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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
VPS16_chr20_2835745_2871732	2842868	A A	AGATAGAT others(409): Show AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATATATCTATCGATAGATAGATAGATGTATCTATCGATCGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATGTATCTATC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0331 a0001c0001t0001g0331	1	408	0.0025	416	c.53+ others(431): Show c.53+2076_53+2077insGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATATATCTATCGATAG ATAGATAGATGTATCTATCGATCGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGT ATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGAT AGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTAT CGATAGATAGATGTATCTATCGATAGATAGATAGAT		VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23					INFO_REALIGN_3_PRIME	chr20	TogoVar
XG_chrX_2747040_2821500	2773518	A A	AGAAGGAA others(409): Show AGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAG AAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAA GGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGG AAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAA GGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGG AAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAA GGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGG AGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAG AGAAGGAAGGAAGGAGC	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0239 a0001c0001t0002g0239	1	322	0.0031	416	c.104 others(433): Show c.104-1071_104-1070insAGAAGGAAGGAAGGAGAGAAGGAAGGAA GGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGG AGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAG AGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAG AAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAA GGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGG AAGGAAGGAGCGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAA GGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGG AAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAG		XG	ENSG00000124343.14	transcript	ENST00000644266.2	protein_coding	2/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
XG_chrX_2747040_2821500	2773534	A A	AGAAGGAA others(409): Show AGAAGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAG AGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAA GGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGG AAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAA GGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGG AAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAA GGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGG AGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAG CGAAGGAAGGAAGGAGC	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	322	0.0031	416	c.104 others(433): Show c.104-1164_104-1163insGGGAAGGAAGGAGAGAGGGAAGGAAGGA GAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGA GAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGA AGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAG GAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGA AGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAG GAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGA AGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAG GAGCGAAGGAAGGAAGGAGCGAAGGAAGGAAGGAGAGA		XG	ENSG00000124343.14	transcript	ENST00000644266.2	protein_coding	2/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
ZBTB34_chr9_126855639_126890878	126876166	C C	CCCCCTTC others(409): Show CCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCC TTCCCCCCTTCCCCCCTTCCCCCTTCCCCCGTTCCCCCTTCCCCCCTTCC CCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCATTCCCCCTTCCCCC TTCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCC CCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCT TCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCC CCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT CCCCCTTCACCCTTCCCCCTTCCTCCCTTTCCCCTTCCCCCCTTCCCCCC TTCCCCCTTCCCCCCTT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0227 a0001c0001t0004g0227	1	246	0.0041	416	c.-10 others(433): Show c.-10-3220_-10-3219insTTCCCCCCTTCCCCCTTCCCCCCTTCCC CCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCGTT CCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCC CCATTCCCCCTTCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCC CCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCC CTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTC CCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCC TTCCCCCTTCCCCCCTTCCCCCTTCACCCTTCCCCCTTCCTCCCTTTCCC CTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCC		ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr9	TogoVar
ZC3H12B_chrX_65029826_65512887	65450478	T T	TATATATG others(409): Show TATATATGTATATATGTACATATGTATATATATGTATATATGTACATATG TATATATATGTATATATGTATATATACATATGTATATATATGTACATATG TATATATATACATGTATACATATGTATACATGTATATATATACATATGTA TACATGTATATATGTATATATATACATGTATACATATGTATATATGTATA CATATGTATATATGTATATATGTATAAATATACATATGTATATATATGTA TATATGTATACATATGTATATATACATATGTATATATATGTATATATGTA TACATATGTATATATACATATGTATATATATGTATACATATGCATATATA CATATGTATATATATGTATATATGTATACATATGTATATATGCATATATA TACATATGTATATATGC	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA18962.hp1 NA19075.hp1 HG02083.hp1 NA18962.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0084 a0001c0001t0001g0098 a0001c0001t0001g0077 a0001c0001t0001g0084 a0001c0001t0001g0098	3	165	0.0182	416	c.-15 others(437): Show c.-156-38164_-156-38163insATGTATATATGTACATATGTATAT ATATGTATATATGTACATATGTATATATATGTATATATGTATATATACAT ATGTATATATATGTACATATGTATATATATACATGTATACATATGTATAC ATGTATATATATACATATGTATACATGTATATATGTATATATATACATGT ATACATATGTATATATGTATACATATGTATATATGTATATATGTATAAAT ATACATATGTATATATATGTATATATGTATACATATGTATATATACATAT GTATATATATGTATATATGTATACATATGTATATATACATATGTATATAT ATGTATACATATGCATATATACATATGTATATATATGTATATATGTATAC ATATGTATATATGCATATATATACATATGTATATATGCATAT		ZC3H12B	ENSG00000102053.13	transcript	ENST00000338957.5	protein_coding	5/9					INFO_REALIGN_3_PRIME	chrX	TogoVar
ZC3H12B_chrX_65029826_65512887	65450478	T T	TATATATG others(409): Show TATATATGTATATATGTACATATGTATATATATGTATATATGTACATATG TATATATATGTATATATGTATATATACATATGTATATATATGTACATATG TGTATATATACATGTATACATATGTATACATGTATATATATACATATGTA TACATGTATATATGTATATATATACATGTATACATATGTATATATGTATA CATATGTATATATGTATATATGTATAAATATACATATGTATATATATGTA TATATGTATACATATGTATATATACATATGTATATATATGTATATATGTA TACATATGTATATATACATATGTATATATATGTATACATATGCATATATA CATATGTATATATATGTATATATGTATACATATGTATATATGCATATATA TACATATGTATATATGC	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	165	0.0061	416	c.-15 others(437): Show c.-156-38164_-156-38163insATGTATATATGTACATATGTATAT ATATGTATATATGTACATATGTATATATATGTATATATGTATATATACAT ATGTATATATATGTACATATGTGTATATATACATGTATACATATGTATAC ATGTATATATATACATATGTATACATGTATATATGTATATATATACATGT ATACATATGTATATATGTATACATATGTATATATGTATATATGTATAAAT ATACATATGTATATATATGTATATATGTATACATATGTATATATACATAT GTATATATATGTATATATGTATACATATGTATATATACATATGTATATAT ATGTATACATATGCATATATACATATGTATATATATGTATATATGTATAC ATATGTATATATGCATATATATACATATGTATATATGCATAT		ZC3H12B	ENSG00000102053.13	transcript	ENST00000338957.5	protein_coding	5/9					INFO_REALIGN_3_PRIME	chrX	TogoVar
ZDHHC20_chr13_21367571_21464303	21377227	C C	CGATCTGA others(409): Show CGATCTGACTCTGCCCGACGTGACCTCCACCCCTAGTGCCTGTGATCTGA CTCTGCCCGACGTGACCTCCACCCCTAGTGCCTGTGATCTGACTGCCCGA CATGACCTCCACCCCTAGTGCCTGTGATCTGACTCTGCCCGACGTGACCT CCACCCCTAGTGCCTGTGATCTGACTCTGCCCGACGTGACCTCCACCCCT AGTGCCTGTGATCTGACTCTGCCCGACGTGACCTCCACCCCTAGTGCCTG TGATCTGACTCTGCCCGACGTGACCTCCACCCCTAGTGCCTGTGATCTGA CTGCCCGACATGACCTCCACCCCTAGTGCCTGCGATCTGACTCTGCCCGA CGTGACCTCCACCCCTAGTGCCTGTGATCTGACTCTGCCCGACGTGACCT CCACCCCTAGTGCCTGT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0032 a0001c0001t0035g0032	1	302	0.0033	416	c.41 others(431): Show c.41-573_*41-572insACAGGCACTAGGGGTGGAGGTCACGTCGGG CAGAGTCAGATCACAGGCACTAGGGGTGGAGGTCACGTCGGGCAGAGTCA GATCGCAGGCACTAGGGGTGGAGGTCATGTCGGGCAGTCAGATCACAGGC ACTAGGGGTGGAGGTCACGTCGGGCAGAGTCAGATCACAGGCACTAGGGG TGGAGGTCACGTCGGGCAGAGTCAGATCACAGGCACTAGGGGTGGAGGTC ACGTCGGGCAGAGTCAGATCACAGGCACTAGGGGTGGAGGTCACGTCGGG CAGAGTCAGATCACAGGCACTAGGGGTGGAGGTCATGTCGGGCAGTCAGA TCACAGGCACTAGGGGTGGAGGTCACGTCGGGCAGAGTCAGATCACAGGC ACTAGGGGTGGAGGTCACGTCGGGCAGAGTCAGATC		ZDHHC20	ENSG00000180776.17	transcript	ENST00000400590.8	protein_coding	12/12						chr13	TogoVar
ZNF667_chr19_56434329_56482345	56444530	T T	TCCACCCC others(409): Show TCCACCCCCATGATCCAATCACCTCCCACCAGACCCCACCTCCAACACTG AGGATTAAATTTCAACATGAGATTTGGTGAGAAATCCACCCCCATGATCC AATCACCTCCCACAGACCCCACCTCCAACACTGAGGATTAAATTTCAACA TGAGATTTGGTGAGAAACCCACCCCCATGATCCAATCACCTCCCACAGAC CCCACCTCCAACACTGAGGATTAAATTTCAACATGAGATTTGGTGAGAAA TCCACCCCCATGATCCAATCACCTCCCACAGACCCCACCTCCAACACTGA GGATTAAATTTCAACATGAGATTTGGTGAGAAATCCACCCCCATGATCCA ATCACCTCCCACAGACCCCACCTCCAACACTGAGGATTAAATTTCAACAT GAGATTTGGTGAGAAAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp2 HG02486.hp2 others(6): Show HG01884.hp1 HG01891.hp2 HG02486.hp2 HG02630.hp2 HG02647.hp2 HG02895.hp1 HG03209.hp1 HG06807.hp2 NA19030.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0005 a0003c0005t0008 a0003c0005t0020 others(1): Show a0003c0005t0005 a0003c0005t0008 a0003c0005t0020 a0003c0005t0021	a0003c0005t0005g0251 a0003c0005t0008g0022 a0003c0005t0008g0209 others(4): Show a0003c0005t0005g0251 a0003c0005t0008g0022 a0003c0005t0008g0209 a0003c0005t0008g0210 a0003c0005t0008g0212 a0003c0005t0020g0048 a0003c0005t0021g0211	9	362	0.0249	416	c.254 others(433): Show c.254-1790_254-1789insGTTTCTCACCAAATCTCATGTTGAAATT TAATCCTCAGTGTTGGAGGTGGGGTCTGTGGGAGGTGATTGGATCATGGG GGTGGATTTCTCACCAAATCTCATGTTGAAATTTAATCCTCAGTGTTGGA GGTGGGGTCTGTGGGAGGTGATTGGATCATGGGGGTGGATTTCTCACCAA ATCTCATGTTGAAATTTAATCCTCAGTGTTGGAGGTGGGGTCTGTGGGAG GTGATTGGATCATGGGGGTGGGTTTCTCACCAAATCTCATGTTGAAATTT AATCCTCAGTGTTGGAGGTGGGGTCTGTGGGAGGTGATTGGATCATGGGG GTGGATTTCTCACCAAATCTCATGTTGAAATTTAATCCTCAGTGTTGGAG GTGGGGTCTGGTGGGAGGTGATTGGATCATGGGGGTGG		ZNF667	ENSG00000198046.13	transcript	ENST00000504904.8	protein_coding	6/6						chr19	TogoVar
ZNF667_chr19_56434329_56482345	56444545	C C	TAATCACC others(409): Show TAATCACCTCCCACCAGACCCCACCTCCAACACTGAGGATTAAATTTCAA CATGAGATTTGGTGAGAAATCCACCCCCATGATCCAATCACCTCCCACAG ACCCCACCTCCAACACTGAGGATTAAATTTCAACATGAGATTTGGTGAGA AACCCACCCCCATGATCCAATCACCTCCCACAGACCCCACCTCCAACACT GAGGATTAAATTTCAACATGAGATTTGGTGAGAAATCCACCCCCATGATC CAATCACCTCCCACAGACCCCACCTCCAACACTGAGGATTAAATTTCAAC ATGAGATTTGGTGAGAAATCCACCCCCATGATCCAATCACCTCCCACAGA CCCCACCTCCAACACTGAGGATTAAATTTCAACATGAGATTTGGTGAGAA ACCCACCCCCATGATCC	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp1 HG01516.hp1 HG01517.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0005 a0003c0005t0005	a0003c0005t0005g0044 a0003c0005t0005g0044	2	362	0.0055	416	c.254 others(433): Show c.254-1804_254-1803insGATCATGGGGGTGGGTTTCTCACCAAAT CTCATGTTGAAATTTAATCCTCAGTGTTGGAGGTGGGGTCTGTGGGAGGT GATTGGATCATGGGGGTGGATTTCTCACCAAATCTCATGTTGAAATTTAA TCCTCAGTGTTGGAGGTGGGGTCTGTGGGAGGTGATTGGATCATGGGGGT GGATTTCTCACCAAATCTCATGTTGAAATTTAATCCTCAGTGTTGGAGGT GGGGTCTGTGGGAGGTGATTGGATCATGGGGGTGGGTTTCTCACCAAATC TCATGTTGAAATTTAATCCTCAGTGTTGGAGGTGGGGTCTGTGGGAGGTG ATTGGATCATGGGGGTGGATTTCTCACCAAATCTCATGTTGAAATTTAAT CCTCAGTGTTGGAGGTGGGGTCTGGTGGGAGGTGATTA		ZNF667	ENSG00000198046.13	transcript	ENST00000504904.8	protein_coding	6/6						chr19	TogoVar
ZSCAN32_chr16_3377085_3406004	3393202	T T	TTCTATAT others(409): Show TTCTATATATATAAATATATATATATTTCTATATATATAAATATATATAT TTATATATATAGAAATATATATATATTTATATATATATAAATATATATAT TTATATATATATAAATATATATATTTATATATATATAAATATATATATAT TTCTATATATATATAAATATATATATATTTCTATATATATAAATATATAT ATATATAAATATATATATAAATATATATTTATATATATATAAATATATAT ATATAAATATATATAAATATATATATATTTATATATATAAATATATATAT ATTTATATATATAAATAAATATATATTTATATATATAAATAAATATATAT TTATATATATAAATATATATATTTTTATATATATAAATATATATATTTTT ATATATATAAATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02630.hp2 HG01109.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0044 a0001c0001t0003g0044	2	400	0.0050	416	c.532 others(431): Show c.532+446_532+447insTATATATTTATATATATAAAAATATATATA TTTATATATATAAAAATATATATATTTATATATATAAATATATATTTATT TATATATATAAATATATATTTATTTATATATATAAATATATATATATTTA TATATATAAATATATATATATTTATATATATTTATATATATATATTTATA TATATATAAATATATATTTATATATATATTTATATATATATATATTTATA TATATAGAAATATATATATATTTATATATATATAGAAATATATATATATT TATATATATATAAATATATATATTTATATATATATAAATATATATATTTA TATATATATAAATATATATATATTTCTATATATATAAATATATATATTTA TATATATAGAAATATATATATATTTATATATATAGA		ZSCAN32	ENSG00000140987.21	transcript	ENST00000396852.9	protein_coding	3/6						chr16	TogoVar
ACSM2B_chr16_20531226_20581367	20566673	A A	ATATATAC others(410): Show ATATATACTATATATACTATATACTATATATAATATATACTATATATACT ATATATAGTATATACTATATATAATATATACTATATATACTATATATAGT ATATATACTATATATAGTATATATACTATATATAGTATATACAGTATATA CTATATATAGTATATATACTATATATAGTATATACAGTATATATAGTATA TACTATATATACTATATATAGTATATATAGTATATATTATATATAGTATA TAGTATATATAGTATATATATACTATATATAGTATATATAGTATATATAG TATATACTATATATAGTATATATAGTATATATTATATATAGTATATAGTA TATATAATATATACTATATATACTATATATAGTATATATACTATATATAG TATATATACTATATATAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0006 a0004c0005t0006	a0004c0005t0006g0087 a0004c0005t0006g0087	1	388	0.0026	417	c.-8- others(432): Show c.-8-1821_-8-1820insCTATATATAGTATATATACTATATATAGTA TATATACTATATATAGTATATATAGTATATATTATATATACTATATACTA TATATAATATATACTATATATACTATATATAGTATATACTATATATACTA TATATACTATATATAGTATATATATACTATATATACTATATACTATATAT AATATATACTATATATACTATATATAGTATATATAGTATATACTATATAT ACTGTATATACTATATATAGTATATATACTATATATAGTATATACTGTAT ATACTATATATAGTATATATACTATATATAGTATATATACTATATATAGT ATATATAGTATATATTATATATAGTATATACTATATATAGTATATATAGT ATATATTATATATAGTATATAGTATATATAGTATATA		ACSM2B	ENSG00000066813.14	transcript	ENST00000329697.10	protein_coding	1/13						chr16	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(410): Show AGGGGAAGAGGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGGAGGGGAGGG GGAGGAGGGAGGAGGGGAAGAGGGGAGGAGGGGAGGGGGGAGGAGGGGAG GGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGGAGGGGGGAGGAGGGGGG GAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGG GGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGG AGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAG GAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAA GGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGA GGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	1	352	0.0028	417	c.51 others(428): Show c.5165_*5166insCCCTCCCCCCTCCCCTCCTCCCCCGTCCCCTCCT CCCCGCCCTCCCCTCCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCCCT CCCCTTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCTCCCCCTTC CCTCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCCCCC TCCCCTCCTCCCCTCTCCCCCTCCCCCCTCTCCCCCCTCCCCTCCTCCCT CCTCCCCCCTCCCCTCCTCCCCCCTCCCCTCCTCCCCCCCTCCTCCCCCC TCCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCCCCTCCTCCCCCC TCCCCTCCTCCCCTCTTCCCCTCCTCCCTCCTCCCCCTCCCCTCCCCCCT CCCCTCCTCCCCCTCCCCTCCTCCCTCTTCCCC		ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding					4172		chr19	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(410): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAG GGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGG AGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGG GGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGG AGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAG GAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAA GGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGA GGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0043 a0001c0001t0010g0043	1	352	0.0028	417	c.51 others(428): Show c.5165_*5166insCCCTCCCCCCTCCCCTCCTCCCCCGTCCCCTCCT CCCCGCCCTCCCCTCCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCCCT CCCCTTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCTCCCCCTTC CCTCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCCCCC TCCCCTCCTCCCCTCTCCCCCTCCCCCCTCTCCCCCCTCCCCTCCTCCCT CCTCCCCCCTCCCCTCCTCCCCCCCTCCCCTCCTCCCCCCCTCCTCCCCC CTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCCCCTCCTCCCCCC TCCCCTCCTCCCTCTTCCCCTCCTCCCTCCTCCCCTCCCCCTCCCCCCTC CCCTCCTCCCCCCTCCCCTCCTCCCTCTTCCCC		ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding					4172		chr19	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(410): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGG AGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGG GGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGG AGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAG GAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAA GGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGA GGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	352	0.0028	417	c.51 others(428): Show c.5165_*5166insCCCTCCCCCCTCCCCTCCTCCCCCGTCCCCTCCT CCCCGCCCTCCCCTCCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCCCT CCCCTTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCTCCCCCTTC CCTCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCCCCC TCCCCTCCTCCCCTCTCCCCCTCCCCCCTCTCCCCCCTCCCCTCCTCCCT CCTCCCCCCTCCCCTCCTCCCCCCCTCCCCTCCTCCCCCCCTCCTCCCCC CTCCCCTCCTCCCTCCTCCCCCTCCCCTCCCCCCTCCCCTCCTCCCCCCT CCCCTCCTCCCTCTTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTC CCCTCCTCCCCCCTCCCCTCCTCCCTCTTCCCC		ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding					4172		chr19	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(410): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGG GAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGAGGAGGGAGGAGGGGAGGG GGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGG AGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAG GAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAA GGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGA GGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	352	0.0028	417	c.51 others(428): Show c.5165_*5166insCCCTCCCCCCTCCCCTCCTCCCCCGTCCCCTCCT CCCCGCCCTCCCCTCCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCCCT CCCCTTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCTCCCCCTTC CCTCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCCCCC TCCCCTCCTCCCCTCTCCCCCTCCCCCCTCTCCCCCCTCCCCTCCTCCCT CCTCCCCCTCCCCTCCTCCCCCCCTCCCCTCCTCCCCCCCTCCTCCCCCC TCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCCCCTCCTCCCCCCT CCCCTCCTCCCTCTTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTC CCCTCCTCCCCCCTCCCCTCCTCCCTCTTCCCC		ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding					4172		chr19	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(410): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGG GAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGG GGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGG AGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAG GAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAA GGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGA GGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	352	0.0028	417	c.51 others(428): Show c.5165_*5166insCCCTCCCCCCTCCCCTCCTCCCCCGTCCCCTCCT CCCCGCCCTCCCCTCCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCCCT CCCCTTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCTCCCCCTTC CCTCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCCCCC TCCCCTCCTCCCCTCTCCCCCTCCCCCCTCTCCCCCTCCCCTCCTCCCTC CTCCCCCCTCCCCTCCTCCCCCCCTCCCCTCCTCCCCCCCTCCTCCCCCC TCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCCCCTCCTCCCCCCT CCCCTCCTCCCTCTTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTC CCCTCCTCCCCCCTCCCCTCCTCCCTCTTCCCC		ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding					4172		chr19	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(410): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGG GAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGG GGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAG GAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGA GGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGA AGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGA GGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0212 a0001c0001t0006g0212	1	352	0.0028	417	c.51 others(428): Show c.5165_*5166insCCCTCCCCCCTCCCCTCCTCCCCCGTCCCCTCCT CCCCGCCCTCCCCTCCTCCCCCCTCCCCCTCCCTTCCCCTCCTCCCCCTC CCCTTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCTCCCCCTTCC CTCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCCCCCT CCCCTCCTCCCCTCTCCCCCTCCCCCCTCTCCCCCCTCCCCTCCTCCCTC CTCCCCCCTCCCCTCCTCCCCCCCTCCCCTCCTCCCCCCCTCCTCCCCCC TCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCCCCTCCTCCCCCCT CCCCTCCTCCCTCTTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTC CCCTCCTCCCCCCTCCCCTCCTCCCTCTTCCCC		ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding					4172		chr19	TogoVar
ADGRG2_chrX_18984307_19127468	19074544	T T	TTTCTTCT others(410): Show TTTCTTCTTCTTCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTCCTTCTCCTTCTCCTTCTTCTTCTCCTTCTTCCTTCTTCTTCCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCC	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	188	0.0053	417	c.-1- others(432): Show c.-1-5710_-1-5709insGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAAGAA GAAGGAAGAAGGAGAAGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAG AAGGAGAAGGAGAAGGAGAAGGAGAAGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAA GGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG AGAAGGAGAAGGAGAAGGAGAAGAAGAAGAAGAAGAA		ADGRG2	ENSG00000173698.18	transcript	ENST00000379869.8	protein_coding	2/28						chrX	TogoVar
AGMO_chr7_15195317_15567015	15529638	A A	ATATAGTA others(410): Show ATATAGTATATATATTCTATATACAGAATATATATAGTATATATATTCTA TATACAGAATATATATAGTATATATATTCTATATACGGAATATATATACT ATATATATTCTATATACGGAATATATATACTATATATATTCTATATACAG AATATATATAGTATATATATTCTATATACAGAATATATATAGTATATATA TTCTGTATACAGAATATATAGTATATATATTCTGTATACAGAATATATAT AGTATATATATTCTGTATACAGAATATATATACTATATATATTCTGTATA CAGAATATATATACTATATATATTCTGTATACAGAATATATATACTATAT ATATTCTGTATATAGAATATATATAGTATATATATTCTGTATATAGAATA TATATACTATATTAATTC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	236	0.0042	417	c.409 others(436): Show c.409+15133_409+15134insGAATTAATATAGTATATATATTCTAT ATACAGAATATATATACTATATATATTCTATATACAGAATATATATAGTA TATATATTCTGTATACAGAATATATATAGTATATATATTCTGTATACAGA ATATATATAGTATATATATTCTGTATACAGAATATATATACTATATATAT TCTGTATACAGAATATATATACTATATATTCTGTATACAGAATATATATA CTATATATATTCTGTATATAGAATATATATACTATATATATTCTGTATAT AGAATATATATAGTATATATATTCCGTATATAGAATATATATAGTATATA TATTCCGTATATAGAATATATATACTATATATATTCTGTATATAGAATAT ATATACTATATATATTCTGTATATAGAATATATATACTATA		AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12						chr7	TogoVar
AHRR_chr5_316714_443285	318187	A A	ACCCTGCA others(410): Show ACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCC CACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCAC CTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCT CCATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCACCTCCCCCCTCC CTTCATCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCC CTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACC TCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCA CCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCGCAC CCTGCACCTCCCACCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0143 a0001c0001t0048g0143	1	268	0.0037	417	c.-36 others(428): Show c.-3643_-3642insCCCTGCACCTCCCCCATCCTTCACCTCCCCTCTC ACCCTCCACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTC CCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTT ACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAATCCT TCACCTCCCCCCTCCCTTCATCTCCCCCACTCACCCTCCACCTCCCCCCC ACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTC CCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACC TCCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCC ACCTCCCCCCCGCACCCTGCACCTCCCACCCTT		AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding					3526		chr5	TogoVar
AHRR_chr5_316714_443285	318194	C C	CACCTCCC others(410): Show CACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCCCACTCA CCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCG CCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCATCT GCCCCCAACCCTGCACCTCCCCCAATCCTTCACCTCCCCCCTCCCTTCAT CTCCCCCCTCACCCTCCACCTCCCCCCCGCACCCTGCACCTCCCACCCTT ACCCTGCACCTCCCCCCATCTTTTACCTCCCTCCCACCCTCCATCTCCCC CAACCCTGCACCTCCCCCATCCTTCACCTCCCCCACTCACCCTCCACCTC CCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTG CACCTCCCCCCATCCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG03453.hp2 HG02109.hp1 HG03453.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0007 a0004c0003t0033 a0004c0003t0007 a0004c0003t0033	a0004c0003t0007g0237 a0004c0003t0033g0242 a0004c0003t0007g0237 a0004c0003t0033g0242	2	268	0.0075	417	c.-36 others(428): Show c.-3636_-3635insACCTCCCCCATCCTTCACCTCCCCTCTCACCCTC CACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTC CCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCC CCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCACCT CCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCGCACCCT GCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCTCCC ACCCTCCATCTCCCCCAACCCTGCACCTCCCCCATCCTTCACCTCCCCCA CTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCT CCCGCCCTCACCCTGCACCTCCCCCCATCCTTT		AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding					3519		chr5	TogoVar
ANKLE2_chr12_132720503_132766832	132729611	T T	TGAGGGGA others(410): Show TGAGGGGAGGGGGAGGAGGAGGTGAGGGGAGTGGAAGGGTGGGAGGGGAG GGGGAGGTGAGGGGAGGGGGAGGTGAGGGGAGTGGACGGGTGGGAGGGGG AGGGGGAGGGGAGGGTGGGAGGGGGAGGGGAGGGGAAGGTGAGGGGAGGA GGAGGAGAGGGGAGTGGATGGGTGGGAGGGGAGGGGGAGGGGGAGGGGAG GGGAGTCGACGAGTGGGAGGGGAGGGGAGGGGGGGTGGGAGGGGAGGGGG AGGGTGGGAGGGGAGGGGGAGGGGAGGATGGGAGGGGAGGGGGAGGGGAG GGGAAGGTGAGAGAAGGGGGAGGGGAAGGCGAGGGGAAGGCGAGGGGAGG GGGAGGGGAAGGCGAGGGGAGGGGGAGGGGGGAGGCGAGGGGAGGGGGAG GGGAGGGGAGGGGGAGGG	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0019 a0004c0004t0019	a0004c0004t0019g0153 a0004c0004t0019g0153	1	350	0.0029	417	c.248 others(432): Show c.2483+67_2483+68insCCCTCCCCCTCCCCTCCCCTCCCCCTCCCC TCGCCTCCCCCCTCCCCCTCCCCTCGCCTTCCCCTCCCCCTCCCCTCGCC TTCCCCTCGCCTTCCCCTCCCCCTTCTCTCACCTTCCCCTCCCCTCCCCC TCCCCTCCCATCCTCCCCTCCCCCTCCCCTCCCACCCTCCCCCTCCCCTC CCACCCCCCCTCCCCTCCCCTCCCACTCGTCGACTCCCCTCCCCTCCCCC TCCCCCTCCCCTCCCACCCATCCACTCCCCTCTCCTCCTCCTCCCCTCAC CTTCCCCTCCCCTCCCCCTCCCACCCTCCCCTCCCCCTCCCCCTCCCACC CGTCCACTCCCCTCACCTCCCCCTCCCCTCACCTCCCCCTCCCCTCCCAC CCTTCCACTCCCCTCACCTCCTCCTCCCCCTCCCCTC		ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12						chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132729611	T T	TGAGGGGA others(410): Show TGAGGGGAGGGGGAGGAGGAGGTGAGGGGAGTGGAAGGGTGGGAGGGGAG GGGGGAGGTGAGGGGAGGGGGAGGTGAGGGGAGTGGACGGGTGGGAGGGG GAGGGGGAGGGGAGGGTGGGAGGGGGAGGGGAGGGGAAGGTGAGGGGAGG AGGAGGAGAGGGGAGTGGATGGGTGGGAGGGGAGGGGGAGGGGGAGGGGA GGGGAGTCGACGAGTGGGAGGGGAGGGGAGGGGGGGTGGGAGGGGAGGGG GAGGGTGGGAGGGGAGGGGGAGGGGAGGATGGGAGGGGAGGGGGAGGGGA GGGGAAGGTGAGAGAAGGGGGAGGGGAAGGCGAGGGGAAGGCGAGGGGAG GGGGAGGGGAAGGCGAGGGGAGGGGGAGGGGGAGGCGAGGGGAGGGGGAG GGGAGGGGAGGGGGAGGG	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0165 a0004c0004t0001g0165	1	350	0.0029	417	c.248 others(432): Show c.2483+67_2483+68insCCCTCCCCCTCCCCTCCCCTCCCCCTCCCC TCGCCTCCCCCTCCCCCTCCCCTCGCCTTCCCCTCCCCCTCCCCTCGCCT TCCCCTCGCCTTCCCCTCCCCCTTCTCTCACCTTCCCCTCCCCTCCCCCT CCCCTCCCATCCTCCCCTCCCCCTCCCCTCCCACCCTCCCCCTCCCCTCC CACCCCCCCTCCCCTCCCCTCCCACTCGTCGACTCCCCTCCCCTCCCCCT CCCCCTCCCCTCCCACCCATCCACTCCCCTCTCCTCCTCCTCCCCTCACC TTCCCCTCCCCTCCCCCTCCCACCCTCCCCTCCCCCTCCCCCTCCCACCC GTCCACTCCCCTCACCTCCCCCTCCCCTCACCTCCCCCCTCCCCTCCCAC CCTTCCACTCCCCTCACCTCCTCCTCCCCCTCCCCTC		ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12						chr12	TogoVar
ARFGEF2_chr20_48916711_49041693	48959479	C C	CTCTCCCT others(410): Show CTCTCCCTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCCTCC CTCCCTCCCTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCATCCCTCCCT GCTTCCTTCCCTCCGTCCCTCCTTCCCTCCCTCCCTCCTTTCTTCTCTCC TTCCCTCCCTCCCTCCCTCCATCCCTCCCTGCTTCCTTCCCTCCGTCCCT CCTTCCCTCCCTCCCTCCTTTCTTCTCTCCTTCCCTCCCTCCCTCCTTCC TTCCCTCCTTCCCTCCCTCCCTTCTTCCTTCCCTTCTTCCTTTCCTCCTT CCTTTTCTCCTTCCCTCCCTCCCTCCTTCCCTTCTTCCTTCCCTCCCTCC CTCCTTCCTTCCTTCCTTCTTCCCTTTCTCCTTCCCTCCTTCCCTCCCTC CCTCACTCCCTCCCTCCT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02615.hp2 HG02723.hp1 others(2): Show HG01243.hp2 HG02615.hp2 HG02723.hp1 HG02976.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0220 a0001c0001t0002g0244 a0001c0001t0002g0277 others(2): Show a0001c0001t0002g0220 a0001c0001t0002g0244 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279	5	352	0.0142	417	c.839 others(434): Show c.839-4348_839-4347insCCCTCCTTCCCTCCCTCCCTCCCTCCCT CCCTCCTTCCTTCCCTCCCTCCCTCCCTCCTTCCTTCCCTCCCTCCCTCC CTCCCTCCATCCCTCCCTGCTTCCTTCCCTCCGTCCCTCCTTCCCTCCCT CCCTCCTTTCTTCTCTCCTTCCCTCCCTCCCTCCCTCCATCCCTCCCTGC TTCCTTCCCTCCGTCCCTCCTTCCCTCCCTCCCTCCTTTCTTCTCTCCTT CCCTCCCTCCCTCCTTCCTTCCCTCCTTCCCTCCCTCCCTTCTTCCTTCC CTTCTTCCTTTCCTCCTTCCTTTTCTCCTTCCCTCCCTCCCTCCTTCCCT TCTTCCTTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCTTCCCTTTCTCCT TCCCTCCTTCCCTCCCTCCCTCACTCCCTCCCTCCTTCT		ARFGEF2	ENSG00000124198.10	transcript	ENST00000371917.5	protein_coding	6/38					INFO_REALIGN_3_PRIME	chr20	TogoVar
ARMCX4_chrX_101480456_101500807	101494029	G G	GGGGCTGA others(410): Show GGGGCTGAGGCTGGGGCTGGGGTTGGGGCTGGGGCTGGGGCTGAGGCTGA GGCTGGGGCTGAGGCTGGGGCTGGCTGGGCTGGGGCTGAGGCTGGAGCTG GGACTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGG GCTGGGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGGC TGGGACTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGTTG GGGCTGGGACTGAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTAGG GCTGAGGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGC TCGGGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTG AGGCTGGGGCTGAGGCTC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18976.hp1 NA18976.hp1	a0055 a0055	a0055c0032 a0055c0032	a0055c0032t0002 a0055c0032t0002	a0055c0032t0002g0035 a0055c0032t0002g0035	1	326	0.0031	417	c.546 others(426): Show c.5461_5462insTTGGGGCTGGGGCTGGGGCTGAGGCTGAGGCTGGGG CTGAGGCTGGGGCTGGCTGGGCTGGGGCTGAGGCTGGAGCTGGGACTGAG GCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGC TGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGACTG AGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGTTGGGGCTGGG ACTGAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTAGGGCTGAGGC TGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTCGGGCTG AGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGG GCTGAGGCTCGGGCTGAGGCTGGGGCTGGGG	p.Gly others(432): Show p.Gly1820_Ala1821insValGlyAlaGlyAlaGlyAlaGluAlaGlu AlaGlyAlaGluAlaGlyAlaGlyTrpAlaGlyAlaGluAlaGlyAlaGl yThrGluAlaGlyAlaGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGlyA laGlyAlaGlyAlaGlyThrGluAlaGlyAlaGlyAlaGluAlaGlyAla GlyThrGluAlaGlyAlaGlyThrGluAlaGlyAlaGlyAlaGluValGl yAlaGlyThrGluAlaGlyAlaArgAlaGlyAlaGluAlaGlyAlaArgA laGluAlaGluValGlyAlaGlyAlaGlyAlaGluAlaGlyAlaGluAla ArgAlaGluAlaGlyAlaGlyAlaGluAlaGlyAlaGlyAlaGlyAlaGl uAlaGlyAlaGluAlaArgAlaGluAlaGlyAlaGly	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5973/7729	5462/6873	1821/2290		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP10B_chr5_160558120_160857211	160654076	C C	CATATATA others(410): Show CATATATAAATATATGTTGTATATACGTATACATATATAAATATATGTTG TATATACGTATATACATATATAAATATATGTTGTATATACGTATATACAT ATATAAATATATGTTGTATATACGTATATACTATATATGTTGTATATACG TATATACAACATAAATATATGTTGTATATACGTATATACAACATAAATAT ATGTTGTATATACGTATATAGAACATAAATATATGTTGTATATACGTATA TACATATATAAATATATGTTGTATATACGTATATACATATATAAATATAT GTTGTATATACGTATATACATATATAAATATATGTTGTATATACGTATAT ACATATATAAATATATGTTGTATATACGTATATACATATAAATATATGTT GTATATACATATATACAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03041.hp1 HG02451.hp2 HG03041.hp1	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0004 a0007c0015t0004	a0007c0015t0004g0176 a0007c0015t0004g0187 a0007c0015t0004g0176 a0007c0015t0004g0187	2	236	0.0085	417	c.676 others(434): Show c.676-4821_676-4820insATGTATATATGTATATACAACATATATT TATATGTATATACGTATATACAACATATATTTATATATGTATATACGTAT ATACAACATATATTTATATATGTATATACGTATATACAACATATATTTAT ATATGTATATACGTATATACAACATATATTTATATATGTATATACGTATA TACAACATATATTTATGTTCTATATACGTATATACAACATATATTTATGT TGTATATACGTATATACAACATATATTTATGTTGTATATACGTATATACA ACATATATAGTATATACGTATATACAACATATATTTATATATGTATATAC GTATATACAACATATATTTATATATGTATATACGTATATACAACATATAT TTATATATGTATACGTATATACAACATATATTTATATAT		ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25						chr5	TogoVar
B3GNTL1_chr17_82937149_83056770	82971659	A A	ACAGGGGC others(410): Show ACAGGGGCCAGAAGGACCTGGTACTGACCACACCACACTCATAGGGGCCA GAAGGACCCGGTACTGACCACACCACACCACAGGGGCCAGAAGGACCCGG TACTGACCACACCACACCACAGGGGCCAGAAGGACCTGGTACTGACCACA CCACACCACAGGGGCCAGAAGGACCTGGTACTGACCACACCACACCACAG GGGCTAGAAGGACCTGGTGCCGACCACACCACACCATGGGCCAGAAGGAC CTGGTGCCGACCACACCACACCACAGGGGCTAGAAGGACCTGGTGCCGAC ACACCACACCAGGGGCTAGAAGGACCTGGTGCCGACACACCACACCAGGG GCCAGAAGGACCTGGTGCCGACCACACCACACCACGGGCCAGAAGGACCT GGAGCCGACACACCACAC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0002 a0001c0004t0001g0002	2	266	0.0075	417	c.460 others(434): Show c.460-5914_460-5913insGTGTGGTGTGTCGGCTCCAGGTCCTTCT GGCCCGTGGTGTGGTGTGGTCGGCACCAGGTCCTTCTGGCCCCTGGTGTG GTGTGTCGGCACCAGGTCCTTCTAGCCCCTGGTGTGGTGTGTCGGCACCA GGTCCTTCTAGCCCCTGTGGTGTGGTGTGGTCGGCACCAGGTCCTTCTGG CCCATGGTGTGGTGTGGTCGGCACCAGGTCCTTCTAGCCCCTGTGGTGTG GTGTGGTCAGTACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCAGT ACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCAGTACCGGGTCCTT CTGGCCCCTGTGGTGTGGTGTGGTCAGTACCGGGTCCTTCTGGCCCCTAT GAGTGTGGTGTGGTCAGTACCAGGTCCTTCTGGCCCCTG		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12						chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82971698	A A	ACAGGGGC others(410): Show ACAGGGGCCAGAAGGACCTGGTACTGACCACACCACACTCATAGGGGCCA GAAGGACCCGGTACTGACCACACCACACCACAGGGGCCAGAAGGACCCGG TACTGACCACACCACACCACAGGGGCCAGAAGGACCTGGTACTGACCACA CCACACCACAGGGGCCAGAAGGACCTGGTACTGACCACACCACACCACAG GGGCTAGAAGGACCTGGTGCCGACCACACCACACCATGGGCCAGAAGGAC CTGGTGCCGACCACACCACACCACAGGGGCTAGAAGGACCTGGTGCCGAC ACACCACACCAGGGGCTAGAAGGACCTGGTGCCGACACACCACACCAGGG GCCAGAAGGACCTGGTGCCGACCACACCACACCACGGGCCAGAAGGACCT GGAGCCGACACACCACAC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG03130.hp1 others(1): Show HG01167.hp2 HG01169.hp1 HG03130.hp1 HG03195.hp2	a0001 a0003 a0001 a0003	a0001c0013 a0003c0024 a0001c0013 a0003c0024	a0001c0013t0012 a0003c0024t0010 a0001c0013t0012 a0003c0024t0010	a0001c0013t0012g0001 a0001c0013t0012g0013 a0003c0024t0010g0151 a0001c0013t0012g0001 a0001c0013t0012g0013 a0003c0024t0010g0151	4	266	0.0150	417	c.460 others(434): Show c.460-5953_460-5952insGTGTGGTGTGTCGGCTCCAGGTCCTTCT GGCCCGTGGTGTGGTGTGGTCGGCACCAGGTCCTTCTGGCCCCTGGTGTG GTGTGTCGGCACCAGGTCCTTCTAGCCCCTGGTGTGGTGTGTCGGCACCA GGTCCTTCTAGCCCCTGTGGTGTGGTGTGGTCGGCACCAGGTCCTTCTGG CCCATGGTGTGGTGTGGTCGGCACCAGGTCCTTCTAGCCCCTGTGGTGTG GTGTGGTCAGTACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCAGT ACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCAGTACCGGGTCCTT CTGGCCCCTGTGGTGTGGTGTGGTCAGTACCGGGTCCTTCTGGCCCCTAT GAGTGTGGTGTGGTCAGTACCAGGTCCTTCTGGCCCCTG		B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12						chr17	TogoVar
C17orf67_chr17_56786913_56838920	56792825	G G	GTGATGGT others(410): Show GTGATGGTGATGATGGTGGTGATGGTGGTGGTGGTGATGGTGATGGTGGT GATGGTGGTGGTGATGGTGGTGATGGTGGTGGTGATGGTGATGATGGTGG TGATGGTGATGATGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGATG GTGGTGATGGTGGTGGTGGTGGTGATGGTGATGATGGTGATGGTGGTGGT GATGGTGATGATGGTGGTGATGGTGGTGGTGATGGTGGTGATGGTGGTGG TGATGATGGTGGTGATGGTGATGATGGTGGTGATGGTGGTGGTGGTGATG GTGATGATGGTGGTGATGGTAGTGGTGGTGGTGATGGTGATGATGATGGT GGTGATGGTAGTGGTGATGGTGATGATGGTGGTGATGGTGATGATGGTGG TGATGGTGGTGATGGTGA	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	292	0.0034	417	c.21 others(432): Show c.21-474_*21-473insTCACCATCACCACCATCACCACCATCATCA CCATCACCACCATCATCACCATCACCACTACCATCACCACCATCATCATC ACCATCACCACCACCACTACCATCACCACCATCATCACCATCACCACCAC CACCATCACCACCATCATCACCATCACCACCATCATCACCACCACCATCA CCACCATCACCACCACCATCACCACCATCATCACCATCACCACCACCATC ACCATCATCACCATCACCACCACCACCACCATCACCACCATCACCACCAC CACCACCACCATCACCATCACCACCATCATCACCATCACCACCATCATCA CCATCACCACCACCATCACCACCATCACCACCACCATCACCACCATCACC ATCACCACCACCACCATCACCACCATCATCACCATCA		C17orf67	ENSG00000214226.9	transcript	ENST00000397861.7	protein_coding	7/7						chr17	TogoVar
CASP8_chr2_201255536_201292709	201284695	G G	GGAGACGG others(410): Show GGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAG AGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGG AGACGGGGAGAGGGAGAGGGAGACGGGAGACGGGGAGAGGGAGAGGGAGA CGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGG AGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAC GGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGG AGAGGGAGACGGGGAGAGGGAGAGGGAGGCGGGGAGAGGGAGAGGGAGAC GGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGAGAGGGAGA GGGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0258 a0001c0001t0005g0258	1	386	0.0026	417	c.803 others(432): Show c.803-120_803-119insAGACGGGGAGAGGGAGAGGGAGAGGGAGAC GGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAG ACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGAGACG GGGAGAGGGAGAGGGAGACGGGAGACGGGGAGAGGGAGAGGGAGACGGGG AGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGG GGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAG AGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGGCGG GGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAG AGGGAGACGAGAGGGAGAGGGAGAGGGAGAGGGAGAG		CASP8	ENSG00000064012.24	transcript	ENST00000673742.1	protein_coding	7/8					INFO_REALIGN_3_PRIME	chr2	TogoVar
CCDC63_chr12_110841987_110912535	110905926	A A	ATATATTA others(410): Show ATATATTATATATAATATATATTATATATAATATATATTATATTATATAA TATATATTATATATAATATATATTATATATAATATAATATATATTATATA TAATATATATTATATAATATAATATATATTATATATAATATATATTATAT TATATATAATATATATTATATATAATATATATTATATATAATATATATTA TATAAAATATATATTATATTATATATAATATATATTATATTATATATAAA ATATATTATATAAAATATATATTATATTATATATAATATATATTATATAA AATATATATTATATTATATATAATATATATTATATAAAATATATATTATA TTATATAATATATATTATATAAAATATATATTATATTATATATAATATAT ATTATATAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0173 a0002c0003t0001g0173	1	288	0.0035	417	c.154 others(436): Show c.1546+1146_1546+1147insTAATATATATTATATATAATATATAT TATATTATATAATATATATTATATATAATATATATTATATATAATATAAT ATATATTATATATAATATATATTATATAATATAATATATATTATATATAA TATATATTATATTATATATAATATATATTATATATAATATATATTATATA TAATATATATTATATAAAATATATATTATATTATATATAATATATATTAT ATTATATATAAAATATATTATATAAAATATATATTATATTATATATAATA TATATTATATAAAATATATATTATATTATATATAATATATATTATATAAA ATATATATTATATTATATAATATATATTATATAAAATATATATTATATTA TATATAATATATATTATATAAAATATATATTATATTATATA		CCDC63	ENSG00000173093.13	transcript	ENST00000308208.10	protein_coding	11/11					INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC88A_chr2_55282842_55424856	55297381	A A	AAATATAT others(410): Show AAATATATAATATATATTATATATAAATATATATAATATATATTATATAT AAATATATAATATATATAATATATATTATATATTATATATAAATATATAT AATATATATTATATAATATATATTATATATAAATATATATAATATATATT ATATAATATATATTATATATAAATATATATAATATATAATATATATTATA TATAAATATATATAATATATAATATATATTATATATAAATATATATAATA TATAATATATATTATATATAAATATATATAATATATAATATATATTATAT ATAAATATATATAATATATAATATATATTATATATAAATATATATAATAT ATAATATATATTATATATAAATATATATAATATATAATATATATTATATA TAAATATATATAATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0011 a0001c0002t0006g0011	1	316	0.0032	417	c.482 others(434): Show c.4826-859_4826-858insATATATTATATATATTTATATATAATAT ATATTATATATTATATATATTTATATATAATATATATTATATATTATATA TATTTATATATAATATATATTATATATTATATATATTTATATATAATATA TATTATATATTATATATATTTATATATAATATATATTATATATTATATAT ATTTATATATAATATATATTATATATTATATATATTTATATATAATATAT ATTATATATTATATATATTTATATATAATATATATTATATAATATATATT ATATATATTTATATATAATATATATTATATAATATATATTATATATATTT ATATATAATATATAATATATATTATATATATTATATATTTATATATAATA TATATTATATATATTTATATATAATATATATTATATATT		CCDC88A	ENSG00000115355.18	transcript	ENST00000436346.7	protein_coding	29/32						chr2	TogoVar
CD300A_chr17_74461634_74489794	74482697	C C	CCTTCCTT others(410): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCTTCCTTTCTTTCTTCTTCTTTCTTTCTTTCTTTCTTTCTT TCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0248 a0002c0003t0004g0248	1	424	0.0024	417	c.774 others(432): Show c.774+867_774+868insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCTTCCTTTCTTTCTTCTTCTTTCTT TCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT		CD300A	ENSG00000167851.15	transcript	ENST00000360141.8	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr17	TogoVar
CDH23_chr10_71391920_71820947	71420491	A A	ATGATGAT others(410): Show ATGATGATGGTGATAGTGATGATGATGGTGATAGTGATGATGATGGTAAT GGTGATGGTGATGATGATGATGGTGATGGTAATGGTGATGATGATGATGA TGATGGTGATGGTAATGGTGATGGTGATGATGATGATGATGGTGATGATG ATGGTGATGATGATGGTGATGATGATGGTGATGGTGATGATGATGATGAT GGTGATGGTAATGGTGATGATGATGATGATGGTGATGATGGTGATGGTGA TGATGATGATGGTGATGGTAATGGTGATGGTGATGATGATGATGGTGATG ATGATGGTGATGGTGATGATGATGATGGTGATGGTAATGGTGATGGTGAT GATGATGGTGATGATGATGGTGATGGTGATGGTAATGGTGATGGTGATGA TGATTGTGATGATGATGG	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0105 a0105	a0105c0133 a0105c0133	a0105c0133t0007 a0105c0133t0007	a0105c0133t0007g0189 a0105c0133t0007g0189	1	196	0.0051	417	c.-5- others(434): Show c.-5-19331_-5-19330insATGGTGATAGTGATGATGATGGTGATAG TGATGATGATGGTAATGGTGATGGTGATGATGATGATGGTGATGGTAATG GTGATGATGATGATGATGATGGTGATGGTAATGGTGATGGTGATGATGAT GATGATGGTGATGATGATGGTGATGATGATGGTGATGATGATGGTGATGG TGATGATGATGATGATGGTGATGGTAATGGTGATGATGATGATGATGGTG ATGATGGTGATGGTGATGATGATGATGGTGATGGTAATGGTGATGGTGAT GATGATGATGGTGATGATGATGGTGATGGTGATGATGATGATGGTGATGG TAATGGTGATGGTGATGATGATGGTGATGATGATGGTGATGGTGATGGTA ATGGTGATGGTGATGATGATTGTGATGATGATGGTGATG		CDH23	ENSG00000107736.22	transcript	ENST00000224721.12	protein_coding	1/69					INFO_REALIGN_3_PRIME	chr10	TogoVar
CENPM_chr22_41933737_41952152	41939896	A A	AAGAAAGA others(410): Show AAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAA GAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAGAAAGAAAGAGA AAGAAAGAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAAA GAGAAAGAAAGAAAGAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAAAGA AAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAGAAA GAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAA GAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGA AAGAAAGAAAAAAGAAAGAAAGAAAGAAAGAAAAGGAAAGAAAGAAAGAG AAAGAAAGAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0162 a0001c0002t0002g0162	1	258	0.0039	417	c.403 others(432): Show c.403-701_403-700insCTTTCTTTCTCTTTCTTTCTCTTTCTTTCT TTCCTTTTCTTTCTTTCTTTCTTTCTTTTTTCTTTCTTTCTTTCTTTCTT TCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTC TTTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTCTTTCTCTTTCTT TCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTC TTTCTTTCTCTTTCTTTCTTTCTCTTTCTTTCTTTCTCTTTCTTTCTTTC TCTTTCTTTCTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCTCTTTCTTTC TCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTC TTTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCT		CENPM	ENSG00000100162.15	transcript	ENST00000215980.10	protein_coding	5/5						chr22	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(410): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTT CCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCC CCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTC CTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTC CCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTT CCCCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCC TTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCT CCCTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	354	0.0028	417	c.69 others(428): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCT CCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTC CCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTC CTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTC CCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCT CCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCC TTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCT CTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC		CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding					4830		chr9	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(410): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTT CCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCC CCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTC CTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTC CCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTT TCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCC TTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCT CCCTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	354	0.0028	417	c.69 others(428): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCT CCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTC CCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTC CTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTC CCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCT CCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCC TTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCT CTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC		CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding					4830		chr9	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(410): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC CTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCC CCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCT CCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCT CCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCC TCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTC CTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCC TTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCT CCCTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp1 NA18975.hp2 NA18982.hp2 others(3): Show NA18947.hp1 NA18975.hp2 NA18982.hp2 NA19000.hp1 NA19000.hp2 NA19070.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0001 a0001c0002t0001g0005 a0001c0002t0001g0020 others(3): Show a0001c0002t0001g0001 a0001c0002t0001g0005 a0001c0002t0001g0020 a0001c0002t0001g0029 a0001c0002t0001g0056 a0001c0002t0003g0001	6	354	0.0170	417	c.69 others(428): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTT CCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCC CCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTC CTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTC CCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTT TCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCC TTCCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCT CTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC		CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding					4830		chr9	TogoVar
CFAP61_chr20_20047532_20365698	20296130	C C	CCTTCCCT others(410): Show CCTTCCCTTCCTTCCTTCTCTCCTTCCTTCCTTCCCTCCCTCCTTCCCTT CCTTCCTTCTCTCCTTCCTTCCCTTCCTTCCTTCTCTCCTTCCTTCCCTT CCTTCCTTCTCTCCTTCCTTCCCTTCCTTCCTTCTCTCCTTCCTTCCCTT CCTTCCTTCTCTCCTTCCTTCCCTTCCTTCCTTCTCTCCTTCCTTCCCTT CCTTCCTTCTCTCCTTCCTTCCCTTCCTTCCTTCTCTCCTTCCTTCCCTT GCTTCCTTTCTTCCTTCCTTTGCTTCCTTGCTTCCTTCTTTCCTTTCTTC ATCCCTCCCTCCCTCCTTCCTTCCTTTCCTTCCTTCCCTCTATCCTTCCT TCCTTCCTTTCTTTCTCCCTCCCTTCCTTCCCTTCCTTCCTTCCCTCTTT TCCTTCCATCTTTCCTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp2 HG00741.hp1 others(38): Show HG00423.hp2 HG00558.hp2 HG00741.hp1 HG00741.hp2 HG01123.hp2 HG01256.hp1 HG01261.hp2 HG01433.hp1 HG01496.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01975.hp2 HG02056.hp2 HG02257.hp1 HG02280.hp1 HG02300.hp1 HG02602.hp1 HG02735.hp1 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG03209.hp2 HG03471.hp2 HG03942.hp1 HG04228.hp1 NA18906.hp2 NA18942.hp1 NA18943.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18964.hp2 NA18970.hp2 NA18971.hp2 NA18981.hp1 NA19007.hp2 NA19030.hp1 NA19070.hp2 NA19090.hp2	a0001 a0002 a0007 others(4): Show a0001 a0002 a0007 a0008 a0010 a0021 a0023	a0001c0001 a0001c0003 a0001c0006 others(6): Show a0001c0001 a0001c0003 a0001c0006 a0002c0002 a0007c0010 a0008c0017 a0010c0016 a0021c0041 a0023c0044	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0003t0001 a0001c0006t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0007 a0007c0010t0003 a0008c0017t0002 a0010c0016t0002 a0021c0041t0001 a0023c0044t0001	a0001c0001t0001g0028 a0001c0001t0001g0082 a0001c0001t0001g0154 others(38): Show a0001c0001t0001g0028 a0001c0001t0001g0082 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0169 a0001c0001t0001g0183 a0001c0001t0001g0213 a0001c0001t0001g0223 a0001c0001t0002g0067 a0001c0001t0002g0180 a0001c0001t0002g0200 a0001c0001t0004g0014 a0001c0001t0007g0008 a0001c0003t0001g0199 a0001c0006t0003g0021 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0038 a0002c0002t0001g0041 a0002c0002t0001g0051 a0002c0002t0001g0072 a0002c0002t0001g0136 a0002c0002t0001g0149 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0189 a0002c0002t0001g0234 a0002c0002t0002g0027 a0002c0002t0003g0083 a0002c0002t0004g0001 a0002c0002t0005g0137 a0002c0002t0007g0018 a0007c0010t0003g0133 a0008c0017t0002g0121 a0010c0016t0002g0044 a0010c0016t0002g0165 a0021c0041t0001g0210 a0023c0044t0001g0058	41	236	0.1737	417	c.321 others(436): Show c.3217-2046_3217-2045insCTTCCTTCCTTCTCTCCTTCCTTCCT TCCCTCCCTCCTTCCCTTCCTTCCTTCTCTCCTTCCTTCCCTTCCTTCCT TCTCTCCTTCCTTCCCTTCCTTCCTTCTCTCCTTCCTTCCCTTCCTTCCT TCTCTCCTTCCTTCCCTTCCTTCCTTCTCTCCTTCCTTCCCTTCCTTCCT TCTCTCCTTCCTTCCCTTCCTTCCTTCTCTCCTTCCTTCCCTTCCTTCCT TCTCTCCTTCCTTCCCTTGCTTCCTTTCTTCCTTCCTTTGCTTCCTTGCT TCCTTCTTTCCTTTCTTCATCCCTCCCTCCCTCCTTCCTTCCTTTCCTTC CTTCCCTCTATCCTTCCTTCCTTCCTTTCTTTCTCCCTCCCTTCCTTCCC TTCCTTCCTTCCCTCTTTTCCTTCCATCTTTCCTTTCTTCC		CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	24/26					INFO_REALIGN_3_PRIME	chr20	TogoVar
CHTF18_chr16_783620_803074	795580	G G	GCCCTTCT others(410): Show GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC CCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCA CACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCCCCCCCGTGCTGCCCGTGTGGCTGCC CACTCCCCATGCCCCCCCCATGCTGCCCGTGTGGCTGTCCCCTCCCCCGT GCCCCCCCCGTGCTGCCCGTGTGGGTGCCCCTGGCCCCGTGCCGCCCCGC CCCTCCCCTCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0262 a0004c0005t0002g0262	1	428	0.0023	417	c.217 others(434): Show c.2176-102_2176-101insTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCT GCCCCCGGCCCCGTGCCCCCCCCCCCCAACCACACTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCC CCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCGT GCTGCCCGTGTGGCTGCCCACTCCCCATGCCCCCCCCATGCTGCCCGTGT GGCTGTCCCCTCCCCCGTGCCCCCCCCGTGCTGCCCGTGTGGGTGCCCCT GGCCCCGTGCCGCCCCGCCCCTCCCCTCCCCCCCCCCCC		CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21					INFO_REALIGN_3_PRIME	chr16	TogoVar
CHTF18_chr16_783620_803074	795580	G G	GCCCTTCT others(410): Show GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC CCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCC ACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCCAACCACACTGCCC GTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCGTGCTGCCCGTGTGGCT GCCCACTCCCCATGCCCCCCCCATGCTGCCCGTGTGGCTGTCCCCTCCCC CGTGCCCCCCCCGTGCTGCCCGTGTGGGTGCCCCTGGCCCCGTGCCGCCC CGCCCCTCCCCTCCCCCC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0002 a0004c0013t0002	a0004c0013t0002g0260 a0004c0013t0002g0260	1	428	0.0023	417	c.217 others(434): Show c.2176-102_2176-101insTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCT GCCCCCGGCCCCGTGCCCCCCCCCCCCCAACCACACTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCC CCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCC CGTGCTGCCCGTGTGGCTGCCCACTCCCCATGCCCCCCCCATGCTGCCCG TGTGGCTGTCCCCTCCCCCGTGCCCCCCCCGTGCTGCCCGTGTGGGTGCC CCTGGCCCCGTGCCGCCCCGCCCCTCCCCTCCCCCCCCC		CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21					INFO_REALIGN_3_PRIME	chr16	TogoVar
CHTF18_chr16_783620_803074	795580	G G	GCCCTTCT others(410): Show GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC CCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCC ACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCCAACCACACTGCCC GTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCGTGCTGCCCGTGTGGCTG CCCACTCCCCATGCCCCCCCCATGCTGCCCGTGTGGCTGTCCCCTCCCCC GTGCCCCCCCCGTGCTGCCCGTGTGGGTGCCCCTGGCCCCGTGCCGCCCC GCCCCTCCCCTCCCCCCC	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA18980.hp2 HG03579.hp2 NA18980.hp2	a0004 a0004	a0004c0005 a0004c0013 a0004c0005 a0004c0013	a0004c0005t0002 a0004c0013t0002 a0004c0005t0002 a0004c0013t0002	a0004c0005t0002g0256 a0004c0013t0002g0254 a0004c0005t0002g0256 a0004c0013t0002g0254	2	428	0.0047	417	c.217 others(434): Show c.2176-102_2176-101insTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCT GCCCCCGGCCCCGTGCCCCCCCCCCCCCAACCACACTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCC CCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCC GTGCTGCCCGTGTGGCTGCCCACTCCCCATGCCCCCCCCATGCTGCCCGT GTGGCTGTCCCCTCCCCCGTGCCCCCCCCGTGCTGCCCGTGTGGGTGCCC CTGGCCCCGTGCCGCCCCGCCCCTCCCCTCCCCCCCCCC		CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21					INFO_REALIGN_3_PRIME	chr16	TogoVar
CNOT1_chr16_58514951_58634826	58586431	A A	AAGGGGAG others(410): Show AAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGGCAGGGGGGAGGGGAAGGG GAGGGCAGGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGG AAGGGGGAGGGCAGGGGGAGGGGAAGGGAAGGGCAGGGGAGGGGGAGGGG GACTGGAGGGGAGGGGACGGGAGGGGGGAGGGGGGAGGGGAGGGGGACTG GAGGGGAGGGGAGGGGAAGGGGAAGGGAAGGGGAGGGGAAGGGGATGGGA GGGGAAGGGGAGGAGAGGGAGAGGGGAAGGGGAGGGGAGGGGAAGGGGAA GGGAAAGGGGAGGGAAGGGGAGGGAAGGGGAGGGAAGGGAAGGGAAGGGG AGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGGAGGTGGGGGGGGA GGGGAGGGCAGGGGGGAG	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	308	0.0033	417	c.637 others(432): Show c.637+113_637+114insCTCCCCCCTGCCCTCCCCTCCCCCCCCACC TCCCCTTCCCCTCCCCTCCCCTTCCCCTCCCCTCCCCTCCCCTTCCCTTC CCTTCCCTCCCCTTCCCTCCCCTTCCCTCCCCTTTCCCTTCCCCTTCCCC TCCCCTCCCCTTCCCCTCTCCCTCTCCTCCCCTTCCCCTCCCATCCCCTT CCCCTCCCCTTCCCTTCCCCTTCCCCTCCCCTCCCCTCCAGTCCCCCTCC CCTCCCCCCTCCCCCCTCCCGTCCCCTCCCCTCCAGTCCCCCTCCCCCTC CCCTGCCCTTCCCTTCCCCTCCCCCTGCCCTCCCCCTTCCCCTCCCCCTG CCCTCCCCTTCCCCTCCCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCC CCCCTGCCCTCCCCTTCCCCTCCCCCTGCCCTCCCCT		CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	7/48						chr16	TogoVar
CNOT3_chr19_54132762_54160681	54133829	C C	CTTCCTCC others(410): Show CTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCC CTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCTCCACCTC CCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCA CCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTC TCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTC TCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCT CCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCC CTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCT CCACCTCCCCTCCCTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	223	0.0045	417	c.-42 others(428): Show c.-4215_-4214insTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCC CTCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCT CTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCT CCCTCCCTCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCT CTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCA CCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCC TCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCC TCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCT CCACCTTCCCTGTCTCCACCTCCCCTCCCTCTG		CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding					3932		chr19	TogoVar
CNST_chr1_246561456_246673595	246576190	G G	GCGCCACC others(410): Show GCGCCACCGCACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAA AAAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTT ATAACTGGTGGGTGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACA TCACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCA CGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGT CAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCT TGCAGTGAGCCGAGATCC	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0164 a0001c0001t0014g0164	1	320	0.0031	417	c.-52 others(434): Show c.-52+9532_-52+9533insCCGCACTCCAGCCTGGGTGACAAGAGCG AGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAA GGTTGTATTTCTGTTTATAACTGGTGGGTGGGGGGGAGTTAAATTAATTT TGCCTTTGGGACAACATCACATCATGTTTTAGAAACAAACATTTCTCGGC CGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGC GGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGA AACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTAGTGGCGGG CGCCTGCAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAA CCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCA		CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246576195	A A	ACCGCACT others(410): Show ACCGCACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAA AAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAA CTGGTGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACA TCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02074.hp1 HG02071.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0073 a0001c0001t0003g0074	2	320	0.0063	417	c.-52 others(434): Show c.-52+9532_-52+9533insCCGCACTCCAGCCTGGGTGACAAGAGCG AGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGATTTCAGTGCTCA AGGTTGTATTTCTGTTTATAACTGGTGGGGGGGGGGAGTTAAATTAATTT TGCCTTTGGGACAACATCACATCATGTTTTAGAAACAAACATTTCTCGGC CGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGC GGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGA AACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTAGTGGCGGG CGCCTGCAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAA CCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCC		CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10						chr1	TogoVar
CNST_chr1_246561456_246673595	246576195	A A	ACCGCACT others(410): Show ACCGCACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAA AAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAA CTGGTGGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCAC ATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCC TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGG AGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAA TACAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCC	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0051 a0001c0001t0003g0051	1	320	0.0031	417	c.-52 others(434): Show c.-52+9532_-52+9533insCCGCACTCCAGCCTGGGTGACAAGAGCG AGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGATTTCAGTGCTCA AGGTTGTATTTCTGTTTATAACTGGTGGGGGGGGGGGAGTTAAATTAATT TTGCCTTTGGGACAACATCACATCATGTTTTAGAAACAAACATTTCTCGG CCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGG CGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTG AAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGCGGG CGCCTGCAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAA CCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCC		CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10						chr1	TogoVar
CNST_chr1_246561456_246673595	246576195	A A	ACCGCACT others(410): Show ACCGCACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAA AAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAAC TGGTGGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACA TCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCC	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0055 a0001c0001t0003g0055	1	320	0.0031	417	c.-52 others(434): Show c.-52+9532_-52+9533insCCGCACTCCAGCCTGGGTGACAAGAGCG AGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAA GGTTGTATTTCTGTTTATAACTGGTGGGGGGGGGGGAGTTAAATTAATTT TGCCTTTGGGACAACATCACATCATGTTTTAGAAACAAACATTTCTCGGC CGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGC GGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGA AACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTAGTGGCGGG CGCCTGCAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAA CCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCC		CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10						chr1	TogoVar
CNST_chr1_246561456_246673595	246576195	A A	ACCGCACT others(410): Show ACCGCACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAA AAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAAC TGGTGGGTGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACA TCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp2 HG01069.hp2 others(21): Show HG00280.hp1 HG00423.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01978.hp2 HG02004.hp2 HG02083.hp1 HG02293.hp1 HG03834.hp2 NA18971.hp2 NA19079.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0012 a0001c0001t0014	a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 others(20): Show a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0002g0045 a0001c0001t0002g0049 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0064 a0001c0001t0002g0077 a0001c0001t0002g0083 a0001c0001t0003g0003 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0063 a0001c0001t0003g0065 a0001c0001t0003g0163 a0001c0001t0007g0062 a0001c0001t0012g0001 a0001c0001t0014g0165	24	320	0.0750	417	c.-52 others(434): Show c.-52+9532_-52+9533insCCGCACTCCAGCCTGGGTGACAAGAGCG AGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAA GGTTGTATTTCTGTTTATAACTGGTGGGTGGGGGGGAGTTAAATTAATTT TGCCTTTGGGACAACATCACATCATGTTTTAGAAACAAACATTTCTCGGC CGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGC GGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGA AACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTAGTGGCGGG CGCCTGCAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAA CCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCC		CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10						chr1	TogoVar
CNST_chr1_246561456_246673595	246576195	A A	ACCGCACT others(410): Show ACCGCACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAA AAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAAC TGGTGGGTGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACA TCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACTG GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCC	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0080	1	320	0.0031	417	c.-52 others(434): Show c.-52+9532_-52+9533insCCGCACTCCAGCCTGGGTGACAAGAGCG AGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAA GGTTGTATTTCTGTTTATAACTGGTGGGTGGGGGGGAGTTAAATTAATTT TGCCTTTGGGACAACATCACATCATGTTTTAGAAACAAACATTTCTCGGC CGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGC GGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGA AACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTAGTGGCGGG CGCCTGCAGTCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATGGCGTGAA CCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCC		CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10						chr1	TogoVar

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Search Results (Total: 10000 hits)