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
DOCK8_chr9_209865_470255	400500	C C	CCACCATC others(602): Show CCACCATCACCACCACCACCTCCACCACCATCACCACCACCTCCACCATC ACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCAC CACCACCACCACCTCCACCATCACCACCACCTCCACCACCACCAGCATCT TCACCATCACCACCACCTCCACCACCACCACCTCCACCATCACCACCACC TCCACCACCACCAGCATCTTCACCATCACCACCACCTCCACCACCACCAG CATCTTCACCATCACCACCACCTCCACCACCACCAGCATCTTCACCATCA CCACCACCTCCACCACCACCACCACCTCCACCATCACCACCACCACCTCC ACCACCACCAGCATCTTCACCATCACCACCACCTCCACCACCACCACCAC CTCCACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCATCA CCATCACCACCACCTCCACCATCACCACCTCCTCCACCATCACCACCACC TCCACCACCACCACCTCCCCCACTACCAACAGCTCCTTCACCATCACCAC AACATCCACCACCACCATCACCACCACCACCACCACCTCCTCCACCATCA CCACCTCCTT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0010 a0010	a0010c0106 a0010c0106	a0010c0106t0008 a0010c0106t0008	a0010c0106t0008g0075 a0010c0106t0008g0075	1	256	0.0039	609	c.323 others(628): Show c.3234+1267_3234+1268insCCATCACCACCACCTCCACCATCACC ACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCACCAC CACCACCACCTCCACCATCACCACCACCTCCACCACCACCAGCATCTTCA CCATCACCACCACCTCCACCACCACCACCTCCACCATCACCACCACCTCC ACCACCACCAGCATCTTCACCATCACCACCACCTCCACCACCACCAGCAT CTTCACCATCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCA CCACCTCCACCACCACCACCACCTCCACCATCACCACCACCACCTCCACC ACCACCAGCATCTTCACCATCACCACCACCTCCACCACCACCACCACCTC CACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCATCACCA TCACCACCACCTCCACCATCACCACCTCCTCCACCATCACCACCACCTCC ACCACCACCACCTCCCCCACTACCAACAGCTCCTTCACCATCACCACAAC ATCCACCACCACCATCACCACCACCACCACCACCTCCTCCACCATCACCA CCTCCTTCACCATCACCACCACCACCTCCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
EBF2_chr8_25836725_26050413	26005367	A A	AATATATA others(602): Show AATATATAATTATATATTATATATAATTATATATTATATATAATTATATA TTATATATAATATATAATTATATATTATATATAATATATAATTATATATA ATATATAATATATTATATATTATATATATTATATAAAATATAATATATTA TATATAATTATATATTATATATTATATATAATATATAATTATATGTTATA TATTATATATATTATATATTATATATATATTATATATATAATATATATTA TATATTAAATTATATATAATATATATTATATATATAATTTATATATATAA AATATATTATATATTATATAAATATATATATTTTATATATATAAAATATA TATTTTATAATATATAATATAGAAATGTATATTATATAATATATAATTAT ATATAATTATATATTATATAATATATATTTCTATATTATATATTTATAAT GTATAATATATAAATATATTATAAATATATATTATATACTATATAATGCA TTATAAATATATTATATTTATATATTATAAATATATTACATATTTATATA TTATATATATAATATATATATTATATATTATAAATATATTTTATAAAATA TAATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0131 a0001c0001t0002g0131	1	220	0.0046	609	c.551 others(628): Show c.551+27717_551+27718insATATATATTATATTTTATAAAATATA TTTATAATATATAATATATATATTATATATATAATATATAAATATGTAAT ATATTTATAATATATAAATATAATATATTTATAATGCATTATATAGTATA TAATATATATTTATAATATATTTATATATTATACATTATAAATATATAAT ATAGAAATATATATTATATAATATATAATTATATATAATTATATATTATA TAATATACATTTCTATATTATATATTATAAAATATATATTTTATATATAT AAAATATATATATTTATATAATATATAATATATTTTATATATATAAATTA TATATATAATATATATTATATATAATTTAATATATAATATATATTATATA TATAATATATATATAATATATAATATATATAATATATAACATATAATTAT ATATTATATATAATATATAATATATAATTATATATAATATATTATATTTT ATATAATATATATAATATATAATATATTATATATTATATATAATTATATA TTATATATAATATATAATTATATATTATATATAATATATAATTATATATA ATATATAATTATATATAATATATAATTATATAT	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
EPHB2_chr1_22705839_22926500	22754841	G G	GGAGGTGA others(602): Show GGAGGTGAGGGGCAGGGGAGGGGAGGTGAGGGGCAGGGGAGGGGAGGTGA GGGGCAGGGGAGGTGAGGTGAGGGGCAGGGGAGATAAGAGGCAGGTGAGG TGAGATGAGGGGCAGGTGAGATGAGATGAGGGGCAGGGAAGGTGAGATGA GGGACAGGGGAGGTGAGGTGAGGGACAGGGGAGGTGAGGTGAGGGTCAGG GGAGGTGAAGGGCAGGTGAGGTGAGATGAGGGGCAGGGGAGATGAGATGA GGGGCAGAGAAGGTGAGATGAGGGATGGGGAGGTGAGGTGAGGGGCAGGG GAGGTGAGGTGAGGGGCAGGGGAGGTGAGGGGAGGTGAGATGAGGGGCAG GTGAGATGAGGGGCAAGGGAGGTGAGATGAGGGGCAGGTGAGGTGAGATG AGGGGCAGGTGAGGTGAGACGAGGGGCAGGTGAGGTGAGACGTGGGGCAG GTGAGGTGAGGGACAGGGGAGGTGAGGTGAGGGGCAGGGGAGGTGAGGTG AGGGACAGGTGAGGTGAGGGGCAGGGGAGGTGAGGCAAGGGTCAGGGAAG CTGAGGCGAGGGGCAGGGGAGGTGAGGTGAGGGGCAGGGGAGGTGAGGGG CAGGGGAGGT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02630.hp2 HG02615.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0021 a0001c0001t0012 a0001c0001t0021	a0001c0001t0012g0145 a0001c0001t0021g0072 a0001c0001t0012g0145 a0001c0001t0021g0072	2	248	0.0081	609	c.62- others(626): Show c.62-26570_62-26569insGCAGGGGAGGGGAGGTGAGGGGCAGGGG AGGGGAGGTGAGGGGCAGGGGAGGTGAGGTGAGGGGCAGGGGAGATAAGA GGCAGGTGAGGTGAGATGAGGGGCAGGTGAGATGAGATGAGGGGCAGGGA AGGTGAGATGAGGGACAGGGGAGGTGAGGTGAGGGACAGGGGAGGTGAGG TGAGGGTCAGGGGAGGTGAAGGGCAGGTGAGGTGAGATGAGGGGCAGGGG AGATGAGATGAGGGGCAGAGAAGGTGAGATGAGGGATGGGGAGGTGAGGT GAGGGGCAGGGGAGGTGAGGTGAGGGGCAGGGGAGGTGAGGGGAGGTGAG ATGAGGGGCAGGTGAGATGAGGGGCAAGGGAGGTGAGATGAGGGGCAGGT GAGGTGAGATGAGGGGCAGGTGAGGTGAGACGAGGGGCAGGTGAGGTGAG ACGTGGGGCAGGTGAGGTGAGGGACAGGGGAGGTGAGGTGAGGGGCAGGG GAGGTGAGGTGAGGGACAGGTGAGGTGAGGGGCAGGGGAGGTGAGGCAAG GGTCAGGGAAGCTGAGGCGAGGGGCAGGGGAGGTGAGGTGAGGGGCAGGG GAGGTGAGGGGCAGGGGAGGTGAGGTGAGGG	EPHB2	ENSG00000133216.17	transcript	ENST00000374630.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
FBN2_chr5_128252909_128543245	128539983	C C	CATATATA others(602): Show CATATATATCATATATATCATATATATCAATCATATATATCATATATATC ATATATCATATATATCATATATATCATATATATCATATATATCATATATA TCATATATCATATATCATATATATCAATCATATATATCATATATCATATA TATCATATATATCATATATCATATATATCATATATATCATATATATCATA TATATCATATATCATATATATCATATATATCATATATCATATATCATATA TATCATATATATCATATATCATATATATCATATATATCATATATCATATA TATCATATATATCATATATCATATATATCATATATATCATATATCATATA TATCATATATATCATATATATCATATATCATATATATCATATATATCATA TATCATATATATCATATATATCATATATCATATATATCATATATATCATA TATCATATATATCATATATATCATATATATCATATATATCATATATATCA TATATATCATATATATCATATATATCATATATATCATATATCATATATAT CATATATCATATATCATATATATCATATATCATATATATCATATATATCA TATATATCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0018 a0018	a0018c0030 a0018c0030	a0018c0030t0008 a0018c0030t0008	a0018c0030t0008g0021 a0018c0030t0008g0021	1	236	0.0042	609	c.-23 others(620): Show c.-2381_-2380insATGATATATATGATATATATGATATATATGATAT ATGATATATATGATATATGATATATGATATATATGATATATGATATATAT GATATATATGATATATATGATATATATGATATATATGATATATATGATAT ATATGATATATATGATATATATGATATATGATATATATGATATATATGAT ATATGATATATATGATATATATGATATATGATATATATGATATATATGAT ATATGATATATATGATATATATGATATATATGATATATGATATATATGAT ATATATGATATATGATATATATGATATATATGATATATGATATATATGAT ATATATGATATATGATATATATGATATATATGATATATGATATATGATAT ATATGATATATATGATATATGATATATATGATATATATGATATATATGAT ATATATGATATATGATATATATGATATATATGATATATGATATATATGAT TGATATATATGATATATGATATATGATATATATGATATATATGATATATA TGATATATATGATATATATGATATATGATATATATGATATATATGATTGA TATATATGATATATATGATATATAT	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding		1739		chr5	TogoVar
FGL1_chr8_17859389_17900524	17882814	A A	AATATATA others(602): Show AATATATAGTATATAATATATTAAACAATATATAATATATAGTATATAAT ATATTAAACAATATATAATATATATCATATATAATATATTAAATAATATA TAATATATATCATATATAATATATTAAATAATATATAATATATATCATAT ATAATATATTAAATAATATATAATATATCTCATATATAATATATTAAATA ATATATATATATCTCATATATAATATATTAAATAATATATAATATATCTC ATATATAATATATTAAATAATATATAATATATATCATATATAATATATTA AATAATATATAATATATATCATATGTAATATATTAAATATATAATATATA TCATATGTAATATATTAAATATATAATATATATCATATGTAATATATTAA ATATATAATATATATCATATGTAATATATTAAATATAGAATATATATCAT ATATAATATATTAAATATAGAATATATATCATATATAATATATTAAATAT ATAATATATATCATATATAATATATTAAATAATATATAATATATATCATA TATAATATATTAAATAATATATAATATATATCATATATAATATATTAAAT AATATATAAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01257.hp1 HG01361.hp2 others(13): Show HG00438.hp1 HG01257.hp1 HG01361.hp2 HG01433.hp2 HG01952.hp1 HG02129.hp2 HG02257.hp2 HG02300.hp2 NA18612.hp2 NA18945.hp2 NA18949.hp1 NA18972.hp1 NA18995.hp2 NA18999.hp1 NA19057.hp2 NA19086.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0027 a0005c0005t0001g0162 a0005c0005t0001g0256 others(12): Show a0005c0005t0001g0027 a0005c0005t0001g0162 a0005c0005t0001g0256 a0005c0005t0001g0257 a0005c0005t0001g0259 a0005c0005t0001g0260 a0005c0005t0001g0261 a0005c0005t0001g0262 a0005c0005t0001g0263 a0005c0005t0001g0264 a0005c0005t0001g0265 a0005c0005t0001g0266 a0005c0005t0001g0267 a0005c0005t0001g0268 a0005c0005t0001g0269	16	366	0.0437	609	c.64- others(622): Show c.64-636_64-635insATTATATATTATTTAATATATTATATATGATA TATATTATATATTATTTAATATATTATATATGATATATATTATATATTAT TTAATATATTATATATGATATATATTATATATTTAATATATTATATATGA TATATATTCTATATTTAATATATTATATATGATATATATTCTATATTTAA TATATTACATATGATATATATTATATATTTAATATATTACATATGATATA TATTATATATTTAATATATTACATATGATATATATTATATATTTAATATA TTACATATGATATATATTATATATTATTTAATATATTATATATGATATAT ATTATATATTATTTAATATATTATATATGAGATATATTATATATTATTTA ATATATTATATATGAGATATATATATATTATTTAATATATTATATATGAG ATATATTATATATTATTTAATATATTATATATGATATATATTATATATTA TTTAATATATTATATATGATATATATTATATATTATTTAATATATTATAT ATGATATATATTATATATTGTTTAATATATTATATACTATATATTATATA TTGTTTAATATATTATATACTATATAT	FGL1	ENSG00000104760.17	transcript	ENST00000427924.5	protein_coding	2/7			chr8	TogoVar
GPIHBP1_chr8_143208218_143222170	143218085	C C	CCCCCACA others(602): Show CCCCCACACCACCCCCAACACCACCCCCAACACCACCCCCAACACCACCC CAACACCACCCCCAACACCATCCCCAACACCACCCCCAACACCACCCCCA ACACCATCCCCAACACCACCCAACACCACCCCACACCACCCCCAACACCA CCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCAACACCACC CCAACACCACCCCCAACACCACCCCAACACCACCCCCAACACCATCCCCA ACACCACCCAACACCACCCCCAACACCACCCAACACCACCCCACACCACC CCCAACACCACCCCCAACACCACCCCCAACACCACCCCCAACACCACCCC CAACACCACCCCAACACCACCCCCAACACCACCCCAACACCACCCCCAAC ACCATCCCCAACACCACCCAACACCACCCCAACACCACCCAACACCACCC CACACCACCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCAAC ACCACCCCCAACACCACCCCAACACCACCCCCAACACCATCCCCAACACC ACCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCAACACCACC CCCAACACCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0004 a0001c0004t0003g0004	1	106	0.0094	609	c.25 others(620): Show c.2567_*2568insCCCCACACCACCCCCAACACCACCCCCAACACCA CCCCCAACACCACCCCAACACCACCCCCAACACCATCCCCAACACCACCC CCAACACCACCCCCAACACCATCCCCAACACCACCCAACACCACCCCACA CCACCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCAACACC ACCCCCAACACCACCCCAACACCACCCCCAACACCACCCCAACACCACCC CCAACACCATCCCCAACACCACCCAACACCACCCCCAACACCACCCAACA CCACCCCACACCACCCCCAACACCACCCCCAACACCACCCCCAACACCAC CCCCAACACCACCCCCAACACCACCCCAACACCACCCCCAACACCACCCC AACACCACCCCCAACACCATCCCCAACACCACCCAACACCACCCCAACAC CACCCAACACCACCCCACACCACCCCCAACACCACCCCCAACACCACCCC CAACACCACCCCAACACCACCCCCAACACCACCCCAACACCACCCCCAAC ACCATCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCAACAC CACCCCAACACCACCCCCAACACCA	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		916		chr8	TogoVar
HPCAL1_chr2_10297904_10432604	10399298	T T	TCACCACC others(602): Show TCACCACCACCATCACCATCATCACCGCCACCACCACCACCACCACCACC ACCACCACCACCATCACCACCACCATCACCACCACCATCACCACCACCAT CATCACCACCATCACCACCACCACCACCACCACCATCACCACCACCACCA TCACCACCACCACCACCATCACCACCACCATCACCATCATCACCGCCACC ACCACCACCATCACCACCACCATCACCATCACCACCACCATCACCACCAC CACCACCACCACCATCACCACCACCATCACCACCACCATCACCACCACCA CCACCATCACCACCACCATCACCATCATCACCGCCACCACCACCACCATC ACCACCACCATCATCACCACCATCATCACCGCCGCCACCACCACCACCAT CACCACCACCACCATCACCACCACCACCACCATCACCACCACCATCACCA TCATCACCGCCACCACCACCACCATCACCACCACCATCATCACCACCATC ATCACCGCCGCCACCACCACCACCACCGCCGCCGCCGCCGCCACTGCCGC CACCACCACCACCATCACCATCATCACCGCCGCCACCACCACCACCATCA CCACCACAAC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0185 a0001c0001t0017g0185	1	314	0.0032	609	c.-25 others(626): Show c.-25+2389_-25+2390insTCACCATCATCACCGCCACCACCACCAC CACCACCACCACCACCACCACCATCACCACCACCATCACCACCACCATCA CCACCACCATCATCACCACCATCACCACCACCACCACCACCACCATCACC ACCACCACCATCACCACCACCACCACCATCACCACCACCATCACCATCAT CACCGCCACCACCACCACCATCACCACCACCATCACCATCACCACCACCA TCACCACCACCACCACCACCACCATCACCACCACCATCACCACCACCATC ACCACCACCACCACCATCACCACCACCATCACCATCATCACCGCCACCAC CACCACCATCACCACCACCATCATCACCACCATCATCACCGCCGCCACCA CCACCACCATCACCACCACCACCATCACCACCACCACCACCATCACCACC ACCATCACCATCATCACCGCCACCACCACCACCATCACCACCACCATCAT CACCACCATCATCACCGCCGCCACCACCACCACCACCGCCGCCGCCGCCG CCACTGCCGCCACCACCACCACCATCACCATCATCACCGCCGCCACCACC ACCACCATCACCACCACAACCACCACCACCA	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
IFNAR1_chr21_33319970_33364864	33323037	A A	AATATATA others(602): Show AATATATATATGGAATATATATATGGAATATATATATGGAATATATATAT GGAATATATATATATGGAATATATATATATGGAATATATATATATGGAAT ATATATATATGGAATATATATATGGAATATATATATGGAATATATATATA TGGAATATATATATGGAATATATATATATGGAATATATATATGGAATATA TATATATGGAATATATATATGGAATATATATATATGGAATATATATATAT GGAATATATATATATGGAATATATATATATGGAATATATATATATGGAAT ATATATATATGGAATATATATATATGGAATGTATATATGGAATATATATA TGGAATGTATATATGGAATATATATATGGAATGTATATATGTGGAATGTA TATATGTGGAATGTATATATGTGGAATGTATATATGTGGAATGTATATAT GTGGAATGTATATATGTGGAATGTATATGTGGAATGTATATATGTGGAAT GTATATGTGGAATGTATATATGGAATATATATATATGGAATATATATATG GAATATATATATATGGAATATATATATGGAATATATATATATGGAATATA TATATGGAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0032 a0003c0003t0032	a0003c0003t0032g0115 a0003c0003t0032g0115	1	323	0.0031	609	c.-20 others(620): Show c.-2019_-2018insATATATATATGGAATATATATATGGAATATATAT ATGGAATATATATATGGAATATATATATATGGAATATATATATATGGAAT ATATATATATGGAATATATATATATGGAATATATATATGGAATATATATA TGGAATATATATATATGGAATATATATATGGAATATATATATATGGAATA TATATATGGAATATATATATATGGAATATATATATGGAATATATATATAT GGAATATATATATATGGAATATATATATATGGAATATATATATATGGAAT ATATATATATGGAATATATATATATGGAATATATATATATGGAATGTATA TATGGAATATATATATGGAATGTATATATGGAATATATATATGGAATGTA TATATGTGGAATGTATATATGTGGAATGTATATATGTGGAATGTATATAT GTGGAATGTATATATGTGGAATGTATATATGTGGAATGTATATGTGGAAT GTATATATGTGGAATGTATATGTGGAATGTATATATGGAATATATATATA TGGAATATATATATGGAATATATATATATGGAATATATATATGGAATATA TATATATGGAATATATATATGGAAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1932		chr21	TogoVar
IQCB1_chr3_121764761_121840060	121786167	T T	TAAGAAAA others(602): Show TAAGAAAAGAAAAGAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAA	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0125 a0002c0003t0001g0125	1	308	0.0033	609	c.127 others(628): Show c.1278+2116_1278+2117insTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTCTTTTCTTTTCTT	IQCB1	ENSG00000173226.17	transcript	ENST00000310864.11	protein_coding	12/14			chr3	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(602): Show CGCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCCCCACAGCCGCC CCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCC ACCCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCACA GCCACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCA CAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCC CACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCAC CCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAG CCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCCCCCAC AGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCC CACAGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCC CCCCACAGCT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0089 a0002c0002t0001g0089	1	312	0.0032	609	c.-41 others(624): Show c.-41+629_-41+630insCCCACAGCCGCCCCCCCCCACAGCCGCCCC CCTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCA CAGCCGCCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCCCCACAGCCGC CCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGC CACCCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCAC AGCCACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCC ACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCC CCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCA CCCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACA GCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCCCCCA CAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCC CCACAGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGC CCCCCACAGCTGCCCCCACAGCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
LOC102723971_chr9_135609183_135624893	135620157	T T	TCTACTCC others(602): Show TCTACTCCCCCTTCTCCCCCTACTCCCCCGTCTCCCCCGTCTCCCCCTTC TCCCCCTTTTCCCCCTACTCCCCCTTCTCCCCCATCTCCCCCGTCTCTCC CGTCTCCCCCATCTCCCCCTTCTCACCCTTCTCCCCCTACTCCCTCTTCT CCCCCGTCTCCCCCGTCTGCCCAGTCTCCCCCTTCTCCCCCTTCTCCCCC TTCTCCCCAATCTCCCCCGTCTCCCCCTTCTCCCATCTCCCCCATCTCCC CCTTCTCCCCCTACTCCCCTTCTCCCCTTCTCCCCCTTCTCCCCCATCTG CCCAGTATCCCCTTCTCCCCCTTCTTCCCCTACTCCCCCTACTCCCCCAT CTCCCTCTTCTCCCCTATCTCCCCCTTCTCCCCCTACTCCCCCTTCTCCC CCGTCTCCCCTGTCTGCCCAGTCTCCCCCATCTCCCCCTACTCCCCCTTC TCCCCCTACTCCTTCTCCCCCTTCTCCCCCTTCCCCCTCTACTCCCCCTT CTCCCCCTACTCCCCCTTCTCCCCCGTCTCCCCTGTCTGCCCAGTCTCCC CCATCTCCCCCTACTCCCCCTTCTCCCCCTACTCCTTCTCCCCTTCTCCC CCTTCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0003 a0003c0003t0005g0003	1	450	0.0022	609	c.12 others(620): Show c.1205_*1206insCTACTCCCCCTTCTCCCCCTACTCCCCCGTCTCC CCCGTCTCCCCCTTCTCCCCCTTTTCCCCCTACTCCCCCTTCTCCCCCAT CTCCCCCGTCTCTCCCGTCTCCCCCATCTCCCCCTTCTCACCCTTCTCCC CCTACTCCCTCTTCTCCCCCGTCTCCCCCGTCTGCCCAGTCTCCCCCTTC TCCCCCTTCTCCCCCTTCTCCCCAATCTCCCCCGTCTCCCCCTTCTCCCA TCTCCCCCATCTCCCCCTTCTCCCCCTACTCCCCTTCTCCCCTTCTCCCC CTTCTCCCCCATCTGCCCAGTATCCCCTTCTCCCCCTTCTTCCCCTACTC CCCCTACTCCCCCATCTCCCTCTTCTCCCCTATCTCCCCCTTCTCCCCCT ACTCCCCCTTCTCCCCCGTCTCCCCTGTCTGCCCAGTCTCCCCCATCTCC CCCTACTCCCCCTTCTCCCCCTACTCCTTCTCCCCCTTCTCCCCCTTCCC CCTCTACTCCCCCTTCTCCCCCTACTCCCCCTTCTCCCCCGTCTCCCCTG TCTGCCCAGTCTCCCCCATCTCCCCCTACTCCCCCTTCTCCCCCTACTCC TTCTCCCCTTCTCCCCCTTCCCCCC	LOC102723971	ENSG00000236543.3	transcript	ENST00000430816.3	protein_coding		265		chr9	TogoVar
MPPED1_chr22_43407014_43512848	43496928	G G	GTGGAGGT others(602): Show GTGGAGGTGGTGATGGTGGAGGTGGTGGTGGAGGTAGTGGTGGTGGAGGT AGTGGTGGTGGAGATGGTGGTGGTGGAGGTGGTGGTGGAGGTGGTGGTGG AGGTAGTGGTGGTGGAGATGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTA GTGGTGGTGGAGATGGTGGTGGAGGTGGTGATGGAGGTGGTGGTGGTGGA GGTGGTGGTGGTGGAGGTAGTGGTGGTGGAGATGGTGGTGGTGGTGGTGG AGATGGTGGTGGTGGAGGTAGTGGTGGTGGAGATGGTGGTGGTGGAGGTA GTGGTGGTGGAGATGGTGGTGGAGATGGTGTTGGTGGAGATGGTGGTGGT GGAGATAGTGGTGGTGGAGGTGATGGTGGAGGTAGTGGTGGTGGAGGTGG TGGTGGTGGAGATGGTGGTGGTGGAGATGGTGGTGGTGGTGGAGATGGTG GTGGAGATGGTGTTGGTGGAGATGGTGGTGGTGGAGATAGTGGTGGTGGA GGTGATGGTGGAGGTAGTGGTGGTGGAGGTGGTGGTGGTGGAGATGGTGG TGGTGGAGATGGTGGTGGTGGTGGAGATGGTGGTGGTGGAGGTGGTGGTG GTGGAGGTGA	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0022 a0001c0004t0022	a0001c0004t0022g0213 a0001c0004t0022g0213	1	250	0.0040	609	c.633 others(626): Show c.633-1304_633-1303insAGGTGGTGATGGTGGAGGTGGTGGTGGA GGTAGTGGTGGTGGAGGTAGTGGTGGTGGAGATGGTGGTGGTGGAGGTGG TGGTGGAGGTGGTGGTGGAGGTAGTGGTGGTGGAGATGGTGGTGGTGGAG GTGGTGGTGGTGGAGGTAGTGGTGGTGGAGATGGTGGTGGAGGTGGTGAT GGAGGTGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTAGTGGTGGTGGAGA TGGTGGTGGTGGTGGTGGAGATGGTGGTGGTGGAGGTAGTGGTGGTGGAG ATGGTGGTGGTGGAGGTAGTGGTGGTGGAGATGGTGGTGGAGATGGTGTT GGTGGAGATGGTGGTGGTGGAGATAGTGGTGGTGGAGGTGATGGTGGAGG TAGTGGTGGTGGAGGTGGTGGTGGTGGAGATGGTGGTGGTGGAGATGGTG GTGGTGGTGGAGATGGTGGTGGAGATGGTGTTGGTGGAGATGGTGGTGGT GGAGATAGTGGTGGTGGAGGTGATGGTGGAGGTAGTGGTGGTGGAGGTGG TGGTGGTGGAGATGGTGGTGGTGGAGATGGTGGTGGTGGTGGAGATGGTG GTGGTGGAGGTGGTGGTGGTGGAGGTGATGG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537611	G G	GGCCAGCC others(602): Show GGCCAGCCGCCCCGTCTGGGAGGTGAGGGGGCGCCTCTTGCCGCGCCGCC CCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGTCGCGCCCCCGCCCGGCCAGCCCGCCCTGTCCGGG AGGGAGGTGGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGGTCGGCCCCCCGCCCGGCCAGGCCGCCCCGTCGG GAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGTGGGGGGGTCGGCCCTCCTGCCCTGCCAGCCGCCCCGTCCG GGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGC CCCCCGCCCCGGCCAGCCGCCCCGTCCAGGATGGAGGTGGGGGGGGGTCA GTCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCA GTCCCCCGCCTGGCCAGCCGTGCCGTCCGGGAGGGAGGTGGGGGGGTCAG CCCCCCGCCC	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	256	0.0039	609	c.241 others(628): Show c.241+14494_241+14495insGGGCGGGGGGCTGACCCCCCCACCTC CCTCCCGGACGGCACGGCTGGCCAGGCGGGGGACTGACCCCCCCACCTCC CTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGACTGACCCCCCCCCACCT CCATCCTGGACGGGGCGGCTGGCCGGGGCGGGGGGCTGACCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGG CAGGGCAGGAGGGCCGACCCCCCCACACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGACGGGGCGGCCTG GCCGGGCGGGGGGCCGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACAGGGCGGGC TGGCCGGGCGGGGGCGCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCGCGGCAAGAG GCGCCCCCTCACCTCCCAGACGGGGCGGCTGGC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MSLN_chr16_755734_773862	767547	G G	GGGGGGGG others(602): Show GGGGGGGGCGAGTGGAGGAGCCCCGGTGGAGGGGCGCGTGGAGGAGGGGC GCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGAGCGGGAGGAGGGGCGAGC GGGAGGAGGGGCGAGCGGGAGGAGGGGCGCGTGGACGGGGTGCGTGGAGG AGGGGCGCGTGGGGGGGGGCGCGTGGAGGGGGGCGCGTGGAGGAGGGGCG CGTGGAGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATG GGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGCACGTGGAGGGGTCGCGTG GAGGAGGGGCGCGTGGAGGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCGC ATGGGGGTGCGTGGGGGGGCGCGTGGAGGGGGGGCGTGTGGGGGGGGCCG CGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCGTGGAG GGGGGGCGAGTGGAGGGGGGCGCGTGGGGGGGGCGTGGAGGAGGGGCGCG TGGAGGAGGAGGGGCGCGTGGAGGGGGGGCGAGTGGAGGGGGGCGCGTGG GGGGGGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCGTGGAGGGGG GGCGAGTGGA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0218 a0002c0003t0004g0218	1	388	0.0026	609	c.159 others(624): Show c.1596+83_1596+84insGCGAGTGGAGGAGCCCCGGTGGAGGGGCGC GTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGAGCGGG AGGAGGGGCGAGCGGGAGGAGGGGCGAGCGGGAGGAGGGGCGCGTGGACG GGGTGCGTGGAGGAGGGGCGCGTGGGGGGGGGCGCGTGGAGGGGGGCGCG TGGAGGAGGGGCGCGTGGAGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGA GGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGCACGTG GAGGGGTCGCGTGGAGGAGGGGCGCGTGGAGGGGGGCGCGTGGGGGGGTG TGGAGGGGGGCGCATGGGGGTGCGTGGGGGGGCGCGTGGAGGGGGGGCGT GTGGGGGGGGCCGCGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGAGGA GGGGCGCGTGGAGGGGGGGCGAGTGGAGGGGGGCGCGTGGGGGGGGCGTG GAGGAGGGGCGCGTGGAGGAGGAGGGGCGCGTGGAGGGGGGGCGAGTGGA GGGGGGCGCGTGGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGG CGCGTGGAGGGGGGGCGAGTGGAGGGGGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
NOTCH1_chr9_136489433_136551048	136535833	A A	AGGGGGGA others(602): Show AGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGAGTGCAGGGTGGGTG GAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGG TGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGCAGGGTGG GTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGT GGGTGGAGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTGGAGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGG GTGGGTGGAGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTGGAGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTGGAGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGC AGGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGC AGGGTGGGTC	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0010 a0001c0007t0010	a0001c0007t0010g0279 a0001c0007t0010g0279	1	324	0.0031	609	c.140 others(626): Show c.140+8190_140+8191insGACCCACCCTGCACCCATTGCCCCTGGG AGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTGGG AGGGATCCTGAGTGCTCCCCCTCCACCCACCCTGCACCCATTGCCCCTGG GAGGGATCCTGAGTGCTCCCCCTCCACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCTCCACCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCCTCCACCCACCCTGCACCCATTGCCCC TGGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCC TGGGAGGGATCCTGAGTGCTCCCCCTCCACCCACCCTGCACCCATTGCCC CTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGC CCCGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTG CCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACTCAT TGCCCCGGGAGGGATCCTGAGTGCTCCCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NT5C1A_chr1_39646229_39677107	39664492	T T	TCTCCTCT others(602): Show TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC TCTCCTCTCCTCTCCTCTCCCACCCTCCCCCCCTCCCCTTCCCCTTCCTC CTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTC CTCTCCTCTCCTCTCCCACCCTCCCCCCCTCCCCTTCCCCTTCCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCCACCCTCCCCCCC TCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCC CTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTC CCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTTCCCTCTCCC CTTCCCCTCC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0027 a0001c0001t0003g0027	1	326	0.0031	609	c.433 others(626): Show c.433+1028_433+1029insGGAGGGGAAGGGGAGAGGGAAGGGGAAG GGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGAGAGGG AAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAGG GGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGAGGGGGGGAGGGTGGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGGAAGGGGAAGG GGAGGGGGGGAGGGTGGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGGAAGGGGAAGGGGAG GGGGGGAGGGTGGGAGAGGAGAGGAGAGGAGAGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(602): Show AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGTC GGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCCGGCCGCCCC TACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCGTCCAGGAG GGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCTCCCGGAGGTGGGGG GTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGC CGCCCCGCCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCC GCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCG CCTCGTCCGGGAGGGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0121 a0001c0001t0006g0121	1	155	0.0065	609	c.155 others(628): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGG GGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCAGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCGGGAG GCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTGGACGGGGCGA CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCCCCCCCCCCGC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCCACCTCCC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
PIAS4_chr19_4002736_4044386	4035960	C C	CACCCGCA others(602): Show CACCCGCACACATCCATACAGTCCATACCATAACACACACACCCGCACAC ATCCATACAGTCCACACCATAACACACACACCCGCACACATCCATACAGT CCACACCATAACACACACACCCGCACACATCCATCCAGTCCACACCATAA CACACACACCCGCACACATCCATACAGTCCACACCATAACACACACACAC CCGCACACATCCATACAGTCCATACCATCACACACACCCACACACATCCA TACAGTCCACACCATAACACACACACCCGCACACATCCATACAGTCCACA CCATAACACACACACCCGCACACATCCATACAGTCCACACCATAACACAC ACACCCGCACACATCCATACAGTCCACACCGTCTCACACACACACCCGCA CACATCCATACAGTCCACACCATAACACACACACCTGCACACATCCATAC AGTCCACACCATCACACACACATCCATACAATCCACACCGTCACACACAT CCATACAGTCCACACCATCACACACATCCATACAGTCCACACCATCACAC ACACATCCATATAGTCCACACACATCCATACAGTCCACACCATCACACAC ACACACATCT	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA18964.hp1 HG00438.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0021 a0001c0001t0001 a0001c0001t0021	a0001c0001t0001g0158 a0001c0001t0021g0117 a0001c0001t0001g0158 a0001c0001t0021g0117	2	334	0.0060	609	c.114 others(628): Show c.1143-1413_1143-1412insCCCGCACACATCCATACAGTCCATAC CATAACACACACACCCGCACACATCCATACAGTCCACACCATAACACACA CACCCGCACACATCCATACAGTCCACACCATAACACACACACCCGCACAC ATCCATCCAGTCCACACCATAACACACACACCCGCACACATCCATACAGT CCACACCATAACACACACACACCCGCACACATCCATACAGTCCATACCAT CACACACACCCACACACATCCATACAGTCCACACCATAACACACACACCC GCACACATCCATACAGTCCACACCATAACACACACACCCGCACACATCCA TACAGTCCACACCATAACACACACACCCGCACACATCCATACAGTCCACA CCGTCTCACACACACACCCGCACACATCCATACAGTCCACACCATAACAC ACACACCTGCACACATCCATACAGTCCACACCATCACACACACATCCATA CAATCCACACCGTCACACACATCCATACAGTCCACACCATCACACACATC CATACAGTCCACACCATCACACACACATCCATATAGTCCACACACATCCA TACAGTCCACACCATCACACACACACACATCTA	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PKP3_chr11_389209_409908	398691	G G	GTCACCTC others(602): Show GTCACCTCCCTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCAC ACACCTGCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTAC CCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCAC CTCCCTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACC TGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCG CACACACCTGCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCC TACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTCCGT CACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACAC ACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCC CCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCT CCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTC CGTCACCTCCGTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCA CACACCTGCA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	216	0.0046	609	c.106 others(626): Show c.1069-293_1069-292insCTACCCCCGCACACACCTCCGTCACCTC CGTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTGC GTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCAC ACACCTGCGTCACCTCCCTACCCCCGCACACACCTCCGTCACCTCCGTAC CCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCAC CTCCGTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACC TGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCG CACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCC TACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGT CACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACAC ACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCC CCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTCCGTCACCT CCGTACCCCCGCACACACCTGCATCACCTCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	398691	G G	GTCACCTC others(602): Show GTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCAC ACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTAC CCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTCCGTCAC CTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACC TGCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCG CACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCC TACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGT CACCTCCGTACCCCCGCACACACCTCCGTCACCTCCCTACCCCCGCACAC ACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCC CCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCT CCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTC CGTCACCTCCGTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCA CACACCTGCA	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	216	0.0046	609	c.106 others(626): Show c.1069-293_1069-292insCTACCCCCGCACACACCTGCGTCACCTC CCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGC GTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCAC ACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTAC CCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTGCGTCAC CTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACC TGCGTCACCTCCCTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCG CACACACCTGCGTCACCTCCGTACCCCCGCACACACCTCCGTCACCTCCC TACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGT CACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACAC ACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCC CCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTCCGTCACCT CCGTACCCCCGCACACACCTGCATCACCTCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLCB1_chr20_8127266_8889900	8662120	A A	AATTATAT others(602): Show AATTATATAATTATATATATATAATTATATAATTATATATTATTTATTAT ATAATATATAATTATATAATTATATATTATTTATTATATAATATATAATT ATATAATTATATATTATTTATTATATAATATATAATTATATAATTATATA TTATTTATTATATAATTATATATTATTTATTATATATATATTATTTATTA TATAATTATATAATTATATATTATTTATTATATAATTATATATTATTTAT TATATAATATATAATTATATATTATTTATTATATAATATATAATTATATA TTATTTATTATATAATATATAATTATATATTATTTATTATATAATATATA ATTATATATTATTTATTATATAATTATATATTATGTATTATATAATATAT AATTATATATTATGTATTATATAATTATATAATTATATATTATTTATTAT ATAATTATATAATTATATATTATTTATTACATAATTATATATTATTTATT ACATAAGTATATATTATTTATTACATAAGTATATATCACTTATTATATAA TTGTATATAATTATTTATTATATAATTGCATATAATTATTTATTATATAA TTGTATATAG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0017 a0001c0006t0003g0017	1	106	0.0094	609	c.862 others(626): Show c.862+3416_862+3417insATTATATAATTATATATATATAATTATA TAATTATATATTATTTATTATATAATATATAATTATATAATTATATATTA TTTATTATATAATATATAATTATATAATTATATATTATTTATTATATAAT ATATAATTATATAATTATATATTATTTATTATATAATTATATATTATTTA TTATATATATATTATTTATTATATAATTATATAATTATATATTATTTATT ATATAATTATATATTATTTATTATATAATATATAATTATATATTATTTAT TATATAATATATAATTATATATTATTTATTATATAATATATAATTATATA TTATTTATTATATAATATATAATTATATATTATTTATTATATAATTATAT ATTATGTATTATATAATATATAATTATATATTATGTATTATATAATTATA TAATTATATATTATTTATTATATAATTATATAATTATATATTATTTATTA CATAATTATATATTATTTATTACATAAGTATATATTATTTATTACATAAG TATATATCACTTATTATATAATTGTATATAATTATTTATTATATAATTGC ATATAATTATTTATTATATAATTGTATATAG	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	9/31			chr20	TogoVar
PLPP2_chr19_276043_296403	291612	G G	GGGGGGGA others(602): Show GGGGGGGACGGCAGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGG GAGGGCAGCAGGGGAGAGGGGAGGAGGGGAGGGGCGGGGAGGGGAGGGGA GGAGGGAGGGGGAGGGGAGGAGGGGAGGGGAGGAAGGGGGGGACGGCAGC GGCGGGCAGGGGAGCAGCGGGCGGGGCGGGGAGGAGGGGAGGGAGGGGGA GGGGAGGAGGGGGGGAGGGGAGGGGAGGAGGGGGGGACGGCAGCGGCGGG CAGGGGAGCGGCGGGCGGGGCGGGGAGGGGAGGGCAGCAGGGGAGAGGGG AGGAGGGGAGGGGCGGGGAGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGA GGGAGGGGGAGGGGAGGAGGGAGGGGGGACGGCAGCGGCGGGCAGGGGAG CGGCGGGCGGGGCGGGGAGGAGGGGAGGGAGGGGGAGGGGAGGAGGGGGG AGGGGAGGGGAGGAAGGGGGGGGACGGCAGCGGCGGGCAGGGGAGCAGCG GGCGGGGCGGGGAGGAGGGGAGGGTTAGGGGCGGGGAGGGGAGGAGGGAG GGGGAGGGGAGGAGGGGCGGGGAGGGGAGAGGGGGGAGGGGAGGAGGGAG GGGGAGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	354	0.0028	609	c.-27 others(618): Show c.-277_-276insTCCCCTCCCCCTCCCTCCTCCCCTCCCCCCTCTCCC CTCCCCGCCCCTCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCGCCCCTAA CCCTCCCCTCCTCCCCGCCCCGCCCGCTGCTCCCCTGCCCGCCGCTGCCG TCCCCCCCCTTCCTCCCCTCCCCTCCCCCCTCCTCCCCTCCCCCTCCCTC CCCTCCTCCCCGCCCCGCCCGCCGCTCCCCTGCCCGCCGCTGCCGTCCCC CCTCCCTCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCTCCTCCCC TCCCCTCCCCGCCCCTCCCCTCCTCCCCTCTCCCCTGCTGCCCTCCCCTC CCCGCCCCGCCCGCCGCTCCCCTGCCCGCCGCTGCCGTCCCCCCCTCCTC CCCTCCCCTCCCCCCCTCCTCCCCTCCCCCTCCCTCCCCTCCTCCCCGCC CCGCCCGCTGCTCCCCTGCCCGCCGCTGCCGTCCCCCCCTTCCTCCCCTC CCCTCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCTCCCCGCCCCTCCCCT CCTCCCCTCTCCCCTGCTGCCCTCCCCTCCCCGCCCCGCCCGCCGCTCCC CTGCCCGCCGCTGCCGTCCCCCC	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding		210		chr19	TogoVar
RAB11FIP3_chr16_420649_528011	504279	C C	CTCCCATC others(602): Show CTCCCATCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTC CTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCC TCACCTCCTCCTGCACTCCCATCTCCTCCTGTACCCCCTCACCTCCTTGT GCACCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACC TCTTCCTGTACCCGCCTCACCTCCTCCTGCACTCCCATCTCCTCCTGTAC CCCCTCACCTCCTTGTGCACCCCTCACCTCCTGTACCCCCTCACCTCCTC CTGTACCCCCCTCACCTCCTCCTGTACCACCTCCTCCTGTACCCCCTCAC CTCCTCTTGCACCCCCCTTGCCTCCTGTACCCCCTCACCTCCTTGTGCAC CCCCTCACCTCCTGTACCCCCCTCACCTCCTCCTGTACCCGCCTCACCTC CTCCTGCACTCCCATCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCC CTCACCTCCTCCTATACCCCCTCACCTCCTCCTATACCCCCTCACCTCCT CCTGCACTCCCATCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCTC ACCTCCTGTA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0190 a0001c0002t0002g0190	1	295	0.0034	609	c.139 others(628): Show c.1395+1182_1395+1183insTCCCATCTCCTCCTGTACCCCCTCAC CTCCTTGTGCACCCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACC CCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGCACTCCCATCTCCT CCTGTACCCCCTCACCTCCTTGTGCACCCCTCACCTCCTGTACCCCCTCA CCTCCTCCTGTACCCCCCTCACCTCTTCCTGTACCCGCCTCACCTCCTCC TGCACTCCCATCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCTCAC CTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCCTCCTGTAC CACCTCCTCCTGTACCCCCTCACCTCCTCTTGCACCCCCCTTGCCTCCTG TACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCCTCACC TCCTCCTGTACCCGCCTCACCTCCTCCTGCACTCCCATCTCCTCCTGTAC CCCCTCACCTCCTTGTGCACCCCCTCACCTCCTCCTATACCCCCTCACCT CCTCCTATACCCCCTCACCTCCTCCTGCACTCCCATCTCCTCCTGTACCC CCTCACCTCCTTGTGCACCCCTCACCTCCTGTA	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13			chr16	TogoVar
RAB11FIP3_chr16_420649_528011	504418	C C	CCTCACCT others(602): Show CCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCC TCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCT CACCTCCTCCTGTACCCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTT GTGCACCCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTC ACCTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCT GTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCCTC ACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCCTCCTGT ACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCTCACCTC CTCCTGTACCCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTTGTGCAC CCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCC TCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCT CACCTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCC TGTACCCCCT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02129.hp2 HG02165.hp1 HG02027.hp2 HG02129.hp2 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0011 a0001c0001t0003 a0001c0001t0007 a0001c0001t0011	a0001c0001t0003g0216 a0001c0001t0007g0134 a0001c0001t0011g0132 a0001c0001t0003g0216 a0001c0001t0007g0134 a0001c0001t0011g0132	3	295	0.0102	609	c.139 others(628): Show c.1396-1105_1396-1104insTCACCTCCTCCTGTACCCCCTCACCT CCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTTGTGCAC CCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCC TCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCT CACCTCCTCCTGTACCCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTC CTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCC TCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCTCACCTCCTCCTG TACCCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCCTC ACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCCTCCTGT ACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCTCACCTC CTCCTGTACCCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTTGTGCAC CCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCT CCTGTACCCCCTCACCTCCTCCTGTACCCCCTC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RABEP2_chr16_28899421_28930238	28915167	T T	TCTCCTGC others(602): Show TCTCCTGCCTCAGCCTCCCCAGGAGCTGGGACTATAGGCACACACCAACA TGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTG CCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCTGCCTGCCTTGGCCTC CCAAAGTGCTGGGATTACAGGCTTGAGCCACCACGCCCGGCTTTTTTTTT TTTTTTTTAAGAGATGAGGTCGGCCGGGCGCGGTGACTCATGCCTGTAAT CCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACAAGGTCAAGAGATCG AGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAGTATAAA AATTAGCTGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATCCTTTGAACCCGGGAGGCGGGGGTTGCAGCGAGCC AAGATCACGCCATTGCACTCCAGCCTGGGCAACAGAGTGAGATGCTGTCT CAAAAAAAAAAAAAAAAAAAAGAGATGAGGTCTCGTTCTGTTGCCCAGGC TGGAGTGCAGTGGTGCAGTCGCGTCTCACTGTAGCCCTCATCTCCAGGAC TCGAGCCATC	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	366	0.0027	609	c.433 others(624): Show c.433-386_433-385insGATGGCTCGAGTCCTGGAGATGAGGGCTAC AGTGAGACGCGACTGCACCACTGCACTCCAGCCTGGGCAACAGAACGAGA CCTCATCTCTTTTTTTTTTTTTTTTTTTTGAGACAGCATCTCACTCTGTT GCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCGCTGCAACCCCCGCC TCCCGGGTTCAAAGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCTGCCACCACGCCCAGCTAATTTTTATACTTTTAATAGAGAC GGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTGAT CCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCG CGCCCGGCCGACCTCATCTCTTAAAAAAAAAAAAAAAAAGCCGGGCGTGG TGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATC ACGAGGTCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAAACCCCATC TCTACTAAAAATACAAAAATTAGCTGGGCATGTTGGTGTGTGCCTATAGT CCCAGCTCCTGGGGAGGCTGAGGCAGGAG	RABEP2	ENSG00000177548.13	transcript	ENST00000358201.9	protein_coding	3/12			chr16	TogoVar
RABL6_chr9_136802948_136846187	136803012	G G	GGGGGCCC others(602): Show GGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAA GGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGG ATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCC CAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGC CCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGG TCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCT TGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCC CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0008 a0008	a0008c0021 a0008c0021	a0008c0021t0001 a0008c0021t0001	a0008c0021t0001g0002 a0008c0021t0001g0002	1	330	0.0030	609	c.-51 others(620): Show c.-5185_-5184insGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCG GATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCC AGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC CGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATC TTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAG GGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCA AGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCC CAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGC CCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCT	RABL6	ENSG00000196642.19	transcript	ENST00000311502.12	protein_coding		4935		chr9	TogoVar
RABL6_chr9_136802948_136846187	136803012	G G	GGGGGCCC others(602): Show GGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCC CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0146 a0002c0004t0001g0146	1	330	0.0030	609	c.-51 others(620): Show c.-5185_-5184insGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCG GATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCC AGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC CGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAA GGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCC	RABL6	ENSG00000196642.19	transcript	ENST00000311502.12	protein_coding		4935		chr9	TogoVar
RABL6_chr9_136802948_136846187	136803145	G G	GCCGGGGG others(602): Show GCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCC CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGG TCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCT TGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCC CCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAG GGCCCAGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	330	0.0030	609	c.-50 others(620): Show c.-5052_-5051insCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCC CAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGC CCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGG TCAAGGTGAGCTCAGGGCCCAGGGC	RABL6	ENSG00000196642.19	transcript	ENST00000311502.12	protein_coding		4802		chr9	TogoVar
RABL6_chr9_136802948_136846187	136803215	G G	GGGGGCCC others(602): Show GGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCCGGGGGCCCCCAGGGCCAGCCCTCTTGGATCTT CGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGG CCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGG GCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCT TGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCC CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0085 a0002c0002t0002g0085	1	330	0.0030	609	c.-49 others(620): Show c.-4982_-4981insGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCG GATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCAGGGCCA GCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCC GGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAA GGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGG ATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCC CAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGC CCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCC	RABL6	ENSG00000196642.19	transcript	ENST00000311502.12	protein_coding		4732		chr9	TogoVar
RIN3_chr14_92508781_92693994	92547135	G G	GTAAATTA others(602): Show GTAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATT ATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTT ATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAA TTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTAT AAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTT ATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTC TTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAAAT AAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTAT TATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTAT TTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATT ATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAA AATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTAT TATTATAAAA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02132.hp1 HG02080.hp2 HG02132.hp1	a0003 a0008 a0003 a0008	a0003c0003 a0008c0010 a0003c0003 a0008c0010	a0003c0003t0001 a0008c0010t0002 a0003c0003t0001 a0008c0010t0002	a0003c0003t0001g0268 a0008c0010t0002g0269 a0003c0003t0001g0268 a0008c0010t0002g0269	2	334	0.0060	609	c.45- others(624): Show c.45-8552_45-8551insGTCTTTATTTTATTATTATAAAATAAATTG TCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAA ATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATT ATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTT ATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAA TTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTAT AAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTT ATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATC TTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAAT AAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTAT TATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTAT TTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATT ATCTTTATTTTATTATTATAAAATAAATT	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
SHANK1_chr19_50654255_50724802	50678902	G G	GATGGGGA others(602): Show GATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGG TCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGG GGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGT GTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGG GGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGAT GGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCA AGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGA GGGGTCAGGGTGATGGGGAGGGGTCAGTGTGATGGAGAGGGGTCAGGGTG ATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGT CAGTGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGG GAGGGGTCAGTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAAGA TGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGG GTCAAGATGA	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18974.hp2 NA18998.hp1 others(2): Show NA18960.hp2 NA18974.hp2 NA18998.hp1 NA19056.hp1 NA19090.hp2	a0001 a0014 a0001 a0014	a0001c0002 a0001c0015 a0014c0024 a0001c0002 a0001c0015 a0014c0024	a0001c0002t0002 a0001c0002t0005 a0001c0002t0019 others(2): Show a0001c0002t0002 a0001c0002t0005 a0001c0002t0019 a0001c0015t0027 a0014c0024t0078	a0001c0002t0002g0295 a0001c0002t0005g0116 a0001c0002t0019g0272 others(2): Show a0001c0002t0002g0295 a0001c0002t0005g0116 a0001c0002t0019g0272 a0001c0015t0027g0028 a0014c0024t0078g0202	5	316	0.0158	609	c.257 others(628): Show c.2578-6789_2578-6788insTCATCTTGACCCCTCCCCATCACCCT GACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCA TCACCCTGACCCCTCTCCATCACACTGACCCCTCCCCATCACCCTGACCC CTCCCCATCACCCTGACCCCTCCCCATCACACTGACCCCTCCCCATCACC CTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCTC CATCACACTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGAC CCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCA CCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTC CCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTG ACCCCTCCCCATCACCCTGACCCCTCTCCATCACACTGACCCCTCCCCAT CACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCC TCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCC TGACCCCTCCCCATCATCTTGACCCCTCCCCAT	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23			chr19	TogoVar
SLC37A3_chr7_140328752_140403530	140387809	A A	AAATATAA others(602): Show AAATATAAATATATTATATATATTATACATAAATATAAATATATTATATA TATTATACATAAATATAAATATATTATATATATTATACATAAATATAAAT ATATTATATATATTATATATAAATATAAATATATTATATATTATATAAAT ATAAATATATTATATATAATATATAATATATATATTATATATAATATATA ATATAAATATATTATATATAATATATATAATATATATATTATATATAATA TATATAATATATATATTATATATATTATATATAATATATATAATATAAAT ATATTATATATAATATATATAATATAAATATATTATATATATTATATATA ATATAAATATATTATATATATTATATATAATATAAATATATTATATATAT TATATATAATATAAATATATTATATATATTATATATAATATAAATATATT ATATATATTATATATAATATAAATATATTATATATATTATATATAATATA AATATATTATATATATTATATATAATATAAATATATTATATATATTATAT ATAATATAAATATATTATATATATTATATATAATATAAATATATTATATA TATTATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0197 a0001c0001t0003g0197	1	346	0.0029	609	c.-70 others(626): Show c.-70-5214_-70-5213insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTATATATAATATATATAATAT ATTTATATTATATATAATATATATAATATATTTATATTATATATAATATA TATAATATATTTATATTATATATAATATATATAATATATTTATATTATAT ATAATATATATAATATATTTATATTATATATAATATATATAATATATTTA TATTATATATAATATATATAATATATTTATATTATATATAATATATATAA TATATTTATATTATATATATTATATATAATATATTTATATTATATATATT ATATATAATATATATAATATATATATTATATATATTATATATAATATATA TATTATATATATTATATATAATATATTTATATTATATATTATATATAATA TATATATTATATATTATATATAATATATTTATATTTATATAATATATAAT ATATTTATATTTATATATAATATATATAATATATTTATATTTATGTATAA TATATATAATATATTTATATTTATGTATAATATATATAATATATTTATAT TTATGTATAATATATATAATATATTTATATT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SLC37A3_chr7_140328752_140403530	140387809	A A	AAATATAA others(602): Show AAATATAAATATATTATATATATTATACATAAATATAAATATATTATATA TATTATACATAAATATAAATATATTATATATATTATACATAAATATAAAT ATATTATATATATTATATATAAATATAAATATATTATATATTATATAAAT ATAAATATATTATATATAATATATAATATATATATTATATATAATATATA ATATAAATATATTATATATAATATATATAATATATATATTATATATAATA TATATAATATATATATTATATATATTATATATATTATATATAATATAAAT ATATTATATATAATATATATAATATAAATATATTATATATAATATATATA ATATAAATATATTATATATATTATATATAATATAAATATATTATATATAT TATATATAATATAAATATATTATATATATTATATATAATATAAATATATT ATATATATTATATATAATATAAATATATTATATATATTATATATAATATA AATATATTATATATATTATATATAATATAAATATATTATATATATTATAT ATAATATAAATATATTATATATATTATATATAATATAAATATATTATATA TATTATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0208 a0001c0001t0003g0208	1	346	0.0029	609	c.-70 others(626): Show c.-70-5214_-70-5213insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTATATATAATATATATAATAT ATTTATATTATATATAATATATATAATATATTTATATTATATATAATATA TATAATATATTTATATTATATATAATATATATAATATATTTATATTATAT ATAATATATATAATATATTTATATTATATATAATATATATAATATATTTA TATTATATATAATATATATAATATATTTATATTATATATATTATATATAA TATATTTATATTATATATATTATATATAATATATTTATATTATATATAAT ATATATAATATATATAATATATATATTATATATATTATATATAATATATA TATTATATATATTATATATAATATATTTATATTATATATTATATATAATA TATATATTATATATTATATATAATATATTTATATTTATATAATATATAAT ATATTTATATTTATATATAATATATATAATATATTTATATTTATGTATAA TATATATAATATATTTATATTTATGTATAATATATATAATATATTTATAT TTATGTATAATATATATAATATATTTATATT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SLC37A3_chr7_140328752_140403530	140387809	A A	AAATATAA others(602): Show AAATATAAATATATTATATATATTATACATAAATATAAATATATTATATA TATTATACATAAATATAAATATATTATATATATTATATATAAATATAAAT ATATTATATATTATATAAATATAAATATATTATATATAATATATAATATA AATATATTATATATAATATATAATATAAATATATTATATATAATATATAT AATATATATATTATATATAATATATATAATATATATATTATATATATTAT ATATATTATATATAATATAAATATATTATATATAATATATATAATATAAA TATATTATATATAATATATATAATATAAATATATTATATATATTATATAT AATATAAATTATTATATATATTATATATAATATAAATATATTATATATAT TATATATAATATAAATATATTATATATATTATATATAATATAAATATATT ATATATATTATATATAATATAAATATATTATATATATTATATATAATATA AATATATTATATATATTATATATAATATAAATATATTATATATATTATAT ATAATATAAATATATTATATATATTATATATAATATAAATATATTATATA TATTATATAT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0004 a0005c0010t0004	a0005c0010t0004g0188 a0005c0010t0004g0188	1	346	0.0029	609	c.-70 others(626): Show c.-70-5214_-70-5213insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTATATATAATATATATAATAT ATTTATATTATATATAATATATATAATATATTTATATTATATATAATATA TATAATATATTTATATTATATATAATATATATAATATATTTATATTATAT ATAATATATATAATATATTTATATTATATATAATATATATAATATATTTA TATTATATATAATATATATAATAATTTATATTATATATAATATATATAAT ATATTTATATTATATATATTATATATAATATATTTATATTATATATATTA TATATAATATATTTATATTATATATAATATATATAATATATATAATATAT ATATTATATATATTATATATAATATATATATTATATATATTATATATAAT ATATTTATATTATATATTATATATAATATATTTATATTATATATTATATA TAATATATTTATATTTATATAATATATAATATATTTATATTTATATATAA TATATATAATATATTTATATTTATGTATAATATATATAATATATTTATAT TTATGTATAATATATATAATATATTTATATT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SLC6A3_chr5_1387794_1450440	1414469	G G	GCTGGGTG others(602): Show GCTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGG GCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGC AGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAG GCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGG GGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGG GCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGA AGGCGCTGGGTGGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGT GGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGA GGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCAG GGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGG GTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTG GAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGC GGGGAAGGCA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0265 a0001c0004t0001g0265	1	373	0.0027	609	c.115 others(626): Show c.1156+221_1156+222insTGCCTTCCCCGCCCTGCCCCTCCCGGCC CCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTG CCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCC TGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGG CCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAG TGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGC CCTGCCCCTCCCGGCCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCC CGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACC CAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCC CGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCT CCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCA CCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTC CCCGCCCTGCCCCTCCCGGCCCCCCACCCAG	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	8/14			chr5	TogoVar
SPATA13_chr13_24155720_24312069	24190154	T T	TATAATGA others(602): Show TATAATGATATATAATATATATCATTATATAACATATAATGATATATAAT ATATATCATTATATAACATATAATGATATATAATATATATCATTATATAA CATATAATGATATATAATATATATCATTATATAACATATAATGATATATA ATATATATCATTATATAACATATAATGATATATAATATATATCATTATAT AACATATAATGATATATAATATATATCATTATATAACATATAATGATATA TAATATATATCATTATATAACATATAATGATATATAATATATATCATTAT ATAACATATAATGATATATAATATATATCATTATATAACATATAATGATA TATAATATATATCATTATATAACATATAATGATATATAATATATATCATT ATATAACATATAATGATATATAATATATATCATTATATAACATATAATGA TATATAATATATATCATATAACATATAATGATATATAATATATATCATTA TATAACATATAATGATATATAATATATATCATTATATAACATATAATGAT ATATAATATATATCATTATATAACATATAATGATATATAATATATATCAT ATAACATATG	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0176 a0001c0002t0001g0176	1	356	0.0028	609	c.-11 others(630): Show c.-112+29225_-112+29226insATGATATATAATATATATCATTAT ATAACATATAATGATATATAATATATATCATTATATAACATATAATGATA TATAATATATATCATTATATAACATATAATGATATATAATATATATCATT ATATAACATATAATGATATATAATATATATCATTATATAACATATAATGA TATATAATATATATCATTATATAACATATAATGATATATAATATATATCA TTATATAACATATAATGATATATAATATATATCATTATATAACATATAAT GATATATAATATATATCATTATATAACATATAATGATATATAATATATAT CATTATATAACATATAATGATATATAATATATATCATTATATAACATATA ATGATATATAATATATATCATTATATAACATATAATGATATATAATATAT ATCATTATATAACATATAATGATATATAATATATATCATATAACATATAA TGATATATAATATATATCATTATATAACATATAATGATATATAATATATA TCATTATATAACATATAATGATATATAATATATATCATTATATAACATAT AATGATATATAATATATATCATATAACATATGATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
TBC1D22A_chr22_46757650_47180693	47128195	T T	TCCCTCCA others(602): Show TCCCTCCACCCCACCCATCCTCCCCTCTGCCCCACCCATCCCCCCTCCCC TCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCGCCCTACCCAT CCTCCTCCGCCCCACCCACCCCCCCTCCGCCCCACCCATCCCCCCTCCCC TCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCGCCCCACCCAT CCCTCCCTCCGCCCCACCCATCCCTCCTCCCCTCACCCATCCCTCCATCC TCCCTCCACCCCACCCATCCTCCCTCCACCCCACCCATCCTCCCCTCTGC CCCACCCATCCCCCCTCCCCTCACCCATCCCTCCCTCCGCCCCACCCATC CCTCCCTCCGCCCTACCCATCCTCCTCTGCCCCACCCACCCCCCCCTCCG CCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCCTCCGCCCCACCCAT CCCTCCCTCCGCCCCACCCATCCCTCCTCCGCCCCACCCACCACCCCTCC GCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCATCCTCCCTCCACC CCACCCATTCTCCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCC ACCCATCCTC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	112	0.0089	609	c.142 others(630): Show c.1425+16598_1425+16599insACCCCACCCATCCTCCCCTCTGCC CCACCCATCCCCCCTCCCCTCACCCATCCCTCCCTCCGCCCCACCCATCC CTCCCTCCGCCCTACCCATCCTCCTCCGCCCCACCCACCCCCCCTCCGCC CCACCCATCCCCCCTCCCCTCACCCATCCCTCCCTCCGCCCCACCCATCC CTCCCTCCGCCCCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCTCCC CTCACCCATCCCTCCATCCTCCCTCCACCCCACCCATCCTCCCTCCACCC CACCCATCCTCCCCTCTGCCCCACCCATCCCCCCTCCCCTCACCCATCCC TCCCTCCGCCCCACCCATCCCTCCCTCCGCCCTACCCATCCTCCTCTGCC CCACCCACCCCCCCCTCCGCCCCACCCATCCCCCCTCCCCTCACCCATCC CTCCCTCCGCCCCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCTCCG CCCCACCCACCACCCCTCCGCCCCACCCATCCCCCCTCCCCTCACCCATC CCTCCATCCTCCCTCCACCCCACCCATTCTCCCCTCCACCCCACCCATCC CCCATCCTCCCTCCACCCCACCCATCCTCCCCTCC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TCF25_chr16_89868592_89916379	89908696	C C	CCTCCCAC others(602): Show CCTCCCACCTCTCACCTCCCACCTCCCTCCTCCCAGTTCCCAGCTCCCAG CTCCCACCTCCCAGCTCCAACCTTCCAGCTCCCAGCTCCCACCTAGCAGC TCCCGGCTCCTGGCTCCCACCTCCCTCCTCCCACCTCCCACCTCCCAGCT CCCGCCTCCCACCTCCCACCTCCCACCTCCCTCCTCCCAGTTCCTACCTC CCATCTCCCAGCTCCCAGCTGCCACCTCCCAGCTTCTGCCTCCCTCCTCC CAGTTCCCACCTCCCAGCTCCCACCTCCCAGCTCCCGCCTCCCTCATCCT AGTTCCCACCTCCCAGCTCCCAGCTCCCTCCTCCCACCTCCCTCCTTTCA CCTCCCACCTGCCACCTCCCGCCTCCCACCTTCCAGCTCCCGCCTCCCAC CTTCCAGCTCCCGCCTCCCTCCTCCCAGTTCCCACCTCCCAGCTCCCACC TCCCAACTCCCTCCTCCCACCCCCCACCTCCCTCCTCCCAGTTTCCACCT CCCCGTTCCCACCTCCCACCTCCCTCCTCCCACCTCCCAACTCTCTCCTC CCACCTTCCAGTTCCCACCTCCTTCCTCGCAGTTCCCACCTCCCAGTTCC CACCTTCCAG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0005 a0002c0003t0001g0005	2	300	0.0067	609	c.179 others(628): Show c.1799+1380_1799+1381insCCTCTCACCTCCCACCTCCCTCCTCC CAGTTCCCAGCTCCCAGCTCCCACCTCCCAGCTCCAACCTTCCAGCTCCC AGCTCCCACCTAGCAGCTCCCGGCTCCTGGCTCCCACCTCCCTCCTCCCA CCTCCCACCTCCCAGCTCCCGCCTCCCACCTCCCACCTCCCACCTCCCTC CTCCCAGTTCCTACCTCCCATCTCCCAGCTCCCAGCTGCCACCTCCCAGC TTCTGCCTCCCTCCTCCCAGTTCCCACCTCCCAGCTCCCACCTCCCAGCT CCCGCCTCCCTCATCCTAGTTCCCACCTCCCAGCTCCCAGCTCCCTCCTC CCACCTCCCTCCTTTCACCTCCCACCTGCCACCTCCCGCCTCCCACCTTC CAGCTCCCGCCTCCCACCTTCCAGCTCCCGCCTCCCTCCTCCCAGTTCCC ACCTCCCAGCTCCCACCTCCCAACTCCCTCCTCCCACCCCCCACCTCCCT CCTCCCAGTTTCCACCTCCCCGTTCCCACCTCCCACCTCCCTCCTCCCAC CTCCCAACTCTCTCCTCCCACCTTCCAGTTCCCACCTCCTTCCTCGCAGT TCCCACCTCCCAGTTCCCACCTTCCAGCTCCCA	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
TLL2_chr10_96359608_96518926	96415739	G G	GTCTCTCT others(602): Show GTCTCTCTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCT CTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGT CTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCT GTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCT CTCTCTCTCTTCTCTGTCTCTGTCTCTCTCTCTCTCTCTGTCTCTGTCTC TCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTGTCTC TCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTC TCTCTCTCTGTCTCTTTCTCTCTCTCTCTGTCTCTCTCTGTCTCTTTCTC TCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTCTCTCTGTCTCTT TCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTGTCTC TCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTC TCTCTCTGTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTC TCTCTGTCTC	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0013 a0006c0011t0013	a0006c0011t0013g0217 a0006c0011t0013g0217	1	256	0.0039	609	c.924 others(626): Show c.924-2424_924-2423insGAGACAGAGAGAGAGACAGAGAGAGAGA GACAGAGAGAGAGACAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGA GAGACAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGA GAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGA GAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGA GACAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGA GAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGA AAGAGACAGAGAGAGAGAGACAGAGAGAGAGAGAGACAGAGACAGAGAGA GAGAGAGAGACAGAGACAGAGAAGAGAGAGAGAGAGAGACAGAGAGAGAG AGACAGAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAG AGAGACAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAG AGAGAGACAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGAGAG AGACAGAGAGAGAGAGAGAGAGAGAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TMC6_chr17_78102397_78133755	78115614	G G	GAGGAGCG others(602): Show GAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCG AAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGT GGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAG GGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAG GGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGG CACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGG CGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGA GTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCAC AGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGA AGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTG GGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGG AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCAC	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0262 a0001c0001t0004g0262	1	444	0.0023	609	c.227 others(628): Show c.2277+1654_2277+1655insGTGCCCACTCCCTTCGCCCCTGTGCC CACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCT TCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCT GTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGCCCAC TCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCG CCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTG CCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCC CTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTC CTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCC ACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTT CGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCT	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115618	A A	AGCGAAGG others(602): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGG AGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCA CAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCG AAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGT GGGCACAGGG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0430 a0001c0001t0001g0430	1	444	0.0023	609	c.227 others(628): Show c.2277+1650_2277+1651insCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGT GCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTC CCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCC CCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCC CACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115618	A A	AGCGAAGG others(602): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGC GAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGG AGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCA CAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCG AAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGT GGGCACAGGG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0003 a0005c0004t0003	a0005c0004t0003g0202 a0005c0004t0003g0202	1	444	0.0023	609	c.227 others(628): Show c.2277+1650_2277+1651insCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGT GCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTC CCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCC CCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCC CACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115765	G G	GGCGAAGG others(602): Show GGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGG AGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCA CAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCG AAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGT GGGCACAGGA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0033 a0005c0004t0033	a0005c0004t0033g0197 a0005c0004t0033g0197	1	444	0.0023	609	c.227 others(628): Show c.2277+1503_2277+1504insTCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC TCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGT GCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTC CCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCC CCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCC CACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115891	G G	GGCGAAGG others(602): Show GGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGA GCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGG AGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCA CAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCG AAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGT GGGCACAGGA	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0389 a0003c0003t0003g0389	1	444	0.0023	609	c.227 others(628): Show c.2277+1377_2277+1378insTCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGT GCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTC CCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCC CCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCC CACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMEM132B_chr12_125181386_125667369	125612896	A A	ATAAAAAT others(602): Show ATAAAAATATATATCATATATATTTATATATTGTATAAAAATATATATCA TATATATTCATATATTGTATAAAAATATATATATCATATATATTTATATA TTATATAAAAATATATATATCATATATATTTATATATTATATATTATATA TTTATATTTTATTTTTATATTTATATTATATATATATTTTTATATTTATA TTTATATATTATTATATTATATTTATATATTATATAAAAATATATATCAT ATATTTATATATTATATAAAAATATATTTCATATATATTTATATATTATA TAAAAATATATATCATATATATTTATATATTATATAAAAATATATATCAT ATATTTATATATTATATAAAAATATATATCATATATATTTATATATTATA TAAAAATATATATCATATATATTTATATATTAAAAATATATATCATATAT ATTTATATATTAAAAATATATATCATATATATTTATATATTAAAAATATA TATCATATATATTTATATATTAAAAATATATATCATATATATTTATATAT TAAAAATATATATCATATATATTTATATATTAAAAATATATATCATATAT ATTTATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp2 HG01109.hp1 others(7): Show HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01169.hp2 HG01358.hp1 HG01361.hp1 HG01978.hp1 NA18942.hp1 NA18962.hp1 NA20300.hp1	a0002 a0002	a0002c0001 a0002c0005 a0002c0006 others(2): Show a0002c0001 a0002c0005 a0002c0006 a0002c0008 a0002c0019	a0002c0001t0003 a0002c0001t0013 a0002c0005t0003 others(3): Show a0002c0001t0003 a0002c0001t0013 a0002c0005t0003 a0002c0006t0003 a0002c0008t0003 a0002c0019t0008	a0002c0001t0003g0002 a0002c0001t0013g0019 a0002c0001t0013g0071 others(7): Show a0002c0001t0003g0002 a0002c0001t0013g0019 a0002c0001t0013g0071 a0002c0001t0013g0091 a0002c0005t0003g0086 a0002c0006t0003g0003 a0002c0006t0003g0018 a0002c0006t0003g0087 a0002c0008t0003g0014 a0002c0019t0008g0118	10	128	0.0781	609	c.143 others(630): Show c.1437+28933_1437+28934insGTATAAAAATATATATCATATATA TTCATATATTGTATAAAAATATATATATCATATATATTTATATATTATAT AAAAATATATATATCATATATATTTATATATTATATATTATATATTTATA TTTTATTTTTATATTTATATTATATATATATTTTTATATTTATATTTATA TATTATTATATTATATTTATATATTATATAAAAATATATATCATATATTT ATATATTATATAAAAATATATTTCATATATATTTATATATTATATAAAAA TATATATCATATATATTTATATATTATATAAAAATATATATCATATATTT ATATATTATATAAAAATATATATCATATATATTTATATATTATATAAAAA TATATATCATATATATTTATATATTAAAAATATATATCATATATATTTAT ATATTAAAAATATATATCATATATATTTATATATTAAAAATATATATCAT ATATATTTATATATTAAAAATATATATCATATATATTTATATATTAAAAA TATATATCATATATATTTATATATTAAAAATATATATCATATATATTTAT ATATTAAAAATATATATCATATATATTTATATATT	TMEM132B	ENSG00000139364.11	transcript	ENST00000682704.1	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132B_chr12_125181386_125667369	125612896	A A	ATAAAAAT others(602): Show ATAAAAATATATATCATATATATTTATATATTGTATAAAAATATATATCA TATATATTCATATATTGTATAAAAATATATATATCATATATATTTATATA TTATATAAAAATATATATATCATATATATTTATATATTATATATTATATA TTTATATTTTATTTTTATATTTATATTATATATATATTTTTATATTTATA TTTATATATTATTATATTATATTTATATATTATATAAAAATATATATCAT ATATTTATATATTATATAAAAATATATTTCATATATATTTATATATTATA TAAAAATATATATCATATATATTTATATATTATATAAAAATATATATCAT ATATTTATATATTATATAAAAATATATGTCATATATATTTATATATTATA TAAAAATATATATCATATATATTTATATATTAAAAATATATATCATATAT ATTTATATATTAAAAATATATATCATATATATTTATATATTAAAAATATA TATCATATATATTTATATATTAAAAATATATATCATATATATTTATATAT TAAAAATATATATCATATATATTTATATATTAAAAATATATATCATATAT ATTTATATAT	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0008 a0002c0001t0008	a0002c0001t0008g0113 a0002c0001t0008g0113	1	128	0.0078	609	c.143 others(630): Show c.1437+28933_1437+28934insGTATAAAAATATATATCATATATA TTCATATATTGTATAAAAATATATATATCATATATATTTATATATTATAT AAAAATATATATATCATATATATTTATATATTATATATTATATATTTATA TTTTATTTTTATATTTATATTATATATATATTTTTATATTTATATTTATA TATTATTATATTATATTTATATATTATATAAAAATATATATCATATATTT ATATATTATATAAAAATATATTTCATATATATTTATATATTATATAAAAA TATATATCATATATATTTATATATTATATAAAAATATATATCATATATTT ATATATTATATAAAAATATATGTCATATATATTTATATATTATATAAAAA TATATATCATATATATTTATATATTAAAAATATATATCATATATATTTAT ATATTAAAAATATATATCATATATATTTATATATTAAAAATATATATCAT ATATATTTATATATTAAAAATATATATCATATATATTTATATATTAAAAA TATATATCATATATATTTATATATTAAAAATATATATCATATATATTTAT ATATTAAAAATATATATCATATATATTTATATATT	TMEM132B	ENSG00000139364.11	transcript	ENST00000682704.1	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132B_chr12_125181386_125667369	125612896	A A	ATAAAAAT others(602): Show ATAAAAATATATATCATATATATTTATATATTGTATAAAAATATATATCA TATATATTCATATATTGTATAAAAATATATATATCATATATATTTATATA TTATATAAAAATATATATATCATATATATTTATATATTATATATTATATA TTTATATTTTATTTTTATATTTATATTATATATATATTTTTATTTTTATA TTTATATATTATTATATTATATTTATATATTATATAAAAATATATATCAT ATATTTATATATTATATAAAAATATATTTCATATATATTTATATATTATA TAAAAATATATATCATATATATTTATATATTATATAAAAATATATATCAT ATATTTATATATTATATAAAAATATATATCATATATATTTATATATTATA TAAAAATATATATCATATATATTTATATATTAAAAATATATATCATATAT ATTTATATATTAAAAATATATATCATATATATTTATATATTAAAAATATA TATCATATATATTTATATATTAAAAATATATATCATATATATTTATATAT TAAAAATATATATCATATATATTTATATATTAAAAATATATATCATATAT ATTTATATAT	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0003 a0002c0008t0003	a0002c0008t0003g0127 a0002c0008t0003g0127	1	128	0.0078	609	c.143 others(630): Show c.1437+28933_1437+28934insGTATAAAAATATATATCATATATA TTCATATATTGTATAAAAATATATATATCATATATATTTATATATTATAT AAAAATATATATATCATATATATTTATATATTATATATTATATATTTATA TTTTATTTTTATATTTATATTATATATATATTTTTATTTTTATATTTATA TATTATTATATTATATTTATATATTATATAAAAATATATATCATATATTT ATATATTATATAAAAATATATTTCATATATATTTATATATTATATAAAAA TATATATCATATATATTTATATATTATATAAAAATATATATCATATATTT ATATATTATATAAAAATATATATCATATATATTTATATATTATATAAAAA TATATATCATATATATTTATATATTAAAAATATATATCATATATATTTAT ATATTAAAAATATATATCATATATATTTATATATTAAAAATATATATCAT ATATATTTATATATTAAAAATATATATCATATATATTTATATATTAAAAA TATATATCATATATATTTATATATTAAAAATATATATCATATATATTTAT ATATTAAAAATATATATCATATATATTTATATATT	TMEM132B	ENSG00000139364.11	transcript	ENST00000682704.1	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM178B_chr7_141069064_141485380	141337156	C C	CACCACCA others(602): Show CACCACCACCATCACTACCACCACCACCACCCCCATCACTACCATCATCA TCACCACCACCACCATCACCACCATCACCACCACCACCATCATCACCACC ACCATCACCACCACCACCATCACCACCACCACCACCACCACCACCACCAT CACCACCACCACCACCACCACCACCACCACCACCACCACCATCACCACCA CCACCACCACCACCATCACCACCACCACCACCACCACCACCATCACCACC ACCACCACCACCACCACCACCAGCATCACCACCATCACCACCACCACCAC CACCACCACCACCACCACCACCAGCATCACCACCACCACCACCACCACCA CCACCATCACCACCAGCATCACCACCATCACCACCACCATCACCACCACC ACCACCACCACCACCACCACCACCACCAGCATCACCACCATCACCACCAC CACCACCACCACCACCACCACCACCATCACCACCAGCATCACCACCATCA CCACCACCATCACCACCACCACCACCACCACCATCACCACCACCACCATC ACCACCACGACCACCACCAGCACCACCATCACCACCATCACCACCACCAC CACCATCACT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0072 a0001c0002t0016g0072	1	80	0.0125	609	c.497 others(630): Show c.497-100451_497-100450insCCACCACCATCACTACCACCACCA CCACCCCCATCACTACCATCATCATCACCACCACCACCATCACCACCATC ACCACCACCACCATCATCACCACCACCATCACCACCACCACCATCACCAC CACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCA CCACCACCACCACCATCACCACCACCACCACCACCACCATCACCACCACC ACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCAGCAT CACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCAGCA TCACCACCACCACCACCACCACCACCACCATCACCACCAGCATCACCACC ATCACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCAC CAGCATCACCACCATCACCACCACCACCACCACCACCACCACCACCACCA TCACCACCAGCATCACCACCATCACCACCACCATCACCACCACCACCACC ACCACCATCACCACCACCACCATCACCACCACGACCACCACCAGCACCAC CATCACCACCATCACCACCACCACCACCATCACTA	TMEM178B	ENSG00000261115.7	transcript	ENST00000565468.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
TMEM179_chr14_104585864_104609772	104603541	G G	GGCTCACA others(602): Show GGCTCACAGAGGGAGTGGGTGGGTTCACAGAGGGAGTGGGTGGGTTCACA GAGGGGGTGGGTGGGCTCACAGAGGGGGTGGGTGGGTTCACAGAGGGAGT GGGTGGGTTCACAGAGGGAGTGGGTGGGTTCACAGAGGGGGTGGGTGGGC TCACAGAGGGGGTGGGTGGGTTCACAGAGGGGGTGGGTGGGCTCACAGAG GGGGTGGGTGGGTTCACAGAGGGAGTGGGTGGGTTCACAGAGGGGGTGGG TGGGCTCACAGAGGGAGTGGGTGGGTTCACAGAGGGGGTGGGTGGGCTCA CAGAGGGGGTGGGTGGGTTCACAGAGGGAGTGGGTGGGTTCACAGAGGGG GTGGGTGGGTTCACAGAGGGGGTGGGTGGGCTCACAGAGGGGGTGGGTGG GTTCACAGAGGGGGTGGGTGGGTTCACAGAGGGGGTGGGTGGGCTCACAG AGGGAGTGGGTGGGTTCACAGAGGGGGTGGGTGGGTTCACAGAGGGGGTG GGTGGGTTCACAGAGGGGGTGGGTGGGCTCACAGAGGGGGTGGGTGGGTT CACAGAGGGAGTGGGTGGGTTCACAGAGGGGGTGGGTGGGTTCACAGAGG GGGTGGGTGA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0095 a0001c0002t0003g0095	1	407	0.0025	609	c.305 others(624): Show c.305+895_305+896insTCACCCACCCCCTCTGTGAACCCACCCACC CCCTCTGTGAACCCACCCACTCCCTCTGTGAACCCACCCACCCCCTCTGT GAGCCCACCCACCCCCTCTGTGAACCCACCCACCCCCTCTGTGAACCCAC CCACCCCCTCTGTGAACCCACCCACTCCCTCTGTGAGCCCACCCACCCCC TCTGTGAACCCACCCACCCCCTCTGTGAACCCACCCACCCCCTCTGTGAG CCCACCCACCCCCTCTGTGAACCCACCCACCCCCTCTGTGAACCCACCCA CTCCCTCTGTGAACCCACCCACCCCCTCTGTGAGCCCACCCACCCCCTCT GTGAACCCACCCACTCCCTCTGTGAGCCCACCCACCCCCTCTGTGAACCC ACCCACTCCCTCTGTGAACCCACCCACCCCCTCTGTGAGCCCACCCACCC CCTCTGTGAACCCACCCACCCCCTCTGTGAGCCCACCCACCCCCTCTGTG AACCCACCCACTCCCTCTGTGAACCCACCCACTCCCTCTGTGAACCCACC CACCCCCTCTGTGAGCCCACCCACCCCCTCTGTGAACCCACCCACTCCCT CTGTGAACCCACCCACTCCCTCTGTGAGC	TMEM179	ENSG00000258986.7	transcript	ENST00000556573.6	protein_coding	1/3			chr14	TogoVar
TMPRSS2_chr21_41459305_41513158	41474530	G G	GGTGAGGG others(602): Show GGTGAGGGAGTGAGTGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAG GAGGTGAGGGGGTGAGTGAGGGGGTGAGGGGGTGAGGGAGTGAGTGAGGG GGTGGGTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAG GGGGTGAGGGGGTGAGGGAGTGAGTGAGGGGGTGGGTGAGGAGGTGAGGG GGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGGGGTGAGGGGGTGAGGGAG TGAGTGAGGGGGTGGGTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGG GGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGGGGTGAGGGGGTGAGGGAG TGAGTGAGGGGGTGGGTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGG GGTGAGTGAGGGGGTGAGGGGGTGAGGGAGTGAGTGAGGGGTTGGGTGAG GAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGGGGTGAGGG GGTGAGGGAGTGAGTGAGGGGGTGGGTGAGGAGGTGAGGGGGTGAGTGAG GAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGGTGAGTGAGGGGGTGAGG GGGTGAAGGC	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0289 a0001c0010t0001g0289	1	382	0.0026	609	c.728 others(626): Show c.728-1035_728-1034insGCCTTCACCCCCTCACCCCCTCACTCAC CCCCCTCACCTCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTCACC TCCTCACCCACCCCCTCACTCACTCCCTCACCCCCTCACCCCCTCACTCA CCCCCTCACCTCCTCACTCACCCCCTCACCTCCTCACCCAACCCCTCACT CACTCCCTCACCCCCTCACCCCCTCACTCACCCCCTCACCTCCTCACTCA CCCCCTCACCTCCTCACCCACCCCCTCACTCACTCCCTCACCCCCTCACC CCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTCACCTCCTCACTCA CCCCCTCACCTCCTCACCCACCCCCTCACTCACTCCCTCACCCCCTCACC CCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTCACCTCCTCACCCA CCCCCTCACTCACTCCCTCACCCCCTCACCCCCTCACTCACCCCCTCACC TCCTCACTCACCCCCTCACCTCCTCACCCACCCCCTCACTCACTCCCTCA CCCCCTCACCCCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTCACC TCCTCACTCACCCCCTCACTCACTCCCTCAC	TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13			chr21	TogoVar

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Search Results (Total: 10000 hits)