Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SUFU_chr10_102498972_102638535	102637701	A A	AATATAAT others(300): Show AATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATA TAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAAT TATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATA TATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATG ATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTA TAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAA ATATAATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0092 a0001c0001t0008g0092	1	268	0.0037	307	c.75 others(318): Show c.7546_*7547insATATAATTATATATGATTATAAAATATAATTATA TATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATG ATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTA TAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAA ATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATAT AATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATT ATATATGATTATAAAATATAATT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4167		chr10	TogoVar
SUPT3H_chr6_44821726_45382934	45292725	T T	TAAAAAAG others(300): Show TAAAAAAGACAAGGAGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGA GATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	262	0.0038	307	c.101 others(326): Show c.101+72475_101+72476insTTTTTTTTTTTGAGACGGAGTCTCGC TGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTC CGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCCCTCCTTGTCTTTTTT	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10			chr6	TogoVar
SUSD1_chr9_112035783_112180297	112106750	T T	TAAAAATA others(300): Show TAAAAATAAAAGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATT GCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0268	1	338	0.0030	307	c.117 others(326): Show c.1172-4466_1172-4465insTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCTCCTTTTATTTTT	SUSD1	ENSG00000106868.17	transcript	ENST00000374270.8	protein_coding	8/16			chr9	TogoVar
SYK_chr9_90796819_90903549	90884874	C C	CATATATA others(300): Show CATATATACATATATACATATATACACATATGTGTACATATGTGTATATA TACATATATATACACATATATATGTATATATACACATATGTGAATATGTA TGTGTTATATATACACATATGTGTATATGTATATATGTATATATACACAT ATGTGTATATATACATATATACACATATGTGTATATATACATATATACAT ATACACATGTGTATATATAACACATATATACACATATGTGTATATATACA TATATACATATACACATATGTGTATATATAACACATATATACATATTCAC ATATGTGT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0048 a0001c0013t0048	a0001c0013t0048g0241 a0001c0013t0048g0241	1	376	0.0027	307	c.158 others(326): Show c.1582-2860_1582-2859insCATATATACACATATGTGTACATATG TGTATATATACATATATATACACATATATATGTATATATACACATATGTG AATATGTATGTGTTATATATACACATATGTGTATATGTATATATGTATAT ATACACATATGTGTATATATACATATATACACATATGTGTATATATACAT ATATACATATACACATGTGTATATATAACACATATATACACATATGTGTA TATATACATATATACATATACACATATGTGTATATATAACACATATATAC ATATTCACATATGTGTATATATACATATATA	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
SYK_chr9_90796819_90903549	90884884	T T	TATATACA others(300): Show TATATACATATATACACATATGTGTACATATGTGTATATATACATATATA TACACATATATGTATATATACACATATGTGAATATGTATATATGTGTTAT ATATACACATATGTGTATATGTATATATACATATATACACATATGTGTAT ATATACATATATACATATACACATATGTGTATATATAACACATATATACA CATATGTGTATATATAACACATATATACACATATGTGTATATATAACACA TATATACACATATGTGTATATATACATATATACATATACACATATGTGTA TATATAAC	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA18975.hp1 HG02056.hp2 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0298 a0001c0001t0001g0304 a0001c0001t0001g0298 a0001c0001t0001g0304	2	376	0.0053	307	c.158 others(326): Show c.1582-2860_1582-2859insCATATATACACATATGTGTACATATG TGTATATATACATATATATACACATATATGTATATATACACATATGTGAA TATGTATATATGTGTTATATATACACATATGTGTATATGTATATATACAT ATATACACATATGTGTATATATACATATATACATATACACATATGTGTAT ATATAACACATATATACACATATGTGTATATATAACACATATATACACAT ATGTGTATATATAACACATATATACACATATGTGTATATATACATATATA CATATACACATATGTGTATATATAACATATA	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
SYN2_chr3_11999388_12197032	12095555	A A	AAAAAAAA others(300): Show AAAAAAAAAAAAAAAAACATTGGCCGGGCACGGTGGCTTACGCCTGTAAT CCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACGAGGTCAGGAGATCA AGACCATCCTGGCTAACATGGTGAAACCCCATCTCTACTGAATATTAAAA AAAAAAAAAAAAGCCGGGCGTTGTGGCAGGTGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGATGTGAACCCGGGAGGTGGAGCTTGCA GTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCGACGCAGCAAGAC TCCGTCTC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0024 a0003c0003t0001g0030 a0003c0003t0001g0031 a0003c0003t0001g0024 a0003c0003t0001g0030 a0003c0003t0001g0031	3	264	0.0114	307	c.378 others(326): Show c.378-45080_378-45079insCATTGGCCGGGCACGGTGGCTTACGC CTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACGAGGTCAG GAGATCAAGACCATCCTGGCTAACATGGTGAAACCCCATCTCTACTGAAT ATTAAAAAAAAAAAAAAAAGCCGGGCGTTGTGGCAGGTGCCTGTAGTCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATGATGTGAACCCGGGAGGTGGA GCTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCGACGCA GCAAGACTCCGTCTCAAAAAAAAAAAAAAAA	SYN2	ENSG00000157152.17	transcript	ENST00000621198.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYT2_chr1_202585596_202715454	202672778	G G	GGAGGGGG others(300): Show GGAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGGGGGAGGG GGGAGAGAGGGGGAGGGGGGAGAGAGGGGGAGGGAGGGGGGAGAGAGGGG GGAGAGGGGGAGGGAGGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAG GGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGGAGGGAGGGGG AGGGAGAGGGGGAGGGAGGGGGGAGAGAGGAGGGGGAGGGAGGGGGGAGA GAGAGGGGGAGGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGAGGGAGAGA GAGAGAGA	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0122 a0001c0001t0122	a0001c0001t0122g0241 a0001c0001t0122g0241	1	276	0.0036	307	c.-18 others(326): Show c.-18+37479_-18+37480insTCTCTCTCTCTCTCCCTCCCTCCCTC CCTCCCCCTCTCTCTCCCCCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCC CTCCTCTCTCCCCCCTCCCTCCCCCTCTCCCTCCCCCTCCCTCCCCCCTC TCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCTCCCTCCCCCTCTCTCT CCCCCCTCCCTCCCCCCTCCCTCCCCCTCTCCCCCCTCTCTCCCCCCTCC CTCCCCCTCTCTCCCCCCTCCCCCTCTCTCCCCCCTCCCCCTCTCTCCCC CCTCCCTCCCTCCCCCTCTCTCTCCCCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
SYT4_chr18_43262892_43282490	43280342	G G	GTGGTATA others(300): Show GTGGTATAGTGTTGTTGTGGTTTTTATATTGGTGTATGGTGGGGTGGTTT GGTCTGATTTTTTTTGTTCTAGTTTATTAGTTTTTTTTTTAGTTGGTGCT CTTTTTGGTGGGTTGGTGTGTTTTGTTTTATATGCTGTTGGTTGGTTTTT TTAGTGTTGGTTTGGTGGGTGTTGTCGGTGTTTTAGTTTCTTTTGTTTTT TGGTTTGGTTTTGTTTGTTTTTTTGAGGTTGGTATTTCGTTTGTTTTTTT TTTTTTGATGGTGTGGGGGTCTTTGTGTTGGCTGTATGTAGGTGGTTTTT ATTGTTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	446	0.0022	307	c.-30 others(318): Show c.-3062_-3061insACAACAATAAAAACCACCTACATACAGCCAACAC AAAGACCCCCACACCATCAAAAAAAAAAAAACAAACGAAATACCAACCTC AAAAAAACAAACAAAACCAAACCAAAAAACAAAAGAAACTAAAACACCGA CAACACCCACCAAACCAACACTAAAAAAACCAACCAACAGCATATAAAAC AAAACACACCAACCCACCAAAAAGAGCACCAACTAAAAAAAAAACTAATA AACTAGAACAAAAAAAATCAGACCAAACCACCCCACCATACACCAATATA AAAACCACAACAACACTATACCA	SYT4	ENSG00000132872.12	transcript	ENST00000255224.8	protein_coding		2853		chr18	TogoVar
TBC1D22A_chr22_46757650_47180693	47020505	T T	TAAAACAA others(300): Show TAAAACAAGGGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCC GAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAC GGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGTAG TGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATG GCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGC ACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02970.hp1 NA18522.hp1 others(2): Show HG02257.hp1 HG02970.hp1 NA18522.hp1 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0020	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0002g0097 others(2): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0002g0097 a0001c0001t0004g0022 a0001c0001t0020g0038	5	112	0.0446	307	c.120 others(328): Show c.1202-16556_1202-16555insCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAACAAGGG	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47020505	T T	TAAAACAA others(300): Show TAAAACAAGGGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCC GAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAC GGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGCGTAG TGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATG GCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGC ACTCCAGCCTGGGCGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03130.hp2 HG06807.hp2 HG02486.hp2 HG03130.hp2 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0005 a0002c0003t0009 a0001c0001t0001 a0001c0001t0005 a0002c0003t0009	a0001c0001t0001g0049 a0001c0001t0005g0050 a0002c0003t0009g0034 a0001c0001t0001g0049 a0001c0001t0005g0050 a0002c0003t0009g0034	3	112	0.0268	307	c.120 others(328): Show c.1202-16556_1202-16555insCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAACAAGGG	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBCE_chr1_235362427_235457443	235412182	C C	CCCCATCC others(300): Show CCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCATCC CCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCC CCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCCCCCTCCCCCTCCTCTCCC TTCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCCCTCTCCCTTCCCCCC TCCCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCTTCCCCCCCTCTCCC TTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCC TCCCCCCT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0107 a0001c0001t0003g0107	1	268	0.0037	307	c.186 others(324): Show c.186-2248_186-2247insATCCCCTCCCTTCCCCCTCCCCTCCCCT CCCCTCCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCC CCCTCCCCCTCCCCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCC CCCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCCTCCCCCCTCCC CCCCTCTCCCTTCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCTCCTCT CCCTTCCCCCCCTCTCCCTTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCC CCGTCCCCTCCTCTCCCCTCCCCCCTCCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TBCE_chr1_235362427_235457443	235412182	C C	CCCCATCC others(300): Show CCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCATCC CCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCC CCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCCCCTCCCCCTCCTCTCCCT TCCCCCCTCCCCCCCTCCCCTCCCCCCCTCCCCCCCTCTCCCTTCCCCCC TCCCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCTTCCCCCCCTCTCCC TTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCC TCCCCCCT	intron_variant intron_variant	MODIFIER	HG04199.hp1 NA19010.hp1 HG04199.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0062 a0001c0001t0003g0035 a0001c0001t0001g0062 a0001c0001t0003g0035	2	268	0.0075	307	c.186 others(324): Show c.186-2248_186-2247insATCCCCTCCCTTCCCCCTCCCCTCCCCT CCCCTCCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCC CCCTCCCCCTCCCCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCC CCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCCTCCCCCCCTCCC CCCCTCTCCCTTCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCTCCTCT CCCTTCCCCCCCTCTCCCTTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCC CCGTCCCCTCCTCTCCCCTCCCCCCTCCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TBCE_chr1_235362427_235457443	235412182	C C	CCCCATCC others(300): Show CCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCATCC CCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCC CCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCCCCTCCCCCTCCTCTCCCT TCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCCCCTCTCCCTTCCCCCC TCCCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCTTCCCCCCCTCTCCC TTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCC TCCCCCCT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	268	0.0037	307	c.186 others(324): Show c.186-2248_186-2247insATCCCCTCCCTTCCCCCTCCCCTCCCCT CCCCTCCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCC CCCTCCCCCTCCCCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCC CCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCC CCCCTCTCCCTTCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCTCCTCT CCCTTCCCCCCCTCTCCCTTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCC CCGTCCCCTCCTCTCCCCTCCCCCCTCCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TBCE_chr1_235362427_235457443	235412182	C C	CCCCATCC others(300): Show CCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCATCC CCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCC CCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCCCCTCCCCCTCCTCTCCCT TCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCCCTCTCCCTTCCCCCCC TCCCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCTTCCCCCCCTCTCCC TTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCC TCCCCCCT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	268	0.0037	307	c.186 others(324): Show c.186-2248_186-2247insATCCCCTCCCTTCCCCCTCCCCTCCCCT CCCCTCCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCC CCCTCCCCCTCCCCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCC CCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCC CCCTCTCCCTTCCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCTCCTCT CCCTTCCCCCCCTCTCCCTTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCC CCGTCCCCTCCTCTCCCCTCCCCCCTCCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TBCE_chr1_235362427_235457443	235412182	C C	CCCCATCC others(300): Show CCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCATCC CCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCC CCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCCCCTCCCCCTCCTCTCCCT TCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCCCTCTCCCTTCCCCCCT CCCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCTTCCCCCCCTCTCCCT TCCCCCCTCCCCCCTCCCCTCCCCCCCTCCCCCCGTCCCCTCCTCTCCCC TCCCCCCT	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0070 a0001c0001t0028g0070	1	268	0.0037	307	c.186 others(324): Show c.186-2248_186-2247insATCCCCTCCCTTCCCCCTCCCCTCCCCT CCCCTCCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCC CCCTCCCCCTCCCCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCC CCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCC CCCTCTCCCTTCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCTCCTCTC CCTTCCCCCCCTCTCCCTTCCCCCCTCCCCCCTCCCCTCCCCCCCTCCCC CCGTCCCCTCCTCTCCCCTCCCCCCTCCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TBCE_chr1_235362427_235457443	235412182	C C	CCCCATCC others(300): Show CCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCATCC CCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCC CCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCCCCTCCCCCTCCTCTCCCT TCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCCCTCTCCCTTCCCCCCT CCCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCTTCCCCCCCTCTCCCT TCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCC TCCCCCCT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	268	0.0037	307	c.186 others(324): Show c.186-2248_186-2247insATCCCCTCCCTTCCCCCTCCCCTCCCCT CCCCTCCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCC CCCTCCCCCTCCCCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCC CCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCC CCCTCTCCCTTCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCTCCTCTC CCTTCCCCCCCTCTCCCTTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCC CGTCCCCTCCTCTCCCCCTCCCCCCTCCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TBCE_chr1_235362427_235457443	235412182	C C	CCCCATCC others(300): Show CCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCATCC CCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCC CCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCCCCTCCCCCTCCTCTCCCT TCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCCCTCTCCCTTCCCCCCT CCCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCTTCCCCCCCTCTCCCT TCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCTCCC TCCCCCCT	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	268	0.0037	307	c.186 others(324): Show c.186-2248_186-2247insATCCCCTCCCTTCCCCCTCCCCTCCCCT CCCCTCCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCC CCCTCCCCCTCCCCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCC CCTCCCCCTCCTCTCCCTTCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCC CCCTCTCCCTTCCCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCTCCTCTC CCTTCCCCCCCTCTCCCTTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCC CGTCCCCTCCTCTCTCCCTCCCCCCTCCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TCF3_chr19_1604292_1657615	1628327	A A	ATGAGGCG others(300): Show ATGAGGCGGGAAGGGGACAGCAGAACTCACAGGGGATGAGGCGGGAAGGG GACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAACTCAC AGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAA GGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCA CAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGG GAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGAAAGGGGACAGCAGAGC TCACGGGG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0190 a0001c0002t0002g0190	1	352	0.0028	307	c.299 others(322): Show c.299-902_299-901insCCCCGTGAGCTCTGCTGTCCCCTTTCCGCC TCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTC TGCTGTCCCCTTCCCGCCTCATCCCCTGTGAGCTCTGCTGTCCCCTTCCC GCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCT CTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGTTCTGCTGTCCCCTTCC CGCCTCATCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCCCCTGT GAGTTCTGCTGTCCCCTTCCCGCCTCA	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628461	G G	GGGGGTGA others(300): Show GGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAG GGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTC ACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGG AAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAG CTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGATGAG GCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCA GAGCTCAC	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0338 a0001c0003t0005g0338	1	352	0.0028	307	c.299 others(324): Show c.299-1036_299-1035insGTGAGCTCTGCTGTCCCCTTCCCGCCTC ACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCATCCCCTGTGAGCTCTG CTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGC CTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCT CTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCC CGCCTCATCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGA GCTCTGCTGTCCCCTTCCCGCCTCACCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628726	C C	CAGAGCTC others(300): Show CAGAGCTCACAGGGGTGAGGCGGGAAAGGGACAGCAGAACTCACGGGGTG AGGTGGGAAGGGGACACCAGAGCTCACAGGGGGTGATGCGGGAAGGGGAC AGCAGAGCTCACAGGGGGTGAGGCGGGAAAGGGACAGCAGAACTCACGGG GTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGATGCGGGAAGGG GACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGTAGAGCTCACAG GGGGTGAGGCGGGAAGGGGACAGTAGAGCTCACGGGGGTGAGGCGGGAAG GGGACAGT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0017 a0017	a0017c0026 a0017c0026	a0017c0026t0002 a0017c0026t0002	a0017c0026t0002g0112 a0017c0026t0002g0112	1	352	0.0028	307	c.299 others(324): Show c.299-1301_299-1300insACTGTCCCCTTCCCGCCTCACCCCCGTG AGCTCTACTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTACTGTCCCC TTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCATCACCCCCT GTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCC TTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCATCACCC CCTGTGAGCTCTGGTGTCCCCTTCCCACCTCACCCCGTGAGTTCTGCTGT CCCTTTCCCGCCTCACCCCTGTGAGCTCT	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628737	G G	GGGGGTGA others(300): Show GGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAA GGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTC ACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGG GAAGGGGACAGCAGAGCTCACGGGGGTGGGGCAGGAAGGGGACAGCAGAG CTCACAGGGGGTGAGGCAGGAAGGGGACAGCAGAGCTCACGGGGTGAGGC GGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCA GAACTCAC	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0281 a0001c0003t0001g0281	1	352	0.0028	307	c.299 others(324): Show c.299-1312_299-1311insGTGAGTTCTGCTGTCCCCTTCCCGCCTC ATCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTG CTGTCCCCTTCCTGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCTGC CCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCT CTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCC CGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGA GCTCTGCTGTCCCCTTCCCGCCTCACCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1629129	C C	CAGAACTC others(300): Show CAGAACTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGGT GAGGCGGGAAGGGGACAGTAGAGCTCACAGAGGGTGGGGCGGGAAGGGGA CAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGTAGAGCTCACAGA GGGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGG GGACAGCAGAGCTCACAGGGGGTGGAGCGGGAAGGGGACAGCAGAGCTCA TGGGGATGGGGTGGGAAGGGGACAGCAGAGCTCACGGGTGGGGCGGGAAG GGGACAGA	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0054 a0002c0001t0054	a0002c0001t0054g0157 a0002c0001t0054g0157	1	352	0.0028	307	c.299 others(324): Show c.299-1704_299-1703insTCTGTCCCCTTCCCGCCCCACCCGTGAG CTCTGCTGTCCCCTTCCCACCCCATCCCCATGAGCTCTGCTGTCCCCTTC CCGCTCCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGT GAGCTCTGCTGTCCCCTTCCCGCCCCACCCTCTGTGAGCTCTACTGTCCC CTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCT CTGTGAGCTCTACTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGT CCCCTTCCCGCCCCACCCCCGTGAGTTCT	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TECTA_chr11_121096243_121196490	121185375	C C	CAGATGTT others(300): Show CAGATGTTCAGTGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAGTGCT TAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGG GAAAGAAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGA ATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAGTAG GGAAAGCAGATGTTCAGTGCTTAATGAATGAGTAGGGAAAGCAGATGTTC AATGCTTAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTA GGGAAAGA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01358.hp2 HG01884.hp2 others(1): Show HG01070.hp1 HG01358.hp2 HG01884.hp2 HG03654.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0215 a0002c0001t0001g0234 a0002c0001t0001g0236 others(1): Show a0002c0001t0001g0215 a0002c0001t0001g0234 a0002c0001t0001g0236 a0002c0001t0001g0237	4	348	0.0115	307	c.600 others(326): Show c.6000-2448_6000-2447insGTGCTTAATGAATGAGTAGGGAAAGC AGATGTTCAGTGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTT AATGAATGAGTAGGGAAAGAAGATGTTCAATGCTTAATGAATGAGTAGGG AAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAA TGCTTAATGAGTAGGGAAAGCAGATGTTCAGTGCTTAATGAATGAGTAGG GAAAGCAGATGTTCAATGCTTAATGAGTAGGGAAAGCAGATGTTGAATGC TTAATGAATGAGTAGGGAAAGAAGATGTTCA	TECTA	ENSG00000109927.11	transcript	ENST00000392793.6	protein_coding	20/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
TEF_chr22_41376942_41404326	41399967	T T	TAAAAAAA others(300): Show TAAAAAAAAAAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCACAGTCCGGCCTGGGTGACAGAGCGAGACTCCGT CTCAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG02735.hp2 HG00639.hp2 HG02735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0060 a0001c0002t0007g0061 a0001c0002t0007g0060 a0001c0002t0007g0061	2	386	0.0052	307	c.40 others(318): Show c.4007_*4008insAAAAAAAAAAAAAAGGCCGGGCGCGGTGGCTCAC GCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTC AGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAA AAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTT GCAGTGAGCCGAGATTGCGCCACTGCAGTCCACAGTCCGGCCTGGGTGAC AGAGCGAGACTCCGTCTCAAAAA	TEF	ENSG00000167074.15	transcript	ENST00000266304.9	protein_coding		642		chr22	TogoVar
TERT_chr5_1248167_1300068	1272982	G G	GACCGCCA others(300): Show GACCGCCATCCACAGTCACCACATCAGACCCCACGACCACCATCCACAGT CACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGA CCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCACCATC CACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACAC ATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGA CCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCA CCACATCA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0013 a0001c0002t0001g0013	1	392	0.0026	307	c.228 others(324): Show c.2287-703_2287-702insTGATGTGGTGACTGTGGATGGCGGTCGT GGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGG TGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGC GGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGTGGTCGTGGGGTCTG ATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTG GATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGTGGTCGTGG GGTCTGATGTGGTGACTGTGGATGGCGGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
THADA_chr2_43225851_43601038	43297822	G G	GGCGGGGG others(300): Show GGCGGGGGTCAGCCCCCCTGCCCGGCCAGCCACCCCGTCCGGGAGGTGAG GGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGATCAGCCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGTGTGTCAGCCCCCAGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0001 a0010c0013t0001	a0010c0013t0001g0013 a0010c0013t0001g0013	1	206	0.0049	307	c.443 others(326): Show c.4439-4610_4439-4609insACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCTGGGGGCTGACACACCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGATCCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGG TGGCTGGCCGGGCAGGGGGGCTGACCCCCGC	THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding	31/37			chr2	TogoVar
THADA_chr2_43225851_43601038	43297828	G G	GGTCAGCC others(300): Show GGTCAGCCCCCCTGCCCGGCCAGCCACCCCGTCCGGGAGGTGAGGGGCGC CTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCA GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGATCAGCCCCCCCGCCCGGC CAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTAC TGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGTGTGTCAGCCCCCAGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02922.hp1 HG03195.hp2 others(3): Show HG02717.hp1 HG02922.hp1 HG03195.hp2 HG03540.hp2 HG03579.hp2 NA19043.hp2	a0004 a0010 a0018 others(2): Show a0004 a0010 a0018 a0019 a0021	a0004c0005 a0010c0013 a0018c0022 others(2): Show a0004c0005 a0010c0013 a0018c0022 a0019c0033 a0021c0026	a0004c0005t0001 a0010c0013t0001 a0018c0022t0001 others(2): Show a0004c0005t0001 a0010c0013t0001 a0018c0022t0001 a0019c0033t0001 a0021c0026t0003	a0004c0005t0001g0026 a0010c0013t0001g0022 a0010c0013t0001g0032 others(3): Show a0004c0005t0001g0026 a0010c0013t0001g0022 a0010c0013t0001g0032 a0018c0022t0001g0014 a0019c0033t0001g0125 a0021c0026t0003g0002	6	206	0.0291	307	c.443 others(326): Show c.4439-4616_4439-4615insACCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCTGGGGGCTGACACACCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGA TCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGTGGCTGGCCGGGCAGGGGGGCTGAC	THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding	31/37			chr2	TogoVar
THADA_chr2_43225851_43601038	43297828	G G	GGTCAGCC others(300): Show GGTCAGCCCCCCTGCCCGGCCAGCCACCCCGTCCGGGAGGTGAGGGGCGC CTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCA GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGATCAGCTCCCCCGCCCGGC CAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTAC TGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGTGTGTCAGCCCCCAGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0010 a0010	a0010c0037 a0010c0037	a0010c0037t0001 a0010c0037t0001	a0010c0037t0001g0066 a0010c0037t0001g0066	1	206	0.0049	307	c.443 others(326): Show c.4439-4616_4439-4615insACCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCTGGGGGCTGACACACCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGAGCTGA TCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGTGGCTGGCCGGGCAGGGGGGCTGAC	THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding	31/37			chr2	TogoVar
THBS3_chr1_155190588_155212897	155191012	G G	GTCCCGGG others(300): Show GTCCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGG GCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGGCGG GTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGC TGCGGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTG ACACCGTGGGGCTGCGGGCGCGGTGGAGCCCGGGGGCCGGCCTGCTCTCC GGGGCCGAGGGTGACACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCCG GCCTGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	298	0.0034	307	c.48 others(318): Show c.4828_*4829insGAGCAGGCCGGCCCCGGGCTCCACCGCGCCCGCA GCCCACGGTGTCACCCTCGGCCCCGGAGAGCAGGCCGGCCCCCGGGCTCC ACCGCGCCCGCAGCCCCACGGTGTCACCTCGGCCCCGGAGAGCAGGCCGG CCCCGGGCTCCACCGCGCCCCGCAGCCCACGGTGTCACCTCGGCCCCGGA GAGCAGGCCGGCCCCGGGCTCCACCCGCCCCCCCCAGCCCACGGTGTCAC CTCGGCCCCGGACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCAGCCC ACGGTGTCACCTCGGCCCCGGGA	THBS3	ENSG00000169231.13	transcript	ENST00000368378.7	protein_coding		4575		chr1	TogoVar
TMEM163_chr2_134450759_134724000	134607701	G G	GACAGACC others(300): Show GACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGT GCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGAC CCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTG AAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCTTGAGA ACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGA CAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTAC TGGTGAAA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0025	1	222	0.0045	307	c.323 others(326): Show c.323-55611_323-55610insTTTCACCAGTACAGTTCTCGGGGTCT GTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAG TTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCAAGGTCTGTCCTTT TCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGG GGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAG CACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGT CCTTTTCACCAGCACAGTTCTCGGGGTCTGT	TMEM163	ENSG00000152128.13	transcript	ENST00000281924.6	protein_coding	2/7			chr2	TogoVar
TMEM163_chr2_134450759_134724000	134607701	G G	GACAGACC others(300): Show GACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGT GCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGAC CTTGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTG AAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGA ACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGA CAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGC TGGTGAAA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0153 a0001c0002t0003g0153	1	222	0.0045	307	c.323 others(326): Show c.323-55611_323-55610insTTTCACCAGCACAGTTCTCGGGGTCT GTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAG TTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTT TCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGG GGTCTGTCCTTTTCACCAGCACAGTTCTCAAGGTCTGTCCTTTTCACCAG CACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGT CCTTTTCACCAGCACAGTTCTCGGGGTCTGT	TMEM163	ENSG00000152128.13	transcript	ENST00000281924.6	protein_coding	2/7			chr2	TogoVar
TMEM202_chr15_72393305_72413367	72396670	T T	TCCGGGAG others(300): Show TCCGGGAGGGAGGTGGGGGTCAGCCCCCGCCAGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCGCCTCTGCCCGGCCACCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGAGTCAGCCC CCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCC CCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCTGGC CGCCCCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 NA18991.hp1 NA19089.hp2 HG02071.hp1 NA18991.hp1 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	3	396	0.0076	307	c.-16 others(318): Show c.-1657_-1656insCCGGGAGGGAGGTGGGGGTCAGCCCCCGCCAGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCACCCGGCCA GCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCACCCCTACTG GGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGG TGGGGGAGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGG GCGCCTCTGCCTGGCCGCCCCTA	TMEM202	ENSG00000187806.9	transcript	ENST00000341689.4	protein_coding		1634		chr15	TogoVar
TMTC1_chr12_29495840_29788942	29670992	T T	TAAGAAAT others(300): Show TAAGAAATTAACAAAAATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCCGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCATAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp2 HG02698.hp2 others(11): Show HG02486.hp1 HG02486.hp2 HG02698.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG03942.hp2 NA18960.hp1 NA18982.hp2 NA19006.hp1 NA19007.hp2 NA19062.hp2 NA19065.hp2 NA19066.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0001c0012 a0002c0004	a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 others(10): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0014 a0001c0001t0016 a0001c0001t0047 a0001c0001t0074 a0001c0002t0001 a0001c0002t0059 a0001c0005t0069 a0001c0007t0018 a0001c0012t0010 a0002c0004t0008	a0001c0001t0002g0141 a0001c0001t0004g0068 a0001c0001t0009g0039 others(11): Show a0001c0001t0002g0141 a0001c0001t0004g0068 a0001c0001t0009g0039 a0001c0001t0009g0209 a0001c0001t0014g0164 a0001c0001t0016g0198 a0001c0001t0047g0124 a0001c0001t0074g0182 a0001c0002t0001g0146 a0001c0002t0059g0131 a0001c0005t0069g0203 a0001c0007t0018g0017 a0001c0012t0010g0018 a0002c0004t0008g0221	14	276	0.0507	307	c.939 others(326): Show c.939-37657_939-37656insTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTATGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCGGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCCATTTTTGTTAATTTCTT	TMTC1	ENSG00000133687.16	transcript	ENST00000539277.6	protein_coding	5/17			chr12	TogoVar
TMTC1_chr12_29495840_29788942	29670992	T T	TAAGAAAT others(300): Show TAAGAAATTAACAAAAATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCCGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00558.hp1 others(79): Show HG00140.hp2 HG00323.hp1 HG00558.hp1 HG00597.hp2 HG01081.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01192.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02451.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02717.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03239.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03669.hp1 HG03710.hp1 HG03834.hp1 HG04184.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18906.hp1 NA18940.hp1 NA18953.hp2 NA18966.hp2 NA18999.hp2 NA19002.hp2 NA19012.hp1 NA19062.hp1 NA19063.hp1 NA19074.hp2 NA19076.hp2 NA19077.hp2 NA19084.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0005 others(14): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0014 a0001c0015 a0001c0017 a0002c0003 a0002c0004 a0002c0009 a0002c0011 a0002c0027 a0002c0029 a0003c0023 a0004c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(66): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0011 a0001c0001t0027 a0001c0001t0029 a0001c0001t0031 a0001c0001t0035 a0001c0001t0050 a0001c0001t0066 a0001c0001t0078 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0011 a0001c0002t0013 a0001c0002t0019 a0001c0002t0034 a0001c0002t0049 a0001c0002t0051 a0001c0002t0060 a0001c0005t0002 a0001c0005t0003 a0001c0005t0010 a0001c0005t0021 a0001c0005t0045 a0001c0006t0001 a0001c0006t0003 a0001c0006t0018 a0001c0006t0024 a0001c0006t0071 a0001c0006t0075 a0001c0007t0006 a0001c0007t0025 a0001c0007t0035 a0001c0007t0058 a0001c0008t0001 a0001c0008t0013 a0001c0008t0032 a0001c0008t0044 a0001c0014t0019 a0001c0015t0019 a0001c0017t0009 a0002c0003t0017 a0002c0003t0022 a0002c0003t0038 a0002c0003t0085 a0002c0003t0087 a0002c0003t0097 a0002c0004t0008 a0002c0004t0012 a0002c0004t0017 a0002c0004t0040 a0002c0004t0081 a0002c0004t0084 a0002c0009t0023 a0002c0009t0028 a0002c0009t0040 a0002c0011t0006 a0002c0011t0025 a0002c0027t0082 a0002c0029t0089 a0003c0023t0005 a0004c0016t0002	a0001c0001t0001g0147 a0001c0001t0002g0149 a0001c0001t0003g0134 others(79): Show a0001c0001t0001g0147 a0001c0001t0002g0149 a0001c0001t0003g0134 a0001c0001t0004g0206 a0001c0001t0005g0069 a0001c0001t0009g0159 a0001c0001t0009g0160 a0001c0001t0011g0098 a0001c0001t0027g0101 a0001c0001t0029g0047 a0001c0001t0029g0048 a0001c0001t0031g0065 a0001c0001t0031g0066 a0001c0001t0035g0082 a0001c0001t0050g0143 a0001c0001t0066g0064 a0001c0001t0078g0199 a0001c0002t0001g0104 a0001c0002t0002g0170 a0001c0002t0003g0040 a0001c0002t0003g0084 a0001c0002t0003g0094 a0001c0002t0003g0119 a0001c0002t0004g0138 a0001c0002t0005g0135 a0001c0002t0011g0127 a0001c0002t0011g0201 a0001c0002t0013g0115 a0001c0002t0019g0052 a0001c0002t0034g0133 a0001c0002t0049g0099 a0001c0002t0051g0061 a0001c0002t0060g0169 a0001c0005t0002g0116 a0001c0005t0003g0132 a0001c0005t0010g0105 a0001c0005t0021g0111 a0001c0005t0045g0088 a0001c0006t0001g0003 a0001c0006t0001g0031 a0001c0006t0003g0024 a0001c0006t0018g0032 a0001c0006t0024g0023 a0001c0006t0071g0026 a0001c0006t0075g0004 a0001c0007t0006g0006 a0001c0007t0025g0010 a0001c0007t0035g0021 a0001c0007t0058g0022 a0001c0008t0001g0095 a0001c0008t0013g0092 a0001c0008t0032g0125 a0001c0008t0044g0043 a0001c0014t0019g0027 a0001c0015t0019g0044 a0001c0017t0009g0150 a0002c0003t0017g0233 a0002c0003t0022g0252 a0002c0003t0022g0253 a0002c0003t0038g0244 a0002c0003t0085g0226 a0002c0003t0087g0247 a0002c0003t0097g0245 a0002c0004t0008g0265 a0002c0004t0012g0240 a0002c0004t0012g0266 a0002c0004t0012g0275 a0002c0004t0017g0229 a0002c0004t0040g0274 a0002c0004t0081g0222 a0002c0004t0084g0235 a0002c0009t0023g0216 a0002c0009t0028g0215 a0002c0009t0040g0267 a0002c0011t0006g0217 a0002c0011t0006g0219 a0002c0011t0025g0218 a0002c0027t0082g0269 a0002c0029t0089g0268 a0003c0023t0005g0129 a0004c0016t0002g0049 a0004c0016t0002g0050	82	276	0.2971	307	c.939 others(326): Show c.939-37657_939-37656insTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCGGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCCATTTTTGTTAATTTCTT	TMTC1	ENSG00000133687.16	transcript	ENST00000539277.6	protein_coding	5/17			chr12	TogoVar
TMTC1_chr12_29495840_29788942	29670992	T T	TAAGAAAT others(300): Show TAAGAAATTAACAAAAATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCCGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG00642.hp1 others(48): Show HG00099.hp1 HG00423.hp1 HG00642.hp1 HG00642.hp2 HG00738.hp1 HG00741.hp2 HG01123.hp2 HG01261.hp1 HG01361.hp2 HG01433.hp2 HG01891.hp2 HG01934.hp2 HG02027.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp2 HG02132.hp1 HG02300.hp2 HG02451.hp1 HG02559.hp2 HG02615.hp1 HG02683.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG03209.hp2 HG03834.hp2 NA18612.hp2 NA18940.hp2 NA18947.hp2 NA18949.hp2 NA18953.hp1 NA18966.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18994.hp2 NA18995.hp2 NA19007.hp1 NA19011.hp1 NA19030.hp2 NA19068.hp1 NA19068.hp2 NA19086.hp2 NA19091.hp2 NA20129.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(13): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0010 a0001c0014 a0001c0015 a0001c0022 a0001c0024 a0002c0003 a0002c0004 a0002c0009 a0002c0026 a0002c0028	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(40): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0015 a0001c0001t0020 a0001c0001t0026 a0001c0001t0027 a0001c0001t0042 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0011 a0001c0002t0016 a0001c0002t0020 a0001c0002t0043 a0001c0002t0054 a0001c0002t0072 a0001c0005t0001 a0001c0005t0068 a0001c0006t0013 a0001c0007t0021 a0001c0007t0030 a0001c0008t0063 a0001c0010t0001 a0001c0010t0010 a0001c0014t0006 a0001c0015t0002 a0001c0022t0064 a0001c0024t0030 a0002c0003t0007 a0002c0003t0008 a0002c0003t0083 a0002c0003t0090 a0002c0004t0007 a0002c0004t0008 a0002c0004t0022 a0002c0009t0017 a0002c0026t0092 a0002c0028t0098	a0001c0001t0001g0080 a0001c0001t0001g0086 a0001c0001t0002g0174 others(48): Show a0001c0001t0001g0080 a0001c0001t0001g0086 a0001c0001t0002g0174 a0001c0001t0002g0176 a0001c0001t0003g0087 a0001c0001t0004g0171 a0001c0001t0005g0142 a0001c0001t0006g0085 a0001c0001t0015g0163 a0001c0001t0020g0121 a0001c0001t0026g0071 a0001c0001t0027g0042 a0001c0001t0042g0091 a0001c0002t0001g0108 a0001c0002t0001g0162 a0001c0002t0001g0189 a0001c0002t0003g0107 a0001c0002t0003g0178 a0001c0002t0004g0060 a0001c0002t0004g0079 a0001c0002t0006g0186 a0001c0002t0006g0188 a0001c0002t0011g0211 a0001c0002t0016g0112 a0001c0002t0020g0191 a0001c0002t0043g0123 a0001c0002t0054g0190 a0001c0002t0072g0213 a0001c0005t0001g0103 a0001c0005t0068g0046 a0001c0006t0013g0015 a0001c0007t0021g0009 a0001c0007t0030g0019 a0001c0008t0063g0106 a0001c0010t0001g0054 a0001c0010t0010g0056 a0001c0014t0006g0033 a0001c0015t0002g0117 a0001c0022t0064g0007 a0001c0024t0030g0214 a0002c0003t0007g0250 a0002c0003t0008g0254 a0002c0003t0008g0264 a0002c0003t0083g0241 a0002c0003t0090g0262 a0002c0004t0007g0263 a0002c0004t0008g0276 a0002c0004t0022g0224 a0002c0009t0017g0251 a0002c0026t0092g0261 a0002c0028t0098g0270	51	276	0.1848	307	c.939 others(326): Show c.939-37657_939-37656insTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCGGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCCATTTTTGTTAATTTCTT	TMTC1	ENSG00000133687.16	transcript	ENST00000539277.6	protein_coding	5/17			chr12	TogoVar
TNFRSF10D_chr8_23130588_23169027	23156325	T T	TAAAAGCT others(300): Show TAAAAGCTACTTACCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGG GTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAA CCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCG CCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACC CGGGAAGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCAGTCCGCAG TCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0056 a0001c0001t0016g0056	1	444	0.0023	307	c.151 others(324): Show c.151-1347_151-1346insTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCG ATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGA TGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGT GCTGGGATTACAGGCGGTAAGTAGCTTTT	TNFRSF10D	ENSG00000173530.6	transcript	ENST00000312584.4	protein_coding	1/8			chr8	TogoVar
TOPAZ1_chr3_44236886_44337098	44298800	G G	GAAAAAAT others(300): Show GAAAAAATAGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00642.hp2 HG00733.hp2 others(8): Show HG00597.hp1 HG00642.hp2 HG00733.hp2 HG02148.hp2 HG02559.hp2 HG02818.hp2 HG03540.hp1 HG03927.hp1 HG04115.hp1 NA18967.hp1 NA19030.hp2	a0001 a0006 a0007 others(1): Show a0001 a0006 a0007 a0009	a0001c0001 a0001c0016 a0006c0010 others(2): Show a0001c0001 a0001c0016 a0006c0010 a0007c0009 a0009c0012	a0001c0001t0001 a0001c0016t0001 a0006c0010t0001 others(2): Show a0001c0001t0001 a0001c0016t0001 a0006c0010t0001 a0007c0009t0001 a0009c0012t0001	a0001c0001t0001g0011 a0001c0001t0001g0047 a0001c0001t0001g0070 others(8): Show a0001c0001t0001g0011 a0001c0001t0001g0047 a0001c0001t0001g0070 a0001c0001t0001g0085 a0001c0001t0001g0091 a0001c0001t0001g0099 a0001c0016t0001g0087 a0006c0010t0001g0050 a0007c0009t0001g0081 a0009c0012t0001g0021 a0009c0012t0001g0022	11	258	0.0426	307	c.379 others(326): Show c.3798-5203_3798-5202insCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAATAGGGG	TOPAZ1	ENSG00000173769.4	transcript	ENST00000309765.4	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
TOX_chr8_58800412_59124147	59092275	A A	ATATTATA others(300): Show ATATTATATATACATTATATATATATTATATATACATTATATATATATTA TATATACATTATATATATATATTATATATACATTATATATATTATATATT ATATATACATTATATATATTATATATTATATATACATTATATATATTATA TATTATATATACATTATATATATTATATATTATATATACATTATATATAT TATATATTATATATACATTATATATATTATATATTATATATACATTATAT ATATTATATATTATATATACATTATATATATTATATATTATATATACATT ATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0223 a0001c0001t0003g0223	1	224	0.0045	307	c.102 others(326): Show c.102+26610_102+26611insATATATATAATGTATATATAATATAT AATATATATAATGTATATATAATATATAATATATATAATGTATATATAAT ATATAATATATATAATGTATATATAATATATAATATATATAATGTATATA TAATATATAATATATATAATGTATATATAATATATAATATATATAATGTA TATATAATATATAATATATATAATGTATATATAATATATAATATATATAA TGTATATATAATATATATATATAATGTATATATAATATATATATAATGTA TATATAATATATATATAATGTATATATAATA	TOX	ENSG00000198846.6	transcript	ENST00000361421.2	protein_coding	1/8			chr8	TogoVar
TPCN2_chr11_69043932_69095597	69077105	T T	TTGCCCTC others(300): Show TTGCCCTCCTGCCCTCCTGCCATGTCCCTCCACCTGCCCTCCTGCCATGT CCCTCCACCTGCCCTCCTGCCGTGTCCCTCCACTTGCCCTCCTGCCCTCC TGTTGTGTCTGTCCACTTTCCCTCCTGCCCTCCTGCCATGTCCCTCCACC TGCCCTCCTGCCGTGTCCCTCCACCTGCCCTCCTGTTGTGTCTGTCCACT TGTCCTCCTGCCATGTCCCTCCACCTGCCCTCCTGCCACGTCCCTCCACC TGCCCTCCTGCCCTCCTGCCATGTCCCTCCACCTGCCCTCTTGCCACGTC CCTCCACC	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18942.hp1 NA18945.hp2 others(7): Show NA18612.hp1 NA18942.hp1 NA18945.hp2 NA18993.hp1 NA18997.hp2 NA19004.hp2 NA19067.hp2 NA19080.hp2 NA19086.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0011 a0001c0001t0005g0286 a0001c0001t0005g0288 others(4): Show a0001c0001t0005g0011 a0001c0001t0005g0286 a0001c0001t0005g0288 a0001c0001t0005g0289 a0001c0001t0005g0292 a0001c0001t0005g0295 a0001c0001t0005g0296	10	404	0.0248	307	c.123 others(326): Show c.1231-1332_1231-1331insATGTCCCTCCACCTGCCCTCCTGCCG TGTCCCTCCACTTGCCCTCCTGCCCTCCTGTTGTGTCTGTCCACTTTCCC TCCTGCCCTCCTGCCATGTCCCTCCACCTGCCCTCCTGCCGTGTCCCTCC ACCTGCCCTCCTGTTGTGTCTGTCCACTTGTCCTCCTGCCATGTCCCTCC ACCTGCCCTCCTGCCACGTCCCTCCACCTGCCCTCCTGCCCTCCTGCCAT GTCCCTCCACCTGCCCTCTTGCCACGTCCCTCCACCTGCCCTCCTGCCCT CCTGCCATGTCCCTCCACCTGCCCTCCTGCC	TPCN2	ENSG00000162341.18	transcript	ENST00000294309.8	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273203	A A	AATATATA others(300): Show AATATATATAAAAATTATATATATATTATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTGTATATATAAAAATTATAT ATATATTATATATATATAAAAATTATATATATATTATATATATATAAAAA TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA AAAATTATATAAAAATTATATATATATTATATATATAAAAATTATATATA TATTATATATATATAAAAATTATATATATTATATATATATAAAAATTATA TATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0000 a0000	a0000c0005 a0000c0005	a0000c0005t0004 a0000c0005t0004	a0000c0005t0004g0056 a0000c0005t0004g0056	1	272	0.0037	307	c.27 others(318): Show c.2768_*2769insATATATATAAAAATTATATATATATTATATATAT AAAAATTATATATATATTATATATATATAAAAATTATATATATATTGTAT ATATAAAAATTATATATATATTATATATATATAAAAATTATATATATATT ATATATATATAAAAATTATATATATATTATATATATATAAAAATTATATA TATATTATATATATAAAAATTATATAAAAATTATATATATATTATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATTATATA TATATAAAAATTATATATATATT	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2090		chr11	TogoVar
TRIML1_chr4_188134441_188152743	188152582	A A	AAGGGAAG others(300): Show AAGGGAAGTGAGAGTGGGGGGTGGGAAGGGGAGTGAGAGAGGGGGTGAGA AGGGAGTGAGAGTGGGGGTTGAAAAGGGGAGTGAGGAGGGTGAGAGGGGG TGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTTGAGAAGGGGAGT GTGAGTGGGGGGTGAGAGGGGAGTGAGAGTGGGGGTGAGAAGGGGGTGAG AGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGGTGAGAAGGGAAGTGTGAG TGGGGGTGAGAAGGGGAGTGAGTGAGGGGTTGAGAAGGGGAGTGAGAGTG GGGGTGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	228	0.0044	307	c.52 others(318): Show c.5210_*5211insAGGGAAGTGAGAGTGGGGGGTGGGAAGGGGAGTG AGAGAGGGGGTGAGAAGGGAGTGAGAGTGGGGGTTGAAAAGGGGAGTGAG GAGGGTGAGAGGGGGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGG GTTGAGAAGGGGAGTGTGAGTGGGGGGTGAGAGGGGAGTGAGAGTGGGGG TGAGAAGGGGGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGGTGA GAAGGGAAGTGTGAGTGGGGGTGAGAAGGGGAGTGAGTGAGGGGTTGAGA AGGGGAGTGAGAGTGGGGGTGAG	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		4840		chr4	TogoVar
TSHZ2_chr20_52967358_53500330	53204278	T T	TATGATGA others(300): Show TATGATGATATGATACTATATCATCATATGATGATATGATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATGATGATATGATACTATATCATCATATGATGATATGATACTATA TCATCATATGATGATATGATACTATATCATCACATGATGATATGATACTA TATCATCACATGATGATATGATACTATATCATCACATGATGATATGATAC TATATCATCACATGATGATATGATACTATATCATCACATGATGATATGAT ACTATATC	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0114 a0001c0002t0006g0114	1	174	0.0058	307	c.41- others(324): Show c.41-49219_41-49218insGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATGATGATATGATACTATATCATCATAT GATGATATGATACTATATCATCATATGATGATATGATACTATATCATCAT ATGATGATATGATACTATATCATCATATGATGATATGATACTATATCATC ACATGATGATATGATACTATATCATCACATGATGATATGATACTATATCA TCACATGATGATATGATACTATATCATCACATGATGATATGATACTATAT CATCACATGATGATATGATACTATATCAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TSHZ2_chr20_52967358_53500330	53204407	C C	CATTATGA others(300): Show CATTATGATATGATACTATATCATCATATAACATTATGATATGATACTAT ATCATCATATAACATTATGATATGATACTATATCATCATATAACATTATG ATATGATACTATATCATCATATAACATTATGATATGATACTATATCATCA TATAACATTATGATATACTATATCATCATATAACATTATGATATGATACT ATATCATCATATAACATTATGATATGATACTATATCATCATATAACATTA TGATATGATACTATATCATCATATAACATTATGATATGATACTATATCAT AATATAAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG04199.hp2 NA18968.hp1 HG00621.hp2 HG04199.hp2 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0050 a0001c0001t0002 a0001c0001t0050	a0001c0001t0002g0117 a0001c0001t0002g0141 a0001c0001t0050g0011 a0001c0001t0002g0117 a0001c0001t0002g0141 a0001c0001t0050g0011	3	174	0.0172	307	c.41- others(324): Show c.41-49090_41-49089insTATGATATGATACTATATCATCATATAA CATTATGATATGATACTATATCATCATATAACATTATGATATGATACTAT ATCATCATATAACATTATGATATGATACTATATCATCATATAACATTATG ATATGATACTATATCATCATATAACATTATGATATACTATATCATCATAT AACATTATGATATGATACTATATCATCATATAACATTATGATATGATACT ATATCATCATATAACATTATGATATGATACTATATCATCATATAACATTA TGATATGATACTATATCATAATATAATAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TSHZ2_chr20_52967358_53500330	53204407	C C	CATTATGA others(300): Show CATTATGATATGATACTATATCATCATATAACATTATGATATGATACTAT ATCATCATATAACATTATGATATGATACTATATCATCATATAACATTATG ATATGATACTATATCATCATATAACATTATGATATGATACTATATCATCA TATAACATTATGATATGATACTATATCATCATATAACATTATGATATACT ATATCATCATATAACATTATGATATGATACTATATCATCATATAACATTA TGATATGATACTATATCATCATATAACATTATGATATGATACTATATCAT AATATAAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA18969.hp1 HG00544.hp2 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0004 a0001c0001t0008	a0001c0001t0004g0129 a0001c0001t0008g0166 a0001c0001t0004g0129 a0001c0001t0008g0166	2	174	0.0115	307	c.41- others(324): Show c.41-49090_41-49089insTATGATATGATACTATATCATCATATAA CATTATGATATGATACTATATCATCATATAACATTATGATATGATACTAT ATCATCATATAACATTATGATATGATACTATATCATCATATAACATTATG ATATGATACTATATCATCATATAACATTATGATATGATACTATATCATCA TATAACATTATGATATACTATATCATCATATAACATTATGATATGATACT ATATCATCATATAACATTATGATATGATACTATATCATCATATAACATTA TGATATGATACTATATCATAATATAATAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TTC13_chr1_230901243_230983861	230949404	T T	TAAAAAAA others(300): Show TAAAAAAAAAAAGGCCGGGCGCGGTAGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCC TGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGC GCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0185 a0001c0004t0002g0185	1	336	0.0030	307	c.514 others(324): Show c.514-3951_514-3950insTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAA GCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCTACCGCGCCCGGCCTTTTTTTTTTT	TTC13	ENSG00000143643.13	transcript	ENST00000366661.9	protein_coding	4/22			chr1	TogoVar
TTC13_chr1_230901243_230983861	230949404	T T	TAAAAAAA others(300): Show TAAAAAAAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCC TGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGC GCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02280.hp1 HG02486.hp1 others(11): Show HG01261.hp1 HG02280.hp1 HG02486.hp1 HG02559.hp1 HG02630.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02976.hp1 HG03041.hp2 HG03471.hp1 NA20805.hp2	a0001 a0005 a0001 a0005	a0001c0004 a0005c0022 a0001c0004 a0005c0022	a0001c0004t0002 a0001c0004t0008 a0005c0022t0002 a0001c0004t0002 a0001c0004t0008 a0005c0022t0002	a0001c0004t0002g0017 a0001c0004t0002g0167 a0001c0004t0002g0181 others(10): Show a0001c0004t0002g0017 a0001c0004t0002g0167 a0001c0004t0002g0181 a0001c0004t0002g0182 a0001c0004t0002g0186 a0001c0004t0002g0187 a0001c0004t0002g0190 a0001c0004t0002g0191 a0001c0004t0002g0192 a0001c0004t0002g0194 a0001c0004t0002g0200 a0001c0004t0008g0184 a0005c0022t0002g0183	14	336	0.0417	307	c.514 others(324): Show c.514-3951_514-3950insTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAA GCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCTTTTTTTTTTT	TTC13	ENSG00000143643.13	transcript	ENST00000366661.9	protein_coding	4/22			chr1	TogoVar
TTLL8_chr22_50013575_50063298	50028644	A A	ACCCCCAT others(300): Show ACCCCCATCACACCGTCCTGAAGACCCCACACACACTCGTAAAGACCCCC GTCATACCATCCTGAAGACCCCCACATACCCTCGTAAAGACCCCATCACA CCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCT GAAGACCCCACACACCCTCGTAAAGACCCCCATCACACCGTCCTGAAGAC CCCACACACACTCGTAAAGACCCCATCACACCATCCTAAAGACCCCCACA CACACTCGTAGAGACCCCATCACACCATCCTAAAGACCCCACACACCCTC GTAAAGAC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0017 a0017	a0017c0026 a0017c0026	a0017c0026t0001 a0017c0026t0001	a0017c0026t0001g0023 a0017c0026t0001g0023	1	224	0.0045	307	c.225 others(326): Show c.2251+1785_2251+1786insGTCTTTACGAGGGTGTGTGGGGTCTT TAGGATGGTGTGATGGGGTCTCTACGAGTGTGTGTGGGGGTCTTTAGGAT GGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGTCTTCAGGACGGTGTGA TGGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGT CTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACG AGGGTATGTGGGGGTCTTCAGGATGGTATGACGGGGGTCTTTACGAGTGT GTGTGGGGTCTTCAGGACGGTGTGATGGGGG	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TTLL8_chr22_50013575_50063298	50028931	C C	CCCACACA others(300): Show CCCACACATACCCTCGTAAAGACCCCATCACACCATCCTAAAGACCCCCA CACACACTCGTAAAGACCCCATCACACCATCCTGAAGACCCCCACACACA CTCGTAAAGACCCCCATCACACCGTCCTGAAGACCCCACACACACTCGTA AAGACCCCCATCACACCATCCTGAAGACCCCCACACACACTCGTAAAGAC CCCCATCACACCGTCCTGAAGACCCCACACACACTCGTAAAGACCCCATC ACACCATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCAT CCTGAAGA	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0118 a0003c0003t0001g0118	1	224	0.0045	307	c.225 others(326): Show c.2251+1498_2251+1499insTCTTCAGGATGGTGTGATGGGGTCTT TACGAGGGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGT GTGTGTGGGGTCTTCAGGACGGTGTGATGGGGGTCTTTACGAGTGTGTGT GGGGGTCTTCAGGATGGTGTGATGGGGGTCTTTACGAGTGTGTGTGGGGT CTTCAGGACGGTGTGATGGGGGTCTTTACGAGTGTGTGTGGGGGTCTTCA GGATGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGGTCTTTAGGATGG TGTGATGGGGTCTTTACGAGGGTATGTGTGG	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TTLL8_chr22_50013575_50063298	50028975	C C	CCCCACAC others(300): Show CCCCACACACACTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCCAC ACACCCTCGTAAAGACCCCCATCACACCATCCTAAAGACCCCCACACACC CTCGTAAAGACCCCATCACACCATCCTAAAGACCCCCACACACACTCGTA AAGACCCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACC CCCATCACACCATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCA CACCGTCCTAAAGACCCCCACACACCCTCGTAAAGACCCCATCACACCAT CCTGAAGA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0074 a0001c0001t0002g0074	1	224	0.0045	307	c.225 others(326): Show c.2251+1454_2251+1455insTCTTCAGGATGGTGTGATGGGGTCTT TACGAGGGTGTGTGGGGGTCTTTAGGACGGTGTGATGGGGTCTTTACGAG GGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGGTCTTTACGAGGGTGTG TGGGGTCTTCAGGACGGTGTGATGGGGGTCTTTACGAGTGTGTGTGGGGG TCTTTAGGATGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGGTCTTTA GGATGGTGTGATGGGGGTCTTTACGAGGGTGTGTGGGGGTCTTCAGGACG GTGTGATGGGGTCTTTACGAGTGTGTGTGGG	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TUBB2B_chr6_3219277_3232653	3222032	T T	TCGCCACC others(300): Show TCGCCACCACCACCATCACCACCACCACCACCACCACCACACTACCACCA CCACCATCACCATCATCATCACCACCACCACGACCACCACAACACTACCA CATCACCACCACCATCACCACCACCACCATCACCACCACTACCACCACAA TCACCACTACCACCATCGCCACCACTACTACCATCACCACCACCACCACC ATCACCACTACCACCACCACCACCACCACACTACCACATCACCACCACCA CCACCATTACCACCACCACCACCACCACTATCACCATCATCACCATCACC ACCATCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp2 NA18983.hp2 NA18994.hp2 NA18945.hp2 NA18983.hp2 NA18994.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	3	360	0.0083	307	c.27 others(318): Show c.2718_*2719insGTGATGGTGGTGATGGTGATGATGGTGATAGTGG TGGTGGTGGTGGTGGTAATGGTGGTGGTGGTGGTGATGTGGTAGTGTGGT GGTGGTGGTGGTGGTAGTGGTGATGGTGGTGGTGGTGGTGATGGTAGTAG TGGTGGCGATGGTGGTAGTGGTGATTGTGGTGGTAGTGGTGGTGATGGTG GTGGTGGTGATGGTGGTGGTGATGTGGTAGTGTTGTGGTGGTCGTGGTGG TGGTGATGATGATGGTGATGGTGGTGGTGGTAGTGTGGTGGTGGTGGTGG TGGTGGTGATGGTGGTGGTGGCG	TUBB2B	ENSG00000137285.11	transcript	ENST00000259818.8	protein_coding		2244		chr6	TogoVar

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Search Results (Total: 10000 hits)