 NA19043.hp1 NA19057.hp2 NA19060.hp2 NA19066.hp2 NA19077.hp1 NA19080.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(32): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0011 a0012 a0013 a0014 a0016 a0017 a0018 a0019 a0021 a0027 a0028 a0032 a0033 a0035 a0038 a0042 a0044 a0047 a0048 a0049 a0052 a0056 a0058 a0059 a0063 a0067	a0001c0001 a0001c0009 a0001c0022 others(41): Show a0001c0001 a0001c0009 a0001c0022 a0001c0024 a0002c0003 a0002c0011 a0003c0002 a0003c0038 a0004c0004 a0004c0069 a0005c0006 a0005c0008 a0006c0005 a0007c0007 a0009c0012 a0010c0013 a0011c0014 a0012c0015 a0013c0016 a0014c0017 a0016c0023 a0016c0039 a0017c0019 a0018c0037 a0018c0044 a0019c0020 a0021c0026 a0027c0042 a0028c0043 a0032c0045 a0033c0046 a0035c0051 a0038c0058 a0042c0055 a0044c0068 a0047c0060 a0048c0070 a0049c0071 a0052c0030 a0056c0033 a0058c0036 a0059c0028 a0063c0075 a0067c0079	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(54): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0009t0004 a0001c0022t0002 a0001c0024t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0006 a0002c0003t0007 a0002c0003t0010 a0002c0011t0003 a0003c0002t0001 a0003c0002t0005 a0003c0038t0007 a0004c0004t0002 a0004c0069t0002 a0005c0006t0003 a0005c0006t0008 a0005c0008t0003 a0006c0005t0001 a0006c0005t0003 a0006c0005t0004 a0007c0007t0003 a0007c0007t0004 a0009c0012t0002 a0010c0013t0009 a0011c0014t0001 a0012c0015t0003 a0012c0015t0007 a0013c0016t0001 a0014c0017t0003 a0014c0017t0007 a0016c0023t0001 a0016c0039t0001 a0017c0019t0001 a0018c0037t0001 a0018c0044t0001 a0019c0020t0007 a0021c0026t0001 a0027c0042t0001 a0028c0043t0013 a0032c0045t0004 a0033c0046t0004 a0035c0051t0016 a0038c0058t0002 a0042c0055t0001 a0044c0068t0001 a0047c0060t0004 a0048c0070t0004 a0049c0071t0004 a0052c0030t0003 a0056c0033t0002 a0058c0036t0001 a0059c0028t0002 a0063c0075t0001 a0067c0079t0002	a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0035 others(107): Show a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0035 a0001c0001t0001g0041 a0001c0001t0001g0054 a0001c0001t0001g0083 a0001c0001t0001g0089 a0001c0001t0001g0105 a0001c0001t0001g0121 a0001c0001t0001g0131 a0001c0001t0001g0165 a0001c0001t0001g0173 a0001c0001t0001g0184 a0001c0001t0001g0198 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0258 a0001c0001t0003g0209 a0001c0001t0005g0135 a0001c0009t0004g0164 a0001c0022t0002g0126 a0001c0024t0001g0197 a0001c0024t0001g0206 a0002c0003t0002g0099 a0002c0003t0003g0220 a0002c0003t0006g0044 a0002c0003t0006g0045 a0002c0003t0006g0052 a0002c0003t0006g0060 a0002c0003t0006g0128 a0002c0003t0006g0134 a0002c0003t0006g0217 a0002c0003t0006g0233 a0002c0003t0007g0116 a0002c0003t0010g0262 a0002c0011t0003g0002 a0002c0011t0003g0160 a0003c0002t0001g0014 a0003c0002t0005g0082 a0003c0002t0005g0154 a0003c0002t0005g0177 a0003c0038t0007g0144 a0004c0004t0002g0110 a0004c0004t0002g0163 a0004c0004t0002g0176 a0004c0004t0002g0195 a0004c0004t0002g0256 a0004c0004t0002g0259 a0004c0069t0002g0166 a0005c0006t0003g0004 a0005c0006t0003g0038 a0005c0006t0003g0079 a0005c0006t0008g0185 a0005c0006t0008g0243 a0005c0006t0008g0269 a0005c0008t0003g0175 a0006c0005t0001g0120 a0006c0005t0003g0170 a0006c0005t0004g0024 a0006c0005t0004g0036 a0007c0007t0003g0072 a0007c0007t0003g0085 a0007c0007t0003g0229 a0007c0007t0003g0270 a0007c0007t0004g0109 a0009c0012t0002g0087 a0009c0012t0002g0226 a0009c0012t0002g0231 a0009c0012t0002g0272 a0010c0013t0009g0066 a0011c0014t0001g0180 a0011c0014t0001g0183 a0011c0014t0001g0257 a0012c0015t0003g0241 a0012c0015t0003g0242 a0012c0015t0007g0239 a0012c0015t0007g0245 a0013c0016t0001g0136 a0014c0017t0003g0053 a0014c0017t0007g0075 a0014c0017t0007g0169 a0016c0023t0001g0182 a0016c0023t0001g0265 a0016c0039t0001g0074 a0017c0019t0001g0070 a0017c0019t0001g0073 a0018c0037t0001g0253 a0018c0044t0001g0027 a0019c0020t0007g0080 a0021c0026t0001g0156 a0021c0026t0001g0211 a0027c0042t0001g0088 a0028c0043t0013g0230 a0032c0045t0004g0068 a0033c0046t0004g0155 a0035c0051t0016g0225 a0038c0058t0002g0215 a0042c0055t0001g0050 a0044c0068t0001g0159 a0047c0060t0004g0095 a0048c0070t0004g0139 a0049c0071t0004g0167 a0052c0030t0003g0246 a0056c0033t0002g0248 a0058c0036t0001g0247 a0059c0028t0002g0091 a0063c0075t0001g0237 a0067c0079t0002g0006	110	272	0.4044	35	c.313 others(54): Show c.313-21700_313-21699insGGCAGGAGAATCGCTTGAACCCAGGA GGCGGAGGT		CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	2/21						chr6	TogoVar
CSE1L_chr20_49041312_49101949	49047564	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0372 a0001c0002t0001g0372	1	386	0.0026	35	c.-12 others(52): Show c.-12+1169_-12+1170insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT		CSE1L	ENSG00000124207.17	transcript	ENST00000262982.3	protein_coding	1/24					INFO_REALIGN_3_PRIME	chr20	TogoVar
CSE1L_chr20_49041312_49101949	49097938	A A	ATTTTTTT others(28): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0100 a0001c0001t0003g0100	1	386	0.0026	35	c.15 others(46): Show c.1500_*1501insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T		CSE1L	ENSG00000124207.17	transcript	ENST00000262982.3	protein_coding					990		chr20	TogoVar
CSF1R_chr5_150048295_150091554	150084388	A A	AAAGAAAG others(28): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0008 a0004c0009t0008	a0004c0009t0008g0352 a0004c0009t0008g0352	1	406	0.0025	35	c.49+ others(50): Show c.49+1990_49+1991insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTT		CSF1R	ENSG00000182578.14	transcript	ENST00000675795.1	protein_coding	1/20						chr5	TogoVar
CSF3R_chr1_36461043_36487913	36486886	A A	AAGCCTAG others(28): Show AAGCCTAGACCCTATCTACCCCCGACGTCAAACCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	420	0.0024	35	c.-41 others(46): Show c.-4157_-4156insCTGGTTTGACGTCGGGGGTAGATAGGGTCTAGGC T		CSF3R	ENSG00000119535.20	transcript	ENST00000373106.6	protein_coding					3974		chr1	TogoVar
CSGALNACT1_chr8_19399161_19762277	19461499	A A	AGCCACAT others(28): Show AGCCACATTCACCATGGGGGGCGTATCCGCACAGCG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01099.hp1 HG02109.hp2 others(7): Show HG00738.hp1 HG01099.hp1 HG02109.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02615.hp2 HG02647.hp1 HG03471.hp1 HG03516.hp1	a0002 a0005 a0002 a0005	a0002c0003 a0002c0004 a0005c0011 a0002c0003 a0002c0004 a0005c0011	a0002c0003t0003 a0002c0003t0004 a0002c0003t0005 others(4): Show a0002c0003t0003 a0002c0003t0004 a0002c0003t0005 a0002c0003t0007 a0002c0003t0034 a0002c0004t0005 a0005c0011t0003	a0002c0003t0003g0099 a0002c0003t0004g0006 a0002c0003t0004g0014 others(7): Show a0002c0003t0003g0099 a0002c0003t0004g0006 a0002c0003t0004g0014 a0002c0003t0005g0043 a0002c0003t0005g0113 a0002c0003t0007g0051 a0002c0003t0034g0054 a0002c0004t0005g0015 a0005c0011t0003g0180 a0005c0011t0003g0181	10	238	0.0420	35	c.635 others(52): Show c.635-2892_635-2858dupCGCTGTGCGGATACGCCCCCCATGGTGA ATGTGGC		CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	3/8						chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19461534	G G	GGCCACAT others(28): Show GGCCACATTCACCATGGAGGGCCTATCCGCACAGCA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0025 a0001c0002t0025	a0001c0002t0025g0001 a0001c0002t0025g0001	1	238	0.0042	35	c.635 others(52): Show c.635-2893_635-2892insTGCTGTGCGGATAGGCCCTCCATGGTGA ATGTGGC		CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	3/8						chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19461698	A A	ATCCGCAC others(28): Show ATCCGCACAGCGGCCACATTCACCATGGGGGGCGTG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0010 a0010	a0010c0018 a0010c0018	a0010c0018t0003 a0010c0018t0003	a0010c0018t0003g0039 a0010c0018t0003g0039	1	238	0.0042	35	c.635 others(52): Show c.635-3057_635-3056insCACGCCCCCCATGGTGAATGTGGCCGCT GTGCGGA		CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	3/8						chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19461746	C C	CCACATTC others(28): Show CCACATTCACCATGGGGGGCGTATCCGCACAGCACA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0025 a0001c0002t0025	a0001c0002t0025g0001 a0001c0002t0025g0001	1	238	0.0042	35	c.635 others(52): Show c.635-3105_635-3104insTGTGCTGTGCGGATACGCCCCCCATGGT GAATGTG		CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	3/8						chr8	TogoVar
CSH1_chr17_63889918_63901574	63898156	C C	CTCTTCTT others(28): Show CTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	428	0.0023	35	c.-16 others(46): Show c.-1646_-1645insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAG A		CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding					1583		chr17	TogoVar
CSMD1_chr8_2930361_4999914	3182841	G G	GGGTGTGT others(28): Show GGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0111 a0001c0005t0002g0111	1	126	0.0079	35	c.562 others(54): Show c.5621-1628_5621-1627insACACACACACACACACACACACACAC ACACACACC		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	36/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	3303916	C C	CATAATAA others(28): Show CATAATAATAACTATTTTGGGGTATTGCGCCCCATT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0017 a0001c0001t0039g0017	1	126	0.0079	35	c.395 others(54): Show c.3950+3744_3950+3778dupAATGGGGCGCAATACCCCAAAATAGT TATTATTAT		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	25/69						chr8	TogoVar
CSMD2_chr1_33508998_34170230	33938387	C C	CCCTGCTG others(28): Show CCCTGCTGCTGGCTTACTTGGCATTTCCCATGATCT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01074.hp2 HG01109.hp1 others(27): Show HG01071.hp1 HG01074.hp2 HG01109.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG02055.hp1 HG02080.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02886.hp1 HG03017.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG06807.hp2 NA18906.hp1 NA18998.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA20300.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0010 a0014 a0016 a0018 a0022 a0024 a0025 a0026 a0027 a0029 a0031	a0001c0001 a0002c0002 a0002c0005 others(23): Show a0001c0001 a0002c0002 a0002c0005 a0002c0006 a0002c0027 a0003c0003 a0003c0048 a0004c0032 a0004c0049 a0004c0051 a0005c0012 a0005c0020 a0006c0013 a0008c0021 a0008c0022 a0010c0056 a0014c0036 a0016c0033 a0018c0029 a0022c0019 a0024c0014 a0025c0011 a0026c0023 a0027c0018 a0029c0009 a0031c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 a0002c0002t0005 a0002c0002t0010 a0002c0005t0003 a0002c0006t0001 a0002c0027t0003 a0003c0003t0002 a0003c0048t0006 a0004c0032t0001 a0004c0049t0009 a0004c0051t0001 a0005c0012t0001 a0005c0020t0006 a0006c0013t0003 a0008c0021t0004 a0008c0022t0001 a0010c0056t0001 a0014c0036t0002 a0016c0033t0012 a0018c0029t0007 a0022c0019t0011 a0024c0014t0002 a0025c0011t0001 a0026c0023t0003 a0027c0018t0001 a0029c0009t0018 a0031c0007t0002	a0001c0001t0001g0062 a0001c0001t0002g0043 a0001c0001t0003g0063 others(27): Show a0001c0001t0001g0062 a0001c0001t0002g0043 a0001c0001t0003g0063 a0002c0002t0001g0013 a0002c0002t0005g0036 a0002c0002t0010g0016 a0002c0005t0003g0056 a0002c0006t0001g0008 a0002c0027t0003g0045 a0003c0003t0002g0009 a0003c0048t0006g0032 a0004c0032t0001g0022 a0004c0049t0009g0012 a0004c0051t0001g0019 a0005c0012t0001g0003 a0005c0020t0006g0046 a0006c0013t0003g0058 a0008c0021t0004g0023 a0008c0022t0001g0060 a0010c0056t0001g0047 a0014c0036t0002g0044 a0016c0033t0012g0028 a0018c0029t0007g0025 a0022c0019t0011g0017 a0024c0014t0002g0059 a0025c0011t0001g0004 a0026c0023t0003g0039 a0027c0018t0001g0048 a0029c0009t0018g0065 a0031c0007t0002g0002	30	66	0.4546	35	c.518 others(52): Show c.518-2434_518-2433insAGATCATGGGAAATGCCAAGTAAGCCAG CAGCAGG		CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	3/70						chr1	TogoVar
CSMD2_chr1_33508998_34170230	33938387	C C	CTCTGCTG others(28): Show CTCTGCTGCTGGCTTACTTGGCATTTCCCATGATCT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0023 a0023	a0023c0017 a0023c0017	a0023c0017t0016 a0023c0017t0016	a0023c0017t0016g0066 a0023c0017t0016g0066	1	66	0.0152	35	c.518 others(52): Show c.518-2434_518-2433insAGATCATGGGAAATGCCAAGTAAGCCAG CAGCAGA		CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	3/70						chr1	TogoVar
CSMD3_chr8_112217928_113441939	112270355	T T	TGTGTGTG others(28): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTTAGGGGTGA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0043 a0001c0007t0001g0043	1	80	0.0125	35	c.950 others(54): Show c.9509-4766_9509-4765insTCACCCCTAACACACACACACACACA CACACACAC		CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	59/70						chr8	TogoVar
CSNK1E_chr22_38285691_38322433	38316001	C C	CCCCTGGG others(28): Show CCCCTGGGGTGTTGGGGAGCGACTGGGGGTCTGGGT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0075	a0001c0001t0075g0251 a0001c0001t0075g0251	1	412	0.0024	35	c.-13 others(52): Show c.-13+1158_-13+1159insACCCAGACCCCCAGTCGCTCCCCAACAC CCCAGGG		CSNK1E	ENSG00000213923.13	transcript	ENST00000396832.6	protein_coding	1/10						chr22	TogoVar
CSNK2A1_chr20_467498_548790	485109	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAATAATAATAATAATAATAATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0093 a0001c0004t0093	a0001c0004t0093g0004 a0001c0004t0093g0004	1	316	0.0032	35	c.106 others(54): Show c.1061-1034_1061-1033insATATTATTATTATTATTATTATTTTT TTTTTTTTT		CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	13/13						chr20	TogoVar
CSPP1_chr8_67059392_67201614	67159957	C C	CTTTCTTT others(28): Show CTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	158	0.0063	35	c.253 others(52): Show c.2538+864_2538+898dupCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTT		CSPP1	ENSG00000104218.16	transcript	ENST00000678616.1	protein_coding	21/30					INFO_REALIGN_3_PRIME	chr8	TogoVar
CSRNP3_chr2_165464698_165694407	165666262	C C	CAGAGAGA others(28): Show CAGAGAGAGGAAGGAAGGAAAGGGAGAGAGGAAGAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0037 a0001c0002t0037	a0001c0002t0037g0243 a0001c0002t0037g0243	1	246	0.0041	35	c.408 others(52): Show c.408+8281_408+8315dupGAGAGGAAGGAAGGAAAGGGAGAGAGGA AGAAAGA		CSRNP3	ENSG00000178662.16	transcript	ENST00000651982.1	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr2	TogoVar
CST8_chr20_23486117_23501010	23490301	T T	TTTATATA others(28): Show TTTATATATATAAAATATATAATTTATATATATAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp2 HG01070.hp2 others(4): Show HG00642.hp1 HG00642.hp2 HG01070.hp2 HG01361.hp2 HG01975.hp2 HG01993.hp1 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0003 a0001c0001t0001g0006	7	440	0.0159	35	c.-11 others(46): Show c.-1185_-1184insTTATATATATAAAATATATAATTTATATATATAA A		CST8	ENSG00000125815.9	transcript	ENST00000246012.2	protein_coding					815		chr20	TogoVar
CST8_chr20_23486117_23501010	23490304	A A	ATATATAT others(28): Show ATATATATAAAATATATATAATTTATATATATAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00544.hp1 others(29): Show HG00099.hp1 HG00140.hp1 HG00544.hp1 HG00597.hp2 HG00609.hp1 HG01168.hp2 HG01169.hp1 HG01256.hp1 HG01496.hp2 HG01884.hp1 HG01891.hp1 HG01981.hp1 HG02135.hp1 HG02145.hp1 HG02257.hp1 HG02683.hp2 HG02735.hp1 HG02886.hp2 HG03195.hp1 HG03579.hp1 HG03654.hp1 HG03831.hp2 HG03834.hp2 NA18949.hp2 NA18962.hp2 NA19064.hp1 NA19070.hp2 NA19072.hp2 NA19084.hp1 NA19087.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0003t0001g0007	32	440	0.0727	35	c.-11 others(46): Show c.-1182_-1181insTATATATAAAATATATATAATTTATATATATAAA T		CST8	ENSG00000125815.9	transcript	ENST00000246012.2	protein_coding					812		chr20	TogoVar
CT45A10_chrX_135876065_135898444	135882608	A A	AGCTTGTG others(28): Show AGCTTGTGCCCCCTTCTCTCACTCCCCACTCTTTTT	frameshift_variant frameshift_variant	HIGH	NA18906.hp1 NA18906.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0001 a0008c0008t0001	a0008c0008t0001g0101 a0008c0008t0001g0101	1	258	0.0039	35	c.439 others(42): Show c.439_440insAAAAAGAGTGGGGAGTGAGAGAAGGGGGCACAAGC	p.Met others(5): Show p.Met147fs	CT45A10	ENSG00000269586.8	transcript	ENST00000682849.1	protein_coding	4/5	545/869	439/570	147/189			chrX	TogoVar
CT45A6_chrX_135789685_135807787	135803898	A A	AAAGAAAG others(28): Show AAAGAAAGAGAGAAAGAAAGAGAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	36	0.0278	35	c.-13 others(46): Show c.-1395_-1394insCTTTCTTTCTTTCTCTCTTTCTTTCTCTCTTTCT T		CT45A6	ENSG00000278289.5	transcript	ENST00000620654.2	protein_coding					1112		chrX	TogoVar
CT45A8_chrX_135841497_135859538	135851976	A A	AGCAATTC others(28): Show AGCAATTCTGTATAATGAATGGCATTATACAGAATG	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA19079.hp2 NA18990.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	8	0.2500	35	c.-6- others(50): Show c.-6-1222_-6-1188dupCATTCTGTATAATGCCATTCATTATACAGA ATTGC		CT45A8	ENSG00000278085.5	transcript	ENST00000611660.5	protein_coding	1/4						chrX	TogoVar
CTBP1_chr4_1206445_1254130	1237383	T T	TCAGTGAA others(28): Show TCAGTGAAAACCCGGTGTTCACCTCCTGATGGTGTG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02559.hp1 HG02809.hp1 others(4): Show HG02109.hp1 HG02559.hp1 HG02809.hp1 HG02818.hp1 HG02970.hp1 HG03471.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0021 a0001c0001t0002g0162 a0001c0001t0006g0127 others(3): Show a0001c0001t0002g0021 a0001c0001t0002g0162 a0001c0001t0006g0127 a0001c0001t0006g0128 a0001c0001t0006g0256 a0001c0001t0006g0257	7	422	0.0166	35	c.162 others(50): Show c.162+799_162+800insCACACCATCAGGAGGTGAACACCGGGTTTT CACTG		CTBP1	ENSG00000159692.18	transcript	ENST00000382952.8	protein_coding	3/9						chr4	TogoVar
CTBP1_chr4_1206445_1254130	1237524	T T	TAGGACAA others(28): Show TAGGACAAACCCCGTGTCCACCTCCTGATGGGGCTC	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	422	0.0024	35	c.162 others(50): Show c.162+624_162+658dupGAGCCCCATCAGGAGGTGGACACGGGGTTT GTCCT		CTBP1	ENSG00000159692.18	transcript	ENST00000382952.8	protein_coding	3/9						chr4	TogoVar
CTPS2_chrX_16582999_16717669	16684861	C C	CCGGCAGA others(28): Show CCGGCAGATCACTTGAGATCAGGAGTTCCAGACCAG	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0201 a0002c0004t0001g0201	1	226	0.0044	35	c.873 others(52): Show c.873-1670_873-1636dupCTGGTCTGGAACTCCTGATCTCAAGTGA TCTGCCG		CTPS2	ENSG00000047230.15	transcript	ENST00000359276.9	protein_coding	8/18						chrX	TogoVar
CTSC_chr11_88288592_88342736	88291569	T T	TGAAAGAA others(28): Show TGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	434	0.0023	35	c.24 others(46): Show c.2436_*2437insTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTT C		CTSC	ENSG00000109861.17	transcript	ENST00000227266.10	protein_coding					2022		chr11	TogoVar

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