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
CCDC88A_chr2_55282842_55424856	55384523	A A	ATATATAC others(409): Show ATATATACATATATACGTATGTATGTGTATATATACATATATACGTATGT ATGTGTATATATACATATATACGTATGTGTATATATACATATATACGTAT GTATGTGTATATATACATATATACGTATGTATGTGTATATATACATATAT ACGTATGTATGTGTATATATACATATATACGTATGTATGTGTATATATAC ATATATACGTATGTATGTGTATATATACATATATACGTATGTATGTGTAT ATATACATATACATACGTATGTATGTGTATATATACATATATACGTATGT ATGTGTATATATACATATATACGTATGTATGTGTATATATACATATATAC GTATGTATGTGTATATATACATATATACGTATGTATGTGTATATATACAT ATATACGTATGTATGTG	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	316	0.0032	416	c.273 others(433): Show c.273+4254_273+4255insCACATACATACGTATATATGTATATATA CACATACATACGTATATATGTATATATACACATACATACGTATATATGTA TATATACACATACATACGTATATATGTATATATACACATACATACGTATA TATGTATATATACACATACATACGTATGTATATGTATATATACACATACA TACGTATATATGTATATATACACATACATACGTATATATGTATATATACA CATACATACGTATATATGTATATATACACATACATACGTATATATGTATA TATACACATACATACGTATATATGTATATATACACATACATACGTATATA TGTATATATACACATACGTATATATGTATATATACACATACATACGTATA TATGTATATATACACATACATACGTATATATGTATATA	CCDC88A	ENSG00000115355.18	transcript	ENST00000436346.7	protein_coding	3/32			chr2	TogoVar
CCNY_chr10_35331509_35577667	35519020	G G	GTAACAGC others(409): Show GTAACAGCTCTTGATTGAATCTGGCTGAGGTATATTGTGAGTATCTGGAT TTTTAACAGATCTTGATTGAATCTGGCTGAGGTATGCTGTGAGTATCTGG ATTTTTAACAGATCTTGATTGAATTTGGCTGAGGTATACTGTGAGTATCT GGATTTTTAACAGATCTTGATTGAATCTGGCTGAGGCATACTGTGGGTAT TTGGATTTGTAACAGCTCTTGATTGAATCTGGCTGAGGTATACTGTGAGT ATCTGGATTTGTAACAGATCTTGATTGAATCTGGCTGAGGCATTCTCTGG GTATCTGGATTTTTAACAGATCTTGATTGAATCTGGCTGAGGTATACTGT GGGTATCTGGATTTTTAACAGATCTTGATTGAATCTGGCTGAGGCATTCT CTGGGTGTCTGGATTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	296	0.0034	416	c.365 others(433): Show c.365+2656_365+2657insGTAACAGATCTTGATTGAATCTGGCTGA GGCATTCTCTGGGTATCTGGATTTTTAACAGATCTTGATTGAATCTGGCT GAGGTATACTGTGGGTATCTGGATTTTTAACAGATCTTGATTGAATCTGG CTGAGGCATTCTCTGGGTGTCTGGATTTTTAACAGCTCTTGATTGAATCT GGCTGAGGTATATTGTGAGTATCTGGATTTTTAACAGATCTTGATTGAAT CTGGCTGAGGTATGCTGTGAGTATCTGGATTTTTAACAGATCTTGATTGA ATTTGGCTGAGGTATACTGTGAGTATCTGGATTTTTAACAGATCTTGATT GAATCTGGCTGAGGCATACTGTGGGTATTTGGATTTGTAACAGCTCTTGA TTGAATCTGGCTGAGGTATACTGTGAGTATCTGGATTT	CCNY	ENSG00000108100.18	transcript	ENST00000374704.8	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCNY_chr10_35331509_35577667	35519020	G G	GTAACAGC others(409): Show GTAACAGCTCTTGATTGAATCTGGCTGAGGTATATTGTGAGTATCTGGAT TTTTAACAGATCTTGATTGAATCTGGCTGAGGTATGCTGTGAGTATCTGG ATTTTTAACAGATCTTGATTGAATTTGGCTGAGGTATACTGTGAGTATCT GGATTTTTAACAGATCTTGATTGAATCTGGCTGAGGCATACTGTGGGTAT TTGGATTTGTAACAGCTCTTGATTGAATCTGGCTGAGGTATACTGTGAGT ATCTGGATTTGTAACAGATCTTGATTGAATCTGGCTGAGGCATTCTCTGG GTATCTGGATTTTTAACAGATCTTGATTGAATCTGGCTGAGGTATACTGT GGGTATCTGGATTTTTAACAGCTCTTGATTGAATCTGGCTGAGGCATTCT CTGGGTGTCTGGATTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0046	1	296	0.0034	416	c.365 others(433): Show c.365+2656_365+2657insGTAACAGATCTTGATTGAATCTGGCTGA GGCATTCTCTGGGTATCTGGATTTTTAACAGATCTTGATTGAATCTGGCT GAGGTATACTGTGGGTATCTGGATTTTTAACAGCTCTTGATTGAATCTGG CTGAGGCATTCTCTGGGTGTCTGGATTTTTAACAGCTCTTGATTGAATCT GGCTGAGGTATATTGTGAGTATCTGGATTTTTAACAGATCTTGATTGAAT CTGGCTGAGGTATGCTGTGAGTATCTGGATTTTTAACAGATCTTGATTGA ATTTGGCTGAGGTATACTGTGAGTATCTGGATTTTTAACAGATCTTGATT GAATCTGGCTGAGGCATACTGTGGGTATTTGGATTTGTAACAGCTCTTGA TTGAATCTGGCTGAGGTATACTGTGAGTATCTGGATTT	CCNY	ENSG00000108100.18	transcript	ENST00000374704.8	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(409): Show CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCT CCCCCTCCCCCCCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCCCCCC TCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCT CCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCC CTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCT CCCCTCCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0252 a0001c0001t0003g0252	1	256	0.0039	416	c.-45 others(437): Show c.-455+14589_-455+14590insCTCCCCTCCCCCTCCCCTCCCCTC CCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCTC CCCCCTCCCCTCCCCCTCCCCCCCTCCCCCTCCCCCCTCCCCTCTCCCCT CCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTC CCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCC CTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCC CTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCT TCCCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(409): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTA AGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAG AGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAG GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT GATAGTATTAAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG03130.hp2 HG03579.hp1 others(2): Show HG01123.hp2 HG03130.hp2 HG03579.hp1 NA18968.hp1 NA18993.hp1	a0001 a0002 a0007 others(2): Show a0001 a0002 a0007 a0009 a0028	a0001c0009 a0002c0002 a0007c0008 others(2): Show a0001c0009 a0002c0002 a0007c0008 a0009c0016 a0028c0069	a0001c0009t0059 a0002c0002t0003 a0007c0008t0112 others(2): Show a0001c0009t0059 a0002c0002t0003 a0007c0008t0112 a0009c0016t0034 a0028c0069t0080	a0001c0009t0059g0215 a0002c0002t0003g0003 a0007c0008t0112g0331 others(2): Show a0001c0009t0059g0215 a0002c0002t0003g0003 a0007c0008t0112g0331 a0009c0016t0034g0275 a0028c0069t0080g0269	5	334	0.0150	416	c.-25 others(427): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAA TACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATA CTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACT ATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTAT CACCTCTTAATACTATCACCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(409): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGGTAGTAT TAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTA AGAGGTGGTAGTATTAAGAGGTGATAGTATTAAGAGGTGGTAGTATTAAG AGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGATAGTATTAAGAG GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT GATAGTATTAAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0028 a0002c0002t0003g0028	1	334	0.0030	416	c.-25 others(427): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTC TTAATACTATCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTT AATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAA TACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATA CTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACT ATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTAT CACCTCTTAATACTATCACCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(409): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGGTAGT ATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTAT TAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTA AGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAG AGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGATAGTATTAAGAG GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT GATAGTATTAAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0014 a0001c0009t0014	a0001c0009t0014g0163 a0001c0009t0014g0163	1	334	0.0030	416	c.-25 others(427): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTC TTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTT AATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAA TACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATA CTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACT ATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTAT CACCTCTTAATACTATCACCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(409): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGT ATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTAT TAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTA AGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAG AGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGATAGTATTAAGAG GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT GATAGTATTAAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0005 a0001c0024t0005	a0001c0024t0005g0087 a0001c0024t0005g0087	1	334	0.0030	416	c.-25 others(427): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTC TTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTT AATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAA TACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATA CTACCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACT ATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTAT CACCTCTTAATACTATCACCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CELF5_chr19_3219661_3302076	3235509	G G	GATGGATG others(409): Show GATGGATGGATGGATTGGTGGATGGATGAATGTGTGGACAGATGGATGGG TGGATGGATGAATGGGTGGATGGATGGATGGGTGTGTGGTTGGATGGATG GATGGATGGATGGATGGATAGAAGGGTGGGTAGGAGGATGAGTGGATGGA TGGGTGGATGGATAGATGGGTGGATGGGTGGATGAATGATGGGTGGATGG GTGAGTGGGTGGATATATGGGTGGGTGGATTGGTAAATGAATTGTGGGTG GATAGGTGGGTGGGTGGATGGGTGGATGGTGGGTGGTGGGTGAATGGGTG TGTATTTGGGTGAGTGAGTAGGTGGATGGATGGATGGGTGGATGAATAGG TGGGTGGGTGGATGGATGAATGAATGGATGGATGGATGAATAGGTGGGTG GGTGGATGGGTGAATGA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	262	0.0038	416	c.259 others(435): Show c.259+10525_259+10526insTGGTGGATGGATGAATGTGTGGACAG ATGGATGGGTGGATGGATGAATGGGTGGATGGATGGATGGGTGTGTGGTT GGATGGATGGATGGATGGATGGATGGATAGAAGGGTGGGTAGGAGGATGA GTGGATGGATGGGTGGATGGATAGATGGGTGGATGGGTGGATGAATGATG GGTGGATGGGTGAGTGGGTGGATATATGGGTGGGTGGATTGGTAAATGAA TTGTGGGTGGATAGGTGGGTGGGTGGATGGGTGGATGGTGGGTGGTGGGT GAATGGGTGTGTATTTGGGTGAGTGAGTAGGTGGATGGATGGATGGGTGG ATGAATAGGTGGGTGGGTGGATGGATGAATGAATGGATGGATGGATGAAT AGGTGGGTGGGTGGATGGGTGAATGAATGGATGGATGGAT	CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CELF5_chr19_3219661_3302076	3235509	G G	GATGGATG others(409): Show GATGGATGGATGGATTGGTGGATGGATGAATGTGTGGACAGATGGATGGG TGGATGGATGAATGGGTGGATGGATGGATGGGTGTGTGGTTGGATGGATG GATGGATGGATGGATGGATAGAAGGGTGGGTAGGAGGATGAGTGGATGGA TGGGTGGATGGATAGATGGGTGGATGGGTGGATGAATGATGGGTGGATGG GTGAGTGGGTGGATATATGGGTGGGTGGATTGGTGAATGAATTGTGGGTG GATAGGTGGGTGGGTGGATGGGTGGATGGTGGGTGGTGGGTGAATGGGTG TGTATTTGGGTGAGTGAGTAGGTGGATGGATGGATGGGTGGATGAATAGG TGGGTGGGTGGATGGATGAATGAATGGATGGATGGATGAATAGGTGGGTG GGTGGATGGGTGAATGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00438.hp1 others(121): Show HG00099.hp1 HG00099.hp2 HG00438.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01255.hp1 HG01256.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01975.hp1 HG01993.hp1 HG02004.hp1 HG02040.hp1 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02145.hp1 HG02148.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp2 HG04228.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18943.hp1 NA18944.hp2 NA18955.hp1 NA18955.hp2 NA18973.hp1 NA18977.hp2 NA18994.hp2 NA18995.hp2 NA18999.hp2 NA19000.hp1 NA19007.hp1 NA19009.hp1 NA19012.hp1 NA19030.hp1 NA19067.hp1 NA19074.hp1 NA19087.hp2 NA20300.hp1 NA20752.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0002c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0003t0004 a0001c0003t0005 a0001c0004t0004 a0001c0007t0002 a0002c0008t0002	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0063 others(121): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0063 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0110 a0001c0001t0001g0133 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0196 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0236 a0001c0001t0001g0246 a0001c0001t0002g0051 a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0156 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0169 a0001c0001t0002g0174 a0001c0001t0002g0177 a0001c0001t0002g0193 a0001c0001t0002g0199 a0001c0001t0002g0209 a0001c0001t0002g0211 a0001c0001t0002g0213 a0001c0001t0002g0216 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0229 a0001c0001t0002g0235 a0001c0001t0002g0242 a0001c0001t0002g0244 a0001c0001t0003g0067 a0001c0001t0003g0083 a0001c0001t0003g0105 a0001c0001t0003g0140 a0001c0001t0003g0149 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0175 a0001c0001t0003g0179 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0194 a0001c0001t0003g0200 a0001c0001t0003g0205 a0001c0001t0003g0219 a0001c0001t0003g0231 a0001c0001t0003g0233 a0001c0001t0003g0258 a0001c0001t0004g0153 a0001c0001t0004g0155 a0001c0001t0004g0180 a0001c0001t0004g0195 a0001c0001t0004g0207 a0001c0001t0004g0212 a0001c0001t0004g0234 a0001c0001t0005g0007 a0001c0001t0005g0065 a0001c0001t0005g0152 a0001c0001t0005g0154 a0001c0001t0005g0164 a0001c0001t0005g0181 a0001c0001t0005g0187 a0001c0001t0005g0188 a0001c0001t0005g0203 a0001c0001t0005g0208 a0001c0001t0005g0214 a0001c0001t0005g0221 a0001c0001t0005g0238 a0001c0001t0005g0239 a0001c0001t0005g0240 a0001c0001t0005g0241 a0001c0001t0006g0015 a0001c0002t0002g0049 a0001c0002t0003g0017 a0001c0002t0004g0031 a0001c0002t0004g0040 a0001c0002t0004g0043 a0001c0002t0004g0044 a0001c0002t0004g0047 a0001c0002t0005g0048 a0001c0003t0004g0220 a0001c0003t0004g0237 a0001c0003t0004g0243 a0001c0003t0005g0151 a0001c0004t0004g0210 a0001c0004t0004g0227 a0001c0007t0002g0144 a0002c0008t0002g0192	124	262	0.4733	416	c.259 others(435): Show c.259+10525_259+10526insTGGTGGATGGATGAATGTGTGGACAG ATGGATGGGTGGATGGATGAATGGGTGGATGGATGGATGGGTGTGTGGTT GGATGGATGGATGGATGGATGGATGGATAGAAGGGTGGGTAGGAGGATGA GTGGATGGATGGGTGGATGGATAGATGGGTGGATGGGTGGATGAATGATG GGTGGATGGGTGAGTGGGTGGATATATGGGTGGGTGGATTGGTGAATGAA TTGTGGGTGGATAGGTGGGTGGGTGGATGGGTGGATGGTGGGTGGTGGGT GAATGGGTGTGTATTTGGGTGAGTGAGTAGGTGGATGGATGGATGGGTGG ATGAATAGGTGGGTGGGTGGATGGATGAATGAATGGATGGATGGATGAAT AGGTGGGTGGGTGGATGGGTGAATGAATGGATGGATGGAT	CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CENPJ_chr13_24877279_24927861	24881896	C C	CTATATAG others(409): Show CTATATAGATATATAGATGCATCTATATAGATATATAGATGCATCTATAT AGATATATAATCTATATAGATATATAATCTATATAGATATATAGATACAT CTATATAGATATATAGATACATCTATATAGATATATAGATACATCTATAT AGATACATCTATATATAGATACATCTATATATAGATACATCTATATATAG ATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGAT ACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATAC ATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACAT CTATATATAGATACATCTATATATAGATACATCTATATATAGATACATCG ATATATAGATACATCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0012 a0001c0004t0001g0012	1	440	0.0023	416	c.12 others(427): Show c.1280_*1281insTAGATGTATCTATATATCGATGTATCTATATATA GATGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGA TGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATG TATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTA TCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTATC TATATATAGATGTATCTATATATAGATGTATCTATATAGATGTATCTATA TATCTATATAGATGTATCTATATATCTATATAGATGTATCTATATATCTA TATAGATTATATATCTATATAGATTATATATCTATATAGATGCATCTATA TATCTATATAGATGCATCTATATATCTATATA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		382		chr13	TogoVar
CENPM_chr22_41933737_41952152	41939896	A A	AAGAAAGA others(409): Show AAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAA GAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAGAAAGAAAGAGA AAGAAAGAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAAA GAGAAAGAAAGAAAGAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAAAGA AAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAGAAA GAAAGAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAA GAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGA AAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAGGAAAGAAAGAAAGAGA AAGAAAGAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0161 a0001c0002t0002g0161	1	258	0.0039	416	c.403 others(431): Show c.403-701_403-700insCTTTCTTTCTCTTTCTTTCTCTTTCTTTCT TTCCTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTT CTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCTCTTTCTTT CTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCT TTCTTTCTCTTTCTTTCTTTCTCTTTCTTTCTTTCTCTTTCTTTCTTTCT CTTTCTTTCTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCT CTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCT TTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCT	CENPM	ENSG00000100162.15	transcript	ENST00000215980.10	protein_coding	5/5			chr22	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(409): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC CTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCC CCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCT CCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCT CCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCC TCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTC CTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCC TTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCTTCCTC CCTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0029 a0001c0002t0001g0029	1	354	0.0028	416	c.69 others(427): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTT CCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCC CCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTC CTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTC CCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTT TCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCC TTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCT CTCTTCCCCTTCCTCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CFAP61_chr20_20047532_20365698	20337644	A A	ATGGATAG others(409): Show ATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGATAG ATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGAT GGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAG ATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGAT GGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGG GTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGAT GGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGG ATGGATGGATAGATGGG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01257.hp2 HG01258.hp1 others(4): Show HG01099.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG04204.hp2 NA18951.hp2 NA19003.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0003t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0004 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0236 a0001c0001t0002g0216 a0001c0003t0004g0015 others(4): Show a0001c0001t0001g0236 a0001c0001t0002g0216 a0001c0003t0004g0015 a0002c0002t0001g0174 a0002c0002t0002g0071 a0002c0002t0002g0195 a0002c0002t0002g0227	7	236	0.0297	416	c.342 others(435): Show c.3423-4184_3423-4183insATAGATGGGTGGGTGGATGGATGGAT GGATAGATGGGTGGGTGGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGAT GGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGG ATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGAT GGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGG ATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGT GGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGG ATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CHM_chrX_85856180_86052558	85911175	G G	GTGTGTAT others(409): Show GTGTGTATATATATATATATATGAATATATATATGAATATATATATGAAT ATATATATGAATATATATATGAATATATATGAATATATATGAATATATAT ATGAATATATATGAATATATATATGAATATATATATGAATATATATATGA ATATATATATGAATATATATATGAATATATATATGAATATATATATGAAT ATATATATGAATATATATATATGAATATATATATATGAATATATATATAT GAATATATATATGAATATATATATATGAATATATATATATGAATATATAT ATATGAATATATATATGAATATATATATATGAATATATATATATGAATAT ATATATATGAATATATATATATGAATATATATATATGAATATATATATAT GAATATATATATATGAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0061 a0001c0002t0002g0061	1	245	0.0041	416	c.124 others(431): Show c.1244+85_1244+86insTTCATATATATATATTCATATATATATATT CATATATATATATTCATATATATATATTCATATATATATATTCATATATA TATATTCATATATATATATTCATATATATATTCATATATATATATTCATA TATATATATTCATATATATATATTCATATATATATTCATATATATATATT CATATATATATATTCATATATATATATTCATATATATATTCATATATATA TTCATATATATATTCATATATATATTCATATATATATTCATATATATATT CATATATATATTCATATATATATTCATATATATTCATATATATATTCATA TATATTCATATATATTCATATATATATTCATATATATATTCATATATATA TTCATATATATATTCATATATATATATATATACACA	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	9/14			chrX	TogoVar
CHTF18_chr16_783620_803074	795580	G G	GCCCTTCT others(409): Show GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC CCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCC ACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCGTGCTGCCCGTGTGGCTGC CCACTCCCCATGCCCCCCCCATGCTGCCCGTGTGGCTGTCCCCTCCCCCG TGCCCCCCCCGTGCTGCCCGTGTGGGTGCCCCTGGCCCCGTGCCGCCCCG CCCCTCCCCTCCCCCCC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0258 a0004c0005t0002g0258	1	428	0.0023	416	c.217 others(433): Show c.2176-102_2176-101insTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCT GCCCCCGGCCCCGTGCCCCCCCCCCCCCAACCACACTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCC CCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCG TGCTGCCCGTGTGGCTGCCCACTCCCCATGCCCCCCCCATGCTGCCCGTG TGGCTGTCCCCTCCCCCGTGCCCCCCCCGTGCTGCCCGTGTGGGTGCCCC TGGCCCCGTGCCGCCCCGCCCCTCCCCTCCCCCCCCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHTF18_chr16_783620_803074	795580	G G	GCCCTTCT others(409): Show GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC CCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCC ACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCCAACCACACTGCCC GTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCGTGCTGCCCGTGTGGCTG CCCACTCCCCATGCCCCCCCCATGCTGCCCGTGTGGCTGTCCCCTCCCCC GTGCCCCCCCCGTGCTGCCCGTGTGGGTGCCCCTGGCCCCGTGCCGCCCC GCCCCTCCCCTCCCCCC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0259 a0004c0005t0002g0259	1	428	0.0023	416	c.217 others(433): Show c.2176-102_2176-101insTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCT GCCCCCGGCCCCGTGCCCCCCCCCCCCCAACCACACTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCC CCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCC GTGCTGCCCGTGTGGCTGCCCACTCCCCATGCCCCCCCCATGCTGCCCGT GTGGCTGTCCCCTCCCCCGTGCCCCCCCCGTGCTGCCCGTGTGGGTGCCC CTGGCCCCGTGCCGCCCCGCCCCTCCCCTCCCCCCCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CIP2A_chr3_108544864_108594438	108575684	A A	ATGTGTAT others(409): Show ATGTGTATATATACACGTATATATACTCATATACATGTGTATATATACAC GTATATATACTCATATACATGTGTATATATACACGTATATATACTCATAT ACATGTGTATATATACGTGTATATATACTCATATACATGAGTATATATAC GTGTATATATACTCATATACATGAGTATATATACGTGTATATATACTCAT ATACATGTGTATATATACGTGTATATATACTGAGTATATATACGTGTATA TATACGTGTATATATACTGAGTATATATACGTGTATATATACTGAGTATA TATACGTGTATATATACTGAGTATATATACGTGTATATATACTGAGTATA TATACGTGTATATATACTGAGTATATATACGTGTATATATACTGAGTATA TATACGTGTATATATAC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0158 a0003c0005t0002g0158	1	372	0.0027	416	c.894 others(431): Show c.894+586_894+587insGTATATATACACGTATATATACTCAGTATA TATACACGTATATATACTCAGTATATATACACGTATATATACTCAGTATA TATACACGTATATATACTCAGTATATATACACGTATATATACTCAGTATA TATACACGTATATATACTCAGTATATATACACGTATATATACACGTATAT ATACTCAGTATATATACACGTATATATACACATGTATATGAGTATATATA CACGTATATATACTCATGTATATGAGTATATATACACGTATATATACTCA TGTATATGAGTATATATACACGTATATATACACATGTATATGAGTATATA TACGTGTATATATACACATGTATATGAGTATATATACGTGTATATATACA CATGTATATGAGTATATATACGTGTATATATACACA	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CLCN6_chr1_11801191_11848130	11829529	T T	TGAACAAC others(409): Show TGAACAACCCTGGCGTCACAGAGGGGAACCTGGGAACAACCCTGGCGTCA CAGAGGGGAACCTGGGAACAACCCTGGCGTCACAGAGGGGAACCTGGGAA CAACCCTGGCGTCACAGAGGGGAACCTGGGAACAACCCTGGCGTCACAGA GGGGAACCTGGGAACAACCCTGGCGTCACAGAGGGGAACCTGGGAACAAC CCTGGCGTCACAGAGGGGAACCTGGGAACAACCCTGGCGTCACAGAGGGG AACCTGGGAACAACCCTGGCGTCACAGAGGGGAACCTGGGAACAACCCTG GCGTCACAGAGGGGAACCTGGGAACAACCCTGGCGTCACAGAGGGGAACC TGGGAACAACCCTGGCGTCACAGAGGGGAACCTGGGAACAACCCTGGCGT CACAGAGGGGAACCTGG	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02698.hp2 HG03239.hp1 others(1): Show HG02293.hp1 HG02698.hp2 HG03239.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0033 a0001c0001t0007g0034 a0001c0001t0007g0035 others(1): Show a0001c0001t0007g0033 a0001c0001t0007g0034 a0001c0001t0007g0035 a0001c0001t0007g0036	4	290	0.0138	416	c.124 others(433): Show c.1248+380_1248+381insGTCACAGAGGGGAACCTGGGAACAACCC TGGCGTCACAGAGGGGAACCTGGGAACAACCCTGGCGTCACAGAGGGGAA CCTGGGAACAACCCTGGCGTCACAGAGGGGAACCTGGGAACAACCCTGGC GTCACAGAGGGGAACCTGGGAACAACCCTGGCGTCACAGAGGGGAACCTG GGAACAACCCTGGCGTCACAGAGGGGAACCTGGGAACAACCCTGGCGTCA CAGAGGGGAACCTGGGAACAACCCTGGCGTCACAGAGGGGAACCTGGGAA CAACCCTGGCGTCACAGAGGGGAACCTGGGAACAACCCTGGCGTCACAGA GGGGAACCTGGGAACAACCCTGGCGTCACAGAGGGGAACCTGGGAACAAC CCTGGCGTCACAGAGGGGAACCTGGGAACAACCCTGGC	CLCN6	ENSG00000011021.23	transcript	ENST00000346436.11	protein_coding	13/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNOT1_chr16_58514951_58634826	58586477	A A	AGGGGAGG others(409): Show AGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGGCAGGGGGA GGGGAAGGGAAGGGCAGGGGAGGGGGAGGGGGACTGGAGGGGAGGGGACG GGAGGGGGGAGGGGGAGGGGAGGGGGACTGGAGGGGAGGGGAGGGGAAGG GGAAGGGAAGGGGAGGGGAAGGGGATGGGAGGGGAAGGGGAGGAGAGGGG AGAGGGGAAGGGGGAGGGGAGGGGAAGGGGTAGGGAAGGGGGGAAGGGGG ATTAAGGGGGAAGGGGGGAAGGGCGAGGGGAGGGCAAGGGGAAGGGGAGG GGCTTGTCGTCCTTTCTGTGCTGTTCGGTGTGATGCAGGTGCGTTTTCTT GGCGTTTTGCTCTTTTTTCTTGCTTTTCCTGGCTCTTCTTTTCTTTCTTC TTAGGGGCTTTGGTTTT	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0010 a0010	a0010c0022 a0010c0022	a0010c0022t0001 a0010c0022t0001	a0010c0022t0001g0170 a0010c0022t0001g0170	1	308	0.0033	416	c.637 others(429): Show c.637+67_637+68insAAAACCAAAGCCCCTAAGAAGAAAGAAAAGAA GAGCCAGGAAAAGCAAGAAAAAAGAGCAAAACGCCAAGAAAACGCACCTG CATCACACCGAACAGCACAGAAAGGACGACAAGCCCCTCCCCTTCCCCTT GCCCTCCCCTCGCCCTTCCCCCCTTCCCCCTTAATCCCCCTTCCCCCCTT CCCTACCCCTTCCCCTCCCCTCCCCCTTCCCCTCTCCCCTCTCCTCCCCT TCCCCTCCCATCCCCTTCCCCTCCCCTTCCCTTCCCCTTCCCCTCCCCTC CCCTCCAGTCCCCCTCCCCTCCCCCTCCCCCCTCCCGTCCCCTCCCCTCC AGTCCCCCTCCCCCTCCCCTGCCCTTCCCTTCCCCTCCCCCTGCCCTCCC CTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCC	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	7/48			chr16	TogoVar
CNOT3_chr19_54132762_54160681	54133829	C C	CCCTCCCT others(409): Show CCCTCCCTCTCCACCTCCCCTCTCTCTCCTCCCCTCTCCACCTCCCCTCT CTCCCTCCCTCTCCACCTCCTCTCTCCCTCCCTCCTCTCCACCCTCCCCT CTCCCTCCCTCCCCTCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCC CCTCCCTCTCCACCTCCCCTCTCTCTCTCCTTCCTCCCTCTCCACCCTCC CCCTCTCTCTCCCTCCCCTCTCTCCACCTTCCCCTGTCTCCACCTCCCCT CCCTCTCTCCACCTCCCCTCTCTCCACCTCCCCTCTCTCTCTCTCCCTCC CTCCACTCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCCTCTTCCTC CCTCTCCACCTTCCCCTCTCTCTCCCTCCCTCTCTCCCCTTCCCTGTCTC CACCTCCCCTCCCTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	223	0.0045	416	c.-42 others(427): Show c.-4215_-4214insCCTCCCTCTCCACCTCCCCTCTCTCTCCTCCCCT CTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCTCTCTCCCTCCCTCC TCTCCACCCTCCCCTCTCCCTCCCTCCCCTCCCTCTCTCCCTCCCTCTCC ACCTCCCCTCTCTCCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCTTCCT CCCTCTCCACCCTCCCCCTCTCTCTCCCTCCCCTCTCTCCACCTTCCCCT GTCTCCACCTCCCCTCCCTCTCTCCACCTCCCCTCTCTCCACCTCCCCTC TCTCTCTCTCCCTCCCTCCACTCCCTCTCTCCCTCCCTCTCCACCTCCCC TCTCTCCTCTTCCTCCCTCTCCACCTTCCCCTCTCTCTCCCTCCCTCTCT CCCCTTCCCTGTCTCCACCTCCCCTCCCTCTG	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3932		chr19	TogoVar
CNST_chr1_246561456_246673595	246576195	A A	ACCGCACT others(409): Show ACCGCACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAA AAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAAC TGGTGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACAT CATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG ATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01934.hp2 NA18747.hp1 others(1): Show HG01891.hp1 HG01934.hp2 NA18747.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0076 a0001c0001t0002g0183 a0001c0001t0003g0054 others(1): Show a0001c0001t0001g0076 a0001c0001t0002g0183 a0001c0001t0003g0054 a0001c0001t0003g0075	4	320	0.0125	416	c.-52 others(433): Show c.-52+9532_-52+9533insCCGCACTCCAGCCTGGGTGACAAGAGCG AGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAA GGTTGTATTTCTGTTTATAACTGGTGGGGGGGGGGAGTTAAATTAATTTT GCCTTTGGGACAACATCACATCATGTTTTAGAAACAAACATTTCTCGGCC GGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCG GGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAA ACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTAGTGGCGGGC GCCTGCAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAC CCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCC	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10			chr1	TogoVar
CNST_chr1_246561456_246673595	246576195	A A	ACCGCACT others(409): Show ACCGCACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAA AAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAAC TGGTGGGTGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACA TCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01943.hp1 HG01952.hp2 others(5): Show HG01192.hp1 HG01943.hp1 HG01952.hp2 HG01981.hp2 HG01993.hp2 HG02148.hp1 HG02273.hp1 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0071 a0001c0001t0003g0050 a0001c0001t0003g0066 others(5): Show a0001c0001t0002g0071 a0001c0001t0003g0050 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0092	8	320	0.0250	416	c.-52 others(433): Show c.-52+9532_-52+9533insCCGCACTCCAGCCTGGGTGACAAGAGCG AGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAA GGTTGTATTTCTGTTTATAACTGGTGGGTGGGGGGGAGTTAAATTAATTT TGCCTTTGGGACAACATCACATCATGTTTTAGAAACAAACATTTCTCGGC CGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGC GGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGA AACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGCGGGC GCCTGCAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAC CCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCC	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10			chr1	TogoVar
CNST_chr1_246561456_246673595	246576196	T T	TTGCACTC others(409): Show TTGCACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAA AAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAACT GGTGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACATC ATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTTCCAGCTGCTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCAC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0036 a0003c0003t0004g0036	1	320	0.0031	416	c.-52 others(433): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTA TAACTGGTGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATC ACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACG CCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCA GGAGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAA AATACAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTTCCAGCTG CTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTG CAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246576200	A A	ACTCCAGC others(409): Show ACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAA AAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAACTGGTG GGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACATCATGT TTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCACCCCTGCG	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0187 a0001c0001t0002g0187	1	320	0.0031	416	c.-52 others(433): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTA TAACTGGTGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATC ACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACG CCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCA GGAGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAA AATACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTA CTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTG CAGTGAGCCGAGATCCCACCCCTGCGCTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246576200	A A	ACTCCAGC others(409): Show ACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAA AAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAACTGGTGG GGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACATCATGT TTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCG	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA18960.hp2 NA18985.hp2 others(1): Show HG01884.hp1 NA18960.hp2 NA18985.hp2 NA19070.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0001c0001t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0001g0257 a0001c0001t0003g0137 a0002c0002t0001g0139 others(1): Show a0001c0001t0001g0257 a0001c0001t0003g0137 a0002c0002t0001g0139 a0002c0002t0001g0140	4	320	0.0125	416	c.-52 others(433): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTAT AACTGGTGGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATC ACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACG CCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCA GGAGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAA AATACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTA CTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTG CAGTGAGCCGAGATCCCGCCACTGCGCTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246576200	A A	ACTCCAGC others(409): Show ACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAA AAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAACTGGTGG GTGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACATCATGT TTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCCCTGCG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	320	0.0031	416	c.-52 others(433): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTAT AACTGGTGGGTGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATC ACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACG CCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCA GGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAA AATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTA CTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTG CAGTGAGCCGAGATCCCGCCCCTGCGCTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246576200	A A	ACTCCAGC others(409): Show ACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAA AAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAACTGGTGG GTGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACATCATGT TTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCACCCCTGCG	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0311 a0001c0001t0002g0311	1	320	0.0031	416	c.-52 others(433): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTAT AACTGGTGGGTGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATC ACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACG CCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCA GGAGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAA AATACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTA CTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTG CAGTGAGCCGAGATCCCACCCCTGCGCTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
COA1_chr7_43634257_43734523	43691285	G G	GAAAGAAA others(409): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAGAGAGAGGGA GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAGAGA GAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAGAGAGAAAGAGAGAGAGGGAGGGAGGGAGGGA GGGAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0301 a0001c0001t0002g0301	1	384	0.0026	416	c.-39 others(435): Show c.-39+38143_-39+38144insTTCTTTCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCT CCCTCCCTCTCTCTCTTTCTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCTCTCTCTTT CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTTTCTTTCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCTCT CTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COA1_chr7_43634257_43734523	43691293	G G	GAAAGAAA others(409): Show GAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAGAGAGAGGGAGGGAGGGA GGGAGGGAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAGAGA GAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAGAGAGAAAGAGAGAGAGGGAGGGAGGGA GGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0353 a0001c0001t0002g0353	1	384	0.0026	416	c.-39 others(435): Show c.-39+38135_-39+38136insTTCTTTCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCT CCCTCTCTCTCTTTCTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTTTCTTTCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCTCTCTCTTT CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTTTCTTTCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCTCTCTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COL18A1_chr21_45400165_45518720	45431552	G G	GGGGGACA others(409): Show GGGGGACAGGCAGGACCCGGCGGCCCAGGGGAGGTGGGCAGGCAGGACCC GGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGTG GGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCG GCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCA GGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCC AGGGGAGGGGGACAGGCAGGACCCGGCGGCCCAGGGGAGGTGGGCAGGCA GGACCCGGCGGCCCAGGGGAGGGGGACAGGCAGGACCCGGCGGCCCAGGG GAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGACAGGCAGGAC CTGGCGGCCCAGGGGAC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	292	0.0034	416	c.106 others(435): Show c.106+26083_106+26084insACAGGCAGGACCCGGCGGCCCAGGGG AGGTGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACC CGGCGGCCCAGGGGAGGTGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG GGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGC GGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGC AGGCAGGACCCGGCGGCCCAGGGGAGGGGGACAGGCAGGACCCGGCGGCC CAGGGGAGGTGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGACAGGC AGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGG GGAGGGGGACAGGCAGGACCTGGCGGCCCAGGGGACGGGG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL26A1_chr7_101357875_101564024	101417602	G G	GTATATCT others(409): Show GTATATCTCTATATCTAGACATAGATATAGAGATATATCTCTATATCTAG ACATAGATATAGAGATATATCTCTATATCTAGACATAGATATAGAGATAT ATCTCTATATCTAGACATAGATATAGAGATATATCTCTATATCTAGACAT AGATATAGAGATATATCTCTATATCTAGACATAGATATAGAGATATATCT CTATATCTAGACATAGATATAGAGATATATCTCTATATCTAGACATAGAT ATAGAGATATATCTCTATATCTAGACATAGATATAGAGATATATCTCTAT ATCTAGACATAGATATAGAGATATATCTCTATATCTAGACATAGATATAG AGATATATCTCTATATCTAGACATAGATATAGAGATATATCTCTATATCT AGACATAGATATAGAGA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0115 a0001c0001t0008g0115	1	174	0.0058	416	c.159 others(433): Show c.159-2368_159-2367insCTATATCTAGACATAGATATAGAGATAT ATCTCTATATCTAGACATAGATATAGAGATATATCTCTATATCTAGACAT AGATATAGAGATATATCTCTATATCTAGACATAGATATAGAGATATATCT CTATATCTAGACATAGATATAGAGATATATCTCTATATCTAGACATAGAT ATAGAGATATATCTCTATATCTAGACATAGATATAGAGATATATCTCTAT ATCTAGACATAGATATAGAGATATATCTCTATATCTAGACATAGATATAG AGATATATCTCTATATCTAGACATAGATATAGAGATATATCTCTATATCT AGACATAGATATAGAGATATATCTCTATATCTAGACATAGATATAGAGAT ATATCTCTATATCTAGACATAGATATAGAGATATATCT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL27A1_chr9_114150537_114317511	114278403	T T	TGGTGATA others(409): Show TGGTGATAGTGGGGGTGGGAGTGGAGTGGAGGTGAGGGTGGTGGTGGTGG TGATGGTGGTGGTGGTGATGGTGATGGTGGTTGGTGGTGGTGATGGTGGT GGTGGTTGGTGGTGGTGATGATGGCGGGGGTGATGGTGGTGATGATGATG GCGGGGGTGGTGGTGGTGATGATGATGGTGGTGGTGATGGTGGTGGTGGT TGGTGGTGGTGATGATGGCGGGGGTGATGGTGGTGATGATGATGGCGGGG GTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGC GGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGTTGA TGGCGGGGGTGGTGGTGGTGATGATGATGGCAGGGGTGGTGGTGGTGGTG ATGATGGTGGGGGTGGG	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0003 a0003c0015t0003	a0003c0015t0003g0281 a0003c0015t0003g0281	1	308	0.0033	416	c.371 others(435): Show c.3717+2639_3717+2640insATAGTGGGGGTGGGAGTGGAGTGGAG GTGAGGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGATGGTGGT TGGTGGTGGTGATGGTGGTGGTGGTTGGTGGTGGTGATGATGGCGGGGGT GATGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGTGG TGGTGATGGTGGTGGTGGTTGGTGGTGGTGATGATGGCGGGGGTGATGGT GGTGATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGG TGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGG GTGGTGGTGGTGATGTTGATGGCGGGGGTGGTGGTGGTGATGATGATGGC AGGGGTGGTGGTGGTGGTGATGATGGTGGGGGTGGGGGTG	COL27A1	ENSG00000196739.15	transcript	ENST00000356083.8	protein_coding	37/60		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A3_chr19_9954561_10015504	9970255	G G	GTGGGGGC others(409): Show GTGGGGGCTGTGGAGTGAGTGGGGTCTGTGGGGTGAGTGGGGTCTGTGGG TGTGTGGGGTCTGTGGGGTGAGTGGGGGCTGTGGAGTGAGTGGGGTCTGT GGGGTGAGTGGGGTCTGTAGGTGAGTGGGGCCTGTGGGGTGAATGAGGTC TGGGTGAGTGGGGTCTGTGGGTGACTGAGGTCTGTGGGTGAGTGGGATCT GTGGGGTGAGTGAGGTCTGTGGGTGAATGGGAGCTGTGAAGTGAGGGATC TGTGGGTGAGTGGGGTCTGTGGGTGAGTGGGGTCTGTGGGTGAGTGGGGT CTGTGGGGTGAGTGGGGTCTGTGGGTGAGTGGGGTCTGTGGGGTAAGCGG GGGCTGTGGGGTGAGTGGGGTCTGTGGGGTGAGTGGGGTCTGTGGGTGTG TGGGGTCTGTGGGGTGA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0142 a0001c0142	a0001c0142t0001 a0001c0142t0001	a0001c0142t0001g0284 a0001c0142t0001g0284	1	412	0.0024	416	c.393 others(433): Show c.3937-334_3937-333insTCACCCCACAGACCCCACACACCCACAG ACCCCACTCACCCCACAGACCCCACTCACCCCACAGCCCCCGCTTACCCC ACAGACCCCACTCACCCACAGACCCCACTCACCCCACAGACCCCACTCAC CCACAGACCCCACTCACCCACAGACCCCACTCACCCACAGATCCCTCACT TCACAGCTCCCATTCACCCACAGACCTCACTCACCCCACAGATCCCACTC ACCCACAGACCTCAGTCACCCACAGACCCCACTCACCCAGACCTCATTCA CCCCACAGGCCCCACTCACCTACAGACCCCACTCACCCCACAGACCCCAC TCACTCCACAGCCCCCACTCACCCCACAGACCCCACACACCCACAGACCC CACTCACCCCACAGACCCCACTCACTCCACAGCCCCCA	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	54/66			chr19	TogoVar
COL6A1_chr21_45976770_46010048	45999935	T T	TGGGAAGA others(409): Show TGGGAAGACCCGTGAGGATCATGGGGGGGACGTGTGAGGATCATAGGGGA GACCCGTGAGGGTCATGGGGGGATGTGTGAGGATCATGGGGGGGGAAGTG TGAGGATCATGGGGGGATGTGTGAGGATCATAGAGGGGACATGTGAGGAT CATGGAGGGCATGTGAGGATCATGGGGGGGACCCGTGAGGATCATGGGGG GGACCCGTGAGGATCATGGGGGACATGTGAGGATCATGGGGGACATGTGA GGATCATGGAGGGCATGTGAGGATCATGGGGGACATGTGAGGATCATGGG AAGACGTGAGGATCATGGGAAGACGTGAGGATCATGGGGGGGACGTGTGA GGATCATGGGGGGACCCGTGAGGGTCATGGGGGGACGTGAGGATTGGGGG GACCCGTGAGGATCATG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG03492.hp2 HG01123.hp1 HG03492.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0041 a0004c0005t0001g0047 a0004c0005t0001g0041 a0004c0005t0001g0047	2	128	0.0156	416	c.177 others(433): Show c.1776+246_1776+247insAAGACCCGTGAGGATCATGGGGGGGACG TGTGAGGATCATAGGGGAGACCCGTGAGGGTCATGGGGGGATGTGTGAGG ATCATGGGGGGGGAAGTGTGAGGATCATGGGGGGATGTGTGAGGATCATA GAGGGGACATGTGAGGATCATGGAGGGCATGTGAGGATCATGGGGGGGAC CCGTGAGGATCATGGGGGGGACCCGTGAGGATCATGGGGGACATGTGAGG ATCATGGGGGACATGTGAGGATCATGGAGGGCATGTGAGGATCATGGGGG ACATGTGAGGATCATGGGAAGACGTGAGGATCATGGGAAGACGTGAGGAT CATGGGGGGGACGTGTGAGGATCATGGGGGGACCCGTGAGGGTCATGGGG GGACGTGAGGATTGGGGGGACCCGTGAGGATCATGGGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	27/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COMMD9_chr11_36267292_36294424	36287046	A A	ATATGTAT others(409): Show ATATGTATACTACATACTATGTATATCATATAGTATGTATACTACATACT ATGTATATCATATAGTATGTATACTACATACTATGTATATCATATAGTAT GTATACTACATACTATGTATATCATATAGTATGTATACTACATACTATGT ATATCATATAGTATGTATACTACATACTATGTATATCATATAGTATGTAT ACTACATACTATGTATATCATATAGTATGTATACTACATACTATGTATAT CATATAGTATGTATACTACATACTATGTATATCATATAGTATGTATACTA CATACTATGTATATCATATAGTATGTATACTACATACTATGTATATCATA TAGTATGTATACTACATACTATGTATATCATATAGTATGTATACTACATA CTATGTATATCATATAG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01993.hp2 HG02083.hp1 others(15): Show HG00609.hp1 HG01993.hp2 HG02083.hp1 HG02273.hp2 HG02300.hp1 NA18612.hp1 NA18939.hp1 NA18950.hp1 NA18953.hp2 NA18960.hp2 NA18961.hp1 NA18964.hp2 NA18978.hp2 NA18991.hp2 NA19009.hp1 NA19065.hp1 NA19068.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0044 a0001c0001t0003g0216 others(1): Show a0001c0001t0003g0001 a0001c0001t0003g0044 a0001c0001t0003g0216 a0001c0001t0003g0217	18	448	0.0402	416	c.51+ others(431): Show c.51+2315_51+2316insCTATATGATATACATAGTATGTAGTATACA TACTATATGATATACATAGTATGTAGTATACATACTATATGATATACATA GTATGTAGTATACATACTATATGATATACATAGTATGTAGTATACATACT ATATGATATACATAGTATGTAGTATACATACTATATGATATACATAGTAT GTAGTATACATACTATATGATATACATAGTATGTAGTATACATACTATAT GATATACATAGTATGTAGTATACATACTATATGATATACATAGTATGTAG TATACATACTATATGATATACATAGTATGTAGTATACATACTATATGATA TACATAGTATGTAGTATACATACTATATGATATACATAGTATGTAGTATA CATACTATATGATATACATAGTATGTAGTATACATA	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
COMMD9_chr11_36267292_36294424	36287075	G G	ATAGCATG others(409): Show ATAGCATGTATACTACATACTATGTATATCATGTAGCATGTATACTACAT ACTATGTATATCATGTAGCATGTATACTACATACTATGTATATCATGTAG CATGTATACTACATACTATGTATATCATGTAGCATGTATACTACATACTA TGTATATCATGTAGCATGTATACTACATACTATGTATATCATGTAGCATG TATACTACATACTATGTATATCATGTAGCATGTATACTACATACTATGTA TATCATGTAGCATGTATACTACATACTATGTATATCATGTAGCATGTATA CTACATACTATGTATATCATGTAGCATGTATACTACATACTATGTATATC ATGTAGCATGTATACTACATACTATGTATATCATGTAGCATGTATACTAC ATACTATGTATATCATG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG01175.hp2 others(1): Show HG00099.hp1 HG00639.hp1 HG01175.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0011 a0001c0001t0004g0011	4	448	0.0089	416	c.51+ others(431): Show c.51+2287_51+2288insATGATATACATAGTATGTAGTATACATGCT ACATGATATACATAGTATGTAGTATACATGCTACATGATATACATAGTAT GTAGTATACATGCTACATGATATACATAGTATGTAGTATACATGCTACAT GATATACATAGTATGTAGTATACATGCTACATGATATACATAGTATGTAG TATACATGCTACATGATATACATAGTATGTAGTATACATGCTACATGATA TACATAGTATGTAGTATACATGCTACATGATATACATAGTATGTAGTATA CATGCTACATGATATACATAGTATGTAGTATACATGCTACATGATATACA TAGTATGTAGTATACATGCTACATGATATACATAGTATGTAGTATACATG CTACATGATATACATAGTATGTAGTATACATGCTAT	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
CPNE7_chr16_89570758_89602246	89587947	C C	CCCCCGTG others(409): Show CCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTCAC CCGCGTGTCACCCACAGATACACGGCCCCCGTGTTACCCACAGATACATG GCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTC ACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCAC CCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACAC GGCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCA CCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACA CGGCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGT CACCCACAGATACACGG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	348	0.0029	416	c.928 others(431): Show c.928-724_928-723insGTGTCACCCGCGTGTCACCCACAGATACAC GGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTT ACCCACAGATACATGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATAC ACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTG TCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGT CACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGATAC ACGGCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTG TCACCCACAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCC GTGTCACCCGCGTGTCACCCACAGATACACGGCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CR1L_chr1_207640133_207728703	207686116	C C	CTCCCTCC others(409): Show CTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCATCCCTCCCTCCCT CCCTCCCTCCCTCCTTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTTC CTTCCTTCCTCCCTCCCTCCATCCCTCCCTCCCTCCCTCCCTCCCTCCTT TCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCC CTCCATCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCT CCCTCCCTCCATCCCTCCCTCCCTCCCTCCCTCCCTCCTTTCCTTCCTTC CTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCT TCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTCC CTTCCTCCCTCCCTCCA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02300.hp2 HG02735.hp2 HG01192.hp2 HG02300.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0251 a0001c0001t0001g0010 a0001c0001t0001g0251	3	346	0.0087	416	c.463 others(433): Show c.463+2168_463+2169insCCCTTCCTTCCTTCCTCCCTCCCTCCAT CCCTCCCTCCCTCCCTCCCTCCCTCCTTTCCTTCCTTCCTCCCTCCCTCC CTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCATCCCTCCCTCCCTCCCT CCCTCCCTCCTTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTTC CTTCCTCCCTCCCTCCATCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT TCCTTCCTTCCTCCCTCCCTCCATCCCTCCCTCCCTCCCTCCCTCCCTCC TTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCT CCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCC CTCCCTCCCTCCCTTCCTCCCTCCCTCCATCCCTCCCT	CR1L	ENSG00000197721.17	transcript	ENST00000508064.7	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
CR1L_chr1_207640133_207728703	207686116	C C	CTCCCTCC others(409): Show CTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCATCCCTCCCTCCCT CCCTCCCTCCCTCCTTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTTC CTTCCTTCCTCCCTCCCTCCATCCCTCCCTCCCTCCCTCCCTCCCTCCTT TCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCC CTCCATCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCT CCCTCCCTCCATCCCTCCCTCCCTCCCTCCCTCCCTCCTTTCCTTCCTTC CTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCT TCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTTC CTTCCTCCCTCCCTCCA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03831.hp1 NA18906.hp2 others(1): Show HG02615.hp2 HG03831.hp1 NA18906.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0252 a0001c0001t0001g0258 others(1): Show a0001c0001t0001g0248 a0001c0001t0001g0252 a0001c0001t0001g0258 a0001c0001t0001g0282	4	346	0.0116	416	c.463 others(433): Show c.463+2168_463+2169insCCCTTCCTTCCTTCCTCCCTCCCTCCAT CCCTCCCTCCCTCCCTCCCTCCCTCCTTTCCTTCCTTCCTCCCTCCCTCC CTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCATCCCTCCCTCCCTCCCT CCCTCCCTCCTTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTTC CTTCCTCCCTCCCTCCATCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT TCCTTCCTTCCTCCCTCCCTCCATCCCTCCCTCCCTCCCTCCCTCCCTCC TTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCT CCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCC CTCCCTCCCTTCCTTCCTCCCTCCCTCCATCCCTCCCT	CR1L	ENSG00000197721.17	transcript	ENST00000508064.7	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
CROCC2_chr2_240901336_240998311	240924290	T T	TCCCCACA others(409): Show TCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCACACTGACCCG GCCCCCCACACTAACCCAGCACCCACACTGACCCGGCCCCCACACTGACC CGGCCCCCCACACTGACCCAGCCCCCCACACTGACCCAGCCCCCACACTA ACCCAGCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACAC TAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCC ACACTAACCCAGCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCC CACACTAACCCGGCCCCCACACTAACCCAGCCCCCACACTAACCCAGCCC CCACACTAACCCGGCCCCCACACTAACCCAGTCCCCACACTAACCCGGCC CCCCACACTGACCCGGC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0012 a0012	a0012c0013 a0012c0013	a0012c0013t0001 a0012c0013t0001	a0012c0013t0001g0124 a0012c0013t0001g0124	1	350	0.0029	416	c.489 others(433): Show c.489-1418_489-1417insTCCCCACACTAACCCGGCCCCCACACTG ACCCGGCCCCCCACACTAACCCAGCACCCACACTGACCCGGCCCCCACAC TGACCCGGCCCCCCACACTGACCCAGCCCCCCACACTGACCCAGCCCCCA CACTAACCCAGCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCC CACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACCCGGC CCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCACACTAACCCG GCCCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCACACTAACCC AGCCCCCACACTAACCCGGCCCCCACACTAACCCAGTCCCCACACTAACC CGGCCCCCCACACTGACCCGGCCCCCACACTAACCCAG	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CRTC3_chr15_90524923_90650345	90647359	A A	ACACCCCT others(409): Show ACACCCCTCCTCCTCCTCCACACCCCTCCTCCTCCTCCACACCCCTCTTC CTCCTCCATACCCCTCCTCCTCAACCCTCCTCCTTCACACCCCTCACCCC TTTTCCACATCCCTCCTCCTTGCCCCTCCTCCTCACCCTTTGTCCTCCTC CACACCCCTTCTCCTCCTCCATACCCCTCCTTCTCAACCCTCCTCCTCCA CACCCCTCCTCCTCACCCCTTCTCCTCCTCCACACCTGTCCTCCTCCACA CTCATCCTCCTCACCGTTCCTCCACCACATCCCTCCTCCTCCACACCCCT CCTCACCCCTTGTCCTCCTCCAAACGCTTCTTCCTCCTGTTTCTTCCTCC ACACCCCTCCTGCTCCACATCCCTCCCCCTCCATCCCCTCCACACCCCTC CCCCTCCTCACCCCGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0045 a0003c0003t0001g0045	1	276	0.0036	416	c.52 others(427): Show c.5219_*5220insCACCCCTCCTCCTCCTCCACACCCCTCCTCCTCC TCCACACCCCTCTTCCTCCTCCATACCCCTCCTCCTCAACCCTCCTCCTT CACACCCCTCACCCCTTTTCCACATCCCTCCTCCTTGCCCCTCCTCCTCA CCCTTTGTCCTCCTCCACACCCCTTCTCCTCCTCCATACCCCTCCTTCTC AACCCTCCTCCTCCACACCCCTCCTCCTCACCCCTTCTCCTCCTCCACAC CTGTCCTCCTCCACACTCATCCTCCTCACCGTTCCTCCACCACATCCCTC CTCCTCCACACCCCTCCTCACCCCTTGTCCTCCTCCAAACGCTTCTTCCT CCTGTTTCTTCCTCCACACCCCTCCTGCTCCACATCCCTCCCCCTCCATC CCCTCCACACCCCTCCCCCTCCTCACCCCGTC	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		2015		chr15	TogoVar
CXorf51A_chrX_146809106_146819744	146812263	A A	ATATGTGT others(409): Show ATATGTGTACATATATGTGTATATATGTATATACACACATATATGTGTAC ATATATGTGTGTATATGTATATACACATATATATGTGTACATATATGTGT GTATATGTGTGTGTATATACATATATGTGTATATACACACACATATACAC ACATATATGTACACATATATATGTGTATATACATATATACACATATATAT GTGTATATACATATATACACATATATATGTGTATATACATATATACACAT ATATGTACACATATATATGTGTATATACATATATACACATATATGTACAC ATATATATGTGTATATACGTATATACACATATATGTACACATATGTGTGT ATATATGTGTGTATATACATATATGTGTACATATATGTGTGTATATGTGT GTGTATATACATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp1 NA18972.hp1 HG02155.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	264	0.0076	416	c.19 others(427): Show c.1943_*1944insCATATATGTATATACACACACATATACACACATA TATGTACACATATATGTATATACACACATATATACACACATATGTGTACA TATATGTGTATATACGTATATACACATATATATGTGTACATATATGTGTA TATATGTATATACACATATATATGTGTACATATATGTGTATATATGTATA TACACATATATATGTGTATATATGTATATACACATATATATGTGTATATA TGTATATACACATATATATGTGTACATATATGTGTGTATATGTGTGTGTA TATACACATATATGTATATACACACACATATACACACATATATGTACACA TATATATGTGTATATACATATACACACATATATGTACACATATATGTGTG TATATACATATATACACATATATGTACACATA	CXorf51A	ENSG00000224440.2	transcript	ENST00000458472.2	protein_coding		1842		chrX	TogoVar
CXorf51A_chrX_146809106_146819744	146812296	T T	TGTACATA others(409): Show TGTACATATATGTGTATATATGTATATACACATATATATGTGTACATATA TGTGTATATATGTATATACACATATATATGTGTACATATATGTGTATATA TGTATATACACATATATATGTGTACATATATGTGTATATATGTATATACA CATATATATGTGTACATATATGTGTATATATGTATATACACATATATATG TGTACATATATGTGTATATATGTATATACACATATATATGTGTACATATA TGTGTATATATGTATATACACATATATATGTGTATATATGTGTATACACA TATATATGTGTATATATGTATATACACATATATATGTGTACATATATGTG TGTATATGTGTGTATATATACATATATGTGTATATACGTATATACACATG TGTATATACGTATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	264	0.0038	416	c.19 others(427): Show c.1910_*1911insGTATATACGTATATACACATGTGTATATACGTAT ATACACATATATGTATATATACACACATATACACACATATATGTACACAT ATATATGTGTATATACATATATACACATATATATGTGTATACACATATAT ACACATATATATGTGTATATACATATATACACATATATGTACACATATAT ATGTGTATATACATATATACACATATATGTACACATATATATGTGTATAT ACATATATACACATATATGTACACATATATATGTGTATATACATATATAC ACATATATGTACACATATATATGTGTATATACATATATACACATATATGT ACACATATATATGTGTATATACATATATACACATATATGTACACATATAT ATGTGTATATACATATATACACATATATGTAC	CXorf51A	ENSG00000224440.2	transcript	ENST00000458472.2	protein_coding		1809		chrX	TogoVar
CXorf51B_chrX_146804771_146815411	146812263	A A	ATATGTGT others(409): Show ATATGTGTACATATATGTGTATATATGTATATACACACATATATGTGTAC ATATATGTGTGTATATGTATATACACATATATATGTGTACATATATGTGT GTATATGTGTGTGTATATACATATATGTGTATATACACACACATATACAC ACATATATGTACACATATATATGTGTATATACATATATACACATATATAT GTGTATATACATATATACACATATATATGTGTATATACATATATACACAT ATATGTACACATATATATGTGTATATACATATATACACATATATGTACAC ATATATATGTGTATATACGTATATACACATATATGTACACATATGTGTGT ATATATGTGTGTATATACATATATGTGTACATATATGTGTGTATATGTGT GTGTATATACATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 NA18972.hp1 HG02155.hp2 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	272	0.0074	416	c.19 others(427): Show c.1955_*1956insTATGTGTACATATATGTGTATATATGTATATACA CACATATATGTGTACATATATGTGTGTATATGTATATACACATATATATG TGTACATATATGTGTGTATATGTGTGTGTATATACATATATGTGTATATA CACACACATATACACACATATATGTACACATATATATGTGTATATACATA TATACACATATATATGTGTATATACATATATACACATATATATGTGTATA TACATATATACACATATATGTACACATATATATGTGTATATACATATATA CACATATATGTACACATATATATGTGTATATACGTATATACACATATATG TACACATATGTGTGTATATATGTGTGTATATACATATATGTGTACATATA TGTGTGTATATGTGTGTGTATATACATATATG	CXorf51B	ENSG00000235699.3	transcript	ENST00000438525.3	protein_coding		1853		chrX	TogoVar
CXorf51B_chrX_146804771_146815411	146812296	T T	TGTACATA others(409): Show TGTACATATATGTGTATATATGTATATACACATATATATGTGTACATATA TGTGTATATATGTATATACACATATATATGTGTACATATATGTGTATATA TGTATATACACATATATATGTGTACATATATGTGTATATATGTATATACA CATATATATGTGTACATATATGTGTATATATGTATATACACATATATATG TGTACATATATGTGTATATATGTATATACACATATATATGTGTACATATA TGTGTATATATGTATATACACATATATATGTGTATATATGTGTATACACA TATATATGTGTATATATGTATATACACATATATATGTGTACATATATGTG TGTATATGTGTGTATATATACATATATGTGTATATACGTATATACACATG TGTATATACGTATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	272	0.0037	416	c.19 others(427): Show c.1988_*1989insGTACATATATGTGTATATATGTATATACACATAT ATATGTGTACATATATGTGTATATATGTATATACACATATATATGTGTAC ATATATGTGTATATATGTATATACACATATATATGTGTACATATATGTGT ATATATGTATATACACATATATATGTGTACATATATGTGTATATATGTAT ATACACATATATATGTGTACATATATGTGTATATATGTATATACACATAT ATATGTGTACATATATGTGTATATATGTATATACACATATATATGTGTAT ATATGTGTATACACATATATATGTGTATATATGTATATACACATATATAT GTGTACATATATGTGTGTATATGTGTGTATATATACATATATGTGTATAT ACGTATATACACATGTGTATATACGTATATAC	CXorf51B	ENSG00000235699.3	transcript	ENST00000438525.3	protein_coding		1886		chrX	TogoVar
DCDC2_chr6_24166755_24363059	24238179	A A	AGGGAGGA others(409): Show AGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAAGGAAT GGAGGGAGGGAGGGAGGAATGGAGGAATGGAGGGATGGGGAGGGGGAGGG GAGGGGGAGGGGAGTGGAAGGGTGAGGGGAGGGGGAGGGGAGTGGAAGGG GGAGGGGAGGGGAAGGGGGAGGGGAGGGGGGAGGGGGAGGGGGAGGGGAG GGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGG GAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGGGAGG GGAGGGGAAGGGGAGGGGGAGGGGAGGGGGAGGGGAAGGGGAGGGGGAGG GGGAGGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0017 a0002c0002t0017	a0002c0002t0017g0102 a0002c0002t0017g0102	1	216	0.0046	416	c.923 others(435): Show c.923-33078_923-33077insCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCTTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCTCCCCTCCCCCT CCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCCTCCCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCCTTCCAC TCCCCTCCCCCTCCCCTCACCCTTCCACTCCCCTCCCCCTCCCCTCCCCC TCCCCATCCCTCCATTCCTCCATTCCTCCCTCCCTCCCTCCATTCCTTCC TCCCTCCCTCCCTTCATTCCTCCCTCCCTCCCTTCCTCCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DHRSX_chrX_2214506_2505976	2314352	G G	GCAGGGAG others(409): Show GCAGGGAGGGAAGGAGGGAGGCAGGGAGGGAAGGAGGAAGGCAGGGAGGG AAGCAGGGAAGGAGGGAGGGAGGGAGGGAAGGAGGGAGGGAGGGAGGGAG GGAAAGGAGGGAGGGAGGGAGGGAAGCAGGGAAGGAGGGAGGCAGGGAGG GAAGGAGGAAGGCAGGGAGGGAAGCAGGGAAGGAGGGAGGGAGGGAGGGA AAGAGGGAAGGAGGGAGGGAGGGAGGGAGGGAAAGGAGGGAGGGAGGGAG GGAAGCAGGGAAGGAGGGAGGGAGGGAGGGAAGGAGGGAGGGAGGGAGGG AAGGAGGGAAGGAGGGAGGGAGGGAGGGAGGGAAGGAGGGAGGGAGGGAA GGAGGGAGGGAGGGAAAGGAGGGAGGGAGGGAGGGAGGGAAGGAGGGAGG GAGGGAGGGAAGGGAGA	intron_variant intron_variant	MODIFIER	HG02300.hp1 NA18612.hp1 NA18948.hp1 others(2): Show HG02300.hp1 NA18612.hp1 NA18948.hp1 NA18952.hp2 NA19070.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0003	a0001c0001t0001g0021 a0002c0002t0003g0002 a0002c0002t0003g0017 others(2): Show a0001c0001t0001g0021 a0002c0002t0003g0002 a0002c0002t0003g0017 a0002c0002t0003g0042 a0002c0002t0003g0045	5	50	0.1000	416	c.287 others(435): Show c.287-22750_287-22749insTCTCCCTTCCCTCCCTCCCTCCCTCC TTCCCTCCCTCCCTCCCTCCCTCCTTTCCCTCCCTCCCTCCTTCCCTCCC TCCCTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCCTCCTTCCCTCCCTC CCTCCCTCCTTCCCTCCCTCCCTCCCTCCTTCCCTGCTTCCCTCCCTCCC TCCCTCCTTTCCCTCCCTCCCTCCCTCCCTCCTTCCCTCTTTCCCTCCCT CCCTCCCTCCTTCCCTGCTTCCCTCCCTGCCTTCCTCCTTCCCTCCCTGC CTCCCTCCTTCCCTGCTTCCCTCCCTCCCTCCCTCCTTTCCCTCCCTCCC TCCCTCCCTCCTTCCCTCCCTCCCTCCCTCCTTCCCTGCTTCCCTCCCTG CCTTCCTCCTTCCCTCCCTGCCTCCCTCCTTCCCTCCCTG	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2314358	A A	AGGGAAGG others(409): Show AGGGAAGGAGGAAGGCAGGGAGGGAAGCAGGGAAGGAGGGAGGGAGGGAG GGAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAAGC AGGAAGGAGGGAGGCAGGGAGGGAAGGAGGAAGGCAGGGAGGGAAGCAGG AAGGAGGGAGGGAGGGAGGGAAAGAGGGAAGGAGGGAGGGAGGGAGGGAG GGAAAGGAGGGAGGGAGGGAGGGGAGGAAGCAGGGAAGGAGGGAGGGAGG GAGGGAAGGAGGGAGGGAGGGAGGGAAGGAGGGAAGGAGGGAGGGAGGGA GGGAGGGAAGGAGGGAGGGAGGGAAGGAGGGAGGGAGGGAAAGGAGGAGG GAGGGAGGGAGGGAAGGAGGGGAGGGAGGGAGGGAAGGAGGGAGGGAGGG AGGGAAGGGAGAGAGGG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	50	0.0200	416	c.287 others(435): Show c.287-22756_287-22755insCCCTCTCTCCCTTCCCTCCCTCCCTC CCTCCTTCCCTCCCTCCCTCCCCTCCTTCCCTCCCTCCCTCCCTCCTCCT TTCCCTCCCTCCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTCCCTCCCT CCCTCCTTCCCTCCTTCCCTCCCTCCCTCCCTCCTTCCCTCCCTCCCTCC CTCCTTCCCTGCTTCCTCCCCTCCCTCCCTCCCTCCTTTCCCTCCCTCCC TCCCTCCCTCCTTCCCTCTTTCCCTCCCTCCCTCCCTCCTTCCTGCTTCC CTCCCTGCCTTCCTCCTTCCCTCCCTGCCTCCCTCCTTCCTGCTTCCCTC CCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTCCCTCCCTCCC TCCCTCCTTCCCTGCTTCCCTCCCTGCCTTCCTCCTTCCC	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DIP2C_chr10_269201_694668	417622	G G	GCCTGTCA others(409): Show GCCTGTCAGGGTTCGAATAGGCCTCCCTGTCCGCCTGTGCCTGTCGGCTC AAATAGGCCTCCCTGTCTGCCTGCGCCTGTCAGAGCTCGGACAGGCCTCC CTGTCCACCTACACCTGTCAGGGCGCGGACAGGCCTCCCTGTCCACCTGT TCCTGTCAGGGCTTCGATAGGCCTCCCTGTCCACCTGTTCCTGTCAGGGC TCGGATAGGCCTCCCTGTCCACCTGCACCTGTCAGGGCTCGGATAGGCCT CCCTGTCCACCTGCACCTGTCAGGGCTCGGATAGGCCTCCCTGTCCACCT GCACCTGTCAGAGCTCGGACAGGCCTCCCTGTCCACCTGCACCTGTCAGG GCTCGGATAGGCCTCCCTGTCCACCTGCACCTGTCAGGGCTCGGACAGGC CTCCCTGTCCACCTGCA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	88	0.0114	416	c.739 others(433): Show c.739+1442_739+1443insTGCAGGTGGACAGGGAGGCCTGTCCGAG CCCTGACAGGTGCAGGTGGACAGGGAGGCCTATCCGAGCCCTGACAGGTG CAGGTGGACAGGGAGGCCTGTCCGAGCTCTGACAGGTGCAGGTGGACAGG GAGGCCTATCCGAGCCCTGACAGGTGCAGGTGGACAGGGAGGCCTATCCG AGCCCTGACAGGTGCAGGTGGACAGGGAGGCCTATCCGAGCCCTGACAGG AACAGGTGGACAGGGAGGCCTATCGAAGCCCTGACAGGAACAGGTGGACA GGGAGGCCTGTCCGCGCCCTGACAGGTGTAGGTGGACAGGGAGGCCTGTC CGAGCTCTGACAGGCGCAGGCAGACAGGGAGGCCTATTTGAGCCGACAGG CACAGGCGGACAGGGAGGCCTATTCGAACCCTGACAGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	6/36			chr10	TogoVar

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Search Results (Total: 10000 hits)