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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
TRAF6_chr11_36478769_36515272	36507168	C C	CATACGTA others(625): Show CATACGTAAATGTATATATGTATATATACATGTATTATACATACGTAAAT GTATATATGTATATATACATGTATTATACATACGTAAATGTATATATGTA TATATACATGTATTATACATACGTAAATGTATATATGTATATATACATGT ATTATACATACGTAAATGTATATATGTATATATACATGTATTATACATAC GTAAATGTATATATGTATATATACATGTATTATACATACGTAAATGTATA TATGTATATATACATGTATTATACATACGTAAATGTATATATGTATATAT ACATGTATTATACATACGTAAATGTATAATGTATATATACATGTATTATA CATACGTAAATGTATAATGTATATATACATTATACATACGTAAATGTATA ATGTATATATACATTATACATACGTAAATGTATAATGTATATATACATTA TACATACGTAAATGTATAATGTATATATACATTATACATACGTAAATGTA TAATGTATATATACATTATACATACGTAAATGTATAATGTATATATACAT TATACATACGTAAATGTATAATGTATATATACATTATACATACGTAAATG TATATATATACATTATACATACGTAAATGTATT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0135 a0003c0006t0001g0135	1	388	0.0026	632	c.-23 others(649): Show c.-23+2879_-23+2880insAATACATTTACGTATGTATAATGTATAT ATATACATTTACGTATGTATAATGTATATATACATTATACATTTACGTAT GTATAATGTATATATACATTATACATTTACGTATGTATAATGTATATATA CATTATACATTTACGTATGTATAATGTATATATACATTATACATTTACGT ATGTATAATGTATATATACATTATACATTTACGTATGTATAATGTATATA TACATTATACATTTACGTATGTATAATGTATATATACATTATACATTTAC GTATGTATAATACATGTATATATACATTATACATTTACGTATGTATAATA CATGTATATATACATATATACATTTACGTATGTATAATACATGTATATAT ACATATATACATTTACGTATGTATAATACATGTATATATACATATATACA TTTACGTATGTATAATACATGTATATATACATATATACATTTACGTATGT ATAATACATGTATATATACATATATACATTTACGTATGTATAATACATGT ATATATACATATATACATTTACGTATGTATAATACATGTATATATACATA TATACATTTACGTATGTATAATACATGTATATATACATATATACATTTAC GTAT	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273323	T T	TTATATAT others(625): Show TTATATATATTATATATATATAAAAATTATATATATATTATATATATAAA AATTATATATATATTATATATATATAAAAATTATATATATATTATATATA TATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTA TATATAAAAATTATATATATTATATATATAAAAATTATATATATATTATA TATATAAAAATTATATATATATTATATATATATAAAAATTATATATATAT TATATATATATAAAAATTATATATATATTATATATATATAAAAATTATAT ATATATTATATATATATAAAAATTATATATATATTATATATATATAAAAA TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATAATATATATATAAAAATTATAT ATATATTATATATATATAAAAATTATATATATATTATATATATATAAAAA TTATATATATATTGTATATATATAAAAATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	1	272	0.0037	632	c.28 others(643): Show c.2888_*2889insTATATATATTATATATATATAAAAATTATATATA TATTATATATATAAAAATTATATATATATTATATATATATAAAAATTATA TATATATTATATATATATAAAAATTATATATATATTATATATATATAAAA ATTATATATATATTATATATAAAAATTATATATATTATATATATAAAAAT TATATATATATTATATATATAAAAATTATATATATATTATATATATATAA AAATTATATATATATTATATATATATAAAAATTATATATATATTATATAT ATATAAAAATTATATATATATTATATATATATAAAAATTATATATATATT ATATATATATAAAAATTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATATAT AAAAATTATATATATATTATATATATATAAAAATTATATATATAATATAT ATATAAAAATTATATATATATTATATATATATAAAAATTATATATATATT ATATATATATAAAAATTATATATATATTGTATATATATAAAAATTATA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2210		chr11	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(625): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTT CCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCC CCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTC CTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTC CCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTT TCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCC TTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCT CTCTTCCCCCTTCCTCCCTCCTCCTTTCCCCCTTCCCCCCTCCTCCCTTC CCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTT TCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCC TTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCT CTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	334	0.0030	632	c.657 others(647): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCT CCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTC CCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTC CTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTC CCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCT CCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCC TTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCC TCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCCCCTTC CCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCT CCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCC TTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCC TCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTCTC CC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
UBE2E3_chr2_180975605_181068425	181021562	T T	TCCTTCCT others(625): Show TCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTC CTCCCTCCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCT CCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCC CTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCT CCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCC CTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTCCCTCC CTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCT TCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTTC CTTCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCT TCCTCCCTCCCTCCCTTCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTC CTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTTCCTTCCT CCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	338	0.0030	632	c.246 others(651): Show c.246-36120_246-36119insTCCTCCCTCCCTCCCTCCCTTCTTTC CTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCT CCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCCTTC CTTCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCT TCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCC CTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCT TCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTC CTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCT CCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCC CTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTCCCT CCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTCCCTTCCTTCCTCCCTCC CTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCT CCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTCCCTTC CTTCCT	UBE2E3	ENSG00000170035.16	transcript	ENST00000410062.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CTATAGAT others(625): Show CTATAGATAGACATATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTAT CGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0348 a0001c0001t0001g0348	1	408	0.0025	632	c.53+ others(647): Show c.53+2017_53+2018insTATAGATAGACATATAGATGTATCTATCGA TAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA GATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGA TAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATA GATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGA TGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATC GATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGA TGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATG TATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCGATAGA TAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATA GATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGA TGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATC TATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGA TA	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23			chr20	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CTATAGAT others(625): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTAT CTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATCT ATCGATAGACAGATAGATGTATCTATCGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTAT CGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	408	0.0025	632	c.53+ others(647): Show c.53+2017_53+2018insTATAGATAGACATATAGATGTATCTATCTA TAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGTATC TATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATCTA TCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATCTATC GATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATCTATCGA TAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATCTATCGATA GATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGA TGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATC GATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGA TAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATA GATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTA TCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATC GATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGA TA	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23			chr20	TogoVar
ZNF365_chr10_62369369_62407450	62370997	A A	ATATATAT others(625): Show ATATATATCATATATGTGATATATATCATATATATCAAATATATGATATA TATCATATATGTGATATATATCACATATGTGATATATATCATATCACATA TCATATGACATATCATATCACATATCACATATCACATATCACATATCACA TATCATATGATATATATCACATGTGATATATAGCATATGTGATATATATC ATATATATCACATGTGATATATAGCATATGTGATATATATCATATATATC ACATATGCTATATAGCATATGTGATATATATCATATATATCACATATGCT ATATAGCATATGTGATATATATGATATATATCACATATGCTATATAGCAT ACGTGATATATATCATATATATCATATATGATGTATAGCATGATATATAT GCTATATATCACATGTGATATATAGCATATATATCACATGTGATATATAG CATATATATCACATGTGATATATAGCATATATATCACATGTGATATATAG CATATATATCACATGTGATATATAGCATATGTGATATATATGATATATGT GATATATATCATATGTGATATATATGATATATATCACATATATATGATAT ATATCACATATATATCATATATATCATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0156 a0002c0002t0007g0156	1	350	0.0029	632	c.-34 others(643): Show c.-3475_-3474insTATATATCATATATGTGATATATATCATATATAT CAAATATATGATATATATCATATATGTGATATATATCACATATGTGATAT ATATCATATCACATATCATATGACATATCATATCACATATCACATATCAC ATATCACATATCACATATCATATGATATATATCACATGTGATATATAGCA TATGTGATATATATCATATATATCACATGTGATATATAGCATATGTGATA TATATCATATATATCACATATGCTATATAGCATATGTGATATATATCATA TATATCACATATGCTATATAGCATATGTGATATATATGATATATATCACA TATGCTATATAGCATACGTGATATATATCATATATATCATATATGATGTA TAGCATGATATATATGCTATATATCACATGTGATATATAGCATATATATC ACATGTGATATATAGCATATATATCACATGTGATATATAGCATATATATC ACATGTGATATATAGCATATATATCACATGTGATATATAGCATATGTGAT ATATATGATATATGTGATATATATCATATGTGATATATATGATATATATC ACATATATATGATATATATCACATATATATCATATATATCATATATAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3371		chr10	TogoVar
ZNF705A_chr12_8152015_8185046	8184239	C C	CGGCCAGC others(625): Show CGGCCAGCCACCCCGTCCGGGAAGTGAGGGGTGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCTCCGTCCGGGA GGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGTCAGCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGATCAGCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCAGGAGGT GAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCC ACCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCTCCGTCC GGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCAGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGTCAGCCCCCCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp1 HG03710.hp2 HG03669.hp1 HG03710.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0008 a0002c0001t0002g0008	2	420	0.0048	632	c.66 others(643): Show c.6656_*6657insGGCCAGCCACCCCGTCCGGGAAGTGAGGGGTGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGCTCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCAGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCAGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCACCTGGCCAGCCG CCCCGTCCAGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCAGCCGCTCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCAGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCACCT	ZNF705A	ENSG00000196946.11	transcript	ENST00000396570.8	protein_coding		4194		chr12	TogoVar
ADAMTS3_chr4_72275969_72574221	72314008	G G	GTATTTTT others(626): Show GTATTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATGTGTGACT CAATTCATTTATTAAGGCAGAGCCTTCCTGATCCAATCACCTGTTAAAGT CCCCACCTCTCAATACTGCCATATTAGAGATTAAGTTTCAACATGAGTTT TGGAGGAGACATTCAAAGCATAGCAGACATGCTCTACAAAACTATAATTC CAAGTACAAAGATCTTCCTTAATCTATTTATTACAATGCTTAATTTAAAG GACATGGCAAACAGCATACCATCGGTAAGAAAGATAATTCCCAATGTGAT AAAATGTATTATCATTCTCACTCTTTTGTAACACTTAGAAACACAGCACT TCATTCCAATGACTTTAAACAAGAAAATGCAGCAAGTACAGGGAAAATTA GGCAAAACTATTCGTGGAAATCTGTTTCATAATTTGTGTTTTAGTGATCT GCCCACCTACCTCTCCTTTGACATTCAATTCTTAATGAGCTCTAAGATTG CTTTCTGCCAAGCCATAGAAATAATTGTACTTTTCAATTAAGTATCCATT TAAATTGGTTGGCCTAAAAACTCTAAACAAATATCAGCGGCTTTATTTTT TTTTTCTTTTTTAATTATTATTATTATTATACTC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0008 a0001c0001t0005g0008	1	182	0.0055	633	c.160 others(650): Show c.1600-187_1600-186insGAGTATAATAATAATAATAATTAAAAAA GAAAAAAAAAATAAAGCCGCTGATATTTGTTTAGAGTTTTTAGGCCAACC AATTTAAATGGATACTTAATTGAAAAGTACAATTATTTCTATGGCTTGGC AGAAAGCAATCTTAGAGCTCATTAAGAATTGAATGTCAAAGGAGAGGTAG GTGGGCAGATCACTAAAACACAAATTATGAAACAGATTTCCACGAATAGT TTTGCCTAATTTTCCCTGTACTTGCTGCATTTTCTTGTTTAAAGTCATTG GAATGAAGTGCTGTGTTTCTAAGTGTTACAAAAGAGTGAGAATGATAATA CATTTTATCACATTGGGAATTATCTTTCTTACCGATGGTATGCTGTTTGC CATGTCCTTTAAATTAAGCATTGTAATAAATAGATTAAGGAAGATCTTTG TACTTGGAATTATAGTTTTGTAGAGCATGTCTGCTATGCTTTGAATGTCT CCTCCAAAACTCATGTTGAAACTTAATCTCTAATATGGCAGTATTGAGAG GTGGGGACTTTAACAGGTGATTGGATCAGGAAGGCTCTGCCTTAATAAAT GAATTGAGTCACACATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAA AAATA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	11/21			chr4	TogoVar
ARHGAP39_chr8_144524179_144690846	144687228	C C	CCCCGTGA others(626): Show CCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACA CTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACT TCCCACCCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGAC CACACACTGGCGGTGAGCACTTCCCACCCCCGTGACCACACACTAGCGGT GAGCACTTCCCACCCCGTGACCACTCATTTACAGCGAGCACTTCCCACCC CGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTA GCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCC CACCCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCAC ACACTGGCGGTGAGCACTTCCCACCCCCGTGACCACACACTAGCGGTGAG CACTTCCCACCCCGTGACCACTCATTTACAGCGAGCACTTCCCACCCCGT GACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCG GTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCAC CCCGTGACCACACATTTACAGTGAGCACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0186 a0001c0001t0005g0186	1	246	0.0041	633	c.-16 others(644): Show c.-1625_-1624insTGGGAAGTGCTCACTGTAAATGTGTGGTCACGGG GTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCAC CGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTC ACGGGGTGGGAAGTGCTCGCTGTAAATGAGTGGTCACGGGGTGGGAAGTG CTCACCGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTGT GTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGGTG GGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGC TAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACG GGGTGGGAAGTGCTCGCTGTAAATGAGTGGTCACGGGGTGGGAAGTGCTC ACCGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTG GTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGGTGGGA AGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAG TGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1383		chr8	TogoVar
ATP11A_chr13_112685038_112892168	112804042	T T	TCCCCTCC others(626): Show TCCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTC CTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCC TCCTTCCCTCCTTCACCTCCCTCCCTGCCATCCCCTCTCTGCCCTCCTTC CCCTCCTTCCCTCCTTCACCTCCCTCCCCCCCATCCCCTCTCTGCCCTCC TTCCCCTCCTTTTCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCC TCCTTCCCCTCCTTTTCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTG CCCTCCTTCCCCTCCTTTTCCTCCTTCCCTCCTTCACCTCCCTCCCCCCA TCCCCTCTCTGCCCTCGTTCCCCTCCTTCCCTCCTTCACCTCCCTCCCCC CATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTCACCTCCCTCC CCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTCACCTCCC TCCCCCCATCCCCTCTCTGCCCTCGTTCCCCTCCTTTTCCTCCTTCACCT CCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTCA CCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0192 a0002c0003t0002g0192	1	254	0.0039	633	c.163 others(648): Show c.163-912_163-911insCTCCTTCCCTCCTTCACCTCCCTCCCCCCA TCCCCTCTCTGCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTC TCTGCCCTCCTTCCCCTCCTTCCCTCCTTCACCTCCCTCCCTGCCATCCC CTCTCTGCCCTCCTTCCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCCAT CCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTCACCTCCCTCCCCC CATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTCACCTCCCTCC CCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTCCCTCCTT CACCTCCCTCCCCCCATCCCCTCTCTGCCCTCGTTCCCCTCCTTCCCTCC TTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCC TCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTT TCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCGTTCCCCTCC TTTTCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCC TCCTTTTCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTC CCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP6V0C_chr16_2508952_2525218	2524018	C C	CATGCACT others(626): Show CATGCACTGCAGTGCAGGTGTCTTAACCCTTGGCGCACACACAGGATGAA GGCAGAGAGCCAACTATTGAGGGTGGGAATTGGGAAGCCTCCTGCCTGGA TCATCTTAGAAACTGGAGGCCCCTTTTCACTCGGGTCTCCCCTGTGCCGT GCACGCCACCTCTTCCAGGGCCCACTCACCCTGGGTGGAATTGGATGGCC ACTTTGCCAGAAGCTTCTTCGGTCTTTTGTTGTCCTGTTCTGGTCCATTA AGACCACCTTCTCTTTTCTGGGGGGTTTCCGCCTGTCCTTTGCTACGGTA CTTGGAGACAGGTGAGCTCACTTTGTTCTTTGCTTTAAGTCTGTTACCTC CTGAGCCAAGGTGAGGCACCTCCAGGGGGCAGCCAGGCCCCTGCCTCTGG CCCCGCACACCCTCTACACTTTGACCTTTCCGGCTGTTTACCTGCCTGGA GTGTGCCTCACTCCCCTCCCCTCAGTTGATCTTTTACTGTGCTCTCTCTA TGTAGCGCCCTCTTGCTCCCTTCTAAAACTCCATTCTGGAAAAACTCAGC CATTGTCTTTTTTTGTTTGTTTTTTTCCTGTTTTAATCTTTAGTGAGCCT GTGTATCCATAGGGCTTGTGAGGAAAAACAGCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	336	0.0030	633	c.42 others(644): Show c.4273_*4274insATGCACTGCAGTGCAGGTGTCTTAACCCTTGGCG CACACACAGGATGAAGGCAGAGAGCCAACTATTGAGGGTGGGAATTGGGA AGCCTCCTGCCTGGATCATCTTAGAAACTGGAGGCCCCTTTTCACTCGGG TCTCCCCTGTGCCGTGCACGCCACCTCTTCCAGGGCCCACTCACCCTGGG TGGAATTGGATGGCCACTTTGCCAGAAGCTTCTTCGGTCTTTTGTTGTCC TGTTCTGGTCCATTAAGACCACCTTCTCTTTTCTGGGGGGTTTCCGCCTG TCCTTTGCTACGGTACTTGGAGACAGGTGAGCTCACTTTGTTCTTTGCTT TAAGTCTGTTACCTCCTGAGCCAAGGTGAGGCACCTCCAGGGGGCAGCCA GGCCCCTGCCTCTGGCCCCGCACACCCTCTACACTTTGACCTTTCCGGCT GTTTACCTGCCTGGAGTGTGCCTCACTCCCCTCCCCTCAGTTGATCTTTT ACTGTGCTCTCTCTATGTAGCGCCCTCTTGCTCCCTTCTAAAACTCCATT CTGGAAAAACTCAGCCATTGTCTTTTTTTGTTTGTTTTTTTCCTGTTTTA ATCTTTAGTGAGCCTGTGTATCCATAGGGCTTGTGAGGAAAAACAGCGG	ATP6V0C	ENSG00000185883.12	transcript	ENST00000330398.9	protein_coding		3801		chr16	TogoVar
B4GALNT4_chr11_364499_387117	374880	G G	GAGGGAGG others(626): Show GAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAAGGGAGG GAGGGAGGAGGAAGGGAGGGAGGGAGGGAGGGAGGAGGAAGGGAGGGAGG GAGGAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGGAGGGAGGG AGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGA GGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAG GGAGGAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG TGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAA GGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAG GGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGAGGG AGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGA GGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAG GAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA AGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	184	0.0054	633	c.784 others(648): Show c.784-574_784-573insAGGAAGGGAGGGAGGGAGGAGGAAGGGAGG GAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGGAGGGAGGAGG AAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGG AGGGAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGA GGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAG GAAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGG AAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGG AGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGA GGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAG GAGGAAGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGG AGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAG GAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGG GAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGG AGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
C17orf67_chr17_56786913_56838920	56792730	A A	ATGATGGT others(626): Show ATGATGGTGATGATGGGGGTGATGGTGATGGTGGTGAGAGTGGTGGTGGG GGTGGTAGTGGTGGAGATGGAGGTAGTGGTGATGGTGACGATGGTAGTGA TGGTGGTGGTGGTGGTGGTGGTGACAGTGATGATGATGGTGAGAGTGGTG GTGGTGGTGGTCATGGTGGTGGTGGTGGTGGTGGTGATGGTAATGATGGG GGTGACGGTGGTGGTGATGATGGTGGTGATGGTGATGGTGGTGATGGTGG TGGTGATGGTGGTGGTGGTGGTGGTGATGATGGTGGTGATGGTGGTGATA GTGATGATGGTGGTGATGGTGGTGGTGATGGTGGTGGTGATGGTGATGAT GGTGGTGATGGTGGTGGTGGTGATGGTGGTGACGGTGATGGTGGTGATGG TGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGATGATG GTGGTGATGGTGGTGGTGATGGTGAGATGGTGGTGATGGTGGTGATGGTG ATGGTGATGGTGGCAGTGATGGTGGTGATGGTGGTGGTGGTGATGGTGAT GGTGGTGATGGTGGTGATGGTGGTGGTGATGGTGATGGTGGTGGTGGTGA TGGTGGTGGTGGTGGTGATGGTGGTGATGGTGAT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0039 a0001c0001t0012g0039	1	292	0.0034	633	c.21 others(648): Show c.21-379_*21-378insATCACCATCACCACCATCACCACCACCACC ACCATCACCACCACCACCATCACCATCACCACCACCATCACCACCATCAC CACCATCACCATCACCACCACCACCATCACCACCATCACTGCCACCATCA CCATCACCATCACCACCATCACCACCATCTCACCATCACCACCACCATCA CCACCATCATCACCATCACCACCACCACCACCACCACCATCACCATCACC ACCACCATCACCACCATCACCGTCACCACCATCACCACCACCACCATCAC CACCATCATCACCATCACCACCACCATCACCACCACCATCACCACCATCA TCACTATCACCACCATCACCACCATCATCACCACCACCACCACCACCATC ACCACCACCATCACCACCATCACCATCACCACCATCATCACCACCACCGT CACCCCCATCATTACCATCACCACCACCACCACCACCACCATGACCACCA CCACCACCACTCTCACCATCATCATCACTGTCACCACCACCACCACCACC ACCATCACTACCATCGTCACCATCACCACTACCTCCATCTCCACCACTAC CACCCCCACCACCACTCTCACCACCATCACCATCACCCCCATCATCACCA TCA	C17orf67	ENSG00000214226.9	transcript	ENST00000397861.7	protein_coding	7/7			chr17	TogoVar
C17orf67_chr17_56786913_56838920	56792730	A A	ATGATGGT others(626): Show ATGATGGTGATGATGGGGTGATGGTGATGGTGGTGAGAGTGGTGGTGGGG GTGGTAGTGGTGGAGATGGAGGTAGTGGTGATGGTGACGATGGTAGTGAT GGTGGTGGTGGTGGTGGTGGTGGTGACAGTGATGATGATGGTGAGAGTGG TGGTGGTGGTGGTCATGGTGGTGGTGGTGGTGGTGGTGATGGTAATGATG GGGGTGACGGTGGTGGTGATGATGGTGGTGATGGTGATGGTGGTGATGGT GGTGGTGATGGTGGTGGTGGTGGTGGTGATGATGGTGGTGATGGTGGTGA TAGTGATGATGGTGGTGATGGTGGTGGTGATGGTGGTGGTGATGGTGATG ATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGACGGTGATGGTGGTGAT GGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGATGA TGGTGGTGATGGTGGTGGTGGTGATGATGGTGGTGATGGTGGTGATGGTG GTGATGGTGATGGTGACAGTGATGGTGGTGATGGTGGTGGTGGTGATGGT GATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGG TGATGGTGGTGGTGGTGATGGTGGTGATGGTGAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0200 a0001c0001t0004g0200	1	292	0.0034	633	c.21 others(648): Show c.21-379_*21-378insATCACCATCACCACCATCACCACCACCACC ATCACCACCACCACCATCACCACCACCACCACCATCACCACCATCACCAC CATCACCATCACCACCACCACCATCACCACCATCACTGTCACCATCACCA TCACCACCATCACCACCATCACCACCATCATCACCACCACCACCATCACC ACCATCATCACCATCACCACCACCACCACCACCACCATCACCATCACCAC CACCATCACCACCATCACCGTCACCACCATCACCACCACCACCATCACCA CCATCATCACCATCACCACCACCATCACCACCACCATCACCACCATCATC ACTATCACCACCATCACCACCATCATCACCACCACCACCACCACCATCAC CACCACCATCACCACCATCACCATCACCACCATCATCACCACCACCGTCA CCCCCATCATTACCATCACCACCACCACCACCACCACCATGACCACCACC ACCACCACTCTCACCATCATCATCACTGTCACCACCACCACCACCACCAC CACCATCACTACCATCGTCACCATCACCACTACCTCCATCTCCACCACTA CCACCCCCACCACCACTCTCACCACCATCACCATCACCCCATCATCACCA TCA	C17orf67	ENSG00000214226.9	transcript	ENST00000397861.7	protein_coding	7/7			chr17	TogoVar
CABP5_chr19_48024383_48049079	48043533	C C	CCACCACC others(626): Show CCACCACCATCATCATCACCATCATCAACACCATCATCATCACCATCATC ACCACCACCACCACCATAACCACCACCACCACCATCACCACCATCTCACC ATCACCACCACCATCATCATCACCATCACCACCATCACCACCATCTCACC ATCACCATCACCACCACCATCACCACCACCATCACCATCACCATCACCAC CACCACCATCACCACCAGCACCACCAGCACCACCACCATCAACATCATCA TCATCACCACCATCACCACCATCATCACCACCACCGTCATCACCACCAGC ACCACCATCACCACCACCATCACCACCATCTCACCATCATCACCATCACC ATCACCATCACCACCATCTCACCATCACCATCACCACCATCATCACCACC ACCATCTCACCATCACCATCACCACCATCATCACCACCACCATCACCACC ACCATCACCATCACCATCACCACCATCATCATCACCACCACCACCACCAC CACCACCACCATCATCACCATCACCACCAGCACCACCACCAACATCATCA TCATCACCACCACCACCACCATCACCACCACCACCACCATCAACACCACC ATCATCATCACCACCACCACCATCACCACCATCT	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0285 a0001c0001t0002g0285	1	376	0.0027	633	c.63+ others(646): Show c.63+326_63+327insAGATGGTGGTGATGGTGGTGGTGGTGATGATG ATGGTGGTGTTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGAT GATGATGATGTTGGTGGTGGTGCTGGTGGTGATGGTGATGATGGTGGTGG TGGTGGTGGTGGTGGTGGTGATGATGATGGTGGTGATGGTGATGGTGATG GTGGTGGTGATGGTGGTGGTGATGATGGTGGTGATGGTGATGGTGAGATG GTGGTGGTGATGATGGTGGTGATGGTGATGGTGAGATGGTGGTGATGGTG ATGGTGATGGTGATGATGGTGAGATGGTGGTGATGGTGGTGGTGATGGTG GTGCTGGTGGTGATGACGGTGGTGGTGATGATGGTGGTGATGGTGGTGAT GATGATGATGTTGATGGTGGTGGTGCTGGTGGTGCTGGTGGTGATGGTGG TGGTGGTGATGGTGATGGTGATGGTGGTGGTGATGGTGGTGGTGATGGTG ATGGTGAGATGGTGGTGATGGTGGTGATGGTGATGATGATGGTGGTGGTG ATGGTGAGATGGTGGTGATGGTGGTGGTGGTGGTTATGGTGGTGGTGGTG GTGATGATGGTGATGATGATGGTGTTGATGATGGTGATGATGATGGTGGT G	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding	1/5			chr19	TogoVar
CECR2_chr22_17364460_17563151	17432004	T T	TGACATTT others(626): Show TGACATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTATGG ATTTTGCCCACTCTGGACATTTCCTGTAAGTGGAATCACACAGCCCCACT TTGTGCCTGTATGGATTTGCCCACTCTGGACATTTCCTGTAAGTGGAATC ACACAGCCCCACTTTGTGCCTGTATGGATTTGCCCACTCTGGACATTTCC TGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTATGGATTTGCCCAC TCTGGACATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTA TGGATTTGCCCACTCTGGACATTTCCTGTAAGTGGAATCACACAGCCCCA CTTTGTGCCTGTATGGATTTGCCCACTCTGGACATTTCCTGTAAGTGGAA TCACACAGCCCCACTTTGTGCCTGTATGGATTTGCCCACTCTGGACATTT CCTGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTATGGATTTGCCC ACTCTTGACATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGTGCCTG TATGGATTTTGCCCACTCTGGACATTTCCTGTAAGTGGAATCACACAGCC CCACTTTGTGCCTGTATGGATTTTGCCCACTCTG	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA19043.hp2 NA21309.hp1 HG02886.hp1 NA19043.hp2 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0073 a0004c0004t0017 a0004c0004t0059 a0001c0001t0073 a0004c0004t0017 a0004c0004t0059	a0001c0001t0073g0158 a0004c0004t0017g0313 a0004c0004t0059g0191 a0001c0001t0073g0158 a0004c0004t0017g0313 a0004c0004t0059g0191	3	324	0.0093	633	c.127 others(652): Show c.127-45531_127-45530insTGCCCACTCTGGACATTTCCTGTAAG TGGAATCACACAGCCCCACTTTGTGCCTGTATGGATTTGCCCACTCTGGA CATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTATGGATT TGCCCACTCTGGACATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGT GCCTGTATGGATTTGCCCACTCTGGACATTTCCTGTAAGTGGAATCACAC AGCCCCACTTTGTGCCTGTATGGATTTGCCCACTCTGGACATTTCCTGTA AGTGGAATCACACAGCCCCACTTTGTGCCTGTATGGATTTGCCCACTCTG GACATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTATGGA TTTGCCCACTCTGGACATTTCCTGTAAGTGGAATCACACAGCCCCACTTT GTGCCTGTATGGATTTGCCCACTCTTGACATTTCCTGTAAGTGGAATCAC ACAGCCCCACTTTGTGCCTGTATGGATTTTGCCCACTCTGGACATTTCCT GTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTATGGATTTTGCCCAC TCTGGACATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTA TGGATTT	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(626): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCC TTCCTCCCCCTCCCCCCTTCCTCCCCCTCTTCCCTTCCTCCCCCTCTTCC TCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCCCCCTCTTCCTCTTCCTC CTCCTCCCCCTCTTCCTCCTCCTCCCCCTCCTCCTCCTCTCCCTCCCCCT CCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCC TCCTCCTCCTCCCCTTCCTCCTCCTCCTCCCCTTTCTCTTCCTCCTCCTC CCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0027	a0001c0002t0027g0268 a0001c0002t0027g0268	1	270	0.0037	633	c.162 others(654): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCCTTCCTCCCCCTC CCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCT CTTCCCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCC CCTCCCCCTCTTCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCC TCCTCCTCCTCTCCCTCCCCCTCCTCCTCCTCTTCCTCCTCCACTTCCCC TTCCTCCTCCTCCTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCCT CCCCTTTCTCTTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCT TCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNTN4_chr3_2093866_3062959	2705509	A A	ATATATAA others(626): Show ATATATAAATATATATATAATTTTATATAAATATATATAAATATATATAA TTTTATATAAATATATAAATATATAAAATTTTATATATTTATATATAAAC ATATATAACTTTATATATAAATATATATAATTTTATATATAAATATATAT AATTTTATATATTTATATATAAATATAATTTTATGTATAAATATATATAA TTATATATATATTTATATATAATTTTATATATAAATATATATAATTATAT ATATTTATGTATAAATATAACTTTATATATAAATATATATAATTTTATAT ATATAATTTTATATATAAATATATATAATTATATATATTATATATAAATA TATATAATTTTATATATAATATATATAATTTTATATATTTATATATAAAT ATATATATAATTTATATATAAATATATAAAATTATATATAAATATATATA ATTTATATATAAATATATATAATTTATATATAAATATGTATAATTTTATA TATATAAATAGATATAATTTTATATATTTATTTATATAAATTTTATATAT TTATATAAATATATATTTATATATAAAAATTTATATACAAATATATATAA ATATATACAAATATATATATAAATTTATATAAAT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0095 a0001c0001t0003g0095	1	116	0.0086	633	c.56- others(650): Show c.56-30706_56-30705insTATATAAATATATATATAATTTTATATA AATATATATAAATATATATAATTTTATATAAATATATAAATATATAAAAT TTTATATATTTATATATAAACATATATAACTTTATATATAAATATATATA ATTTTATATATAAATATATATAATTTTATATATTTATATATAAATATAAT TTTATGTATAAATATATATAATTATATATATATTTATATATAATTTTATA TATAAATATATATAATTATATATATTTATGTATAAATATAACTTTATATA TAAATATATATAATTTTATATATATAATTTTATATATAAATATATATAAT TATATATATTATATATAAATATATATAATTTTATATATAATATATATAAT TTTATATATTTATATATAAATATATATATAATTTATATATAAATATATAA AATTATATATAAATATATATAATTTATATATAAATATATATAATTTATAT ATAAATATGTATAATTTTATATATATAAATAGATATAATTTTATATATTT ATTTATATAAATTTTATATATTTATATAAATATATATTTATATATAAAAA TTTATATACAAATATATATAAATATATACAAATATATATATAAATTTATA TAAAT	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	4/24			chr3	TogoVar
COL21A1_chr6_56051590_56252580	56098080	A A	AATAAATA others(626): Show AATAAATATATATAAATATATATAAATATAAATATATATATAAATATGTA ATTCTAAATATATATGTAAATATATATAAATATAAATATATTTATAAATA TATAAATATATATATATTTATAAATATATAAATATATATATATTTATAAA TATATAAATATATATAAAAATATATATAAATATATAAAAAATATAAATAT ATATAAATATATAAATATATGTAAATATATATAAATATATATATAAATAT ATATATAAATATATATATAAATATATATATAAATATATATATATAAATAT ATATAAATATATAACTATATAAATAAATATATATAAATATATAAATATAT AAAAATATATATAAATATATATGTAAATATATAAATATATATAAATATAT ATAAATATATATAAGTATATAAATATATATAAATATATATAAGTATATAA ATATATATATAAATATATATAAGTATATAAATATATATATAAATATATAT AAGTATATAAATATATATAAATATATATAAGTATATAAATATATATATAA ATATATATAAGTATATATAAATATATATAAATATATATAAGTATATATAA ATATATAAAAATATATATAAGTATATATAAATAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG03490.hp2 HG03492.hp1 others(2): Show HG00642.hp2 HG03490.hp2 HG03492.hp1 HG03654.hp2 HG06807.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0011c0021 a0001c0001 a0011c0021	a0001c0001t0001 a0011c0021t0020 a0001c0001t0001 a0011c0021t0020	a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0242 others(2): Show a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0242 a0001c0001t0001g0255 a0011c0021t0020g0095	5	264	0.0189	633	c.181 others(652): Show c.1812+3391_1812+3392insATATTTATATATACTTATATATATTT TTATATATTTATATATACTTATATATATTTATATATATTTATATATACTT ATATATATTTATATATATATTTATATACTTATATATATTTATATATATTT ATATACTTATATATATTTATATATATATTTATATACTTATATATATTTAT ATATATATTTATATACTTATATATATTTATATATATTTATATACTTATAT ATATTTATATATATTTATATATATTTATATATTTACATATATATTTATAT ATATTTTTATATATTTATATATTTATATATATTTATTTATATAGTTATAT ATTTATATATATTTATATATATATATTTATATATATATTTATATATATAT TTATATATATATTTATATATATATTTATATATATTTACATATATTTATAT ATTTATATATATTTATATTTTTTATATATTTATATATATTTTTATATATA TTTATATATTTATAAATATATATATATTTATATATTTATAAATATATATA TATTTATATATTTATAAATATATTTATATTTATATATATTTACATATATA TTTAGAATTACATATTTATATATATATTTATATTTATATATATTTATATA TATTTAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COPG2_chr7_130501238_130673748	130591387	A A	AAGGAGGT others(626): Show AAGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCACCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCTCTACTGGGAAGAGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGGTCAGCCC CCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGAGGTCAGCCCC CCGCCCAGCCAGCTGCCCCGTCCGGGAAGGAGGTGGGGGGGGTCAGCACC CCGCCTGGCCAGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCTCTACTGGGAAGAGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCTGCCCTGTC TGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGACAGCCGCCCTGTCCGGGAG	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0199 a0001c0001t0002g0199	1	326	0.0031	633	c.737 others(652): Show c.737+19565_737+19566insCTCCCGGACAGGGCGGCTGTCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTC ACCTCCCAGACAGGGCAGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCTCTTCCCAG TAGAGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGG CCAGGCGGGGTGCTGACCCCCCCCACCTCCTTCCCGGACGGGGCAGCTGG CTGGGCGGGGGGCTGACCTCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGTGGGGGGCTGACCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCTCTTCCCAGTAGAGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGCTGACCCCCCC ACCTCCT	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	9/23			chr7	TogoVar
COPG2_chr7_130501238_130673748	130591387	A A	AAGGAGGT others(626): Show AAGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCACCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCTCTACTGGGAAGAGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCC CCACCCGGCCAGCCGCCCCCGTCCGGGAGGGAGGTGGGGAGGTCAGCCCC CCGCCCGGCCAGCTGCCCCGTCCGGGAAGGAGGTGGGGGGGGTCAGCACC CCGCCTGGCCAGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCTCTACTGGGAAGAGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCTGCCCTGTC CGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGACAGCCGCCCTGTCCGGGAG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0057 a0001c0002t0001g0057	1	326	0.0031	633	c.737 others(652): Show c.737+19565_737+19566insCTCCCGGACAGGGCGGCTGTCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTC ACCTCCCGGACAGGGCAGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCTCTTCCCAG TAGAGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGG CCAGGCGGGGTGCTGACCCCCCCCACCTCCTTCCCGGACGGGGCAGCTGG CCGGGCGGGGGGCTGACCTCCCCACCTCCCTCCCGGACGGGGGCGGCTGG CCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCTCTTCCCAGTAGAGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGCTGACCCCCCC ACCTCCT	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	9/23			chr7	TogoVar
COPG2_chr7_130501238_130673748	130591387	A A	AAGGAGGT others(626): Show AAGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCACCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCTCTACTGGGAAGAGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCC CCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGAGGTCAGCCCCC CGCCCGGCCAGCTGCCCCGTCCGGGAAGGAGGTGGGGGGGGTCAGCACCC CGCCTGGCCAGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCTCTACTGGGAAGAGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCTGCCCTGTC CGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGACAGCCGCCCTGTCCGGGAG	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0043 a0001c0002t0001g0043	1	326	0.0031	633	c.737 others(652): Show c.737+19565_737+19566insCTCCCGGACAGGGCGGCTGTCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTC ACCTCCCGGACAGGGCAGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCTCTTCCCA GTAGAGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTG GCCAGGCGGGGTGCTGACCCCCCCCACCTCCTTCCCGGACGGGGCAGCTG GCCGGGCGGGGGGCTGACCTCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCTCTTCCCAGTAGAGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGCTGACCCCCCC ACCTCCT	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	9/23			chr7	TogoVar
CTSD_chr11_1747755_1768927	1754499	T T	TGGGGATG others(626): Show TGGGGATGGAGGGATGGAGGGATGGAGGGGATGTGGGGATGGAGGGATGG AGGGATGGAGGGGATGGAGGGATGGAGGGGATGGAGGGATGGAGGGGATG GAGGGATGGAGGAGATGGAGGGTCATGAAGAGTCACAGAGGGATGAGGGG ATGGAGGGATGGAGGGATGGAGGGGATGGAGGGATGGAGGGGATGGAGGG ATGGAGGGGATGGAGGGATGGAGGGATGGAGGGGATGGAGGGATGGAGGG ATGGAGGGATGGAGGGGATGGAGGGATGGAGGGATAGACAGATGGAGGGG ATGGAGGGTCATGGAGAGTCACAGAGGGATGTGGGGATGGAGGGATGGAG GGGATGGAGGGATGGAGGGGATGGAGGGATGGAGGAGATGGAGGGTCATG AAGAGTCACAGAGGGATGAGGGGATGGAGGGATGGAGGGATGGAGGGGAT GGAGGGGATGGAGGGGCATAGAGGGATGGAGGGGATGGAGGGGATGAAGG GATGGAGGGGCATGGAGGGATGGAGGGATGGAGGGATAGACAGATGGAGG GGATGGAGGGTCATGGAGAGTCACAGAGGGATGTGGGGATGGAGGGATGG AGGGATGGAGGGGATGGAGGGATGGAGGGATGGA	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	386	0.0026	633	c.828 others(648): Show c.828-362_828-361insTCCATCCCTCCATCCCTCCATCCCCTCCAT CCCTCCATCCCTCCATCCCCACATCCCTCTGTGACTCTCCATGACCCTCC ATCCCCTCCATCTGTCTATCCCTCCATCCCTCCATCCCTCCATGCCCCTC CATCCCTTCATCCCCTCCATCCCCTCCATCCCTCTATGCCCCTCCATCCC CTCCATCCCCTCCATCCCTCCATCCCTCCATCCCCTCATCCCTCTGTGAC TCTTCATGACCCTCCATCTCCTCCATCCCTCCATCCCCTCCATCCCTCCA TCCCCTCCATCCCTCCATCCCCACATCCCTCTGTGACTCTCCATGACCCT CCATCCCCTCCATCTGTCTATCCCTCCATCCCTCCATCCCCTCCATCCCT CCATCCCTCCATCCCTCCATCCCCTCCATCCCTCCATCCCTCCATCCCCT CCATCCCTCCATCCCCTCCATCCCTCCATCCCCTCCATCCCTCCATCCCT CCATCCCCTCATCCCTCTGTGACTCTTCATGACCCTCCATCTCCTCCATC CCTCCATCCCCTCCATCCCTCCATCCCCTCCATCCCTCCATCCCCTCCAT CCCTCCATCCCTCCATCCCCACATCCCCTCCATCCCTCCATCCCTCCATC CCC	CTSD	ENSG00000117984.15	transcript	ENST00000236671.7	protein_coding	6/8			chr11	TogoVar
DEAF1_chr11_639233_700222	642838	C C	CCAGGCGG others(626): Show CCAGGCGGGGTGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGTCAGAG GAAGGGCCAGGCGGGGTGAGGGTCACAGGAAGAGCCAGGCGGGGTGAGGG TCAGAGGAAGGGCCAGGCGGGGTGAGGGTCACAGGAAGAGCCAGGCGGGC TGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGTCACAGGAAGGGCCAG GCGGGCTGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGTCAGAGGAAG GGCCAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCAC AGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGGCTGAGGGTCAGAGGAA GGGCCAGGCGGGGTGAGGGGCAGAGGAAGGGCCAGGCGGGGTGAGGGGCA GAGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGCTGAGGGTCAGAGGAA GGGCCAGGCGGGGTGAGGGTCAGGCGGGGTGAGGGGCAGGCGGGCTGAGG GTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCAGGCGGGGTGAGGGGCAGG CGGGCTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGGT GAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0144 a0001c0003t0001g0144	1	345	0.0029	633	c.17 others(644): Show c.1711_*1712insCCCCTCACCCCGCCTGGCCCTTCCTCTGACCCTC ACCCCGCCTGCCCCTCACCCCGCCTGGCCCTTCCTCTGACCCTCAGCCCG CCTGCCCCTCACCCCGCCTGACCCTCACCCCGCCTGGCCCTTCCTCTGAC CCTCAGCCCGCCTGCCCCTCACCCCGCCTGACCCTCACCCCGCCTGGCCC TTCCTCTGACCCTCAGCCCGCCTGCCCCTCACCCCGCCTGGCCCTTCCTC TGCCCCTCACCCCGCCTGGCCCTTCCTCTGCCCCTCACCCCGCCTGGCCC TTCCTCTGACCCTCAGCCCCGCCTGCCCCTCACCCCGCCTGGCCCTTCCT GTGACCCTCACCCCGCCTGGCCCTTCCTCTGACCCTCACCCCGCCTGGCC CTTCCTCTGACCCTCACCCCGCCTGGCCCTTCCTGTGACCCTCAGCCCGC CTGGCCCTTCCTGTGACCCTCACCCCGCCTGGCCCTTCCTGTGACCCTCA GCCCGCCTGGCTCTTCCTGTGACCCTCACCCCGCCTGGCCCTTCCTCTGA CCCTCACCCCGCCTGGCTCTTCCTGTGACCCTCACCCCGCCTGGCCCTTC CTCTGACCCTCACCCCGCCTGGCCCTTCCTGTGACCCTCACCCCGCCTG	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding		1394		chr11	TogoVar
DECR2_chr16_396885_417482	397707	T T	TGTGGGGG others(626): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGT GAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGG GGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG GGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	367	0.0027	633	c.-42 others(644): Show c.-4257_-4256insGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4177		chr16	TogoVar
DPEP1_chr16_89608642_89643433	89619246	C C	CCCCCCCT others(626): Show CCCCCCCTGCTCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCT GCAGCCCCCTGCCCCCCCTGCTCCCTCCCTGCAGCCCCCTGCCCCCCCGC TCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCA TGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCT GCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGC TCCCCTCCCTGCAGCCCCCTGCTCCCCCGCTCCCCTCCCTGCAGCCCCCT GCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCC TGCAGCCCCCTGCTCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCT GCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCC CTGCTCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTC CCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCC TGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCC CCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCATG	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	250	0.0040	633	c.-10 others(652): Show c.-107+5533_-107+5534insTGCTCCCTCCCTGCAGCCCCCTGCCC CCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCTCCCTGCA GCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTC CCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCC CCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGC AGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCTCCCCCGCTCC CCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGC CCCCCCGCTCCCCTCCCTGCAGCCCCCTGCTCCCCCGCTCCCCTCCCTGC AGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCT CCCCTCCCTGCAGCCCCCTGCTCCCCCGCTCCCCTCCCTGCAGCCCCCTG CCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCT GCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGC TCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCAT GCCCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DRD4_chr11_632269_645706	642838	C C	CCAGGCGG others(626): Show CCAGGCGGGGTGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGTCAGAG GAAGGGCCAGGCGGGGTGAGGGTCACAGGAAGAGCCAGGCGGGGTGAGGG TCAGAGGAAGGGCCAGGCGGGGTGAGGGTCACAGGAAGAGCCAGGCGGGC TGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGTCACAGGAAGGGCCAG GCGGGCTGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGTCAGAGGAAG GGCCAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCAC AGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGGCTGAGGGTCAGAGGAA GGGCCAGGCGGGGTGAGGGGCAGAGGAAGGGCCAGGCGGGGTGAGGGGCA GAGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGCTGAGGGTCAGAGGAA GGGCCAGGCGGGGTGAGGGTCAGGCGGGGTGAGGGGCAGGCGGGCTGAGG GTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCAGGCGGGGTGAGGGGCAGG CGGGCTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGGT GAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0000 a0000	a0000c0007 a0000c0007	a0000c0007t0001 a0000c0007t0001	a0000c0007t0001g0005 a0000c0007t0001g0005	1	421	0.0024	633	c.22 others(644): Show c.2235_*2236insCAGGCGGGGTGAGGGTCACAGGAAGGGCCAGGCG GGGTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCACAGGAAGAGC CAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCACAGG AAGAGCCAGGCGGGCTGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGT CACAGGAAGGGCCAGGCGGGCTGAGGGTCACAGGAAGGGCCAGGCGGGGT GAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGG CGGGGTGAGGGTCACAGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGGC TGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGGCAGAGGAAGGGCCAG GCGGGGTGAGGGGCAGAGGAAGGGCCAGGCGGGGTGAGGGGCAGGCGGGC TGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCAGGCGGGGTGAGGG GCAGGCGGGCTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGTCAGGC GGGGTGAGGGGCAGGCGGGCTGAGGGTCAGAGGAAGGGCCAGGCGGGGTG AGGGGCAGGCGGGGTGAGGGTCAGAGGAAGGGCCAGGCGGGGTGAGGGG	DRD4	ENSG00000069696.7	transcript	ENST00000176183.6	protein_coding		2133		chr11	TogoVar
DUS3L_chr19_5780140_5796163	5787204	G G	GGTGGGAG others(626): Show GGTGGGAGGTCGTGGGAGATGGTGGGAGGTCGTGGGAGATGGTGGGAGGT AGTGGGAGACAGTGGCAGACAGTGGGAGGTGGTGGGAGATGGTGGCAGAC GGTGGGAGGTGGTGGGAGACAGTGGGAAGTGGTGGGAGGTGGTGGGAGAC GGTGGGAGGTGGTAGGAGACGGTGGGAGGTGGTGGGAGACACTCGGAGAC GGTGGGATGTGGTGGGAGGTAGTGGGAGACATTGGCAGACGGTGGGAGGT GGTGGGAGATGGTGAGAGGTGGTGGGAGACGGCGGGAGGTGGTGGGAGAT GGCGGGAGGTGGTGGGAGACGGTGGGAGGTGGTGGGAGGTGGTGGGAGAC GGAGAAGGTGGGATGTGGTGGGAGGTAGTGGGAGACACTGGCAGATGGTG GGAGGTCGTGGGAGATGGTGGGAGGTGGTGGGAGACGGTGGGAGATGGTG GGAGGTGGTGGGAGACGGCGGGAGGTGGTGGGAGATGGCGGGAGGTGGTG GGAAGTGGTGGGAGACGGAGATGGTGGGAGACGGTGGGAGACGGCGGGAG GTGGAGGGAGGCGGCGGGAGATGGCGGGAGGTGGCAGGAGACGCTGGGAG GGTGGCAGGAGACGGTGGGAGGTGGTGGGAGACA	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0051 a0002c0001t0002g0051	1	364	0.0028	633	c.127 others(648): Show c.1279-34_1279-33insTGTCTCCCACCACCTCCCACCGTCTCCTGC CACCCTCCCAGCGTCTCCTGCCACCTCCCGCCATCTCCCGCCGCCTCCCT CCACCTCCCGCCGTCTCCCACCGTCTCCCACCATCTCCGTCTCCCACCAC TTCCCACCACCTCCCGCCATCTCCCACCACCTCCCGCCGTCTCCCACCAC CTCCCACCATCTCCCACCGTCTCCCACCACCTCCCACCATCTCCCACGAC CTCCCACCATCTGCCAGTGTCTCCCACTACCTCCCACCACATCCCACCTT CTCCGTCTCCCACCACCTCCCACCACCTCCCACCGTCTCCCACCACCTCC CGCCATCTCCCACCACCTCCCGCCGTCTCCCACCACCTCTCACCATCTCC CACCACCTCCCACCGTCTGCCAATGTCTCCCACTACCTCCCACCACATCC CACCGTCTCCGAGTGTCTCCCACCACCTCCCACCGTCTCCTACCACCTCC CACCGTCTCCCACCACCTCCCACCACTTCCCACTGTCTCCCACCACCTCC CACCGTCTGCCACCATCTCCCACCACCTCCCACTGTCTGCCACTGTCTCC CACTACCTCCCACCATCTCCCACGACCTCCCACCATCTCCCACGACCTCC CAC	DUS3L	ENSG00000141994.16	transcript	ENST00000309061.12	protein_coding	7/12			chr19	TogoVar
EHMT1_chr9_137614005_137841127	137716477	T T	TTGGTGTC others(626): Show TTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGGAG GAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGG GGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGGGAGGAAGTTGTGGTGG TGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGT TGTGGTGGTGTCATGGTGGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGA GGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATG GTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGGAGGAAGTTGTGGT GTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGGAGGAAGT TGTGGTGGTGTCATGGTGGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGG GGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATG GTGGGGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTG GTGTCATGGTGGGGAGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGA AGTTGTGTCATGGTGGGGGGGGAGGAAGTTGTGG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0059 a0001c0003t0001g0059	1	170	0.0059	633	c.86- others(646): Show c.86-103_86-102insGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAA GTTGTGGTGGTGTCATGGTGGGGGGAGGAAGTTGTGGTGGTGTCATGGTG GGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGG TGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGGAGGAAG TTGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGA GGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATG GTGGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGT GTCATGGTGGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGGAGGAAG TTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGG GGAGGAAGTTGTGGTGTCATGGTGGGGGGGGAGGAAGTTGTGTTGGTGTC ATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGAGGAGGAAGTTGTGG TGGTGTCATGGTGGGGGAGGAAGTTGTGTCATGGTGGGGGGGGAGGAAGT TGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGG G	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
GALNT9_chr12_132191372_132334589	132241229	C C	CTCCCTAT others(626): Show CTCCCTATACCCATTTACACACACGCCACGCCCCGTTCGCGGGGCCCTCC CTATACCCATTACACACACGCCACACCCCCTTCCCGGGGCCCTCCCTATA CCCATTACACACACACCACACACCCTTCCAGGGGCCCTCCCTATACCCAT TACACACACGCCACACACCCTTCCAGGGGCCCTCCCTATACCCATTACAC ACACGCCACACACCCTTCCCAGAGCCGTCCCTATACCCATTACACACACG CCACACACCCTTCCCGGGGCCATCCCTATACCCATTACACACACGCCACA CACCCTTCCCGGGGCCATCCCTATACCCATTACACACACGCCACACACCC TTCCCAGGGCCGTCCCTATACCCATTACACACACAACACACACCCTTCCA GGGGCCCTCCCTATACCCATTACACACACGCCACACCCCCTTCCCGGGGG GCCCTCCCTATACCCATTACACACACGCCACACCCCCTTCCCGGGGCCCT CCCTATACCCATTACACACACGCCACGGACCCTTCCCAGGGCCGTCCCTA TACCCATTACACACACAACACACACCCTTCCCGGGGCCATCCCTATACCC ATTACACACACACCACACACCCTTCCCAGGGCCG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0047 a0001c0018t0001g0047	1	183	0.0055	633	c.107 others(652): Show c.1077+6680_1077+6681insCGGCCCTGGGAAGGGTGTGTGGTGTG TGTGTAATGGGTATAGGGATGGCCCCGGGAAGGGTGTGTGTTGTGTGTGT AATGGGTATAGGGACGGCCCTGGGAAGGGTCCGTGGCGTGTGTGTAATGG GTATAGGGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATA GGGAGGGCCCCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGG AGGGCCCCTGGAAGGGTGTGTGTTGTGTGTGTAATGGGTATAGGGACGGC CCTGGGAAGGGTGTGTGGCGTGTGTGTAATGGGTATAGGGATGGCCCCGG GAAGGGTGTGTGGCGTGTGTGTAATGGGTATAGGGATGGCCCCGGGAAGG GTGTGTGGCGTGTGTGTAATGGGTATAGGGACGGCTCTGGGAAGGGTGTG TGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCTGGAAGGGTGTGTGGCG TGTGTGTAATGGGTATAGGGAGGGCCCCTGGAAGGGTGTGTGGTGTGTGT GTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAAT GGGTATAGGGAGGGCCCCGCGAACGGGGCGTGGCGTGTGTGTAAATGGGT ATAGGGA	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
HS3ST6_chr16_1906475_1923415	1920291	C C	CAATCTCA others(626): Show CAATCTCAGCTGTCCCCACGGTCTCAGGAGTCCCCACAGTCTCAGCTATC CCCATGGTCTCAGCCATCCCCGTGGTCTCAGCAGTCCCCATGGTCTCAGG AGTCCCCACGGTCTCAGCCGTCCCCACGGTCTCAGCAGTCCCCACGGTCT CAGCCGTCCCCACGGTCTCAGGAGTCCCCACGGACTCAGCCGTCCCCAGG GTCTCAAGCCATCCCCAGGGTCTCAGCCGTCCCCACGGTCCCAGCCGTCC CCACCGTCTCAGCAGTCCCCACGGTCTCAGCCGTCCCCATGGTCTCAGCA GTCCCCACGGTCTCAGGAGTCCCCCACGGTCTCAGCAGTCCCCCACGGTC TCAGCCGTCCCCACCGTCTCAGGAGTCCCCACCATCTCAGCCGTCCCCAC GGTCTCAGGAGTCCCCATGGTCTCAACCGTCTCCACGGTCTCAGGAGTCC CCACGGTCTCAGGAGCCCCCACGGTCTCAGGAGCCCCCACGGTCTCAGTC ATCCCCACGGTCCCAGCCGTCCCCACGGTCCAAGCCGTCCCCACGGTCCC AGCCGTCCCCACGGTCTCAGCCGTCCCCACGGTCTCCGCAGTCCCCACGG TCTCAGCCATCCCCACGGTCTCAGGAGTCCCCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0052 a0003c0003t0001g0052	1	433	0.0023	633	c.-19 others(644): Show c.-1969_-1968insATGGGGACTCCTGAGACCGTGGGGATGGCTGAGA CCGTGGGGACTGCGGAGACCGTGGGGACGGCTGAGACCGTGGGGACGGCT GGGACCGTGGGGACGGCTTGGACCGTGGGGACGGCTGGGACCGTGGGGAT GACTGAGACCGTGGGGGCTCCTGAGACCGTGGGGGCTCCTGAGACCGTGG GGACTCCTGAGACCGTGGAGACGGTTGAGACCATGGGGACTCCTGAGACC GTGGGGACGGCTGAGATGGTGGGGACTCCTGAGACGGTGGGGACGGCTGA GACCGTGGGGGACTGCTGAGACCGTGGGGGACTCCTGAGACCGTGGGGAC TGCTGAGACCATGGGGACGGCTGAGACCGTGGGGACTGCTGAGACGGTGG GGACGGCTGGGACCGTGGGGACGGCTGAGACCCTGGGGATGGCTTGAGAC CCTGGGGACGGCTGAGTCCGTGGGGACTCCTGAGACCGTGGGGACGGCTG AGACCGTGGGGACTGCTGAGACCGTGGGGACGGCTGAGACCGTGGGGACT CCTGAGACCATGGGGACTGCTGAGACCACGGGGATGGCTGAGACCATGGG GATAGCTGAGACTGTGGGGACTCCTGAGACCGTGGGGACAGCTGAGATT	HS3ST6	ENSG00000162040.7	transcript	ENST00000454677.3	protein_coding		1877		chr16	TogoVar
ICA1_chr7_8108184_8267167	8152587	C C	CCACCACT others(626): Show CCACCACTACCCCCAGCACTACCACCATCACCTCTTCCACCACTACCACC ATCTCCTCCACCACCACTACCACCACCACCACCATTATCTCCTTCATCAC CACTACCCCCACCACTACCACCATCACCTCCTCCACCATCACCACCACCA CCACAACCACCATCTCCTTCATCACCACTACCCCCACCACTACCACCATC ACCTCCTCCACCATCACCACCACCACCACAACCACCATCTCCTTCATCAC CACTACCCCCACCACTATCACCATCACCATCACCTCCACCACCACCACCA TCTCCTTCATCACCACTACCCCCACCACTATCACCATCACCATCACCTCC ACCACCACCACCATCTCCTTCAACACCACTACCCCCAGCACTACCACCAT CACCTCTTCCACCACTACCACCATCTCCTTCATCACCACTACCCCCACCA CTACCACCATCACCTCCTCCACCATCACCACCACCACCACAACCACCATC TCCTTCATCACCACTACCCCCACCACTACCACCATCACCATCACCTCCAC CACCACCACCATCTCCTTCATCACCACTACCCCCACCACTATCACCATCA CCATCACCTCCACCACCACCACCATCTCCTTCAA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02630.hp1 HG01346.hp2 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0007 a0001c0002t0005g0129 a0001c0002t0005g0007 a0001c0002t0005g0129	2	274	0.0073	633	c.804 others(650): Show c.804+4528_804+4529insTTGAAGGAGATGGTGGTGGTGGTGGAGG TGATGGTGATGGTGATAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTG GTGGTGGTGGAGGTGATGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGAT GAAGGAGATGGTGGTTGTGGTGGTGGTGGTGATGGTGGAGGAGGTGATGG TGGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTGGTAGTGGTGGAA GAGGTGATGGTGGTAGTGCTGGGGGTAGTGGTGTTGAAGGAGATGGTGGT GGTGGTGGAGGTGATGGTGATGGTGATAGTGGTGGGGGTAGTGGTGATGA AGGAGATGGTGGTGGTGGTGGAGGTGATGGTGATGGTGATAGTGGTGGGG GTAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGGTGGTGATGGTGGA GGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTGG TTGTGGTGGTGGTGGTGATGGTGGAGGAGGTGATGGTGGTAGTGGTGGGG GTAGTGGTGATGAAGGAGATAATGGTGGTGGTGGTGGTAGTGGTGGTGGA GGAGATGGTGGTAGTGGTGGAAGAGGTGATGGTGGTAGTGCTGGGGGTAG TGGTG	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
IFITM10_chr11_1727406_1755595	1754499	T T	TGGGGATG others(626): Show TGGGGATGGAGGGATGGAGGGATGGAGGGGATGTGGGGATGGAGGGATGG AGGGATGGAGGGGATGGAGGGATGGAGGGGATGGAGGGATGGAGGGGATG GAGGGATGGAGGAGATGGAGGGTCATGAAGAGTCACAGAGGGATGAGGGG ATGGAGGGATGGAGGGATGGAGGGGATGGAGGGATGGAGGGGATGGAGGG ATGGAGGGGATGGAGGGATGGAGGGATGGAGGGGATGGAGGGATGGAGGG ATGGAGGGATGGAGGGGATGGAGGGATGGAGGGATAGACAGATGGAGGGG ATGGAGGGTCATGGAGAGTCACAGAGGGATGTGGGGATGGAGGGATGGAG GGGATGGAGGGATGGAGGGGATGGAGGGATGGAGGAGATGGAGGGTCATG AAGAGTCACAGAGGGATGAGGGGATGGAGGGATGGAGGGATGGAGGGGAT GGAGGGGATGGAGGGGCATAGAGGGATGGAGGGGATGGAGGGGATGAAGG GATGGAGGGGCATGGAGGGATGGAGGGATGGAGGGATAGACAGATGGAGG GGATGGAGGGTCATGGAGAGTCACAGAGGGATGTGGGGATGGAGGGATGG AGGGATGGAGGGGATGGAGGGATGGAGGGATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0178 a0001c0008t0002g0178	1	406	0.0025	633	c.-40 others(644): Show c.-4058_-4057insTCCATCCCTCCATCCCTCCATCCCCTCCATCCCT CCATCCCTCCATCCCCACATCCCTCTGTGACTCTCCATGACCCTCCATCC CCTCCATCTGTCTATCCCTCCATCCCTCCATCCCTCCATGCCCCTCCATC CCTTCATCCCCTCCATCCCCTCCATCCCTCTATGCCCCTCCATCCCCTCC ATCCCCTCCATCCCTCCATCCCTCCATCCCCTCATCCCTCTGTGACTCTT CATGACCCTCCATCTCCTCCATCCCTCCATCCCCTCCATCCCTCCATCCC CTCCATCCCTCCATCCCCACATCCCTCTGTGACTCTCCATGACCCTCCAT CCCCTCCATCTGTCTATCCCTCCATCCCTCCATCCCCTCCATCCCTCCAT CCCTCCATCCCTCCATCCCCTCCATCCCTCCATCCCTCCATCCCCTCCAT CCCTCCATCCCCTCCATCCCTCCATCCCCTCCATCCCTCCATCCCTCCAT CCCCTCATCCCTCTGTGACTCTTCATGACCCTCCATCTCCTCCATCCCTC CATCCCCTCCATCCCTCCATCCCCTCCATCCCTCCATCCCCTCCATCCCT CCATCCCTCCATCCCCACATCCCCTCCATCCCTCCATCCCTCCATCCCC	IFITM10	ENSG00000244242.2	transcript	ENST00000340134.5	protein_coding		3905		chr11	TogoVar
IFNAR1_chr21_33319970_33364864	33323156	A A	ACGTATGG others(626): Show ACGTATGGAATATATATATGGAATATATACGTATGGAATATATATATGGA ATATATACGTATGGAATATATATATATGGAATATATACGTATGGAATATA TATATATGGAATATACGTATGGAATATATATATATGGAATATACGTATGG AATATATATATATGGAATATATATGTATGGAATATATATATGGAATATAT ATGTATGGAATATATATATGGAATATATATGTATGGAATATATGTATGGA ATATATATGTATGGAATATATATGTATGGAATATATATGTATGGAATATA TATATGGAATATATATGTATGGAATATATATATGGAATATATATGTATGG AATATATATATGGAATATATATATGGAATATATATGTATGGAATATATAT ATGGAATATATATGTATGGAATATACATATGGAATATATATGTTTGGAAT ATATATATATGGAATATATATGTATGGAATATATATATATGGAATATATG TATGGAATATATATATGGAATATATGTATGGAATATATATATATGGAATA TATGTATGGAATATATATATATGGAATATATGTATGGAATATATATATGG AATATATGTATGGAATATATATATGGAATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0232 a0002c0002t0002g0232	1	323	0.0031	633	c.-19 others(644): Show c.-1900_-1899insCGTATGGAATATATATATGGAATATATACGTATG GAATATATATATGGAATATATACGTATGGAATATATATATATGGAATATA TACGTATGGAATATATATATATGGAATATACGTATGGAATATATATATAT GGAATATACGTATGGAATATATATATATGGAATATATATGTATGGAATAT ATATATGGAATATATATGTATGGAATATATATATGGAATATATATGTATG GAATATATGTATGGAATATATATGTATGGAATATATATGTATGGAATATA TATGTATGGAATATATATATGGAATATATATGTATGGAATATATATATGG AATATATATGTATGGAATATATATATGGAATATATATATGGAATATATAT GTATGGAATATATATATGGAATATATATGTATGGAATATACATATGGAAT ATATATGTTTGGAATATATATATATGGAATATATATGTATGGAATATATA TATATGGAATATATGTATGGAATATATATATGGAATATATGTATGGAATA TATATATATGGAATATATGTATGGAATATATATATATGGAATATATGTAT GGAATATATATATGGAATATATGTATGGAATATATATATGGAATATATG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1813		chr21	TogoVar
INPP5A_chr10_132532787_132788480	132775188	G G	GGGGCAGG others(626): Show GGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGGGC AGGGAGGAGGGACAGGGAGGAGAGAGGGGCAGGGGGGAGGGGCAGGGAGG AGAGACAGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGA GAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGC AGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGG GAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGA GAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAG GGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGG CAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAG GAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGC AGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGG ACGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCA GGGAGGAGAGAGGGGCAAGGAGGAGGGGCAGGGA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0070	1	204	0.0049	633	c.978 others(650): Show c.978-2481_978-2480insGCAGGGAGGAGAGAGGGGCAGGGAGGAG GGGCAGGGAGGAGGGGGGCAGGGAGGAGGGACAGGGAGGAGAGAGGGGCA GGGGGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGAGGGGCAGGGAGGA GAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAG AGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGG GGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGA GAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAG ATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGG GGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGC AGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAG AGGGGCAGGGAGGACGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGA GGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGAGA GGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAAGGAGGAGGGGCAG GGAGG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
KIAA1958_chr9_112481827_112674397	112514853	G G	GGGGGGGT others(626): Show GGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAG GGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCC CAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGTCAGCCCCCCGCTCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCC CCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0031 a0001c0001t0015g0031	1	308	0.0033	633	c.-25 others(652): Show c.-25+27741_-25+27742insTCGGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGC CCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAG TGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGGTCAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCG CCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCC AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCTCGGCCA GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCGGCCCCCCTGCCCGGCC AGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACT GGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGG	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
KIF25_chr6_167992671_168050091	167997483	G G	GGGGGCGG others(626): Show GGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATG GGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGG GTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGG CGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCG GGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGG GGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGG GAATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGA ATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAAT CTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAA TGTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAAT CTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCT GCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATG TGCAGAGATGGGGGGCGGGGGAATCTGCAGAGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG03654.hp1 HG02257.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0312 a0001c0001t0002g0313	2	375	0.0053	633	c.-19 others(644): Show c.-1986_-1985insGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGG GAATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGA ATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAAT CTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCT GCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGC AGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCA GAGATGGGGGCGGGGGAATCTGCAGAGATGGGGTCGGGGGAATCTGCAGA GATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGA TGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGAT GGGGGGTCGGGGGAATGTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGG TGGGGGCGGGGGAATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATG GGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGG GGGGTCGGGGGAATGTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGGT	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		187		chr6	TogoVar
LY75_chr2_159798355_159909756	159874319	G G	GTTTTGTA others(626): Show GTTTTGTAAATATATATAAATATATATATGTTTTGTAAATATATATAAAT ATATATGTTTTGTAAATATATATAAATATATATGTTTTGTAAATATATAT AAATATATATGTTTTGTAAATATATATAAATATATATATGTTTTGTAAAT ATATAAATATATATTTTGTAAATATATATATATTTTGTAAATATATATTG TAAATATATATAAATATATATTTTGTGAATTATATATATATTGTAAATTA TATATATATTTTGTAAATATATATAGTAAATATATATATTTTGTAAATAT GTATATATATTTTGTAAATATATATATTTTGTAAATATGTATATATATTT TGTAAATATATACATTTTGTAAATATATAAATATATACATTTTGTAAATA TATAAAAATATATACATTTTGTAAATATATAAAAATATATGTTGTAAATA TATAAAAATATATATATTTTGTAAATATATAAATATATATATTTTGTAAA TATATATAAATATATACATATTTTGTAAATATATAAATATATACATATTT TGTAAATCTATATAAATATATACATATTTTGTAAATCTATATAAATATAT ACATATTTTGTAAATCTATATAAATATATACATA	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0030 a0030	a0030c0035 a0030c0035	a0030c0035t0002 a0030c0035t0002	a0030c0035t0002g0030 a0030c0035t0002g0030	1	330	0.0030	633	c.197 others(652): Show c.1974+1124_1974+1125insTATGTATATATTTATATAGATTTACA AAATATGTATATATTTATATAGATTTACAAAATATGTATATATTTATATA GATTTACAAAATATGTATATATTTATATATTTACAAAATATGTATATATT TATATATATTTACAAAATATATATATTTATATATTTACAAAATATATATA TTTTTATATATTTACAACATATATTTTTATATATTTACAAAATGTATATA TTTTTATATATTTACAAAATGTATATATTTATATATTTACAAAATGTATA TATTTACAAAATATATATACATATTTACAAAATATATATATTTACAAAAT ATATATACATATTTACAAAATATATATATTTACTATATATATTTACAAAA TATATATATAATTTACAATATATATATAATTCACAAAATATATATTTATA TATATTTACAATATATATTTACAAAATATATATATATTTACAAAATATAT ATTTATATATTTACAAAACATATATATATTTATATATATTTACAAAACAT ATATATTTATATATATTTACAAAACATATATATTTATATATATTTACAAA ACATATATATTTATATATATTTACAAAACATATATATATTTATATATATT TACAAAA	LY75	ENSG00000054219.11	transcript	ENST00000263636.5	protein_coding	12/34			chr2	TogoVar
MPPED1_chr22_43407014_43512848	43500278	C C	CGGTGGTG others(626): Show CGGTGGTGATGGTGGTGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATG GAGGTGGTGATGGTGGTGGTGGAGGTGGTGGTGGTGATGGTGATGGAGGT GGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTAGTGGTGGTGA TGGAGGTGGTAATGGAGGTGGTGGTGGAGGTGGTGATGGAGGTGGTGATG GGGGTGGTGGTGGTGATGGTGATGGAGGTGGTAGTGGTGGTGATGGAGGT GGTAATGGAGGTGGTGGTGGAGGTGGTGATGGAGGTGGTGATGGGGGTGG TGGTGGTGATGGTGATGGAGGTGGTAGTGGTGGTGATGGAGGTGGTAATG GAGGTGGTGGGGGTGATGGTGGTGATGGTGATGGAGGTGGCAGTGATGAT GGTGGTGATGGTGATGGAGGTGGTGGTGGTGATGGTGATGGAGGTGGTAA TGGAGGTGGTGGTGGAGGTGGTGATGGAGGTGGTGATGGGGGTGGTGGTG GTGATGGTGATGGAGGTGGTAGTGGTGGTGATGGAGGTGGTAATGGAGGT GGTGGGGGTGATGGTGGTGATGGTGATGGAGGTGGCAGTGATGATGGTGG TGATGGTGATGGAGGTGGCGGTGGTGATGGTGGT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0143 a0001c0001t0009g0143	1	250	0.0040	633	c.748 others(650): Show c.748+1939_748+1940insTGGTGGTGGTGATGGGGGTGGTGGTGGT GATGGTGATGGAGGTGGTGATGGTGGTGGTGGAGGTGGTGGTGGTGATGG TGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTA GTGGTGGTGATGGAGGTGGTAATGGAGGTGGTGGTGGAGGTGGTGATGGA GGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTAGTGGTGG TGATGGAGGTGGTAATGGAGGTGGTGGTGGAGGTGGTGATGGAGGTGGTG ATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTAGTGGTGGTGATGGA GGTGGTAATGGAGGTGGTGGGGGTGATGGTGGTGATGGTGATGGAGGTGG CAGTGATGATGGTGGTGATGGTGATGGAGGTGGTGGTGGTGATGGTGATG GAGGTGGTAATGGAGGTGGTGGTGGAGGTGGTGATGGAGGTGGTGATGGG GGTGGTGGTGGTGATGGTGATGGAGGTGGTAGTGGTGGTGATGGAGGTGG TAATGGAGGTGGTGGGGGTGATGGTGGTGATGGTGATGGAGGTGGCAGTG ATGATGGTGGTGATGGTGATGGAGGTGGCGGTGGTGATGGTGGTGGTGGT GATGG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43500278	C C	CGGTGGTG others(626): Show CGGTGGTGATGGTGGTGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATG GAGGTGGTGATGGTGGTGGTGGAGGTGGTGGTGGTGATGGTGATGGAGGT GGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTAGTGGTGGTGA TGGAGGTGGTAATGGAGGTGGTGGTGGAGGTGGTGATGGAGGTGGTGATG GGGGTGGTGGTGGTGATGGTGATGGAGGTGGTAGTGGTGGTGATGGAGGT GGTAATGGAGGTGGTGGTGGAGGTGGTGATGGAGGTGGTGATGGGGGTGG TGGTGGTGATGGTGATGGAGGTGGTAGTGGTGGTGATGGAGGTGGTAATG GAGGTGGTGGGGGTGATGGTGGTGATGGTGATGGAGGTGGCAGTGATGAT GGTGGTGATGGTGATGGAGGTGGTGGTGGTGATGGTGATGGAGGTGGTAA TGGAGGTGGTGGTGGAGGTGGTGATGGAGGTGGTGATGGGGGTGGTGGTG GTGATGGTGATGGAGGTGGTGGTGATGGTGATGGAGGTGGTAATGGAGGT GGTGGGGGTGATGGTGGTGATGGTGATGGAGGTGGCAGTGATGATGGTGG TGATGGTGATGGAGGTGGCGGTGGTGATGGTGGT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0057 a0001c0002t0009g0057	1	250	0.0040	633	c.748 others(650): Show c.748+1939_748+1940insTGGTGGTGGTGATGGGGGTGGTGGTGGT GATGGTGATGGAGGTGGTGATGGTGGTGGTGGAGGTGGTGGTGGTGATGG TGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTA GTGGTGGTGATGGAGGTGGTAATGGAGGTGGTGGTGGAGGTGGTGATGGA GGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTAGTGGTGG TGATGGAGGTGGTAATGGAGGTGGTGGTGGAGGTGGTGATGGAGGTGGTG ATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTAGTGGTGGTGATGGA GGTGGTAATGGAGGTGGTGGGGGTGATGGTGGTGATGGTGATGGAGGTGG CAGTGATGATGGTGGTGATGGTGATGGAGGTGGTGGTGGTGATGGTGATG GAGGTGGTAATGGAGGTGGTGGTGGAGGTGGTGATGGAGGTGGTGATGGG GGTGGTGGTGGTGATGGTGATGGAGGTGGTGGTGATGGTGATGGAGGTGG TAATGGAGGTGGTGGGGGTGATGGTGGTGATGGTGATGGAGGTGGCAGTG ATGATGGTGGTGATGGTGATGGAGGTGGCGGTGGTGATGGTGGTGGTGGT GATGG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MSLN_chr16_755734_773862	767629	A A	AGGGGCGC others(626): Show AGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGTGTG GAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGGGGTGCGT GGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGG GGCGCGTGGAGGGGGCACGTGGAGGGGTCGCGTGGAGGAGGGGCGCGTGG AGGGGGGCGCGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGGCGCG TGGGGGGGTGTGGAGGGGGGCGCGTGGGGGTGTGTGGGGGGGGCACGTGG AGGGGGGCGTGTGGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGGGC GCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAG GGGCGCGTGGAGGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGG GTGTGTGGGGGGGGCACGTGGAGGGGGGCGTGTGGGGGGGTGCGTGGAGG AGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGCGTGGGGGGCGTGG AGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGGGGGCGCG TGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGG	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	388	0.0026	633	c.159 others(650): Show c.1596+173_1596+174insGGGCCGTGTGGGGGGGCGTGGAGGAGGG GCGTGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGG GGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGT GGAGGGGGGCGCGTGGAGGGGGCACGTGGAGGGGTCGCGTGGAGGAGGGG CGCGTGGAGGGGGGCGCGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGG GGGCGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGGGTGTGTGGGGGGGG CACGTGGAGGGGGGCGTGTGGGGGGGTGCGTGGAGGAGGGGCGCGTGGAG GAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGT GGAGGAGGGGCGCGTGGAGGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCG CGTGGGGGTGTGTGGGGGGGGCACGTGGAGGGGGGCGTGTGGGGGGGTGC GTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGCGTGGGG GGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGG GGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGT GGAGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSR1_chr8_16102881_16197651	16189475	A A	ATATAAAA others(626): Show ATATAAAATCTTATTTTATATATGTTTTATATATATAAAATCTTATTTTA TATATGTTTTATATATATAAAATCTTATTTTATATATGTTTTATATATAT AAAATCTTATTTTATATATGTTTTATATATATAAAATCTTATTTTATATA TGTTTTATATATATAAAATCTTATTTTATATATGTTTTATATATATAAAA TCTTATTTTATATATGTTTTATATATATAAAATCTTATTTTATATATGTT TTATATATATAAAATCTTATTTTATATATGTTTTATATATATAAAATCTT ATTTTATATATGTTTTATATATATAAAATCTTATTTTATATATGTTTTAT ATATATAAAATCTTATTTTATATATGTTTTATATATATAAAATCTTATTT TATATATGTTTTATATATATAAAATCTTATTTTATATATGTTTTATATAT ATAAAATCTTATTTTATATATGTTTTATATATATAAAATCTTATTTTATA TATGTTTTATATATATAAAATCTTATTTTATATATGTTTTATATATATAA AATCTTATTTTATATATGTTTTATATATATAAAATCTTATTTTATATATG TTTTATATATATAAAATCTTATTTTATATATGTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	330	0.0030	633	c.-5+ others(648): Show c.-5+3122_-5+3123insAACATATATAAAATAAGATTTTATATATAT AAAACATATATAAAATAAGATTTTATATATATAAAACATATATAAAATAA GATTTTATATATATAAAACATATATAAAATAAGATTTTATATATATAAAA CATATATAAAATAAGATTTTATATATATAAAACATATATAAAATAAGATT TTATATATATAAAACATATATAAAATAAGATTTTATATATATAAAACATA TATAAAATAAGATTTTATATATATAAAACATATATAAAATAAGATTTTAT ATATATAAAACATATATAAAATAAGATTTTATATATATAAAACATATATA AAATAAGATTTTATATATATAAAACATATATAAAATAAGATTTTATATAT ATAAAACATATATAAAATAAGATTTTATATATATAAAACATATATAAAAT AAGATTTTATATATATAAAACATATATAAAATAAGATTTTATATATATAA AACATATATAAAATAAGATTTTATATATATAAAACATATATAAAATAAGA TTTTATATATATAAAACATATATAAAATAAGATTTTATATATATAAAACA TATATAAAATAAGATTTTATATATATAAAACATATATAAAATAAGATTTT ATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MTERF3_chr8_96234402_96266610	96250681	A A	AAGAAGAA others(626): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAAGAAG AGGAAGAGGAAGAAGAGGAAGAGGAAGAAGAGGAAGAGGAAGAAGAGGAA GAGGAAGAAGAGGAAGAGGAAGAAGAGGAAGAGGAAGAAGAAGAGGAAGA GGAAGAAGAAGAGGAAGAGGAAGAGGAAGAAGAAGAAGAAGAGGAAGAAG AAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAAGAAGAA GAAGAAGAAGAAGAGGAAGAAGAAGAAGAGGAAGAGGAAGAAGAGGAAGA GGAAGAAGAGGAAGAGGAAGAAGAGGAAGAGGAAGAAGAAGAGGAAGAGG AAGAAGAGGAAGAGGAAGAAGAGGAAGAGGAAGAAGAAGAGGAAGAGGAA GAAGAGGAAGAAGAGGAAGAAGAAGAGGAAGAGGAAGAAGAAGAAGAAGA GGAAGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAAGAAGAAG AAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGG	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	294	0.0034	633	c.677 others(648): Show c.677+224_677+225insCCTTCTTCTTCTTCTTCTTCTTCTTCTTCC TCTTCTTCTTCTTCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTC TTCCTCTTCTTCTTCTTCTTCCTCTTCCTCTTCTTCTTCCTCTTCTTCCT CTTCTTCCTCTTCCTCTTCTTCTTCCTCTTCCTCTTCTTCCTCTTCCTCT TCTTCCTCTTCCTCTTCTTCTTCCTCTTCCTCTTCTTCCTCTTCCTCTTC TTCCTCTTCCTCTTCTTCCTCTTCCTCTTCTTCTTCTTCCTCTTCTTCTT CTTCTTCTTCTTCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCC TCTTCTTCTTCCTCTTCTTCTTCTTCTTCCTCTTCCTCTTCCTCTTCTTC TTCCTCTTCCTCTTCTTCTTCCTCTTCCTCTTCTTCCTCTTCCTCTTCTT CCTCTTCCTCTTCTTCCTCTTCCTCTTCTTCCTCTTCCTCTTCTTCCTCT TCCTCTTCTTCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCT	MTERF3	ENSG00000156469.9	transcript	ENST00000287025.4	protein_coding	4/7			chr8	TogoVar
MUC4_chr3_195741771_195816929	195760642	G G	GAGGGGGC others(626): Show GAGGGGGCTGGGAAGGGGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGA AGGCGTCCAGCGCTAGGATGGAGTGGAGGGGCTGGGAAGGGGTCCAGCAC TAGGATGGAGTGGAGGGGCTGGGAAGGGGTCCAGCGCTAGGATGGAGTGG AGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGCTGGGAA GGCGTCCAGCGCTAGGATGGAGTGGAGGGGCTGGGAAGGCGTCCAGCGCT AGGATGGAGTGGAGGGGCTGGGAAGGCATCCAGCACTAGGATGGATGGAG GGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGG GGTCCAGCACTAGGATGGAGTGGAGGGGGCTGGGAAGGTGTCCAGCGCTA GGATGGAGTGGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGA GGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGAGGGGCTGGGAAGGC ATCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGGGTCCAGCACTAGG ATGGAGTGGAGGGGGCTGGGAAGGCGTCCAGTGCTAGGATGGAGTGGAGG GGCTGGGAAGGCGTCCAGCGCTAGTATGGAGTGA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03225.hp1 HG03041.hp1 HG03225.hp1	a0051 a0054 a0051 a0054	a0051c0139 a0054c0141 a0051c0139 a0054c0141	a0051c0139t0001 a0054c0141t0001 a0051c0139t0001 a0054c0141t0001	a0051c0139t0001g0068 a0054c0141t0001g0069 a0051c0139t0001g0068 a0054c0141t0001g0069	2	249	0.0080	633	c.148 others(652): Show c.14848+241_14848+242insTCACTCCATACTAGCGCTGGACGCCT TCCCAGCCCCTCCACTCCATCCTAGCACTGGACGCCTTCCCAGCCCCCTC CACTCCATCCTAGTGCTGGACCCCTTCCCAGCCCCCTCCATCCATCCTAG CGCTGGATGCCTTCCCAGCCCCTCCATCCATCCTAGCGCTGGACGCCTTC CCAGCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCA CTCCATCCTAGCGCTGGACACCTTCCCAGCCCCCTCCACTCCATCCTAGT GCTGGACCCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTC CCAGCCCCCTCCATCCATCCTAGTGCTGGATGCCTTCCCAGCCCCTCCAC TCCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCACTCCATCCTAGCGC TGGACGCCTTCCCAGCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCC AGCCCCCTCCACTCCATCCTAGCGCTGGACCCCTTCCCAGCCCCTCCACT CCATCCTAGTGCTGGACCCCTTCCCAGCCCCTCCACTCCATCCTAGCGCT GGACGCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACCCCTTCCCA GCCCCCT	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	16/24			chr3	TogoVar
MYO1F_chr19_8515778_8582442	8543963	G G	GTGGTGCT others(626): Show GTGGTGCTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GCTGGTGGTGCTGGTGGTGGTGGTGGTGGTGCTGGTGGTGCTGGTGGTGC TGGTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGCTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGT GGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGCTGGTGGTGC TGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGCTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGGTGGTGCTGGTGGTGCTGGTGGTGGTGGTGGTGGTGCTGGTGG TGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGCTGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGT GGTGGTGCTGGTGGTGCTGGTGGTGGTGGTGGTGGTGCTGGTGGTGCTGG TGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGCTGGTGCTG GTGCTGGTGGTGGTGCTGGTGGTGCTGGTGGTGC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0005 a0001c0008t0005	a0001c0008t0005g0157 a0001c0008t0005g0157	1	342	0.0029	633	c.152 others(650): Show c.1524+333_1524+334insGCACCACCAGCACCACCAGCACCACCAC CAGCACCAGCACCAGCACCACCACCACCACCACCACCACCACCACCACCA CCACCACCAGCACCACCAGCACCACCACCACCACCACCAGCACCACCAGC ACCACCACCACCACCACCACCACCACCAGCACCACCACCACCACCACCAC CACCACCACCACCACCACCACCAGCACCACCAGCACCACCACCACCACCA CCACCACCACCAGCACCACCACCACCACCACCAGCACCACCAGCACCACC ACCACCACCACCACCACCACCACCACCACCACCACCAGCACCACCAGCAC CACCACCACCACCACCACCACCACCACCACCACCAGCACCACCACCACCA CCACCAGCACCACCAGCACCACCACCACCACCAGCACCACCACCACCACC ACCACCACCACCACCACCACCACCACCAGCACCACCACCACCACCACCAG CACCACCACCACCACCACCACCACCACCACCACCACCACCACCAGCACCA CCACCAGCACCACCAGCACCACCAGCACCACCACCACCACCACCAGCACC ACCAGCACCACCACCACCACCACCACCACCACCACCACCACCACCACCAG CACCA	MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	14/27			chr19	TogoVar
NME4_chr16_392199_405754	397707	T T	TGTGGGGG others(626): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGT GAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGG GGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG GGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0126 a0006c0010t0001g0126	1	356	0.0028	633	c.91+ others(646): Show c.91+431_91+432insTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTG GGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTTGGGGGGT GGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG G	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NOL4L_chr20_32438059_32590333	32563163	G G	GGGTGGAG others(626): Show GGGTGGAGTGCAGGGAGGGTGGAGGGAGGGAGAGTGGGGAGGGAGGGTAG AAGGTAAGGAGGGTGGAGGGGAGGGAGGGAGAGTGGAAGGCAGGGAGGGT GGAGGGAGGGAGGGTGGGGAGGGAGGATGGAGGACAGGGAGGGTGGGGAG GGAGGGTGGAGGGAGAGTGGGGAGGGCAGGGAGGATGGAGGGAGGGAGAG TGGGGAAGGTGGAGGGGAGGGAGGGAGGAAGGCAGGGGGGGAGGGAGGGA GAGTGGGGAGGGTGGAGGGGAGGGAGGGTGGAGGGAGGGAGAGTGGGGAG GGTGGAGGGCAGGGAGGAGGGAGGAGGGGAGGGAGGGAGAGTGGGGAGGG TGGAGGGCAGGGAGGGTGGAGGGCAGGGAGGATGGAGGGAGGGAGAGTGG GGAGGGTGGAGGGCAGGGAGTGGGGAGGGAGGGACAGTGGGGAGGTTGGA GGGGAGGGAGGGTGGAGGGCAGGGAGGGTGGAGAGCAGGGAGGGTGGGGA GGGAGGGTGGAGGGAAGGAGAGTGGGGAGGGAGGGAGAGTGGAGAGGGAG GGTGGAGGGGAAGGAGGGTGGAGGGAGAGTGGGGAAGGTGGAGGGGAGGG AGGGTGGAGGGGAGGGAGGGTGGAGGGCAGGGAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02717.hp1 HG02818.hp1 others(5): Show HG02145.hp2 HG02717.hp1 HG02818.hp1 HG02896.hp1 HG03453.hp2 HG03486.hp2 HG03579.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0024 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0024 a0001c0001t0040 a0001c0001t0048 a0001c0002t0033 a0001c0005t0002	a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0003g0168 others(5): Show a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0003g0168 a0001c0001t0024g0191 a0001c0001t0040g0162 a0001c0001t0048g0013 a0001c0002t0033g0159 a0001c0005t0002g0166	8	196	0.0408	633	c.321 others(652): Show c.321+21406_321+21407insATCCCTGCCCTCCACCCTCCCTCCCC TCCACCCTCCCTCCCCTCCACCTTCCCCACTCTCCCTCCACCCTCCTTCC CCTCCACCCTCCCTCTCCACTCTCCCTCCCTCCCCACTCTCCTTCCCTCC ACCCTCCCTCCCCACCCTCCCTGCTCTCCACCCTCCCTGCCCTCCACCCT CCCTCCCCTCCAACCTCCCCACTGTCCCTCCCTCCCCACTCCCTGCCCTC CACCCTCCCCACTCTCCCTCCCTCCATCCTCCCTGCCCTCCACCCTCCCT GCCCTCCACCCTCCCCACTCTCCCTCCCTCCCCTCCTCCCTCCTCCCTGC CCTCCACCCTCCCCACTCTCCCTCCCTCCACCCTCCCTCCCCTCCACCCT CCCCACTCTCCCTCCCTCCCCCCCTGCCTTCCTCCCTCCCTCCCCTCCAC CTTCCCCACTCTCCCTCCCTCCATCCTCCCTGCCCTCCCCACTCTCCCTC CACCCTCCCTCCCCACCCTCCCTGTCCTCCATCCTCCCTCCCCACCCTCC CTCCCTCCACCCTCCCTGCCTTCCACTCTCCCTCCCTCCCCTCCACCCTC CTTACCTTCTACCCTCCCTCCCCACTCTCCCTCCCTCCACCCTCCCTGCA CTCCACC	NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	1/10			chr20	TogoVar
NRDC_chr1_51784210_51883727	51852550	G G	GTTTTAAA others(626): Show GTTTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTATATATAGT TTTAAACTATATAGTTTATATATAGTTTTAAACTATATAGTTTATATATA GTTTTAAACTATATAGTTTATATATAGTTTTAAACTATATAGTTTATATA TAGTTTAAAACTATATAGTTTATATAGTTTAAAACTATATAGTTTATATA GTTTAAAACTATATAGTTTATATAGTTTAAAACTATATAGTTTATATAGT TTTAAACTATATAGTTTAAACTACATAGTTTTAAACTATATAAACTATAT AGTTTTAAACTAGTTTATATATAGTTTTAAACTAGTTTAAACTATATAGT TTATGTAGTTTTAAACTATATAGTTTATGTAGTTTTAAACTATATAGTTT ATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATATA GTTTTAAACTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTTTT AAACTATATAGTTTTAAACTATGTAGTTTTAAACTATATAGTTCATGTAG TTTTAAACTATATAGTTTAAAACTATATAGTTTATGTAGTTTTAAACTAG TTTATATTTTTTTATATAGTTTAAACTATATAGT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0058 a0001c0002t0001g0058	1	244	0.0041	633	c.342 others(652): Show c.342-12037_342-12036insACTATATAGTTTAAACTATATAAAAA AATATAAACTAGTTTAAAACTACATAAACTATATAGTTTTAAACTATATA GTTTAAAACTACATGAACTATATAGTTTAAAACTACATAGTTTAAAACTA TATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAACTACATAG TTTAAAACTATATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAA AACTACATAAACTATATAGTTTAAAACTACATAAACTATATAGTTTAAAA CTACATAAACTATATAGTTTAAACTAGTTTAAAACTATATATAAACTAGT TTAAAACTATATAGTTTATATAGTTTAAAACTATGTAGTTTAAACTATAT AGTTTAAAACTATATAAACTATATAGTTTTAAACTATATAAACTATATAG TTTTAAACTATATAAACTATATAGTTTTAAACTATATAAACTATATAGTT TTAAACTATATATAAACTATATAGTTTAAAACTATATATAAACTATATAG TTTAAAACTATATATAAACTATATAGTTTAAAACTATATATAAACTATAT AGTTTAAAACTATATATAAACTATATAGTTTAAAACTATAAACTATATAG TTTAAAA	NRDC	ENSG00000078618.23	transcript	ENST00000352171.12	protein_coding	1/30			chr1	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(626): Show AGGGAGGTGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG AGGTGAGGGGCTCCTCTGCCCCCGGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGAGGCGGGGGGGGGGGGG GGGGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCC CCCGTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCC CAGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCC GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCGGCCAGCCGCCCGCCCAGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGGAGGGGGGGGT CAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	155	0.0065	633	c.155 others(652): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGGCTGACCCCCCCCTCCCCCCCTCCCGGACGAGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCG GGGGGCTGACCCCCCCACCTCCCTCCTGGGCGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTC CCGGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCC TGGACGGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGAC CCCCCCCCCCCCCCCCCCCCCGCCTCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGGGCAGAGGAGCC CCTCACCTCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCC ACCTCCC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar

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Search Results (Total: 10000 hits)