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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Select column to sort.

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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
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(809): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGT ATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTAT TAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTA AGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAG AGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAG GTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGT GGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTA AGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAG AGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAG GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT GATAGTATTAAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	334	0.0030	816	c.-25 others(827): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAA TACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATA CTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACT ATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTAC CACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCA CCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACC TCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTC TTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTT AATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAA TACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATA CTACCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACT ATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTAT CACCTCTTAATACTATCACCTCTTAATACTAT		CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding					2168		chr11	TogoVar
CDON_chr11_125951821_126067866	126065146	A A	ATAGTATT others(809): Show ATAGTATTAAGAGGTGATAGTATTAAGAGGTGGTAGTATTAAGAGGTGGT AGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAG TATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTA TTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATT AAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAA GAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGA GGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGG TGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTG ATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGAT AGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGGTAG TATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTA TTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATT AAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAA GAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGA GGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGG TGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTG GTAGTATTAAGAGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0005 a0001c0035t0005	a0001c0035t0005g0090 a0001c0035t0005g0090	1	334	0.0030	816	c.-26 others(827): Show c.-2630_-2629insCCACCTCTTAATACTACCACCTCTTAATACTACC ACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCAC CTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTATCACCT CTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCT TAATACTATCACCTCTTAATACTATCACCTCTTAATACTACCACCTCTTA ATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAAT ACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATAC TATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTA TCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATC ACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCAC CTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCT CTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCT TAATACTATCACCTCTTAATACTATCACCTCTTAATACTACCACCTCTTA ATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAAT ACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATAC TACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTA CCACCTCTTAATACTATCACCTCTTAATACTA		CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding					2281		chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(809): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGAAGGG GCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAAATTGAAAT AAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATAAAACACTA TAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCTATGTAGTT AACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAATTGTGCAGT GAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGTACTTTGGA AGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATCCTAGAGGC AGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACATGAAGTGT GAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGGAGTTTCTC ATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGAATTATACG TTAAACAATAAGTCATATTTATTGAACCTCCATAGATATATATGTATGCT ATAAGCCAAAAAAAAAACAGATTCAAATAATTTTAGATATAAATTTAAAA CTATCAATATCAATAGGTCTAAATATTCATGGGCAATACATCCATACTAC ATATATATATATATATATATATATATATATATATATATATATATATATTT TTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCT CTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0010 a0003c0004t0010	a0003c0004t0010g0322 a0003c0004t0010g0322	1	336	0.0030	816	c.248 others(833): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCA AAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCG TTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAA ATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGG AAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGA CAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAA ATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGT GGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAG TTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAG AAGGAATTATACGTTAAACAATAAGTCATATTTATTGAACCTCCATAGAT ATATATGTATGCTATAAGCCAAAAAAAAAACAGATTCAAATAATTTTAGA TATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAAT ACATCCATACTACATATATATATATATATATATATATATATATATATATA TATATATATATTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGAG ATGAAGTCTCGCTCTGTCGCCCATGCTGGAGTGCAGTG		CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(809): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGAAGGG GCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAAATTGAAAT AAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATAAAACACTA TAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCTATGTAGTT AACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAATTGTGCAGT GAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGTACTTTGGA AGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATCCTAGAGGC AGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACATGAAGTGT GAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGGAGTTTCTC ATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGAATTATACG TTAAACAATAAGTCATATTTATTGAACCTCCATAGATATATATGTATGCT ATAAGCCAAAAAAAAAACAGATTCAAATAATTTTAGATATAAATTTAAAA CTATCAATATCAATAGGTCTAAATATTCATGGGCAATACATCCATACTAC ATATATATATATATATATATATATATATATATATATATTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCT CTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0013 a0005c0006t0013	a0005c0006t0013g0305 a0005c0006t0013g0305	1	336	0.0030	816	c.248 others(833): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCA AAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCG TTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAA ATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGG AAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGA CAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAA ATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGT GGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAG TTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAG AAGGAATTATACGTTAAACAATAAGTCATATTTATTGAACCTCCATAGAT ATATATGTATGCTATAAGCCAAAAAAAAAACAGATTCAAATAATTTTAGA TATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAAT ACATCCATACTACATATATATATATATATATATATATATATATATATATA TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGAG ATGAAGTCTCGCTCTGTCGCCCATGCTGGAGTGCAGTG		CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(809): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATATATATATATA TATATTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCT CTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0152 a0001c0001t0017g0152	1	336	0.0030	816	c.248 others(833): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATATATATATATATATATTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGAG ATGAAGTCTCGCTCTGTCGCCCATGCTGGAGTGCAGTG		CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr11	TogoVar
CFAP46_chr10_132803392_132947570	132822265	G G	GTGAGTGC others(809): Show GTGAGTGCTGATGTGTGCTGTGTGTGCTGATGTGTGTTGTGTGTGCTGTG TGAGTGCTGATGTGTGCTGTGTGCGCTGTGTGCTGTGTGCTGATGTGTGC TGATGTGTGCTGTGTGCTGACGTGTGCTGTGTGTGCGCTGATGTGTGCTG TGTGTGTGCTGTGTGCTGTGTGTGCGCTGATGTGTGCTGTGTGTGTGCTG TGTGCTGTGTGAGTGCTGATGTGTGCTGTGTGTGCTGTGTGTGCTGATGT GTGCTGTGTGCTGATGTGTGCTGACGTGTGCTGTGTGCTGACGTGTGCTG TGTGTGCGCTGATGTGTGCTGTGTGTGTGCTGTGTGCTGTGTGAGTGCTG ATGTGTGCTGTGTGTTGTGTGAGTGCTGATGTGTGCTGTCTGTGCGCTGT GTGCTGTGTGAGCGCTGATGTGTGCTGTGTGTGCTGTGTGCTGTGTGTGC AGTGATGTGTGTTGTGTGAGTGCTGATGTGTGCTGTGTGTGCGCTGATGT GTGCTGTGTGCGCTTGTGTGTGCTGTGTGTGCGCTGATGTGTGCTGTGTG TGCGCTTGTGTGTGCTGTGTGTGCTGATGTGTGCTGTGTGAGTGCTGATG TGTGCTGATGTGTGCTGTGTGTGCTGATGTGTGCTGTGTGTGCAGTGATG TGTGCTGTGTGAGTGCTGATGTGTGCTGTGTGTGCACTTGTGTGTGCTGT GTGTGTGCTGATGTGTGCTGTGTGCTGTGTGTGCTGATGTGTGCTGATGT GTGCACTGTGTGCTGTGTGTGTGCTGATGTGTGCTGTGTGCGGTGATGTG TGCTGTGTGTGCGCTGA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp2 HG00609.hp2 others(1): Show HG00438.hp1 HG00558.hp2 HG00609.hp2 HG02135.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 others(1): Show a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0190	4	246	0.0163	816	c.711 others(835): Show c.7118-7352_7118-7351insTCAGCGCACACACAGCACACATCACC GCACACAGCACACATCAGCACACACACAGCACACAGTGCACACATCAGCA CACATCAGCACACACAGCACACAGCACACATCAGCACACACACAGCACAC ACAAGTGCACACACAGCACACATCAGCACTCACACAGCACACATCACTGC ACACACAGCACACATCAGCACACACAGCACACATCAGCACACATCAGCAC TCACACAGCACACATCAGCACACACAGCACACACAAGCGCACACACAGCA CACATCAGCGCACACACAGCACACACAAGCGCACACAGCACACATCAGCG CACACACAGCACACATCAGCACTCACACAACACACATCACTGCACACACA GCACACAGCACACACAGCACACATCAGCGCTCACACAGCACACAGCGCAC AGACAGCACACATCAGCACTCACACAACACACAGCACACATCAGCACTCA CACAGCACACAGCACACACACAGCACACATCAGCGCACACACAGCACACG TCAGCACACAGCACACGTCAGCACACATCAGCACACAGCACACATCAGCA CACACAGCACACACAGCACACATCAGCACTCACACAGCACACAGCACACA CACAGCACACATCAGCGCACACACAGCACACAGCACACACACAGCACACA TCAGCGCACACACAGCACACGTCAGCACACAGCACACATCAGCACACATC AGCACACAGCACACAGCGCACACAGCACACATCAGCACTCACACAGCACA CACAACACACATCAGCACACACAGCACACATCAGCACTCA		CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57						chr10	TogoVar
COL4A2_chr13_110302284_110518209	110385530	C C	CGTGGATA others(809): Show CGTGGATAGGCCGTGGTTACAGTGCGTGGATAGACCGTGGTTACAGTGCG TGGATAGGCCGTGGTTACAGTGCGTGGATAGGCTGTGGTTACAGTGTGTG GATAGACTGTGGTTACAGTGCGTGGATAGACCGTGGTTACAGTGTGTGGA TAGGCCGTGGTTACAGTGCGTGGATAGACTGTGGTTACAGTGTCTGGATA GACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTGCAGTGTGTGGATAGG CCGTGGTTGCAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCC GTGGTTACAGCGTGTGGATAGACCGTGGTTACAGCGTGTGGATAGGCTGT GGTTACAGCGTGTGGATAGGCCGTGGTTACAGCGTGTGGATAGGCCGTGG TTACAGCGTGTGGATAGGCCATGGTTACAGCGTGTGGATAGGCCGTGGTT ACAGCGTGTCGATGGGCCGTGGTCACAGCGTGTGGATGGGCCGTGGTCAC AGCGTGTGGATGGGCCGTGGTCACAGCGTGTGGATGGGCCGTGGTTACAG TGCGTGGATAGGCCGTGGTTACAGTGCGTGGATAGGCCGTGGTTACAGTG CGTGGATAGACCGTGGTTACAGTGCGTGGATAGACCGTGGTTACAGTGCG TGGATAGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTG GATAGGCCGTGGTTACAGTGCGTGGATAGACCGTGGTTACAGTGTGTGGA TAGACCGTGGCTGCAGTGTGTGGATAGGCCATGGTTGCAGTGTGTGGATA GGCCGTGGCTGCAGTGT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0011 a0011	a0011c0032 a0011c0032	a0011c0032t0003 a0011c0032t0003	a0011c0032t0003g0123 a0011c0032t0003g0123	1	372	0.0027	816	c.180 others(835): Show c.180+27995_180+27996insACAGTGCGTGGATAGACCGTGGTTAC AGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATAGGCTGTGGTTACAG TGTGTGGATAGACTGTGGTTACAGTGCGTGGATAGACCGTGGTTACAGTG TGTGGATAGGCCGTGGTTACAGTGCGTGGATAGACTGTGGTTACAGTGTC TGGATAGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTGCAGTGTGTG GATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGA TAGGCCGTGGTTACAGCGTGTGGATAGACCGTGGTTACAGCGTGTGGATA GGCTGTGGTTACAGCGTGTGGATAGGCCGTGGTTACAGCGTGTGGATAGG CCGTGGTTACAGCGTGTGGATAGGCCATGGTTACAGCGTGTGGATAGGCC GTGGTTACAGCGTGTCGATGGGCCGTGGTCACAGCGTGTGGATGGGCCGT GGTCACAGCGTGTGGATGGGCCGTGGTCACAGCGTGTGGATGGGCCGTGG TTACAGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATAGGCCGTGGTT ACAGTGCGTGGATAGACCGTGGTTACAGTGCGTGGATAGACCGTGGTTAC AGTGCGTGGATAGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAG TGTGTGGATAGGCCGTGGTTACAGTGCGTGGATAGACCGTGGTTACAGTG TGTGGATAGACCGTGGCTGCAGTGTGTGGATAGGCCATGGTTGCAGTGTG TGGATAGGCCGTGGCTGCAGTGTGTGGATAGGCCGTGGTT		COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47					INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110385546	T T	TTACAGTG others(809): Show TTACAGTGCGTGGATAGACCGTGGTTACAGTGCGTGGATAGGCCGTGGTT ACAGTGCGTGGATAGGCTGTGGTTACAGTGCGTGGATAGACTGTGGTTAC AGTGCGTGGATAGACTGTGGTTACAGTGCGTGGATAGGCCGTGGTTACAG TGCGTGGATAGACCGTGGTTACAGTGTCTGGATAGACCGTGGTTACAGTG TGTGGATAGACCGTGGTTGCAGTGTGTGGATAGGCCGTGGTTGCAGTGTG TGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTG GATAGACCGTGGTTACAGCGTGTGGATAGGCTGTGGTTACAGCGTGTGGA TAGGCCGTGGTTACAGCGTGTGGATAGGCCGTGGTTACAGCGTGTGGATA GGCCATGGTCACAGCGTGTGGATAGGCCGTGGTCACAGCGTGTCGATGGG CCGTGGTCACAGCGTGTGGATGGGCCGTGGTCACAGCGTGTGGATGGGCC GTGGTCACAGCGTGTGGATGGGCCGTGGTTACAGTGCGTGGATAGGCCGT GGTTACAGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATAGACCGTGG TTACAGTGCGTGGATAGACCGTGGTTACAGTGCGTGGATAGACCGTGGTT ACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTAC AGTGCGTGGATAGACCGTGGTTACAGTGTGTGGATAGACCGTGGCTGCAG TGTGTGGATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGGCTGCAGTG TGTGGATAGGCCGTGGC	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA19079.hp1 NA18971.hp2 NA19079.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0009 a0001c0005t0003 a0001c0005t0009	a0001c0005t0003g0052 a0001c0005t0009g0013 a0001c0005t0003g0052 a0001c0005t0009g0013	2	372	0.0054	816	c.180 others(835): Show c.180+27995_180+27996insACAGTGCGTGGATAGACCGTGGTTAC AGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATAGGCTGTGGTTACAG TGCGTGGATAGACTGTGGTTACAGTGCGTGGATAGACTGTGGTTACAGTG CGTGGATAGGCCGTGGTTACAGTGCGTGGATAGACCGTGGTTACAGTGTC TGGATAGACCGTGGTTACAGTGTGTGGATAGACCGTGGTTGCAGTGTGTG GATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGA TAGGCCGTGGTTACAGTGTGTGGATAGACCGTGGTTACAGCGTGTGGATA GGCTGTGGTTACAGCGTGTGGATAGGCCGTGGTTACAGCGTGTGGATAGG CCGTGGTTACAGCGTGTGGATAGGCCATGGTCACAGCGTGTGGATAGGCC GTGGTCACAGCGTGTCGATGGGCCGTGGTCACAGCGTGTGGATGGGCCGT GGTCACAGCGTGTGGATGGGCCGTGGTCACAGCGTGTGGATGGGCCGTGG TTACAGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATAGGCCGTGGTT ACAGTGCGTGGATAGACCGTGGTTACAGTGCGTGGATAGACCGTGGTTAC AGTGCGTGGATAGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAG TGTGTGGATAGGCCGTGGTTACAGTGCGTGGATAGACCGTGGTTACAGTG TGTGGATAGACCGTGGCTGCAGTGTGTGGATAGGCCGTGGTTGCAGTGTG TGGATAGGCCGTGGCTGCAGTGTGTGGATAGGCCGTGGCT		COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47					INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110385546	T T	TTACAGTG others(809): Show TTACAGTGCGTGGATAGACCGTGGTTACAGTGCGTGGATAGGCCGTGGTT ACAGTGCGTGGATAGGCTGTGGTTACAGTGTGTGGATAGACTGTGGTTAC AGTGCGTGGATAGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAG TGCGTGGATAGACTGTGGTTACAGTGTCTGGATAGACCGTGGTTACAGTG TGTGGATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGGTTGCAGTGTG TGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGCGTGTG GATAGACCGTGGTTACAGCGTGTGGATAGGCTGTGGTTACAGCGTGTGGA TAGGCCGTGGTTACAGCGTGTGGATAGGCCGTGGTTACAGCGTGTGGATA GGCCGTGGTTACAGCGTGTCGATGGGCCGTGGTCACAGCGTGTGGATGGG CCGTGGTCACAGCGTGTGGATGGGCCGTGGTCACAGCGTGTGGATAGGCC GTGGTTACAGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATAGGCCGT GGTTACAGTGCGTGGATAGACCGTGGTTACAGTGCGTGGATAGACCGTGG TTACAGTGCGTGGATAGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTT ACAGTGTGTGGATAGGCCGTGGTTACAGTGCGTGGATAGGCCGTGGTTAC AGTGCGTGGATAGACCGTGGCTGCAGTGTGTGGATAGGCCGTGGTTGCAG TGTGTGGATAGGCCGTGGCTGCAGTGTGTGGATAGGCCGTGGCTGCAGTG TGTGGATAGACCGTGGC	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0135 a0001c0001t0003g0135	1	372	0.0027	816	c.180 others(835): Show c.180+27995_180+27996insACAGTGCGTGGATAGACCGTGGTTAC AGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATAGGCTGTGGTTACAG TGTGTGGATAGACTGTGGTTACAGTGCGTGGATAGACCGTGGTTACAGTG TGTGGATAGGCCGTGGTTACAGTGCGTGGATAGACTGTGGTTACAGTGTC TGGATAGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTGCAGTGTGTG GATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGA TAGGCCGTGGTTACAGCGTGTGGATAGACCGTGGTTACAGCGTGTGGATA GGCTGTGGTTACAGCGTGTGGATAGGCCGTGGTTACAGCGTGTGGATAGG CCGTGGTTACAGCGTGTGGATAGGCCGTGGTTACAGCGTGTCGATGGGCC GTGGTCACAGCGTGTGGATGGGCCGTGGTCACAGCGTGTGGATGGGCCGT GGTCACAGCGTGTGGATAGGCCGTGGTTACAGTGCGTGGATAGGCCGTGG TTACAGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATAGACCGTGGTT ACAGTGCGTGGATAGACCGTGGTTACAGTGCGTGGATAGACCGTGGTTAC AGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAG TGCGTGGATAGGCCGTGGTTACAGTGCGTGGATAGACCGTGGCTGCAGTG TGTGGATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGGCTGCAGTGTG TGGATAGGCCGTGGCTGCAGTGTGTGGATAGACCGTGGCT		COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47					INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110385546	T T	TTACAGTG others(809): Show TTACAGTGCGTGGATAGACCGTGGTTACAGTGCGTGGATAGGCCGTGGTT ACAGTGCGTGGATAGGCTGTGGTTACAGTGTGTGGATAGACTGTGGTTAC AGTGCGTGGATAGACTGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAG TGCGTGGATAGACTGTGGTTACAGTGTCTGGATAGACCGTGGTTACAGTG TGTGGATAGACCGTGGTTGCAGTGTGTGGATAGGCCGTGGTTGCAGTGTG TGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGCGTGTG GATAGACCGTGGTTACAGCGTGTGGATAGGCTGTGGTTACAGCGTGTGGA TAGGCCGTGGTTACAGCGTGTGGATAGGCCGTGGTTACAGCGTGTGGATA GGCCATGGTCACAGCGTGTGGATAGGCCGTGGTCACAGCGTGTCGATGGG CCGTGGTCACAGCGTGTGGATGGGCCGTGGTCACAGCGTGTGGATGGGCC GTGGTCACAGCGTGTGGATGGGCCGTGGTTACAGTGCGTGGATAGGCCGT GGTTACAGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATAGACCGTGG TTACAGTGCGTGGATAGACCGTGGTTACAGTGCGTGGATAGACCGTGGTT ACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTAC AGTGCGTGGATAGACCGTGGTTACAGTGTGTGGATAGACCGTGGCTGCAG TGTGTGGATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGGCTGCAGTG TGTGGATAGGCCGTGGC	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0331 a0001c0004t0004g0331	1	372	0.0027	816	c.180 others(835): Show c.180+27995_180+27996insACAGTGCGTGGATAGACCGTGGTTAC AGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATAGGCTGTGGTTACAG TGTGTGGATAGACTGTGGTTACAGTGCGTGGATAGACTGTGGTTACAGTG TGTGGATAGGCCGTGGTTACAGTGCGTGGATAGACTGTGGTTACAGTGTC TGGATAGACCGTGGTTACAGTGTGTGGATAGACCGTGGTTGCAGTGTGTG GATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGA TAGGCCGTGGTTACAGCGTGTGGATAGACCGTGGTTACAGCGTGTGGATA GGCTGTGGTTACAGCGTGTGGATAGGCCGTGGTTACAGCGTGTGGATAGG CCGTGGTTACAGCGTGTGGATAGGCCATGGTCACAGCGTGTGGATAGGCC GTGGTCACAGCGTGTCGATGGGCCGTGGTCACAGCGTGTGGATGGGCCGT GGTCACAGCGTGTGGATGGGCCGTGGTCACAGCGTGTGGATGGGCCGTGG TTACAGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATAGGCCGTGGTT ACAGTGCGTGGATAGACCGTGGTTACAGTGCGTGGATAGACCGTGGTTAC AGTGCGTGGATAGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAG TGTGTGGATAGGCCGTGGTTACAGTGCGTGGATAGACCGTGGTTACAGTG TGTGGATAGACCGTGGCTGCAGTGTGTGGATAGGCCGTGGTTGCAGTGTG TGGATAGGCCGTGGCTGCAGTGTGTGGATAGGCCGTGGCT		COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47					INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110385546	T T	TTACAGTG others(809): Show TTACAGTGCGTGGATAGACCGTGGTTACAGTGCGTGGATAGGCCGTGGTT ACAGTGCGTGGATAGGCTGTGGTTACAGTGTGTGGATAGACTGTGGTTAC AGTGCGTGGATAGACTGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAG TGCGTGGATAGACTGTGGTTACAGTGTCTGGATAGACCGTGGTTACAGTG TGTGGATAGACCGTGGTTGCAGTGTGTGGATAGGCCGTGGTTGCAGTGTG TGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTG GATAGACCGTGGTTACAGCGTGTGGATAGGCCGTGGTTACAGCGTGTGGA TAGGCCGTGGTTACAGCGTGTGGATAGGCCGTGGTCACAGCGTGTGGATA GGCCGTGGTCACAGCGTGTGGATAGGCCGTGGTCACAGCGTGTCGATGGG CCGTGGTCACAGCGTGTGGATGGGCCGTGGTCACAGCGTGTGGATGGGCC GTGGTCACAGCGTGTGGATGGGCCGTGGTTACAGTGCGTGGATAGGCCGT GGTTACAGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATAGACCGTGG TTACAGTGCGTGGATAGACCGTGGTTACAGTGCGTGGATAGGCCGTGGTT ACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTAC AGTGCGTGGATAGACCGTGGTTACAGTGTGTGGATAGACCGTGGCTGCAG TGTGTGGATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGGCTGCAGTG TGTGGATAGGCCGTGGC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0004 a0004	a0004c0030 a0004c0030	a0004c0030t0001 a0004c0030t0001	a0004c0030t0001g0113 a0004c0030t0001g0113	1	372	0.0027	816	c.180 others(835): Show c.180+27995_180+27996insACAGTGCGTGGATAGACCGTGGTTAC AGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATAGGCTGTGGTTACAG TGTGTGGATAGACTGTGGTTACAGTGCGTGGATAGACTGTGGTTACAGTG TGTGGATAGGCCGTGGTTACAGTGCGTGGATAGACTGTGGTTACAGTGTC TGGATAGACCGTGGTTACAGTGTGTGGATAGACCGTGGTTGCAGTGTGTG GATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGA TAGGCCGTGGTTACAGTGTGTGGATAGACCGTGGTTACAGCGTGTGGATA GGCCGTGGTTACAGCGTGTGGATAGGCCGTGGTTACAGCGTGTGGATAGG CCGTGGTCACAGCGTGTGGATAGGCCGTGGTCACAGCGTGTGGATAGGCC GTGGTCACAGCGTGTCGATGGGCCGTGGTCACAGCGTGTGGATGGGCCGT GGTCACAGCGTGTGGATGGGCCGTGGTCACAGCGTGTGGATGGGCCGTGG TTACAGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATAGGCCGTGGTT ACAGTGCGTGGATAGACCGTGGTTACAGTGCGTGGATAGACCGTGGTTAC AGTGCGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAG TGTGTGGATAGGCCGTGGTTACAGTGCGTGGATAGACCGTGGTTACAGTG TGTGGATAGACCGTGGCTGCAGTGTGTGGATAGGCCGTGGTTGCAGTGTG TGGATAGGCCGTGGCTGCAGTGTGTGGATAGGCCGTGGCT		COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47					INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110385546	T T	TTACAGTG others(809): Show TTACAGTGCGTGGATAGACCGTGGTTACAGTGCGTGGATAGGCCGTGGTT ACAGTGCGTGGATAGGCTGTGGTTACAGTGTGTGGATAGACTGTGGTTAC AGTGCGTGGATAGACTGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAG TGCGTGGATAGACTGTGGTTACAGTGTCTGGATAGACCGTGGTTACAGTG TGTGGATAGACCGTGGTTGCAGTGTGTGGATAGGCCGTGGTTGCAGTGTG TGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTG GATAGACCGTGGTTACAGCGTGTGGATAGGCTGTGGTTACAGCGTGTGGA TAGGCCGTGGTTACAGCGTGTGGATAGGCCGTGGTTACAGCGTGTGGATA GGCCATGGTCACAGCGTGTGGATAGGCCGTGGTCACAGCGTGTCGATGGG CCGTGGTCACAGCGTGTGGATGGGCCGTGGTCACAGCGTGTGGATGGGCC GTGGTCACAGCGTGTGGATGGGCCGTGGTTACAGTGCGTGGATAGGCCGT GGTTACAGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATAGACCGTGG TTACAGTGCGTGGATAGACCGTGGTTACAGTGCGTGGATAGACCGTGGTT ACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTAC AGTGCGTGGATAGACCGTGGTTACAGTGTGTGGATAGACCGTGGCTGCAG TGTGTGGATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGGCTGCAGTG TGTAGATAGGCCGTGGC	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0052 a0001c0052	a0001c0052t0003 a0001c0052t0003	a0001c0052t0003g0141 a0001c0052t0003g0141	1	372	0.0027	816	c.180 others(835): Show c.180+27995_180+27996insACAGTGCGTGGATAGACCGTGGTTAC AGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATAGGCTGTGGTTACAG TGTGTGGATAGACTGTGGTTACAGTGCGTGGATAGACTGTGGTTACAGTG TGTGGATAGGCCGTGGTTACAGTGCGTGGATAGACTGTGGTTACAGTGTC TGGATAGACCGTGGTTACAGTGTGTGGATAGACCGTGGTTGCAGTGTGTG GATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGA TAGGCCGTGGTTACAGTGTGTGGATAGACCGTGGTTACAGCGTGTGGATA GGCTGTGGTTACAGCGTGTGGATAGGCCGTGGTTACAGCGTGTGGATAGG CCGTGGTTACAGCGTGTGGATAGGCCATGGTCACAGCGTGTGGATAGGCC GTGGTCACAGCGTGTCGATGGGCCGTGGTCACAGCGTGTGGATGGGCCGT GGTCACAGCGTGTGGATGGGCCGTGGTCACAGCGTGTGGATGGGCCGTGG TTACAGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATAGGCCGTGGTT ACAGTGCGTGGATAGACCGTGGTTACAGTGCGTGGATAGACCGTGGTTAC AGTGCGTGGATAGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAG TGTGTGGATAGGCCGTGGTTACAGTGCGTGGATAGACCGTGGTTACAGTG TGTGGATAGACCGTGGCTGCAGTGTGTGGATAGGCCGTGGTTGCAGTGTG TGGATAGGCCGTGGCTGCAGTGTGTAGATAGGCCGTGGCT		COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47					INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110385546	T T	TTACAGTG others(809): Show TTACAGTGCGTGGATAGACCGTGGTTACAGTGCGTGGATAGGCCGTGGTT ACAGTGCGTGGATAGGCTGTGGTTACAGTGTGTGGATAGACTGTGGTTAC AGTGCGTGGATAGACTGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAG TGCGTGGATAGACTGTGGTTACAGTGTCTGGATAGACCGTGGTTACAGTG TGTGGATAGACCGTGGTTGCAGTGTGTGGATAGGCCGTGGTTGCAGTGTG TGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTG GATAGACCGTGGTTACAGCGTGTGGATAGGCTGTGGTTACAGCGTGTGGA TAGGCCGTGGTTACAGCGTGTGGATAGGCCGTGGTTACAGCGTGTGGATA GGCCATGGTCACAGCGTGTGGATAGGCCGTGGTCACAGCGTGTCGATGGG CCGTGGTCACAGCGTGTGGATGGGCCGTGGTCACAGCGTGTGGATGGGCC GTGGTCACAGCGTGTGGATGGGCCGTGGTTACAGTGCGTGGATAGGCCGT GGTTACAGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATAGACCGTGG TTACAGTGCGTGGATAGACCGTGGTTACAGTGCGTGGATAGACCGTGGTT ACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTAC AGTGCGTGGATAGACCGTGGTTACAGTGTGTGGATAGACCGTGGCTGCAG TGTGTGGATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGGCTGCAGTG TGTGGATAGGCCGTGGC	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0003 a0004c0012t0003	a0004c0012t0003g0077 a0004c0012t0003g0077	1	372	0.0027	816	c.180 others(835): Show c.180+27995_180+27996insACAGTGCGTGGATAGACCGTGGTTAC AGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATAGGCTGTGGTTACAG TGTGTGGATAGACTGTGGTTACAGTGCGTGGATAGACTGTGGTTACAGTG TGTGGATAGGCCGTGGTTACAGTGCGTGGATAGACTGTGGTTACAGTGTC TGGATAGACCGTGGTTACAGTGTGTGGATAGACCGTGGTTGCAGTGTGTG GATAGGCCGTGGTTGCAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGA TAGGCCGTGGTTACAGTGTGTGGATAGACCGTGGTTACAGCGTGTGGATA GGCTGTGGTTACAGCGTGTGGATAGGCCGTGGTTACAGCGTGTGGATAGG CCGTGGTTACAGCGTGTGGATAGGCCATGGTCACAGCGTGTGGATAGGCC GTGGTCACAGCGTGTCGATGGGCCGTGGTCACAGCGTGTGGATGGGCCGT GGTCACAGCGTGTGGATGGGCCGTGGTCACAGCGTGTGGATGGGCCGTGG TTACAGTGCGTGGATAGGCCGTGGTTACAGTGCGTGGATAGGCCGTGGTT ACAGTGCGTGGATAGACCGTGGTTACAGTGCGTGGATAGACCGTGGTTAC AGTGCGTGGATAGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAG TGTGTGGATAGGCCGTGGTTACAGTGCGTGGATAGACCGTGGTTACAGTG TGTGGATAGACCGTGGCTGCAGTGTGTGGATAGGCCGTGGTTGCAGTGTG TGGATAGGCCGTGGCTGCAGTGTGTGGATAGGCCGTGGCT		COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47					INFO_REALIGN_3_PRIME	chr13	TogoVar
CSMD1_chr8_2930361_4999914	4258514	G G	GGAGGGAG others(809): Show GGAGGGAGGGAGGGAGGGAGGGGAGGATGGAAGGAGGGAGGGAGGGGAGG ACAGAGGGAGGGAGGGAGGGGAGGATGGAAGGAGGGAGGGAGGGGAGGAC AGAGGGAGGGAGGGAGGGGAGGATGGAAGGAGGGAGGGAGGGGAGGACAG AGGGAGGGAGGGAGGGGAGGATGGAAGGAGGGAGGGAGGGGAGGACAGAG GGAGGGAGGGAGGGGAGGACGGAAGGAGGGAAGGAGGGAGGCGAGGCTAG AAGGAGGGAGGGATGGAGGGAGGGATGGAAGGATGGAGGGAGGAAAGAAT GGAGGGAGGGAGGGAAGAATGGAGGGAGGGAGGGAGGGAAGAATGGAGGA AGGGAGGGAGGGAGGGAAGAATGGAGGAAGGGAGGGAGGGAGGGAAGAAT GGAGGGAAGAATGGAGGGAGGGAGGGAGGGAGGGAAGAATGGAGGGAGGG AGGGAAGGAAGAATGGAGGGAGGTAAGAATGGAGGGAGGGAGGGAAGAAT GCAGGGAGGGAGGGAGGGAAGAATGCAGAGAGGGAGGGAAGAATGGAAGA ATGGAGGGAGGGAAGAATGGAGGGAGGGAAGAGTGGAAGAATGGAGAGAG GGAAGAGTGGAAGAATGGAGGGAGGGAAGAGTGGAAAAATGGAGGGAGCG AGTGAGGGAGGGAAGAATGGAAGAATGGAAGAATGGAGGGAGGGAAGAAT GCAAGACTGGAGGGAGGGAAGAATGCAAGACTGGAGGGAGGGAAGAATGG AAGAATGGACGGAAGGAAGAGTGGAAGAATGGAGGGAGGGAGGGAGGGAG GCAGGGAAGAGTGGAAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0115 a0001c0115	a0001c0115t0042 a0001c0115t0042	a0001c0115t0042g0055 a0001c0115t0042g0055	1	126	0.0079	816	c.415 others(837): Show c.415+161438_415+161439insGTTCCACTCTTCCCTGCCTCCCTC CCTCCCTCCCTCCATTCTTCCACTCTTCCTTCCGTCCATTCTTCCATTCT TCCCTCCCTCCAGTCTTGCATTCTTCCCTCCCTCCAGTCTTGCATTCTTC CCTCCCTCCATTCTTCCATTCTTCCATTCTTCCCTCCCTCACTCGCTCCC TCCATTTTTCCACTCTTCCCTCCCTCCATTCTTCCACTCTTCCCTCTCTC CATTCTTCCACTCTTCCCTCCCTCCATTCTTCCCTCCCTCCATTCTTCCA TTCTTCCCTCCCTCTCTGCATTCTTCCCTCCCTCCCTCCCTGCATTCTTC CCTCCCTCCCTCCATTCTTACCTCCCTCCATTCTTCCTTCCCTCCCTCCC TCCATTCTTCCCTCCCTCCCTCCCTCCCTCCATTCTTCCCTCCATTCTTC CCTCCCTCCCTCCCTTCCTCCATTCTTCCCTCCCTCCCTCCCTTCCTCCA TTCTTCCCTCCCTCCCTCCCTCCATTCTTCCCTCCCTCCCTCCATTCTTT CCTCCCTCCATCCTTCCATCCCTCCCTCCATCCCTCCCTCCTTCTAGCCT CGCCTCCCTCCTTCCCTCCTTCCGTCCTCCCCTCCCTCCCTCCCTCTGTC CTCCCCTCCCTCCCTCCTTCCATCCTCCCCTCCCTCCCTCCCTCTGTCCT CCCCTCCCTCCCTCCTTCCATCCTCCCCTCCCTCCCTCCCTCTGTCCTCC CCTCCCTCCCTCCTTCCATCCTCCCCTCCCTCCCTCCCTCTGTCCTCCCC TCCCTCCCTCCTTCCATCCTCCCCTCCCTCCCTCCCTCCCTC		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69						chr8	TogoVar
DOCK8_chr9_209865_470255	400034	C C	CCACCACC others(809): Show CCACCACCAGCACTTCCACCATCACCATCACCACCTCCACCATCACCACC ACCTCCACCATCACCACCACCACCTCCACCATCACCACCACCACCTCCAC CATCACCACCACCTCCACCATCACCACCACCACCTCCACCATCACCACCA CCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCACCATCACC ACCACCTCCACCATCACCACCACCACCTCCACCATCACCACCTCCTTCAC CATCACCATCACCTCCACCTCCACCATCACCACCACCACCTCCACCATCA CCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCACCTCC ACCATCACCACCTCCTTCACCATCACCATCACCTCCACCTCCACCATCAC CACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCTCCA CCATCACCACCTCCTTCACCATCACCATCACCTCCACCTCCACCATCACC ACCACCACCTCCACCACCACCACCACCTCCACCATCACCACCACCTCCAC CATCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCA CCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCACCATCACC ACCACCACCACCTCCACCATCACCACCTCCTTCACCATCACCATCACCAC CACCTCCACCATCACCACCACCACCACCTCCACCATCACCACCTCCTTCA CCATCACCATCACCTCCACCTCCACCATCACCACCACCACCTCCACCATC ACCACCACCTCCACCAT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02129.hp2 HG02083.hp2 HG02129.hp2	a0002 a0012 a0002 a0012	a0002c0104 a0012c0165 a0002c0104 a0012c0165	a0002c0104t0005 a0012c0165t0005 a0002c0104t0005 a0012c0165t0005	a0002c0104t0005g0045 a0012c0165t0005g0017 a0002c0104t0005g0045 a0012c0165t0005g0017	2	256	0.0078	816	c.323 others(833): Show c.3234+783_3234+784insGCACTTCCACCATCACCATCACCACCTC CACCATCACCACCACCTCCACCATCACCACCACCACCTCCACCATCACCA CCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCACCTCC ACCATCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCAC CTCCACCATCACCACCACCTCCACCATCACCACCACCACCTCCACCATCA CCACCTCCTTCACCATCACCATCACCTCCACCTCCACCATCACCACCACC ACCTCCACCATCACCACCACCTCCACCATCACCACCACCTCCACCATCAC CACCACCACCTCCACCATCACCACCTCCTTCACCATCACCATCACCTCCA CCTCCACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCATC ACCACCACCTCCACCATCACCACCTCCTTCACCATCACCATCACCTCCAC CTCCACCATCACCACCACCACCTCCACCACCACCACCACCTCCACCATCA CCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCTCCACC ATCACCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCAC CTCCACCATCACCACCACCACCACCTCCACCATCACCACCTCCTTCACCA TCACCATCACCACCACCTCCACCATCACCACCACCACCACCTCCACCATC ACCACCTCCTTCACCATCACCATCACCTCCACCTCCACCATCACCACCAC CACCTCCACCATCACCACCACCTCCACCATCACCACCA		DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47					INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137716361	G G	GTGTTGGT others(809): Show GTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGG AGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCAT GGTGGGGGAGGAAATTGTGGTGTCGTGGTGGGGGAGGAAGTTGTGTTGGT GTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTT GTGTTGGTGTCATGGTGGGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGG GGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTC ATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTG GTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGG AAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGT GGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGT GTCATGGTGGGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAG TTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGG GGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTC GTGGTGGGGGAGGAAGTTGTGGTGGTGTCGTGGTGGGGGAGGAAGTTGTG TTGGTGTCGTGGTGGGGGAGGAAGTTGTGTTGGTGTCGTGGTGGGGGAGG AAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGT GGGGGAGGAAGTTGTGT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0005	1	170	0.0059	816	c.86- others(829): Show c.86-263_86-262insTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTG GTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAG TTGTGGTGGTGTCATGGTGGGGGAGGAAATTGTGGTGTCGTGGTGGGGGA GGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATG GTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGGGAGGAAGTTGTGT TGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGA AGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTG GGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTG TCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTG TGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGA GGAAGTTGTGTTGGTGTCATGGTGGGGGGGAGGAAGTTGTGTTGGTGTCA TGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGT TGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGA AGTTGTGGTGGTGTCGTGGTGGGGGAGGAAGTTGTGGTGGTGTCGTGGTG GGGGAGGAAGTTGTGTTGGTGTCGTGGTGGGGGAGGAAGTTGTGTTGGTG TCGTGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTG TGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTG		EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26					INFO_REALIGN_3_PRIME	chr9	TogoVar
FER_chr5_108742897_109201841	108930372	T T	TTCCCTCC others(809): Show TTCCCTCCCCTCTCCTCTCCCCTCCTTCCCCTCCCCTCTCCTCTCCCCTC CCCTCCCCCCTTCCTCTGCCCTCCCTTCCCCTCCCCCTCCTCCTCTCCTC TCCCCTCTTTTCCTCCCCTCCCCTTCTCCTCCCATCCCTTCCCTTATCCT CCCCTTCTCCTCCCCTCACCTTCTCCTCTCCTCCCCTCCCCTTCTCCTCT CCTCTCCTCCCCTCCCCTTCTCCTCTCCTCCTCTCACCTCCCTTCTCCTC CCCTCCCCTTCTCCTGTCCTCCCCTCCCCTTCTCCTCTCCTCCCCTTCTC TTCCCTTCCCCTCCCCTCCCCTTTTCCTCCCCTCCCTGCCCCTCCCCTCT CCTCCCGTCTCCTCCCTTCCCCTCTCTTCCCCTCCTCTTCTCCCCTCCCC TCCCCCTCTCCTCCCTTCCTCGCCCCTCCCCTTTTTCTCTCTTCCCCTCC CTTTCCCACCCCTTCTCCTCCCCTCTTCCCCTCTTTTCCCTCCCCTCCTT TTTTCCTCCCTTCCCCTCCCCTCCCTTCCCTTCCCCTCCCCTTCTTCTCC CCTCCCCTTCTCCTCTCCTCCCCTCCCCTCCCCTTTTCCACCCCTTTTCC TCTTCTTTTCTTCCTCTCCCCTCTCCTCCCCTCCCCTCTGCCTCTCCTCC CCTCCCCTCTGCCTCTCCTCCCCTCCCCTTTTTCTCCCCTCCCCTCCCTG CCTCTTCTCCTTTCCTCCCTTCCCCTCCCCTCCCCTCTCCTTTCCCTCCC CTCCCCTCCCTTTCCTGCCCCTTCTCCTCACCTCTCTTCCCCTCCCCTCT CTTCCCCTCTCCTTTCC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0007 a0001c0010t0007	a0001c0010t0007g0134 a0001c0010t0007g0134	1	138	0.0073	816	c.123 others(837): Show c.1237-15754_1237-15753insTCCCCTCTCCTCTCCCCTCCTTCC CCTCCCCTCTCCTCTCCCCTCCCCTCCCCCCTTCCTCTGCCCTCCCTTCC CCTCCCCCTCCTCCTCTCCTCTCCCCTCTTTTCCTCCCCTCCCCTTCTCC TCCCATCCCTTCCCTTATCCTCCCCTTCTCCTCCCCTCACCTTCTCCTCT CCTCCCCTCCCCTTCTCCTCTCCTCTCCTCCCCTCCCCTTCTCCTCTCCT CCTCTCACCTCCCTTCTCCTCCCCTCCCCTTCTCCTGTCCTCCCCTCCCC TTCTCCTCTCCTCCCCTTCTCTTCCCTTCCCCTCCCCTCCCCTTTTCCTC CCCTCCCTGCCCCTCCCCTCTCCTCCCGTCTCCTCCCTTCCCCTCTCTTC CCCTCCTCTTCTCCCCTCCCCTCCCCCTCTCCTCCCTTCCTCGCCCCTCC CCTTTTTCTCTCTTCCCCTCCCTTTCCCACCCCTTCTCCTCCCCTCTTCC CCTCTTTTCCCTCCCCTCCTTTTTTCCTCCCTTCCCCTCCCCTCCCTTCC CTTCCCCTCCCCTTCTTCTCCCCTCCCCTTCTCCTCTCCTCCCCTCCCCT CCCCTTTTCCACCCCTTTTCCTCTTCTTTTCTTCCTCTCCCCTCTCCTCC CCTCCCCTCTGCCTCTCCTCCCCTCCCCTCTGCCTCTCCTCCCCTCCCCT TTTTCTCCCCTCCCCTCCCTGCCTCTTCTCCTTTCCTCCCTTCCCCTCCC CTCCCCTCTCCTTTCCCTCCCCTCCCCTCCCTTTCCTGCCCCTTCTCCTC ACCTCTCTTCCCCTCCCCTCTCTTCCCCTCTCCTTTCCTCCC		FER	ENSG00000151422.14	transcript	ENST00000281092.9	protein_coding	10/19					INFO_REALIGN_3_PRIME	chr5	TogoVar
FOXP1_chr3_70949708_71588728	71435807	C C	CGGAGGGA others(809): Show CGGAGGGAGGGAAGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGG GAGGAAGGGACGGAGGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAAGAA GGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGG GAGGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGA CGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGG GAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAAGGAGGGAAGAAGGGA CGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGG GAAGGAGGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAGGGAGGGA CGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGG GAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGA CGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGG GAGGAAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGA CGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGG GAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGA CGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGG GAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGAGGGGA CGGAGGGAGGGAGGAAG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0062	a0001c0001t0062g0034 a0001c0001t0062g0034	1	96	0.0104	816	c.-16 others(837): Show c.-168+57618_-168+57619insCTTCCTCCCTCCCTCCGTCCCCTC CTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCT CCGTCCCTCCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTC CTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCT CCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCC CTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCT CCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTC CTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCT CCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCC CTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCTCCTTCCCTCCCT CCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTC TTCCCTCCTTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCT CCGTCCCTCCCTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCTTC CTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCCTCCCTCCGT CCCTCCCTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCTTCTTCC CTCCCTCCGTCCCTCCCTCCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCT CCGTCCCTTCCTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCC		FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20						chr3	TogoVar
FOXP1_chr3_70949708_71588728	71435807	C C	CGGAGGGA others(809): Show CGGAGGGAGGGAAGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGG GAGGAAGGGACGGAGGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAAGAA GGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGG GAGGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGA CGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGG GAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAAGGAGGGAAGAAGGGA CGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGG GAAGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGA CGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGG GAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGA CGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGG GAGGAAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGA CGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGG GAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGA CGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGG GAGGAAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGAGGGGA CGGAGGGAGGGAGGAAG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0033 a0001c0001t0040g0033	1	96	0.0104	816	c.-16 others(837): Show c.-168+57618_-168+57619insCTTCCTCCCTCCCTCCGTCCCCTC CTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCT CCGTCCCTCCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTC CTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCT CCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCC CTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCT CCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTC CTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCT CCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCC CTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCTTCCCTCCCT CCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTC TTCCCTCCTTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCT CCGTCCCTCCCTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCTTC CTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCCTCCCTCCGT CCCTCCCTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCTTCTTCC CTCCCTCCGTCCCTCCCTCCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCT CCGTCCCTTCCTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCC		FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20						chr3	TogoVar
GALNT9_chr12_132191372_132334589	132242337	A A	ACATCCTT others(809): Show ACATCCTTCCAGGGGCCCTCCCTATACCCATTACACACACGCCACACACC CTTCCCAGGGCCGTCCCTATACCCATTACACACACAACACACACCCTTCC AGGGGCCCTCCCTATACCCATTACACACACGCCACACACCCTTCCAGGGG CCGTCCCTATACCCATTACCCATTACACACACAACACACACTTCCCGGGG CCCTCCCTATACCCATTACACACACAACACGCCCCCTTCCCGGGGCCTTC CCTATACCCATTACACACACGCCACACACCCTTCCAGGGGCCCTCCCTAT ACCCATTACACACACGCCACACCCCCTTCCCGGGGCCCTCCCTATACTCA TTACACACACGCCACACCCCCTTCCCGGGGCCCTCCCTATACCCATTACA CACACAACACACACTTCCCGGGGCCCTCCCTATACCCATTACACAAACGC CACACCCCCTTCCCGGGGGGCCCTCCCTATACCCATTACACACACACCAC ACACCCTTCCAGGGGCCCTCCCTATACCCATTACACACACGCCACACACC CTTCCAGGGGCCCTCCCTATACCCATTACACGCACGCCACACACCCTTCC CAGGGTCGTCCCTATACCCATTACACACACAACACACACCCTTCCCAGGG CCGTCCCTATACCCATTACACACACAACACACACCCTTCCAGGGGCCCTC CCTATACCCATTACACACACACCACACCCCCTTCCCGGGGCCCTCCCTAT ACCCATTACACACACGCCACGCCCCCTTCCCGGGGCCCTCCCTATACCCA TTTACACACACGCCACG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0066 a0001c0002t0005g0066	1	183	0.0055	816	c.107 others(835): Show c.1077+5572_1077+5573insCGTGGCGTGTGTGTAAATGGGTATAG GGAGGGCCCCGGGAAGGGGGCGTGGCGTGTGTGTAATGGGTATAGGGAGG GCCCCGGGAAGGGGGTGTGGTGTGTGTGTAATGGGTATAGGGAGGGCCCC TGGAAGGGTGTGTGTTGTGTGTGTAATGGGTATAGGGACGGCCCTGGGAA GGGTGTGTGTTGTGTGTGTAATGGGTATAGGGACGACCCTGGGAAGGGTG TGTGGCGTGCGTGTAATGGGTATAGGGAGGGCCCCTGGAAGGGTGTGTGG CGTGTGTGTAATGGGTATAGGGAGGGCCCCTGGAAGGGTGTGTGGTGTGT GTGTAATGGGTATAGGGAGGGCCCCCCGGGAAGGGGGTGTGGCGTTTGTG TAATGGGTATAGGGAGGGCCCCGGGAAGTGTGTGTTGTGTGTGTAATGGG TATAGGGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGAGTATAG GGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGG GCCCCTGGAAGGGTGTGTGGCGTGTGTGTAATGGGTATAGGGAAGGCCCC GGGAAGGGGGCGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAA GTGTGTGTTGTGTGTGTAATGGGTAATGGGTATAGGGACGGCCCCTGGAA GGGTGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCTGGAAGGGTG TGTGTTGTGTGTGTAATGGGTATAGGGACGGCCCTGGGAAGGGTGTGTGG CGTGTGTGTAATGGGTATAGGGAGGGCCCCTGGAAGGATG		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GALNT9_chr12_132191372_132334589	132242337	A A	ACATCCTT others(809): Show ACATCCTTCCAGGGGCCCTCCCTATACCCATTACACACACGCCACACACC CTTCCCAGGGCCGTCCCTATACCCATTACACACACAACACACACCCTTCC AGGGGCCCTCCCTATACCCATTACACACACGCCACACACCCTTCCAGGGG CCGTCCCTATACCCATTACCCATTACACACACAACACACACTTCCCGGGG CCCTCCCTATACCCATTACACACACAACACGCCCCCTTCCCGGGGCCTTC CCTATACCCATTACACACACGCCACACACCCTTCCAGGGGCCCTCCCTAT ACCCATTACACACACGCCACACCCCCTTCCCGGGGCCCTCCCTATACTCA TTACACACACGCCACACCCCCTTCCCGGGGCCCTCCCTATACCCATTACA CACACAACACACACTTCCCGGGGCCCTCCCTATACCCATTACACAAACGC CACACCCCCTTCCCGGGGGGCCCTCCCTATACCCATTACACACACACCAC ACACCCTTCCAGGGGCCCTCCCTATACCCATTACACACACGCCACACACC CTTCCAGGGGCCCTCCCTATACCCATTACACGCACGCCACACACCCTTCC CAGGGTCGTCCCTATACCCATTACACACACAACACACACCCTTCCCAGGG CCGTCCCTATACCCATTACACACACAACACACACCCTTCCAGGGGCCCTC CCTATACCCATTACACACACACCACACCCCCTTCCCGGGGCCCTCCCTAT ACCCATTACACACACGCCACGCCCCCTTCCCGGGGCCCTCCCTATACCCA TTTACACACATGCCACG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0005 a0005	a0005c0023 a0005c0023	a0005c0023t0005 a0005c0023t0005	a0005c0023t0005g0028 a0005c0023t0005g0028	1	183	0.0055	816	c.107 others(835): Show c.1077+5572_1077+5573insCGTGGCATGTGTGTAAATGGGTATAG GGAGGGCCCCGGGAAGGGGGCGTGGCGTGTGTGTAATGGGTATAGGGAGG GCCCCGGGAAGGGGGTGTGGTGTGTGTGTAATGGGTATAGGGAGGGCCCC TGGAAGGGTGTGTGTTGTGTGTGTAATGGGTATAGGGACGGCCCTGGGAA GGGTGTGTGTTGTGTGTGTAATGGGTATAGGGACGACCCTGGGAAGGGTG TGTGGCGTGCGTGTAATGGGTATAGGGAGGGCCCCTGGAAGGGTGTGTGG CGTGTGTGTAATGGGTATAGGGAGGGCCCCTGGAAGGGTGTGTGGTGTGT GTGTAATGGGTATAGGGAGGGCCCCCCGGGAAGGGGGTGTGGCGTTTGTG TAATGGGTATAGGGAGGGCCCCGGGAAGTGTGTGTTGTGTGTGTAATGGG TATAGGGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGAGTATAG GGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGG GCCCCTGGAAGGGTGTGTGGCGTGTGTGTAATGGGTATAGGGAAGGCCCC GGGAAGGGGGCGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAA GTGTGTGTTGTGTGTGTAATGGGTAATGGGTATAGGGACGGCCCCTGGAA GGGTGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCTGGAAGGGTG TGTGTTGTGTGTGTAATGGGTATAGGGACGGCCCTGGGAAGGGTGTGTGG CGTGTGTGTAATGGGTATAGGGAGGGCCCCTGGAAGGATG		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GAS6_chr13_113815549_113869076	113817317	T T	TCCTCCCC others(809): Show TCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATACCCC CTCCCCCCACGGGACACATCCCTCCTCCCCCCACGGGACACATACCCCCT CCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCC CCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCT CCAGGGAACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCCCCCC ACGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCTCCAG GGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGG GACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGA CACATCCCCCCTCCCTCCACGGGACACATCCCCCCTCCCCCCAGGGGACA CATACCCCCTCCCTCCAGGGGACACATACCCCCTCCCTCCAGGGGACACA TCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGACACATC CCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCAGGGGACACATACC CCCTCCCTCCAGGGGACACATACCCCCTCCCTCCAGGGGACACATCCCCC CTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGACACATCCCCCCT CCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATACCCCCTCC CTCCAGGGGACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCT CCAGGGGACACATCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	143	0.0070	816	c.35 others(827): Show c.3546_*3547insGGGGATGTGTCCCCTGGAGGGAGGGGGGATGTGC CCCGAGGAGGGAGGGGGGATGTGTCCCCTGGAGGGAGGGGGTATGTGTCC CGTGGGGGGAGGGGGGATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCC TGGAGGGAGGGGGGATGTGCCCCGAGGAGGGAGGGGGGATGTGTCCCCTG GAGGGAGGGGGTATGTGTCCCCTGGAGGGAGGGGGTATGTGTCCCCTGGG GGGAGGGGGGATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCCTGGAGG GAGGGGGGATGTGCCCCGAGGAGGGAGGGGGGATGTGTCCCCTGGAGGGA GGGGGTATGTGTCCCCTGGAGGGAGGGGGTATGTGTCCCCTGGGGGGAGG GGGGATGTGTCCCGTGGAGGGAGGGGGGATGTGTCCCCTGGAGGGAGGGG GGATGTGCCCCGAGGAGGGAGGGGGGATGTGTCCCGTGGGGGGAGGGGGG ATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCCTGGAGGGAGGGGGGAT GTGTCCCGTGGGGGGAGGGGGGATGTGTCCCGTGGGGGGAGGGGGGATGT GTCCCGAGGAGGGAGGGGGGATGTGTTCCCTGGAGGGAGGGGGGATGTGT CCCGTGGGGGGAGGGGGGATGTGTCCCGTGGGGGGAGGGGGGATGTGTCC CGAGGAGGGAGGGGGGATGTGTCCCCTGGAGGGAGGGGGTATGTGTCCCG TGGGGGGAGGAGGGATGTGTCCCGTGGGGGGAGGGGGTATGTGTCCCGTG GGGGGAGGGGGGATGTGTCCCGTGGGGGGAGG		GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding					3231		chr13	TogoVar
GAS6_chr13_113815549_113869076	113817328	C C	CGGGACAC others(809): Show CGGGACACATCCCCCCTCCCCCCACGGGACACATACCCCCTCCCCCCACG GGACACATCCCTCCTCCCCCCACGGGACACATACCCCCTCCCTCCAGGGG ACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCCCCCCACGGGAT ACATCCCCCCTCCCTCCACGGGACACATCCCTCCTCCCCCCACGGGACAC ATCCCCCCTCCCCCCACGGGACACATACCCCCTCCCCCCACGGGACACAT CCCTCCTCCCCCCACGGGACACATACCCCCTCCCCCCACGGGACACATCC CCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCAGGGGACACATCCCC CCTCCCTCCTCGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCC TCCCCCCACGGGACACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTC CCTCCTCGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCC TCCAGGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCC CACGGGACACATACCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCT CGGGGCACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACG GGACACATCCCCCCTCCCCCCACGGGACACATACCCCCTCCCTCCAGGGG ACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGAC ACATCCCCCCTCCCCCCACGGGACACATACCCCCTCCCTCCAGGGGACAC ATCCCCCCTCCCTCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0116 a0001c0002t0001g0116	1	143	0.0070	816	c.35 others(827): Show c.3535_*3536insATGGAGGGAGGGGGGATGTGTCCCCTGGAGGGAG GGGGTATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCCTGGAGGGAGGG GGGATGTGCCCCGAGGAGGGAGGGGGGATGTGTCCCCTGGAGGGAGGGGG TATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCGTGGGGGGAGGGGGGA TGTGTCCCCTGGAGGGAGGGGGGATGTGCCCCGAGGAGGGAGGGGGGATG TGTCCCCTGGAGGGAGGGGGTATGTGTCCCGTGGGGGGAGGGGGGATGTG TCCCGTGGGGGGAGGGGGGATGTGTCCCCTGGAGGGAGGGGGGATGTGTC CCGTGGGGGGAGGGGGGATGTGTCCCGAGGAGGGAGGGGGGATGTGTCCC CTGGAGGGAGGGGGGATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCGT GGGGGGAGGGGGGATGTGTCCCGAGGAGGGAGGGGGGATGTGTCCCCTGG AGGGAGGGGGGATGTGTCCCCTGGAGGGAGGGGGGATGTGTCCCGTGGGG GGAGGGGGTATGTGTCCCGTGGGGGGAGGAGGGATGTGTCCCGTGGGGGG AGGGGGTATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCGTGGGGGGAG GAGGGATGTGTCCCGTGGAGGGAGGGGGGATGTATCCCGTGGGGGGAGGG GGGATGTGTCCCGAGGAGGGAGGGGGGATGTGTCCCCTGGAGGGAGGGGG TATGTGTCCCGTGGGGGGAGGAGGGATGTGTCCCGTGGGGGGAGGGGGTA TGTGTCCCGTGGGGGGAGGGGGGATGTGTCCC		GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding					3220		chr13	TogoVar
GAS6_chr13_113815549_113869076	113817338	C C	CCCCCCTC others(809): Show CCCCCCTCCCCCCACGGGACACATACCCCCTCCCCCCACGGGACACATCC CTCCTCCCCCCACGGGACACATACCCCCTCCCTCCAGGGGACACATCCCC CCTCCCTCCTCGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCC TCCCCCCACGGGACACATCCCCCCTCCCTCCAGGGAACACATCCCCCCTC CCTCCTCGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCC CCCACGGGACACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCC CACGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCTCCT CGGGGCACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCACG GGACACATCCCCCCTCCCCCCAGGGGACACATACCCCCTCCCTCCAGGGG ACACATACCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGGC ACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACAC ATCCCCCCTCCCCCCAGGGGACACATACCCCCTCCCTCCAGGGGACACAT ACCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGGCACATCC CCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACACATCCCC CCTCCCCCCACGGGACACATACCCCCTCCCTCCAGGGGACACATCCCCCC TCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTC CCCCCACGGGACACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	143	0.0070	816	c.35 others(827): Show c.3525_*3526insGATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCC CTGGAGGGAGGGGGGATGTGCCCCGAGGAGGGAGGGGGGATGTGTCCCCT GGAGGGAGGGGGTATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCGTGG GGGGAGGGGGGATGTGTCCCCTGGAGGGAGGGGGGATGTGCCCCGAGGAG GGAGGGGGGATGTGTCCCCTGGAGGGAGGGGGTATGTGTCCCCTGGAGGG AGGGGGTATGTGTCCCCTGGGGGGAGGGGGGATGTGTCCCGTGGGGGGAG GGGGGATGTGTCCCCTGGAGGGAGGGGGGATGTGCCCCGAGGAGGGAGGG GGGATGTGTCCCCTGGAGGGAGGGGGTATGTGTCCCCTGGAGGGAGGGGG TATGTGTCCCCTGGGGGGAGGGGGGATGTGTCCCGTGGAGGGAGGGGGGA TGTGTCCCCTGGAGGGAGGGGGGATGTGCCCCGAGGAGGGAGGGGGGATG TGTCCCGTGGGGGGAGGGGGGATGTGTCCCGTGGGGGGAGGGGGGATGTG TCCCCTGGAGGGAGGGGGGATGTGTCCCGTGGGGGGAGGGGGGATGTGTC CCGTGGGGGGAGGGGGGATGTGTCCCGAGGAGGGAGGGGGGATGTGTTCC CTGGAGGGAGGGGGGATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCGT GGGGGGAGGGGGGATGTGTCCCGAGGAGGGAGGGGGGATGTGTCCCCTGG AGGGAGGGGGTATGTGTCCCGTGGGGGGAGGAGGGATGTGTCCCGTGGGG GGAGGGGGTATGTGTCCCGTGGGGGGAGGGGG		GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding					3210		chr13	TogoVar
GP6_chr19_55008705_55043264	55033052	T T	TAGACGCG others(809): Show TAGACGCGGCGGGCTCGTTCGTGTTAGACGCGGCGGGCTCGTTCGTGTTA GACGCGGCGGGTTCGTTCGTGTTAGACGCGGCGGGCTCGTTCGTGTTAGA CGCGGTGGGCTCGTTCGTGTTAGACGCGGCGGGTTCGTTCGTGTTAGACG CGGCGGGCTCGTTCGTGTTAGACGCGGCGGGCTCGTTCGTGTTAGACGCG GCGGGCTCGTTCGTGTTAGACGCGGCGGGCTCGTTCGTGTTAGACGCGGT GGGCTCGTTCGTGTTAGACGCGGCGGGTTCGTTCGTGTTAGACGCGGCGG GCTCGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTAGACGCGGTGGGC TCGTTCGTGTTAGACGCGGTGGGTTCGTTCGTGTTAGACGCGGTGGGCTC GTTCGTGTTAGACGCGGTGGGCTCGTTGGTGTTAGACGCGGTGGGTTCGT TCGTGTTAGACGCGGAGGGTTCGTTCGTGTTAGACGCGGTGGGCTCGTTC GTGTTAGACGCGGTGGGTTCGTTCGTGTTAGACGCGGAGGGTTCGTTCGT GTTAGACGCGGTGGACTCGTTCGTGTTAGACGCGGTGGATTCGTTCGTGT TAGACGCGGTGGGCTCGTTCGTGTTAGACGCGGTGGGCTCGTTCGTGTTA GACGCGGAGGGTTCGTTCGTGTTAGACGCGGTGGACTCGTTCGTGTTAGA CGCGGTGGGTTCGTTCGTGTTAGACGCGGTGGGTTCGTTCGTGTTAGACG CGGTGGACTCGTTCGTGTTGTGTTAGACGCGGTGGACTCGTTCGTGTTAG ACACGGTGGACTCGTTC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	441	0.0023	816	c.35- others(829): Show c.35-515_35-514insGAACGAGTCCACCGTGTCTAACACGAACGAGT CCACCGCGTCTAACACAACACGAACGAGTCCACCGCGTCTAACACGAACG AACCCACCGCGTCTAACACGAACGAACCCACCGCGTCTAACACGAACGAG TCCACCGCGTCTAACACGAACGAACCCTCCGCGTCTAACACGAACGAGCC CACCGCGTCTAACACGAACGAGCCCACCGCGTCTAACACGAACGAATCCA CCGCGTCTAACACGAACGAGTCCACCGCGTCTAACACGAACGAACCCTCC GCGTCTAACACGAACGAACCCACCGCGTCTAACACGAACGAGCCCACCGC GTCTAACACGAACGAACCCTCCGCGTCTAACACGAACGAACCCACCGCGT CTAACACCAACGAGCCCACCGCGTCTAACACGAACGAGCCCACCGCGTCT AACACGAACGAACCCACCGCGTCTAACACGAACGAGCCCACCGCGTCTAA CACGAACGAGCCCACCGCGTCTAACACGAACGAGCCCGCCGCGTCTAACA CGAACGAACCCGCCGCGTCTAACACGAACGAGCCCACCGCGTCTAACACG AACGAGCCCGCCGCGTCTAACACGAACGAGCCCGCCGCGTCTAACACGAA CGAGCCCGCCGCGTCTAACACGAACGAGCCCGCCGCGTCTAACACGAACG AACCCGCCGCGTCTAACACGAACGAGCCCACCGCGTCTAACACGAACGAG CCCGCCGCGTCTAACACGAACGAACCCGCCGCGTCTAACACGAACGAGCC CGCCGCGTCTAACACGAACGAGCCCGCCGCGTCT		GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	1/7						chr19	TogoVar
IFFO2_chr1_18899280_18961676	18925812	A A	ATGGATGG others(809): Show ATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGAT GGATGGATGGATGGATGGATGGATTGGTTGGTTGGATGGATGGATGGATG GATGGATGGATGGATGGATGGATTGGTTGGATGGATGGTTGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGAT GGATTGGTTGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATG GTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGA TGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGAT GGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGG ATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGA TGGTTGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGAT GGATGGATGGATGGATGGATGGATTGGTTGGTTGGTTGGATGGATGGATG GATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0210 a0001c0001t0004g0210	1	376	0.0027	816	c.666 others(833): Show c.666-4692_666-4691insACCATCCATCCATCCATCCATCCATCCA TCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCAT CCAACCAACCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCAACCAATCCATCCATCCATCCATCCAACCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCA TCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCAACC ATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCAT CCATCCATCCAACCATCCATCCATCCATCCAACCAATCCATCCATCCATC CATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCA ACCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCAACCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATC CATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC AACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCA ACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACC AATCCATCCATCCATCCATCCATCCATCCATCCATCCA		IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8						chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925816	A A	ATGGATGG others(809): Show ATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGAT GGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGATGGATGGATG GATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGTTGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGAT GGATGGATTGGTTGGATGGATGGATGGATGGTTGGATGGATGGATGGATG GATGGTTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGT TGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGAT GGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGA TGGATGGATGGTTGGATGGATGGATGGATGGATTGGTTGGATGGATGGAT GGATGGATGGATGGATGGATGGATTGGTTGGTTGGTTGGATGGATGGATG GATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGT	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	376	0.0027	816	c.666 others(833): Show c.666-4696_666-4695insACCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCAT CCAACCAACCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATC CAACCAATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCC ATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATC CATCCAACCAATCCATCCATCCATCCATCCATCCATCCAACCATCCATCC ATCCATCCATCCATCCATCCATCCATCCAACCAACCATCCATCCATCCAT CCATCCAACCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATC CATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCA TCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCAACCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATC CATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC AACCAATCCATCCATCCATCCATCCATCCATCCATCCA		IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8						chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925816	A A	ATGGATGG others(809): Show ATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATG GATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGAT GGATGGATGGATGGATGGATGGATTGGTTGGTTGGATGGATGGATGGATG GATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGTTGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGAT GGATGGATGGATTGGTTGGATGGATGGATGGATGGTTGGATGGATGGATG GATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGA TGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGAT GGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGG ATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGA TGGTTGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGAT GGATGGATGGATGGATGGATGGATTGGTTGGTTGGTTGGATGGATGGATG GATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGT	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0064 a0001c0001t0012g0064	1	376	0.0027	816	c.666 others(833): Show c.666-4696_666-4695insACCATCCATCCATCCATCCATCCATCCA TCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCAT CCAACCAACCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCAACCAATCCATCCATCCATCCATCCAACCATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCA TCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCAACCATCC ATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCAT CCAACCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATC CAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCA TCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCAACCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATC CATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC AACCAATCCATCCATCCATCCATCCATCCATCCATCCA		IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8						chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925816	A A	ATGGATGG others(809): Show ATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATG GATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGA TGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGAT GGATGGATGGATGGATGGATGGATTGGTTGGTTGGATGGATGGATGGATG GATGGATGGATGGATGGATGGATTGGTTGGATGGATGGTTGGATGGATGG ATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGAT TGGTTGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGTTG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGA TGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGAT GGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGG ATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGA TGGTTGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGAT GGATGGATGGATGGATGGATGGATTGGTTGGTTGGTTGGATGGATGGATG GATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0055 a0001c0001t0006g0055	1	376	0.0027	816	c.666 others(833): Show c.666-4696_666-4695insACCATCCATCCATCCATCCATCCATCCA TCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCAT CCAACCAACCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCAACCAATCCATCCATCCATCCATCCAACCATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCA TCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCAACC ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCATCCAT CCATCCATCCATCCAACCATCCATCCATCCATCCAACCAATCCATCCATC CATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCA ACCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCAACCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC AACCAATCCATCCATCCATCCATCCATCCATCCATCCA		IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8						chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925816	A A	ATGGATGG others(809): Show ATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATG GATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGA TGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGAT GGATGGATGGATGGATGGATTGGTTGGTTGGATGGATGGATGGATGGATG GATGGATGGATGGATGGATTGGTTGGATGGATGGTTGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGAT GGATTGGTTGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATG GTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGA TGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGAT GGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGG ATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGA TGGTTGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGAT GGATGGATGGATGGATGGATGGATTGGTTGGTTGGTTGGATGGATGGATG GATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0355 a0001c0001t0030g0355	1	376	0.0027	816	c.666 others(833): Show c.666-4696_666-4695insACCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCAT CCAACCAACCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCAACCAATCCATCCATCCATCCATCCAACCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCA TCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCAACC ATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCAT CCATCCATCCAACCATCCATCCATCCATCCAACCAATCCATCCATCCATC CATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCCAACCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCAACCAACCAATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC AACCAATCCATCCATCCATCCATCCATCCATCCATCCA		IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8						chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925816	A A	ATGGATGG others(809): Show ATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATG GATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGA TGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGAT GGATGGATGGATTGGTTGGTTGGATGGATGGATGGATGGATGGATGGATG GATGGATGGATGGATTGGTTGGATGGATGGTTGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGAT TGGTTGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGTTG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGA TGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGAT GGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGG ATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGT TGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGAT GGATGGATGGATGGATGGATTGGTTGGTTGGTTGGATGGATGGATGGATG GATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGT	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0069 a0001c0001t0004g0069	1	376	0.0027	816	c.666 others(833): Show c.666-4696_666-4695insACCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCAT CCATCCAACCAACCAACCAATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCAACCAATCCATCCATCCATCCATCCAACCATCCATCC ATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCA TCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCAACC ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCATCCAT CCATCCATCCATCCAACCATCCATCCATCCATCCAACCAATCCATCCATC CATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCA TCCATCCAACCATCCATCCAACCAATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCAACCAACCAATCCATCCATCCATCCATCCATC CATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC AACCAATCCATCCATCCATCCATCCATCCATCCATCCA		IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8						chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925820	A A	ATGGATGG others(809): Show ATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATG GATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGA TGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGAT GGATGGATTGGTTGGTTGGATGGATGGATGGATGGATGGATGGATGGATG GATGGATGGATTGGTTGGATGGATGGTTGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATTGGT TGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGTTGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGA TGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGAT GGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGG ATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGT TGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGAT GGATGGATGGATGGATGGATTGGTTGGTTGGTTGGATGGATGGATGGATG GATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGT	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0047 a0001c0001t0004g0047	1	376	0.0027	816	c.666 others(833): Show c.666-4700_666-4699insACCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCAT CCATCCAACCAACCAACCAATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCAACCAATCCATCCATCCATCCATCCAACCATCCATCC ATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCA TCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCC AACCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAT CCATCCATCCATCCATCCAACCATCCATCCATCCATCCAACCAATCCATC CATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCAACCATCCATCCAACCAATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCAACCAACCAATCCATCCATCCATCCATC CATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCAACCAATCCATCCATCCATCCATCCATCCATCCA		IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8						chr1	TogoVar
IFT140_chr16_1505427_1617072	1599475	G G	GGGTCAGC others(809): Show GGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGC CTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCCGGCCA GCCACCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCCGGCCA GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAG CCGCCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCGCCCGGCCAGC CGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGTCCGGCCAGCC GCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGA AGTGAGGAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGTGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTCGGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGGGCCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCGGCCCCCCGCCG GGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCACCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCGGCCCCCCGCCC GGGAGGGAGGTGGGGGT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0280 a0001c0001t0002g0280	1	334	0.0030	816	c.369 others(833): Show c.369+2894_369+2895insACCCCCACCTCCCTCCCGGGCGGGGGGC CGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGG CCGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCCGGCGGGGGGC CGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCTGGCCGGGCAGGGGGGCTGGCCCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGA CGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGCGGCTGGCCAGGCG GGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGG GGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTG AGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC		IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	4/30						chr16	TogoVar
INPP5A_chr10_132532787_132788480	132622895	C C	CGTTCGTG others(809): Show CGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAA ATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAA CTTGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACG TGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTA CGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGA CTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGA TTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCG TTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAAT ATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACT TGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTG TTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACG CTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGACT CAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATT GGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTT CGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATAT ACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTG AGAAATATACCGTCCGT	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA19010.hp2 NA18962.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0169 a0001c0001t0001g0170	2	204	0.0098	816	c.117 others(835): Show c.117+14996_117+14997insCGTTCGTGGATTGGAAGACTCAGTTA CGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGA CTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGA TTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCG TTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAAT ATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACT TGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTG TTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACG CTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGACT CAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATT GGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTT CGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATAT ACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTG AGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTT AGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCT GACGTGTTAGAACTTGAGAAATATACCGTCCGTGTTCGTGGATTGGAAGA CTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCG		INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132622895	C C	CGTTCGTG others(809): Show CGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAA ATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAA CTTGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACG TGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTA CGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGA CTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGA TTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCG TTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAAT ATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACT TGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTG TTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACG CTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGACT CAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATT GGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTT CGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATAT ACCGTGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTG AGAAATATACCGTCCGT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0095 a0001c0003t0002g0095	1	204	0.0049	816	c.117 others(835): Show c.117+14996_117+14997insCGTTCGTGGATTGGAAGACTCAGTTA CGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGA CTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGA TTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCG TTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAAT ATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACT TGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTG TTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACG CTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGACT CAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATT GGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTT CGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATAT ACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTG AGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTT AGAACTTGAGAAATATACCGTGTTCGTGGATTGGAAGACTCAGTTACGCT GACGTGTTAGAACTTGAGAAATATACCGTCCGTGTTCGTGGATTGGAAGA CTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCG		INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr10	TogoVar
KHSRP_chr19_6408102_6429811	6429376	G G	GGAAGGGA others(809): Show GGAAGGGAGGTGGAGGGAGAAAAGAGAGGAGGAGGAGGAAGGAAAGAAGG AGAAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGG AGAAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGA GAAAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGA GGGACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGT GAAGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAG GAGGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAG GAGGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAG GGGAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAG GAGAGAAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGA AGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGA GGAGAGAGGAGGAGGGGAGGAGGAGAGAAGAGGAGGGGAGGAGGAGGAGA GGAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGGAAGGAAGAGA GGAGGAGGAGGAGAGGAAGGAGGAGGGGAGGAGGAGGCAGAAAGGAGGAA GGAGGGGGAGGAGGAGAGGAAAGAGTCCGGGAGGAGGAGGGAGAAAGGAG GAGGGGAGGAGGAGGGAGAAAGGAAGAGGGGAGGAGGAGGGAGAAAGGAA GAGGGGAGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG03516.hp1 NA18906.hp2 HG02257.hp1 HG03516.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0073 a0001c0001t0034 a0001c0001t0073	a0001c0001t0034g0034 a0001c0001t0073g0101 a0001c0001t0034g0034 a0001c0001t0073g0101	3	386	0.0078	816	c.-46 others(827): Show c.-4676_-4675insTCCCTCCTCCTCCCCTCTTCCTTTCTCCCTCCTC CTCCCCTCTTCCTTTCTCCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCTC CTCCCGGACTCTTTCCTCTCCTCCTCCCCCTCCTTCCTCCTTTCTGCCTC CTCCTCCCCTCCTCCTTCCTCTCCTCCTCCTCCTCTCTTCCTTCCTCTCC TCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTCCTCTCCTCCTCCTCCCCT CCTCTTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCCTCCTCT CTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTC CTTCCTCTCCTCCTCCTCCCCTCCTCTTCTCTCCTCCTCCCCTCCTCCTC TCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCC CCTCTTCTCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCCTCCTTTCT CCCTCCTCCTCCCTTCCTTTCTCCCTCCTCCTCCTTCCCTCCTCCTTTCT CTTCTTTTCTCCCACTTCTCCCTCCTCCCCTTCACTTCCTCCTCCTCCCC TTTCTCCCTCCTCCTCTTCTCCTCTTTTGTCCCTCCTCTCCCTCCTCCCT TTCACCTTTTCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCCCCTCCCCTC ATCTTTTCTCCCTCCTCCTCCTCTCCTCTTTCTCCTCCTCTATTCTCCCT CCTCTCCCTTCTCCCCCTTCACTTCTTCCTTCTCCTTCTTTCCTTCCTCC TCCTCCTCTCTTTTCTCCCTCCACCTCCCTTC		KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding					4566		chr19	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(809): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTC CCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTC CTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCT CCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCC TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCCTCTCCCTCTCCCTCCTCTCCCTCCTCTCCCTCACTCTCCCTCTC CCTCACTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0012 a0012	a0012c0015 a0012c0015	a0012c0015t0006 a0012c0015t0006	a0012c0015t0006g0065 a0012c0015t0006g0065	1	370	0.0027	816	c.-27 others(827): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGA GGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG		KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding					2705		chr12	TogoVar
LAMA2_chr6_128878138_129521566	129385145	G G	GGAAAAAG others(809): Show GGAAAAAGGAAGGAAGGAAGGAGGGTAAGGGAGGGAGGGGGAAGGAAGGG AGGAAAGGAGGAAGAGAAGGATGAAGGGAGGAAGGAAGGAAGGGGAAGGA AGGAGGAAGGGAGGGAGGGAAGGAGGGAAGAAGGGAGGAAGGGAAGGAGG GAAGGTGGAAGGAAGGAAGGAAAAGAAGGAAGGAAGGAGGGAGGGAAGCA GGAAGGAAGGAGGGAGAGGAAGGAACAGAAAGGAAAAAAAGGAGGGGAGG GAGGAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAGGGAGGGAGGGAG GGAGGAAGGAGGAAAAGGAGGGAGGGAGGAAGGAAGGAACAAAGGAAGGA AGAAAGAAAGGAAGGAAGGAGGGAGGGAGGAAGGAAGGAACGAAGGAAGG AAGAAAGAAAGGAAGGAGGGAGGGAGGGAGGAAGGAGGAAAAGGAGGGAG GGAGGAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAAGGAGGGA GGGAGGAAGGAAGGAACGAAGGAAGAAAGAAAGGAGGGAGGGAGGGAGGA AGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAGGGAGGGAGGGAGG AAGGAGGAAAAGGAGGGAGGGAGGAAGGAAGGAACAAAGGAAGGAAGAAA GAAAGGAAGGAGGGAGGGAGGGAGGAAGGAGGAAAAGGAGGGAGGGAGGA AGGAAGGAGGGAGGGAGGGAGGAAGGAGGAAAAGGAGGGAGGGAGGGAGG GAGGAAGGAAGGAAGAAAGGGCAGAAGGAAGGAAGGGGGAAGGGAGGGAA GAAAGGAAGGGAAAGGA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0003 a0003	a0003c0063 a0003c0063	a0003c0063t0001 a0003c0063t0001	a0003c0063t0001g0075 a0003c0063t0001g0075	1	88	0.0114	816	c.507 others(835): Show c.5071+1913_5071+1914insAAAAAGGAAGGAAGGAAGGAGGGTAA GGGAGGGAGGGGGAAGGAAGGGAGGAAAGGAGGAAGAGAAGGATGAAGGG AGGAAGGAAGGAAGGGGAAGGAAGGAGGAAGGGAGGGAGGGAAGGAGGGA AGAAGGGAGGAAGGGAAGGAGGGAAGGTGGAAGGAAGGAAGGAAAAGAAG GAAGGAAGGAGGGAGGGAAGCAGGAAGGAAGGAGGGAGAGGAAGGAACAG AAAGGAAAAAAAGGAGGGGAGGGAGGAAGGAAGGAACAAAGGAAGGAAGA AAGAAAGGAGGGAGGGAGGGAGGGAGGAAGGAGGAAAAGGAGGGAGGGAG GAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAAGGAGGGAGGGA GGAAGGAAGGAACGAAGGAAGGAAGAAAGAAAGGAAGGAGGGAGGGAGGG AGGAAGGAGGAAAAGGAGGGAGGGAGGAAGGAAGGAACAAAGGAAGGAAG AAAGAAAGGAAGGAAGGAGGGAGGGAGGAAGGAAGGAACGAAGGAAGAAA GAAAGGAGGGAGGGAGGGAGGAAGGAAGGAACAAAGGAAGGAAGAAAGAA AGGAAGGAGGGAGGGAGGGAGGAAGGAGGAAAAGGAGGGAGGGAGGAAGG AAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAGGGAGGGAGGGAGGAAG GAGGAAAAGGAGGGAGGGAGGAAGGAAGGAGGGAGGGAGGGAGGAAGGAG GAAAAGGAGGGAGGGAGGGAGGGAGGAAGGAAGGAAGAAAGGGCAGAAGG AAGGAAGGGGGAAGGGAGGGAAGAAAGGAAGGGAAAGGAG		LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	35/64					INFO_REALIGN_3_PRIME	chr6	TogoVar
LHPP_chr10_124456823_124619141	124471657	A A	ATATATTT others(809): Show ATATATTTATATATATTTATATATATTTATATATATATTTATATATATAT TTATATATATATTATTTATATATATATTTATATATATTTATATATATTTA TATATATTTATATATATTTATATATATATTTATATATATATTTATATATA TTTATATATATTTATATATATATTTATATATATTTATATATATTTATATA TATATATTTATATATATTTATATATATATTTATATATATTTATATATATA TTTATATATATATATTTTATATATATTTTATATATATTTTTAATATATAG TTATATATAGTTATATATATTTATATATAGTTATATATATTTATGTATAG TTATATTTATAGTTATGTATAGTTATATATATAGTTATATATAGTTATAT ATATAGTTATATATATATATTTTTATATATATAGTTATATATATATATTT TTATATATATAGTTATATATATATTTTTATATATATAGTTATATATATAT ATTTTTATATATATAGTTATATATATATATTTTTATATATATAGTTATAT ATATATATTTTTATATATAGTTATATATTTATATATATTTATATATATTT ATATATATATTTATATATTTATTTATATATATTTATATATGTATTTATAT ATATTTATATGTATTTATATATATTTATATATATTTATATATATATATAT AAATATATTTATATATATAAATATAAATATTTATATATATTTATATATAT TTATATATATATTTATGTATATTTATATATATTTATATATATATTTATGT ATATTTATATATGTATT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	260	0.0039	816	c.125 others(833): Show c.125+9673_125+9674insATTTATATATATTTATATATATTTATAT ATATATTTATATATATATTTATATATATATTATTTATATATATATTTATA TATATTTATATATATTTATATATATTTATATATATTTATATATATATTTA TATATATATTTATATATATTTATATATATTTATATATATATTTATATATA TTTATATATATTTATATATATATATTTATATATATTTATATATATATTTA TATATATTTATATATATATTTATATATATATATTTTATATATATTTTATA TATATTTTTAATATATAGTTATATATAGTTATATATATTTATATATAGTT ATATATATTTATGTATAGTTATATTTATAGTTATGTATAGTTATATATAT AGTTATATATAGTTATATATATAGTTATATATATATATTTTTATATATAT AGTTATATATATATATTTTTATATATATAGTTATATATATATTTTTATAT ATATAGTTATATATATATATTTTTATATATATAGTTATATATATATATTT TTATATATATAGTTATATATATATATTTTTATATATAGTTATATATTTAT ATATATTTATATATATTTATATATATATTTATATATTTATTTATATATAT TTATATATGTATTTATATATATTTATATGTATTTATATATATTTATATAT ATTTATATATATATATATAAATATATTTATATATATAAATATAAATATTT ATATATATTTATATATATTTATATATATATTTATGTATATTTATATATAT TTATATATATATTTATGTATATTTATATATGTATTTAT		LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr10	TogoVar
MERTK_chr2_111893607_112034561	111944498	A A	AATTCCTT others(809): Show AATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAAT TCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGA ATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATA ATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAG GAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAA TAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTA AGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAA AATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTT TAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTT AAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGT TTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCC TTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCT GTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATT CCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCT CTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTA TTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTC CTCTGTTTTAAGGAATT	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA18984.hp1 HG02258.hp1 NA18984.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0004 a0003c0003t0001 a0001c0001t0004 a0003c0003t0001	a0001c0001t0004g0083 a0003c0003t0001g0044 a0001c0001t0004g0083 a0003c0003t0001g0044	2	288	0.0069	816	c.483 others(831): Show c.483-427_483-426insTTCCTTAAAATAATTCCTCTGTTTTAAGGA ATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATA ATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAG GAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAA TAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTA AGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAA AATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTT TAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTT AAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGT TTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCC TTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCT GTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATT CCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCT CTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTA TTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTC CTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAAT TATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTA		MERTK	ENSG00000153208.19	transcript	ENST00000295408.9	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr2	TogoVar
MUC4_chr3_195741771_195816929	195781047	G G	GGAAGGGC others(809): Show GGAAGGGCTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGG AAAGGCTGGTGACAGGAAGAGGGGTGGCGTGACCAGTGGATGCTGAGGAA GTGTCGGTGACAGGAAGCGGGGTGGCATGACCGGTGGATGCTGAGGAAGG GCTGGTGACATGAAGAGGGTTGGCGTGACCTGTGGATGCTGAGGAAGTGT CGGTGACAGGAAGCGGGGTGGCGTGACCGGTGGATATTGAGGAAGTGTCG GTGACAGGAAGAGAGGTGGCGTGACCTATGGATGCTGAGGAAGTGTCGGT GACAGGAAGAAGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGT CAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACA GGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAAGGCTGGTGACAGG AAGAGGGGTGGCCTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAA GAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCTGGTGAGAGGAAGA GGGGTAGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGG GGTGGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGAGG TGGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGGGGTG GTGTGACCTGAGGATGCTGAGGAAGGGATGGTGACAGGAAGAGAGGTGGC ATGACCTGTGAACACTGAGGAAGCGTCGGTGACAGGAAGAGAGGTGGCGT GACCTGTGGACACTGAC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01884.hp2 HG01884.hp2	a0082 a0082	a0082c0191 a0082c0191	a0082c0191t0005 a0082c0191t0005	a0082c0191t0005g0244 a0082c0191t0005g0244	1	249	0.0040	816	c.105 others(827): Show c.10532_10533insGTCAGTGTCCACAGGTCACGCCACCTCTCTTCCT GTCACCGACGCTTCCTCAGTGTTCACAGGTCATGCCACCTCTCTTCCTGT CACCATCCCTTCCTCAGCATCCTCAGGTCACACCACCCCTCTTCCTGTCA CCGACGCTTCCTCAGTGTCCACAGGTCACGCCACCTCTCTTCCTGTCACC GACGCTTCCTCAGTGTCCACAGGTCACGCCACCCCTCTTCCTGTCACCGA CGCTTCCTCAGTGTCCACAGGTCACGCTACCCCTCTTCCTCTCACCAGCC TTTCCTCAGTATCCACAGGTGACACCACGCCTCTTCCTGTCACCGACACT TCCTCAGCATCCACAGGTCAGGCCACCCCTCTTCCTGTCACCAGCCTTTC CTCAGTATCCACAGGTGACACCACCCCTCTTCCTGTCACCGACACTTCCT CAGCATCCACAGGTCACGCCACCCCTCTTCCTGACACCGACACTTCCTCA GCATCCACAGGTCACGCCACCCTTCTTCCTGTCACCGACACTTCCTCAGC ATCCATAGGTCACGCCACCTCTCTTCCTGTCACCGACACTTCCTCAATAT CCACCGGTCACGCCACCCCGCTTCCTGTCACCGACACTTCCTCAGCATCC ACAGGTCACGCCAACCCTCTTCATGTCACCAGCCCTTCCTCAGCATCCAC CGGTCATGCCACCCCGCTTCCTGTCACCGACACTTCCTCAGCATCCACTG GTCACGCCACCCCTCTTCCTGTCACCAGCCTTTCCTCAGTATCCACAGGT GACACCACGCCTCTTCCTGTCACTAGCCCTTC	p.Ser others(831): Show p.Ser3511_Ser3512insSerValSerThrGlyHisAlaThrSerLeu ProValThrAspAlaSerSerValPheThrGlyHisAlaThrSerLeuPr oValThrIleProSerSerAlaSerSerGlyHisThrThrProLeuProV alThrAspAlaSerSerValSerThrGlyHisAlaThrSerLeuProVal ThrAspAlaSerSerValSerThrGlyHisAlaThrProLeuProValTh rAspAlaSerSerValSerThrGlyHisAlaThrProLeuProLeuThrS erLeuSerSerValSerThrGlyAspThrThrProLeuProValThrAsp ThrSerSerAlaSerThrGlyGlnAlaThrProLeuProValThrSerLe uSerSerValSerThrGlyAspThrThrProLeuProValThrAspThrS erSerAlaSerThrGlyHisAlaThrProLeuProAspThrAspThrSer SerAlaSerThrGlyHisAlaThrLeuLeuProValThrAspThrSerSe rAlaSerIleGlyHisAlaThrSerLeuProValThrAspThrSerSerI leSerThrGlyHisAlaThrProLeuProValThrAspThrSerSerAla SerThrGlyHisAlaAsnProLeuHisValThrSerProSerSerAlaSe rThrGlyHisAlaThrProLeuProValThrAspThrSerSerAlaSerT hrGlyHisAlaThrProLeuProValThrSerLeuSerSerValSerThr GlyAspThrThrProLeuProValThrSerProSer	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	10644/16756	10532/16239	3511/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195781047	G G	GGAAGGGC others(809): Show GGAAGGGCTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGG AAAGGCTGGTGACAGGAAGAGGGGTGGCGTGACCAGTGGATGCTGAGGAA GTGTCGGTGACAGGAAGCGGGGTGGCATGACCGGTGGATGCTGAGGAAGG GCTGGTGACATGAAGAGGGTTGGCGTGACCTGTGGATGCTGAGGAAGTGT CGGTGACAGGAAGCGGGGTGGCGTGACCGGTGGATATTGAGGAAGTGTCG GTGACAGGAAGAGAGGTGGCGTGACCTATGGATGCTGAGGAAGTGTCGGT GACAGGAAGAAGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGT CAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACA GGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAAGGCTGGTGACAGG AAGAGGGGTGGCCTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAA GAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCTGGTGAGAGGAAGA GGGGTAGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGG GGTGGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGAGG TGGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGGGGTG GTGTGACCTGAGGATGCTGAGGAAGGGATGGTGACAGGAAGAGAGGTGGC ATGACCTGTGAACACTGAGGAAGCGTCGGTGACAGGAAGAGAGGTGGCGT GACCTGTGGACACTGAT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03540.hp2 HG03540.hp2	a0083 a0083	a0083c0190 a0083c0190	a0083c0190t0004 a0083c0190t0004	a0083c0190t0004g0241 a0083c0190t0004g0241	1	249	0.0040	816	c.105 others(827): Show c.10532_10533insATCAGTGTCCACAGGTCACGCCACCTCTCTTCCT GTCACCGACGCTTCCTCAGTGTTCACAGGTCATGCCACCTCTCTTCCTGT CACCATCCCTTCCTCAGCATCCTCAGGTCACACCACCCCTCTTCCTGTCA CCGACGCTTCCTCAGTGTCCACAGGTCACGCCACCTCTCTTCCTGTCACC GACGCTTCCTCAGTGTCCACAGGTCACGCCACCCCTCTTCCTGTCACCGA CGCTTCCTCAGTGTCCACAGGTCACGCTACCCCTCTTCCTCTCACCAGCC TTTCCTCAGTATCCACAGGTGACACCACGCCTCTTCCTGTCACCGACACT TCCTCAGCATCCACAGGTCAGGCCACCCCTCTTCCTGTCACCAGCCTTTC CTCAGTATCCACAGGTGACACCACCCCTCTTCCTGTCACCGACACTTCCT CAGCATCCACAGGTCACGCCACCCCTCTTCCTGACACCGACACTTCCTCA GCATCCACAGGTCACGCCACCCTTCTTCCTGTCACCGACACTTCCTCAGC ATCCATAGGTCACGCCACCTCTCTTCCTGTCACCGACACTTCCTCAATAT CCACCGGTCACGCCACCCCGCTTCCTGTCACCGACACTTCCTCAGCATCC ACAGGTCACGCCAACCCTCTTCATGTCACCAGCCCTTCCTCAGCATCCAC CGGTCATGCCACCCCGCTTCCTGTCACCGACACTTCCTCAGCATCCACTG GTCACGCCACCCCTCTTCCTGTCACCAGCCTTTCCTCAGTATCCACAGGT GACACCACGCCTCTTCCTGTCACTAGCCCTTC	p.Ser others(831): Show p.Ser3511_Ser3512insSerValSerThrGlyHisAlaThrSerLeu ProValThrAspAlaSerSerValPheThrGlyHisAlaThrSerLeuPr oValThrIleProSerSerAlaSerSerGlyHisThrThrProLeuProV alThrAspAlaSerSerValSerThrGlyHisAlaThrSerLeuProVal ThrAspAlaSerSerValSerThrGlyHisAlaThrProLeuProValTh rAspAlaSerSerValSerThrGlyHisAlaThrProLeuProLeuThrS erLeuSerSerValSerThrGlyAspThrThrProLeuProValThrAsp ThrSerSerAlaSerThrGlyGlnAlaThrProLeuProValThrSerLe uSerSerValSerThrGlyAspThrThrProLeuProValThrAspThrS erSerAlaSerThrGlyHisAlaThrProLeuProAspThrAspThrSer SerAlaSerThrGlyHisAlaThrLeuLeuProValThrAspThrSerSe rAlaSerIleGlyHisAlaThrSerLeuProValThrAspThrSerSerI leSerThrGlyHisAlaThrProLeuProValThrAspThrSerSerAla SerThrGlyHisAlaAsnProLeuHisValThrSerProSerSerAlaSe rThrGlyHisAlaThrProLeuProValThrAspThrSerSerAlaSerT hrGlyHisAlaThrProLeuProValThrSerLeuSerSerValSerThr GlyAspThrThrProLeuProValThrSerProSer	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	10644/16756	10532/16239	3511/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195784631	G G	GACCTGTG others(809): Show GACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGTGTCA CCTGTGGATGCTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCCTGTCC TGTGGATGCTGAGGAAGTGTCGGTGACAAGAAGAGGGATGGCGTGACCTG TGGATGCTGAGGAAGGGCTGGTGACAGGAAGAGGGGTGGCCTGACCTGTG GATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGA TGCTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCGTGACCCGTGGATG CTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCGTGACCTGTGGATACT GAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGA GGAAGGGCTGGTGACAGGAAGAGGGGTGGTGTCCCCTGTGGATAATGAGG AAGCATCGGTGACATGAAGAGCGGTGGCGTGACCTGTGGATACTGAGGAA GCGTCGGTGACAAGAAGAGAGGTGGCGTGACCTGTGGATACTGAGGAAGC GTCGGTGACAAGAAGAGGGGTGGCGTGACCTGTGGATGCCGAGGAAACGT TGGTGACAGGAAGACGGGTGGTGTCACCTGTGGAAGCTGAGGAAAGGCCG GTGACAGGAAGATGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGT GACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGCGTCGGTGA CAGGAAGAGGGGTGGTGTGACCTGAGGATGCTGAGGAAGGGCTGGTGACA GGAAGAGGGGTGGTGTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02257.hp1 HG02257.hp1	a0093 a0093	a0093c0179 a0093c0179	a0093c0179t0012 a0093c0179t0012	a0093c0179t0012g0236 a0093c0179t0012g0236	1	249	0.0040	816	c.694 others(825): Show c.6948_6949insGACACCACCCCTCTTCCTGTCACCAGCCCTTCCTCA GCATCCTCAGGTCACACCACCCCTCTTCCTGTCACCGACGCTTCCTCAGC ATCCACAGGTGACACCACCCCTCTTCCTGTCACCGACACTTCCTCAGCAT CCACAGGTCACGCCACCCATCTTCCTGTCACCGGCCTTTCCTCAGCTTCC ACAGGTGACACCACCCGTCTTCCTGTCACCAACGTTTCCTCGGCATCCAC AGGTCACGCCACCCCTCTTCTTGTCACCGACGCTTCCTCAGTATCCACAG GTCACGCCACCTCTCTTCTTGTCACCGACGCTTCCTCAGTATCCACAGGT CACGCCACCGCTCTTCATGTCACCGATGCTTCCTCATTATCCACAGGGGA CACCACCCCTCTTCCTGTCACCAGCCCTTCCTCAGCATCCACAGGTGACA CCACCCCTCTTCCTGTCACCGACACTTCCTCAGTATCCACAGGTCACGCC ACCTCTCTTCCTGTCACCGACACTTCCTCAGCATCCACGGGTCACGCCAC CTCTCTTCCTGTCACCGACACTTCCTCAGCATCCACAGGTCACGCCACCC CTCTTCCTGTCACCGACACTTCCTCAGCATCCACAGGTCAGGCCACCCCT CTTCCTGTCACCAGCCCTTCCTCAGCATCCACAGGTCACGCCATCCCTCT TCTTGTCACCGACACTTCCTCAGCATCCACAGGACAGGCCACCCCTCTTC CTGTCACCAGCCTTTCCTCAGCATCCACAGGTGACACCACCCCTCTTCCT GTCACCGACGCTTCCTCAGTGTCCACAGGT	p.Gly others(831): Show p.Gly2316_His2317insAspThrThrProLeuProValThrSerPro SerSerAlaSerSerGlyHisThrThrProLeuProValThrAspAlaSe rSerAlaSerThrGlyAspThrThrProLeuProValThrAspThrSerS erAlaSerThrGlyHisAlaThrHisLeuProValThrGlyLeuSerSer AlaSerThrGlyAspThrThrArgLeuProValThrAsnValSerSerAl aSerThrGlyHisAlaThrProLeuLeuValThrAspAlaSerSerValS erThrGlyHisAlaThrSerLeuLeuValThrAspAlaSerSerValSer ThrGlyHisAlaThrAlaLeuHisValThrAspAlaSerSerLeuSerTh rGlyAspThrThrProLeuProValThrSerProSerSerAlaSerThrG lyAspThrThrProLeuProValThrAspThrSerSerValSerThrGly HisAlaThrSerLeuProValThrAspThrSerSerAlaSerThrGlyHi sAlaThrSerLeuProValThrAspThrSerSerAlaSerThrGlyHisA laThrProLeuProValThrAspThrSerSerAlaSerThrGlyGlnAla ThrProLeuProValThrSerProSerSerAlaSerThrGlyHisAlaIl eProLeuLeuValThrAspThrSerSerAlaSerThrGlyGlnAlaThrP roLeuProValThrSerLeuSerSerAlaSerThrGlyAspThrThrPro LeuProValThrAspAlaSerSerValSerThrGly	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	7060/16756	6948/16239	2316/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195784631	G G	GACCTGTG others(809): Show GACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGTGTCA CCTGTGGATGCTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCCTGTCC TGTGGATGCTGAGGAAGTGTCGGTGACAAGAAGAGGGATGGCGTGACCTG TGGATGCTGAGGAAGGGCTGGTGACAGGAAGAGGGGTGGCCTGACCTGTG GATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGA TGCTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCGTGACCCGTGGATG CTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCGTGACCTGTGGATACT GAGGAAGTGTTGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGA GGAAGGGCTGGTGACAGGAAGAGGGGTGGTGTCCCCTGTGGATAATGAGG AAGCATCGGTGACATGAAGAGCGGTGGCGTGACCTGTGGATACTGAGGAA GCGTCGGTGACAAGAAGAGAGGTGGCGTGACCTGTGGATACTGAGGAAGC GTCGGTGACAAGAAGAGGGGTGGCGTGACCTGTGGATGCCGAGGAAACGT TGGTGACAGGAAGACGGGTGGTGTCACCTGTGGAAGCTGAGGAAAGGCCG GTGACAGGAAGATGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGT GACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGCGTCGGTGA CAGGAAGAGGGGTGGTGTGACCTGAGGATGCTGAGGAAGGGCTGGTGACA GGAAGAGGGGTGGTGTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02895.hp1 HG02895.hp1	a0094 a0094	a0094c0178 a0094c0178	a0094c0178t0004 a0094c0178t0004	a0094c0178t0004g0235 a0094c0178t0004g0235	1	249	0.0040	816	c.694 others(825): Show c.6948_6949insGACACCACCCCTCTTCCTGTCACCAGCCCTTCCTCA GCATCCTCAGGTCACACCACCCCTCTTCCTGTCACCGACGCTTCCTCAGC ATCCACAGGTGACACCACCCCTCTTCCTGTCACCGACACTTCCTCAGCAT CCACAGGTCACGCCACCCATCTTCCTGTCACCGGCCTTTCCTCAGCTTCC ACAGGTGACACCACCCGTCTTCCTGTCACCAACGTTTCCTCGGCATCCAC AGGTCACGCCACCCCTCTTCTTGTCACCGACGCTTCCTCAGTATCCACAG GTCACGCCACCTCTCTTCTTGTCACCGACGCTTCCTCAGTATCCACAGGT CACGCCACCGCTCTTCATGTCACCGATGCTTCCTCATTATCCACAGGGGA CACCACCCCTCTTCCTGTCACCAGCCCTTCCTCAGCATCCACAGGTGACA CCACCCCTCTTCCTGTCACCAACACTTCCTCAGTATCCACAGGTCACGCC ACCTCTCTTCCTGTCACCGACACTTCCTCAGCATCCACGGGTCACGCCAC CTCTCTTCCTGTCACCGACACTTCCTCAGCATCCACAGGTCACGCCACCC CTCTTCCTGTCACCGACACTTCCTCAGCATCCACAGGTCAGGCCACCCCT CTTCCTGTCACCAGCCCTTCCTCAGCATCCACAGGTCACGCCATCCCTCT TCTTGTCACCGACACTTCCTCAGCATCCACAGGACAGGCCACCCCTCTTC CTGTCACCAGCCTTTCCTCAGCATCCACAGGTGACACCACCCCTCTTCCT GTCACCGACGCTTCCTCAGTGTCCACAGGT	p.Gly others(831): Show p.Gly2316_His2317insAspThrThrProLeuProValThrSerPro SerSerAlaSerSerGlyHisThrThrProLeuProValThrAspAlaSe rSerAlaSerThrGlyAspThrThrProLeuProValThrAspThrSerS erAlaSerThrGlyHisAlaThrHisLeuProValThrGlyLeuSerSer AlaSerThrGlyAspThrThrArgLeuProValThrAsnValSerSerAl aSerThrGlyHisAlaThrProLeuLeuValThrAspAlaSerSerValS erThrGlyHisAlaThrSerLeuLeuValThrAspAlaSerSerValSer ThrGlyHisAlaThrAlaLeuHisValThrAspAlaSerSerLeuSerTh rGlyAspThrThrProLeuProValThrSerProSerSerAlaSerThrG lyAspThrThrProLeuProValThrAsnThrSerSerValSerThrGly HisAlaThrSerLeuProValThrAspThrSerSerAlaSerThrGlyHi sAlaThrSerLeuProValThrAspThrSerSerAlaSerThrGlyHisA laThrProLeuProValThrAspThrSerSerAlaSerThrGlyGlnAla ThrProLeuProValThrSerProSerSerAlaSerThrGlyHisAlaIl eProLeuLeuValThrAspThrSerSerAlaSerThrGlyGlnAlaThrP roLeuProValThrSerLeuSerSerAlaSerThrGlyAspThrThrPro LeuProValThrAspAlaSerSerValSerThrGly	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	7060/16756	6948/16239	2316/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195784631	G G	GACCTGTG others(809): Show GACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGTGTCA CCTGTGGATGCTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCCTGTCC TGTGGATGCTGAGGAAGTGTCGGTGACAAGAAGAGGGATGGCGTGACCTG TGGATGCTGAGGAAGGGCTGGTGACAGGAAGAGGGGTGGCCTGACCTGTG GATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGA TGCTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCGTGACCTGTGGATG CTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCGTGACCTGTGGATACT GAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGA GGAAGGGCTGGTGACAGGAAGAGGGGTGGTGTCCCCTGTGGATAATGAGG AAGCATCGGTGACATGAAGAGCGGTGGCGTGACCTGTGGATACTGAGGAA GCGTCGGTGACAAGAAGAGAGGTGGCGTGACCTGTGGATACTGAGGAAGC GTCGGTGACAAGAAGAGGGGTGGCGTGACCTGTGGATGCCGAGGAAACGT TGGTGACAGGAAGACGGGTGGTGTCACCTGTGGAAGCTGAGGAAAGGCCG GTGACAGGAAGATGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGT GACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGCGTCGGTGA CAGGAAGAGGGGTGGTGTGACCTGAGGATGCTGAGGAAGGGCTGGTGACA GGAAGAGGGGTGGTGTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01433.hp2 HG01884.hp2 HG02723.hp1 others(1): Show HG01433.hp2 HG01884.hp2 HG02723.hp1 HG03540.hp2	a0078 a0082 a0083 others(1): Show a0078 a0082 a0083 a0087	a0078c0193 a0082c0191 a0083c0190 others(1): Show a0078c0193 a0082c0191 a0083c0190 a0087c0184	a0078c0193t0003 a0082c0191t0005 a0083c0190t0004 others(1): Show a0078c0193t0003 a0082c0191t0005 a0083c0190t0004 a0087c0184t0003	a0078c0193t0003g0213 a0082c0191t0005g0244 a0083c0190t0004g0241 others(1): Show a0078c0193t0003g0213 a0082c0191t0005g0244 a0083c0190t0004g0241 a0087c0184t0003g0215	4	249	0.0161	816	c.694 others(825): Show c.6948_6949insGACACCACCCCTCTTCCTGTCACCAGCCCTTCCTCA GCATCCTCAGGTCACACCACCCCTCTTCCTGTCACCGACGCTTCCTCAGC ATCCACAGGTGACACCACCCCTCTTCCTGTCACCGACACTTCCTCAGCAT CCACAGGTCACGCCACCCATCTTCCTGTCACCGGCCTTTCCTCAGCTTCC ACAGGTGACACCACCCGTCTTCCTGTCACCAACGTTTCCTCGGCATCCAC AGGTCACGCCACCCCTCTTCTTGTCACCGACGCTTCCTCAGTATCCACAG GTCACGCCACCTCTCTTCTTGTCACCGACGCTTCCTCAGTATCCACAGGT CACGCCACCGCTCTTCATGTCACCGATGCTTCCTCATTATCCACAGGGGA CACCACCCCTCTTCCTGTCACCAGCCCTTCCTCAGCATCCACAGGTGACA CCACCCCTCTTCCTGTCACCGACACTTCCTCAGTATCCACAGGTCACGCC ACCTCTCTTCCTGTCACCGACACTTCCTCAGCATCCACAGGTCACGCCAC CTCTCTTCCTGTCACCGACACTTCCTCAGCATCCACAGGTCACGCCACCC CTCTTCCTGTCACCGACACTTCCTCAGCATCCACAGGTCAGGCCACCCCT CTTCCTGTCACCAGCCCTTCCTCAGCATCCACAGGTCACGCCATCCCTCT TCTTGTCACCGACACTTCCTCAGCATCCACAGGACAGGCCACCCCTCTTC CTGTCACCAGCCTTTCCTCAGCATCCACAGGTGACACCACCCCTCTTCCT GTCACCGACGCTTCCTCAGTGTCCACAGGT	p.Gly others(831): Show p.Gly2316_His2317insAspThrThrProLeuProValThrSerPro SerSerAlaSerSerGlyHisThrThrProLeuProValThrAspAlaSe rSerAlaSerThrGlyAspThrThrProLeuProValThrAspThrSerS erAlaSerThrGlyHisAlaThrHisLeuProValThrGlyLeuSerSer AlaSerThrGlyAspThrThrArgLeuProValThrAsnValSerSerAl aSerThrGlyHisAlaThrProLeuLeuValThrAspAlaSerSerValS erThrGlyHisAlaThrSerLeuLeuValThrAspAlaSerSerValSer ThrGlyHisAlaThrAlaLeuHisValThrAspAlaSerSerLeuSerTh rGlyAspThrThrProLeuProValThrSerProSerSerAlaSerThrG lyAspThrThrProLeuProValThrAspThrSerSerValSerThrGly HisAlaThrSerLeuProValThrAspThrSerSerAlaSerThrGlyHi sAlaThrSerLeuProValThrAspThrSerSerAlaSerThrGlyHisA laThrProLeuProValThrAspThrSerSerAlaSerThrGlyGlnAla ThrProLeuProValThrSerProSerSerAlaSerThrGlyHisAlaIl eProLeuLeuValThrAspThrSerSerAlaSerThrGlyGlnAlaThrP roLeuProValThrSerLeuSerSerAlaSerThrGlyAspThrThrPro LeuProValThrAspAlaSerSerValSerThrGly	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	7060/16756	6948/16239	2316/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195784892	T T	TGTCGGTG others(809): Show TGTCGGTGACAGGAAGAGGGGTGGTGTGACCTGTGGATGCTGAGGAAGGG CTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCT GGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCAG TGACAGGAAGCGGGGTGGCGTGACCGGTGGATGCTGAGGAAGGGCTGGTG ACATGAAGAGGGTTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGAC AGGAAGCGGGGTGGCGTGACCGGTGGATATTGAGGAAGTGTCGGTGACAG GAAGAGAGGTGGCGTGACCTATGGATGCTGAGGAAGTGTCGGTGACAGGA AGAAGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGTCAGGAAG AGGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAG GGGTGGTGTCACCTGTGGATACTGAGGAAAGGCTGGTGACAGGAAGAGGG GTGGCCTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGCGT GGTGTCACCTGTGGATACTGAGGAAAGGCTGGTGAGAGGAAGAGGGGTAG CGTGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGCG TGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGTGTG ACCTGAGGATGCTGAGGAAGGGATGGTGACAGGAAGAGAGGTGGCATGAC CTGTGAACACTGAGGAAGCGTCGGTGACAGGAAGAGAGGTGGCGTGACCT GTGGACACTGACGAAGC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03041.hp2 NA19043.hp1 HG03041.hp2 NA19043.hp1	a0014 a0014	a0014c0022 a0014c0022	a0014c0022t0004 a0014c0022t0004	a0014c0022t0004g0245 a0014c0022t0004g0246 a0014c0022t0004g0245 a0014c0022t0004g0246	2	249	0.0080	816	c.668 others(825): Show c.6687_6688insGCTTCGTCAGTGTCCACAGGTCACGCCACCTCTCTT CCTGTCACCGACGCTTCCTCAGTGTTCACAGGTCATGCCACCTCTCTTCC TGTCACCATCCCTTCCTCAGCATCCTCAGGTCACACCACCCCTCTTCCTG TCACCGACGCTTCCTCAGTGTCCACAGGTCACGCCACCCCTCTTCCTGTC ACCGACGCTTCCTCAGTGTCCACAGGTCACGCTACCCCTCTTCCTCTCAC CAGCCTTTCCTCAGTATCCACAGGTGACACCACGCCTCTTCCTGTCACCG ACACTTCCTCAGCATCCACAGGTCAGGCCACCCCTCTTCCTGTCACCAGC CTTTCCTCAGTATCCACAGGTGACACCACCCCTCTTCCTGTCACCGACAC TTCCTCAGCATCCACAGGTCACGCCACCCCTCTTCCTGACACCGACACTT CCTCAGCATCCACAGGTCACGCCACCCTTCTTCCTGTCACCGACACTTCC TCAGCATCCATAGGTCACGCCACCTCTCTTCCTGTCACCGACACTTCCTC AATATCCACCGGTCACGCCACCCCGCTTCCTGTCACCGACACTTCCTCAG CATCCACAGGTCACGCCAACCCTCTTCATGTCACCAGCCCTTCCTCAGCA TCCACCGGTCACGCCACCCCGCTTCCTGTCACTGACACTTCCTCAGCATC CACAGGTCACGCCACCCCTCTTCCTGTCACCAGCCTTTCCTCAGTATCCA CAGGTGACACCACGCCTCTTCCTGTCACTAGCCCTTCCTCAGCATCCACA GGTCACACCACCCCTCTTCCTGTCACCGAC	p.Asp others(831): Show p.Asp2229_Thr2230insAlaSerSerValSerThrGlyHisAlaThr SerLeuProValThrAspAlaSerSerValPheThrGlyHisAlaThrSe rLeuProValThrIleProSerSerAlaSerSerGlyHisThrThrProL euProValThrAspAlaSerSerValSerThrGlyHisAlaThrProLeu ProValThrAspAlaSerSerValSerThrGlyHisAlaThrProLeuPr oLeuThrSerLeuSerSerValSerThrGlyAspThrThrProLeuProV alThrAspThrSerSerAlaSerThrGlyGlnAlaThrProLeuProVal ThrSerLeuSerSerValSerThrGlyAspThrThrProLeuProValTh rAspThrSerSerAlaSerThrGlyHisAlaThrProLeuProAspThrA spThrSerSerAlaSerThrGlyHisAlaThrLeuLeuProValThrAsp ThrSerSerAlaSerIleGlyHisAlaThrSerLeuProValThrAspTh rSerSerIleSerThrGlyHisAlaThrProLeuProValThrAspThrS erSerAlaSerThrGlyHisAlaAsnProLeuHisValThrSerProSer SerAlaSerThrGlyHisAlaThrProLeuProValThrAspThrSerSe rAlaSerThrGlyHisAlaThrProLeuProValThrSerLeuSerSerV alSerThrGlyAspThrThrProLeuProValThrSerProSerSerAla SerThrGlyHisThrThrProLeuProValThrAsp	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	6799/16756	6687/16239	2229/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195787031	G G	GACCTGTG others(809): Show GACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGTGTCA CCTGTGGATGCTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCCTGTCC TGTGGATGCTGAGGAAGTGTCGGTGACAAGAAGAGGGATGGCGTGACCTG TGGATGCTGAGGAAGGGCTGGTGACAGGAAGAGGGGTGGCCTGACCTGTG GATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGA TGCTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCGTGACCTGTGGATG CTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCGTGACCTGTGGATACT GAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGA GGAAGGGCTGGTGACAGGAAGAGGGGTGGTGTCTCCTGTGGATAATGAGG AAGCATCGGTGACATGAAGAGCGGTGGCGTGACCTGTGGATACTGAGGAA GCGTCGGTGACAAGAAGAGAGGTGGCGTGACCTGTGGATACTGAGGAAGC GTCGGTGACAAGAAGAGGGGTGGCGTGACCTGTGGATGCCGAGGAAACGT TGGTGACAGGAAGACGGGTGGTGTCACCTGTGGAAGCTGAGGAAAGGCCG GTGACAGGAAGATGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGT GACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGCGTCGGTGA CAGGAAGAGGGGTGGTGTGACCTGAGGATGCTGAGGAAGGGCTGGTGACA GGAAGAGGGGTGGTGTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03688.hp1 HG03688.hp1	a0081 a0081	a0081c0189 a0081c0189	a0081c0189t0011 a0081c0189t0011	a0081c0189t0011g0206 a0081c0189t0011g0206	1	249	0.0040	816	c.454 others(825): Show c.4548_4549insGACACCACCCCTCTTCCTGTCACCAGCCCTTCCTCA GCATCCTCAGGTCACACCACCCCTCTTCCTGTCACCGACGCTTCCTCAGC ATCCACAGGTGACACCACCCCTCTTCCTGTCACCGACACTTCCTCAGCAT CCACAGGTCACGCCACCCATCTTCCTGTCACCGGCCTTTCCTCAGCTTCC ACAGGTGACACCACCCGTCTTCCTGTCACCAACGTTTCCTCGGCATCCAC AGGTCACGCCACCCCTCTTCTTGTCACCGACGCTTCCTCAGTATCCACAG GTCACGCCACCTCTCTTCTTGTCACCGACGCTTCCTCAGTATCCACAGGT CACGCCACCGCTCTTCATGTCACCGATGCTTCCTCATTATCCACAGGAGA CACCACCCCTCTTCCTGTCACCAGCCCTTCCTCAGCATCCACAGGTGACA CCACCCCTCTTCCTGTCACCGACACTTCCTCAGTATCCACAGGTCACGCC ACCTCTCTTCCTGTCACCGACACTTCCTCAGCATCCACAGGTCACGCCAC CTCTCTTCCTGTCACCGACACTTCCTCAGCATCCACAGGTCACGCCACCC CTCTTCCTGTCACCGACACTTCCTCAGCATCCACAGGTCAGGCCACCCCT CTTCCTGTCACCAGCCCTTCCTCAGCATCCACAGGTCACGCCATCCCTCT TCTTGTCACCGACACTTCCTCAGCATCCACAGGACAGGCCACCCCTCTTC CTGTCACCAGCCTTTCCTCAGCATCCACAGGTGACACCACCCCTCTTCCT GTCACCGACGCTTCCTCAGTGTCCACAGGT	p.Gly others(831): Show p.Gly1516_His1517insAspThrThrProLeuProValThrSerPro SerSerAlaSerSerGlyHisThrThrProLeuProValThrAspAlaSe rSerAlaSerThrGlyAspThrThrProLeuProValThrAspThrSerS erAlaSerThrGlyHisAlaThrHisLeuProValThrGlyLeuSerSer AlaSerThrGlyAspThrThrArgLeuProValThrAsnValSerSerAl aSerThrGlyHisAlaThrProLeuLeuValThrAspAlaSerSerValS erThrGlyHisAlaThrSerLeuLeuValThrAspAlaSerSerValSer ThrGlyHisAlaThrAlaLeuHisValThrAspAlaSerSerLeuSerTh rGlyAspThrThrProLeuProValThrSerProSerSerAlaSerThrG lyAspThrThrProLeuProValThrAspThrSerSerValSerThrGly HisAlaThrSerLeuProValThrAspThrSerSerAlaSerThrGlyHi sAlaThrSerLeuProValThrAspThrSerSerAlaSerThrGlyHisA laThrProLeuProValThrAspThrSerSerAlaSerThrGlyGlnAla ThrProLeuProValThrSerProSerSerAlaSerThrGlyHisAlaIl eProLeuLeuValThrAspThrSerSerAlaSerThrGlyGlnAlaThrP roLeuProValThrSerLeuSerSerAlaSerThrGlyAspThrThrPro LeuProValThrAspAlaSerSerValSerThrGly	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	4660/16756	4548/16239	1516/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195788109	A A	ATCGGTGA others(809): Show ATCGGTGACAGGAAGCGGCGTGGTGTCACCAGTGGATGCTGAGGAAAGGC TGGTGACAGGAAGAGGGGTGGCCTGTCCTGTAGATACTGAGGAAGTGTCG GTGACCGGAAGAGGGGTGGCATGACCTGTGGACACTGAGGAAGCGTCGGT GACAGGAAGAGGGGTGGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGA CAGGAAGAGAGGTGGCGTGACCTGTGGGTACTGAGGAAGCGTCGGTGACA GGAAGAGGGGTGGTGTGACCTGAGGATGCTGAGGAAGGGCTAGTGACAGG AAGAGGCGTGGTGTCACCTGTGGATGCTGAGGAAAGGCTGGTGACAGGAA GAGAGGTGGCGTGACCTGTGGATACTGAGGAAGCGTCGGTGACATGAAGA GGGGTGGTGTCACCTGTGGATGCTGAGTTAGTGTCGGTGACAGGAAGAGG GGTGGTGTCACCTGTGGATACTGAGGAAGCGTCGGTGACAAGAAGAGAGG TGGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGAGGTG GTGTGACCTGAAGATGCTGAGGAAGGGATGGTGACAGGAAGAGAGGTGGT GTCACCTGTGGATGCTGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGTGT CACCTGTGGATGCTGAGGAAGGGCTGGTGACAGGAAGAGGGATGGCCTGA CCTGTGGATGCCGAGGAAACGTCGGTGACAGGAAGACGGGTGGTGTCATC TGTGGAAGCTGAAGAAAGGCCGGTGACAGGAAGTGGGGTGGCGTGAGCTG TGGATACTGAGGAAGTG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02273.hp1 HG02273.hp1	a0113 a0113	a0113c0047 a0113c0047	a0113c0047t0001 a0113c0047t0001	a0113c0047t0001g0126 a0113c0047t0001g0126	1	249	0.0040	816	c.347 others(825): Show c.3470_3471insCACTTCCTCAGTATCCACAGCTCACGCCACCCCACT TCCTGTCACCGGCCTTTCTTCAGCTTCCACAGATGACACCACCCGTCTTC CTGTCACCGACGTTTCCTCGGCATCCACAGGTCAGGCCATCCCTCTTCCT GTCACCAGCCCTTCCTCAGCATCCACAGGTGACACCACCCCTCTTCCTGT CACCGACGCTTCCTCAGCATCCACAGGTGACACCACCTCTCTTCCTGTCA CCATCCCTTCCTCAGCATCTTCAGGTCACACCACCTCTCTTCCTGTCACC GACGCTTCCTCAGTGTCCACAGGTCACGCCACCTCTCTTCTTGTCACCGA CGCTTCCTCAGTATCCACAGGTGACACCACCCCTCTTCCTGTCACCGACA CTAACTCAGCATCCACAGGTGACACCACCCCTCTTCATGTCACCGACGCT TCCTCAGTATCCACAGGTCACGCCACCTCTCTTCCTGTCACCAGCCTTTC CTCAGCATCCACAGGTGACACCACGCCTCTTCCTGTCACTAGCCCTTCCT CAGCATCCTCAGGTCACACCACCCCTCTTCCTGTCACCGACGCTTCCTCA GTACCCACAGGTCACGCCACCTCTCTTCCTGTCACCGACGCTTCCTCAGT GTCCACAGGTCACGCCACCCCTCTTCCTGTCACCGACGCTTCCTCAGTGT CCACAGGTCATGCCACCCCTCTTCCGGTCACCGACACTTCCTCAGTATCT ACAGGACAGGCCACCCCTCTTCCTGTCACCAGCCTTTCCTCAGCATCCAC TGGTGACACCACGCCGCTTCCTGTCACCGA	p.Asp others(831): Show p.Asp1157_Ala1158insThrSerSerValSerThrAlaHisAlaThr ProLeuProValThrGlyLeuSerSerAlaSerThrAspAspThrThrAr gLeuProValThrAspValSerSerAlaSerThrGlyGlnAlaIleProL euProValThrSerProSerSerAlaSerThrGlyAspThrThrProLeu ProValThrAspAlaSerSerAlaSerThrGlyAspThrThrSerLeuPr oValThrIleProSerSerAlaSerSerGlyHisThrThrSerLeuProV alThrAspAlaSerSerValSerThrGlyHisAlaThrSerLeuLeuVal ThrAspAlaSerSerValSerThrGlyAspThrThrProLeuProValTh rAspThrAsnSerAlaSerThrGlyAspThrThrProLeuHisValThrA spAlaSerSerValSerThrGlyHisAlaThrSerLeuProValThrSer LeuSerSerAlaSerThrGlyAspThrThrProLeuProValThrSerPr oSerSerAlaSerSerGlyHisThrThrProLeuProValThrAspAlaS erSerValProThrGlyHisAlaThrSerLeuProValThrAspAlaSer SerValSerThrGlyHisAlaThrProLeuProValThrAspAlaSerSe rValSerThrGlyHisAlaThrProLeuProValThrAspThrSerSerV alSerThrGlyGlnAlaThrProLeuProValThrSerLeuSerSerAla SerThrGlyAspThrThrProLeuProValThrAsp	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	3582/16756	3470/16239	1157/5412			chr3	TogoVar
MUSK_chr9_110663791_110811558	110690451	A A	AATATATA others(809): Show AATATATATATTTAAATATAAGTATATATAAATATATATATTTCAATATA AGTATATATAAATATATATATTTCAATATAAGTATATATAAATATATATA TTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATATATA AATATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATA TAAGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAATA TATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAAG TATGTATATAAATATATATATTTCAATATAAGTATGTATATAAATATATA TATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAAGTATG TATATAAATATATATATTTCAATATGAGTATATAAAAATATATATATTTC AATATGAGTATATATAAAAATATATATATTTCAATATGAGTATGTATAAA AATATATATATTTCAATATGAGTATGTATAAAAATATATATATTTCAATA TAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTATAAATATA TATATTTCAATATAAGTATGTATAAATATATATATTTCAATATAAGTATA TATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATATATT TAAATATAAGTATATATAAAAATATATATATTTAAATATAAGTATATATA AAAATATATATATTTAAATATAAGTATATATAAAAATATATATATTTAAA TATAAGTATATATAAAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0027 a0001c0001t0009g0027	1	326	0.0031	816	c.358 others(833): Show c.358+3191_358+3192insATTTAAATATAAGTATATATAAATATAT ATATTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATAT ATAAATATATATATTTCAATATAAGTATATATAAATATATATATTTCAAT ATAAGTATATATAAATATATATATTTCAATATAAGTATGTATATAAATAT ATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAAGT ATGTATATAAATATATATATTTCAATATAAGTATGTATATAAATATATAT ATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAAGTATGT ATATAAATATATATATTTCAATATAAGTATGTATATAAATATATATATTT CAATATAAGTATGTATATAAATATATATATTTCAATATGAGTATATAAAA ATATATATATTTCAATATGAGTATATATAAAAATATATATATTTCAATAT GAGTATGTATAAAAATATATATATTTCAATATGAGTATGTATAAAAATAT ATATATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGT ATGTATAAATATATATATTTCAATATAAGTATGTATAAATATATATATTT CAATATAAGTATATATAAAAATATATATATTTCAATATAAGTATATATAA AAATATATATATTTAAATATAAGTATATATAAAAATATATATATTTAAAT ATAAGTATATATAAAAATATATATATTTAAATATAAGTATATATAAAAAT ATATATATTTAAATATAAGTATATATAAATATATATAT		MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr9	TogoVar
OR3A2_chr17_3271177_3391308	3327954	C C	CTTGTAGT others(809): Show CTTGTAGTATAGTATAGTATACTATACTACAGTATAGTATAGTATACTAT ACTACAGTATAGTATAGTATACTATACTACAGTATAGTATAGTATACTAT ACTACAGTATAGTATAGTATACTATACTACAGTATAGTATAGTATACTAT ACTACAGTATAGTATAGTATACTATACTACAGTATAGTATAGTATACTAT ACTACAGTATAGTATAGTATACTATACTACAGTATAGTATAGTATACTAT ACTACAGTATAGTATAGTATACTATACTACAGTATAGTATAGTATACTAT ACTACAGTATAGTATAGTATACTATACTACAGTATAGTATAGTATACTAT ACTACAGTATAGTATAGTATACTATACTACAGTATAGTATAGTATACTAT ACTACAGTATAGTATAGTATACTATACTACAGTATAGTATAGTATACTAT ACTACAGTATAGTATAGTATACTATACTACAGTATAGTATAGTATACTAT ACTACAGTATAGTATAGTATACTATACTACAGTATAGTATAGTATACTAT ACTACAGTATAGTATAGTATACTATACTACAGTATAGTATAGTATACTAT ACTACAGTATAGTATAGTATACTATACTACAGTATAGTATAGTATACTAT ACTACAGTATAGTATAGTATACTATACTACAGTATAGTATAGTATACTAT ACTACAGTATAGTATAGTATACTATACTACAGTATAGTATAGTATACTAT ACTACAGTATAGTATAGTATACTATACTACAGTATAGTATAGTATACTAT ACTACAGTATAGTATAG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0301 a0002c0002t0004g0301	1	318	0.0031	816	c.-27 others(835): Show c.-279+8074_-279+8075insCTATACTATACTGTAGTATAGTATAC TATACTATACTGTAGTATAGTATACTATACTATACTGTAGTATAGTATAC TATACTATACTGTAGTATAGTATACTATACTATACTGTAGTATAGTATAC TATACTATACTGTAGTATAGTATACTATACTATACTGTAGTATAGTATAC TATACTATACTGTAGTATAGTATACTATACTATACTGTAGTATAGTATAC TATACTATACTGTAGTATAGTATACTATACTATACTGTAGTATAGTATAC TATACTATACTGTAGTATAGTATACTATACTATACTGTAGTATAGTATAC TATACTATACTGTAGTATAGTATACTATACTATACTGTAGTATAGTATAC TATACTATACTGTAGTATAGTATACTATACTATACTGTAGTATAGTATAC TATACTATACTGTAGTATAGTATACTATACTATACTGTAGTATAGTATAC TATACTATACTGTAGTATAGTATACTATACTATACTGTAGTATAGTATAC TATACTATACTGTAGTATAGTATACTATACTATACTGTAGTATAGTATAC TATACTATACTGTAGTATAGTATACTATACTATACTGTAGTATAGTATAC TATACTATACTGTAGTATAGTATACTATACTATACTGTAGTATAGTATAC TATACTATACTGTAGTATAGTATACTATACTATACTGTAGTATAGTATAC TATACTATACTGTAGTATAGTATACTATACTATACTGTAGTATAGTATAC TATACTATACTGTAGTATAGTATACTATACTATACTACAA		OR3A2	ENSG00000221882.5	transcript	ENST00000573901.3	protein_coding	2/4						chr17	TogoVar

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Search Results (Total: 7053 hits)