Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
TERT_chr5_1248167_1300068	1290067	A A	ACACGTGA others(707): Show ACACGTGACAGGGACACCCGGGGACAGTGCCTCACTCACCCTACACGTGA CAGTGACACCCGGGGACCGCGCCTCACTCACCCTACACGTGACAGGGACA CCCGGGGGCCGTGCCTCACTCACCCTGAACGTGACAGGGACACCCGGGGA CGGCGCCTCACTCACCCTACACGTGACAGGGACACCCGGGGACGGCACCT CACTCACCCTACACGTGACAGGGACACCCGGGGACGGCGCCTCACTCACC CTGCACGTGACAGGGACACGCGGGGACGGCGCCTCACTCACCCTGCACGT GACAGGGACACCCGGGGGCCTCGCGTCAATCACCCTGCACGTGACAGGGA CACCCGGGGACGGCGCCTCACTCACCCTGCACGTGACAGGGACACCCGGG GACGGTGCCTCACTCACCCTACACGTGACAGGGACACCCGGGGACCGCGC CTCACTCACCCTGAACGTGACAGGGACACCCGGGGACAGTGCCTCACTCA CCCTACACGGGACAGGGACACCCGGGGACCGTGCCTCACTCACCCTGCAC GTGACAGGGACACCCGGGGACCGCGCCTCACTCACCCTGCACGTGACAGG GACACCCGGGGACCGCGCCTCACTCACCCTGCACGTGACAGGGACACCCG GGGACCGCGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGGCCGC GCCTCACTCACCCTG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	392	0.0026	714	c.157 others(733): Show c.1573+3245_1573+3246insCAGGGTGAGTGAGGCGCGGCCCCCGG GTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCGGTCCCCGGGTGTCCCT GTCACGTGCAGGGTGAGTGAGGCGCGGTCCCCGGGTGTCCCTGTCACGTG CAGGGTGAGTGAGGCGCGGTCCCCGGGTGTCCCTGTCACGTGCAGGGTGA GTGAGGCACGGTCCCCGGGTGTCCCTGTCCCGTGTAGGGTGAGTGAGGCA CTGTCCCCGGGTGTCCCTGTCACGTTCAGGGTGAGTGAGGCGCGGTCCCC GGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGCACCGTCCCCGGGTGTCC CTGTCACGTGCAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACG TGCAGGGTGATTGACGCGAGGCCCCCGGGTGTCCCTGTCACGTGCAGGGT GAGTGAGGCGCCGTCCCCGCGTGTCCCTGTCACGTGCAGGGTGAGTGAGG CGCCGTCCCCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGTGCCGTCC CCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGCGCCGTCCCCGGGTGT CCCTGTCACGTTCAGGGTGAGTGAGGCACGGCCCCCGGGTGTCCCTGTCA CGTGTAGGGTGAGTGAGGCGCGGTCCCCGGGTGTCACTGTCACGTGTAGG GTGAGTGAGGCACTGTCCCCGGGTGTCCCTGTCACGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1291234	C C	CTCACCCT others(707): Show CTCACCCTGCACGTGACAGGGACACGCGGGGACGGCGCCTCACTCACCCT GCACGTGACAGGGACACCCGGGGGCCTCGCGTCAATCACCCTGCACGTGA CAGGGACACCCGGGGACAGTGCCTCACTCACCCTACACGTGACAGGGACA CCCGGGGACCGCGCCTCACTCACCCTGAATGTGACAGGGACACCCGGGGA CGGGGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGACGGCACCT CACTCACCCTACACGTGACAGGGACACCCGGGGACGGCGCCTCACTCACC CTACACGTGACAGGGACACCCGGGGACGGCACCTCACTCACCCTGCACGT GACAGGGACACGCGGGGACGGCGCCTCACTCACCCTGCACGTGACAGGGA CACCCGGGGGCCTCGCGTCAATCACCCTGCACGTGACAGGGACACCCGGG GACGGCGCCTCACTCACCCTACACGTGACAGGGACACCCGGGGACGGCGC CTCACTCACCCTACACGTGACAGGGACACCCGGGGACGGCGCCTCACTCA CCCTACACGTGACAGGGACACCCGGGGACGGCACCTCACTCACCCTACAC GTGACAGGGACACCCGGGGACGGCGCCTCACTCACCCTGCACGTGACAGG GACACGCGGGGACGGCGCCTCACTCACCCTGCACGTGACAGGGACACCCG GGGGCCTCGCGTCAA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG03942.hp1 HG02056.hp2 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0034 a0001c0002t0001g0042 a0001c0002t0001g0034 a0001c0002t0001g0042	2	392	0.0051	714	c.157 others(733): Show c.1573+2078_1573+2079insTTGACGCGAGGCCCCCGGGTGTCCCT GTCACGTGCAGGGTGAGTGAGGCGCCGTCCCCGCGTGTCCCTGTCACGTG CAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACGTGTAGGGTGA GTGAGGTGCCGTCCCCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGCG CCGTCCCCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGCGCCGTCCCC GGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCC CTGTCACGTGCAGGGTGATTGACGCGAGGCCCCCGGGTGTCCCTGTCACG TGCAGGGTGAGTGAGGCGCCGTCCCCGCGTGTCCCTGTCACGTGCAGGGT GAGTGAGGTGCCGTCCCCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGG CGCCGTCCCCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGTGCCGTCC CCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCCCCGTCCCCGGGTGT CCCTGTCACATTCAGGGTGAGTGAGGCGCGGTCCCCGGGTGTCCCTGTCA CGTGTAGGGTGAGTGAGGCACTGTCCCCGGGTGTCCCTGTCACGTGCAGG GTGATTGACGCGAGGCCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGA GGCGCCGTCCCCGCGTGTCCCTGTCACGTGCAGGGTGA	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15			chr5	TogoVar
TGM2_chr20_38122385_38170270	38124008	A A	ATATATAT others(707): Show ATATATATAATATACCTATTATATATATAAATATACCTATTATATATATA ATATACCTATTATATATAATATACCTATTATATATAAATATACCTATTAT ATATAATATACCTATTATATAATTATATATAATATACCTATTATATGCAT TATATATAATATACCTATTATATGCATTATATATAATATACCTATTATAT GCATTATATATAATATACCTATTATATGCATTATATATAATATACCTATT ATATGCATTTATATATAATATAACCTATTATATGCATTATATATAATATA CCTATTATATGCATTATATAATATATTATATATAATATGCATATTATATG TATTATATATTATATATATTATATATATAATATACATATTATATGTATTA TATATAATATATTATATATATAATATACATATTATATGTATTATATATTA TATATAATATACATATTATATATTATATATTATATACATATATTATATTA TATATTATATCATATTATATATTATATATTATATACATATTATATATTAT ATACATATTATATATTATATATTATATACTATTATACATATATATATATC TAAAATATATAATACACATTATATATTATATAATACACATTATATATTAT ATATATACACATTATATATTATATATAATACACATTATATATTATATATA ATACACATTATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0137 a0001c0004t0004g0137	1	360	0.0028	714	c.62 others(725): Show c.6210_*6211insATATATAATGTGTATTATATATAATATATAATGT GTATTATATATAATATATAATGTGTATATATATAATATATAATGTGTATT ATATAATATATAATGTGTATTATATATTTTAGATATATATATATGTATAA TAGTATATAATATATAATATATAATATGTATATAATATATAATATGTATA TAATATATAATATATAATATGATATAATATATAATATAATATATGTATAT AATATATAATATATAATATGTATATTATATATAATATATAATACATATAA TATGTATATTATATATATAATATATTATATATAATACATATAATATGTAT ATTATATATATAATATATATAATATATAATACATATAATATGCATATTAT ATATAATATATTATATAATGCATATAATAGGTATATTATATATAATGCAT ATAATAGGTTATATTATATATAAATGCATATAATAGGTATATTATATATA ATGCATATAATAGGTATATTATATATAATGCATATAATAGGTATATTATA TATAATGCATATAATAGGTATATTATATATAATGCATATAATAGGTATAT TATATATAATTATATAATAGGTATATTATATATAATAGGTATATTTATAT ATAATAGGTATATTATATATAATAGGTATATTATATATATAATAGGTATA TTTATATATATAATAGGTATATTATATATA	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding		3376		chr20	TogoVar
THADA_chr2_43225851_43601038	43298032	C C	CCCCGGCC others(707): Show CCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCG CCCCATCTGGGAGGGAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCA CCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGGATCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGTGTGTCAGCCCCCAGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTGGTCAGCCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA CTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGG TGAGGGGCGCCTCTG	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02451.hp1 HG02559.hp1 others(12): Show HG01981.hp1 HG02451.hp1 HG02559.hp1 HG02886.hp2 HG03139.hp2 HG03490.hp2 HG03491.hp1 HG03669.hp2 HG03704.hp2 HG03834.hp1 HG03927.hp2 HG04228.hp1 NA18906.hp2 NA19088.hp2 NA20752.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0020	a0001c0001 a0003c0003 a0003c0009 others(3): Show a0001c0001 a0003c0003 a0003c0009 a0004c0005 a0004c0015 a0020c0021	a0001c0001t0001 a0003c0003t0001 a0003c0009t0001 others(3): Show a0001c0001t0001 a0003c0003t0001 a0003c0009t0001 a0004c0005t0001 a0004c0015t0001 a0020c0021t0001	a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0054 others(12): Show a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0072 a0003c0003t0001g0138 a0003c0009t0001g0030 a0004c0005t0001g0019 a0004c0005t0001g0020 a0004c0005t0001g0027 a0004c0005t0001g0028 a0004c0005t0001g0166 a0004c0005t0001g0167 a0004c0015t0001g0067 a0004c0015t0001g0111 a0020c0021t0001g0031	15	206	0.0728	714	c.443 others(733): Show c.4439-4820_4439-4819insCAGAGGCGCCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GGCTGACCACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCTGGG GGCTGACACACCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGATCCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCCGG GCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACACCCCCACCTCCCTCCCAGATGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG	THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding	31/37			chr2	TogoVar
THBS2_chr6_169210785_169258846	169242624	C C	CCTTCCCA others(707): Show CCTTCCCACCTTCCTATCTTCCCATCTTCCCACCTTCCCACCACTCCCAC CTTCCCACCACTCCCACCTTCCCACCACTCCCACCTTCCCACCTTCCCAT CTTCCCATCTTCCCACCTTCCCACCACTCCCACCTTCCCACCACTCCCAC CTTCCCACCTTCCCACCTTCCCATCTTCCCACCTTCCCACCACTCCCACC TTCCCACCTTCCCACCTTCCCACCGCTCCCACCTTCCCACCTTCCCATCT TCCCATCTTCCCACCTTCCCACCACTCCCACCTTCCCACCTTCCCACCGC TCCCACCTTCCCACCTTCCCACTGCTCCCACCTTCCCACCTTCCCACATT CCCACCTTCCCACATTCCCACCTTCCCACCACTCCCACCTTCCCACCTTC CCACCTTCCCACTGCTCCCACCTTCCCACCTTCCCACATTCCCACCTTCC CACCTTCCCACCTTCCCACCGCTCCCACCTTCCCACCTTCCCACATTCCC ACCTTCCCACCTTCCCACTGCTCCCACCTTCCCACCTTCCCACATTCCCA CCTTCCCACCACTCCCACCTTCCCACCTTCCCACCTTCCCACCTTCCCAC TGCTCCCACCTTCCCACCTTCCCACATTCCCACCTTCCCACCTTCCCACT GCTCCCACCTTCCCACCTTCCCACATTCCCACCTTCCCACCACTCCCACC TTCCCACCTTCCCAT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02165.hp2 NA18942.hp2 others(3): Show HG02040.hp2 HG02165.hp2 NA18942.hp2 NA18945.hp2 NA18968.hp2 NA18990.hp1	a0001 a0001	a0001c0003 a0001c0009 a0001c0003 a0001c0009	a0001c0003t0002 a0001c0003t0024 a0001c0009t0002 a0001c0003t0002 a0001c0003t0024 a0001c0009t0002	a0001c0003t0002g0259 a0001c0003t0024g0260 a0001c0009t0002g0013 others(1): Show a0001c0003t0002g0259 a0001c0003t0024g0260 a0001c0009t0002g0013 a0001c0009t0002g0214	6	396	0.0152	714	c.695 others(729): Show c.695-667_695-666insATGGGAAGGTGGGAAGGTGGGAGTGGTGGG AAGGTGGGAATGTGGGAAGGTGGGAAGGTGGGAGCAGTGGGAAGGTGGGA AGGTGGGAATGTGGGAAGGTGGGAAGGTGGGAGCAGTGGGAAGGTGGGAA GGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAATGTGGGAAG GTGGGAAGGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAATGTGGGAAGG TGGGAAGGTGGGAGCGGTGGGAAGGTGGGAAGGTGGGAAGGTGGGAATGT GGGAAGGTGGGAAGGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAAGGTG GGAGTGGTGGGAAGGTGGGAATGTGGGAAGGTGGGAATGTGGGAAGGTGG GAAGGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAGCGGTGGGAAGGTGG GAAGGTGGGAGTGGTGGGAAGGTGGGAAGATGGGAAGATGGGAAGGTGGG AAGGTGGGAGCGGTGGGAAGGTGGGAAGGTGGGAAGGTGGGAGTGGTGGG AAGGTGGGAAGATGGGAAGGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGA AGGTGGGAGTGGTGGGAAGGTGGGAAGATGGGAAGATGGGAAGGTGGGAA GGTGGGAGTGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAGTGGTGGGA AGGTGGGAAGATGGGAAGATAGGAAGGTGGGAAG	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	4/21			chr6	TogoVar
THNSL2_chr2_88165346_88191627	88181113	T T	TCCCTCTC others(707): Show TCCCTCTCTCTCCTCTCTCTCCTCTCTCCTCTCTCTCTCCTCTCTCTCTC CTCTCTCCTCTCTCCTCTCTCCTCTCTCTCTCTCTCCTCTCTCTCTCCTC TCTCTCTCCTCTCTCCTCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCCC TCTCTCTCCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCCTCTCTCTCT CCTCTCTCACTCCTTCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCT CCTCTCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCC TCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCTCTCTCTCCTCTCTCTCC TCTCTCTCCTCTCTCTCTCTCCTCTCTCTTCTCTCTCTCCTCTCTCTCTC CTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCTCTCCTCTCTCTCT CCTCTCTCTCTCCTCTCTCTCCTCCTCTCTCTCTCCTCTCTCTCCTCCTC TCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCCTCTCTCTTCTCTC TCTCCTCTCTCTCTCCTCTCTCTCTCTCCTCTCTCTCTCTCTCTCTCTCT CTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCTCTCCTCTCTC TCCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTC TCTCCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	1	54	0.0185	714	c.803 others(731): Show c.803-1585_803-1584insCCTCTCTCTCCTCTCTCTCCTCTCTCCT CTCTCTCTCCTCTCTCTCTCCTCTCTCCTCTCTCCTCTCTCCTCTCTCTC TCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCCTCTCTCTCTCTCCT CTCTCTCTCCTCTCTCTCCCTCTCTCTCCTCCTCTCTCTCTCCTCTCTCT CTCCTCTCTCCTCTCTCTCTCCTCTCTCACTCCTTCTCTCTCCTCTCTCT CCTCTCTCTCTCCTCTCTCTCCTCTCTCTCTCTCTCCTCTCTCTCTCCTC TCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTC TCTCTCTCTCCTCTCTCTCCTCTCTCTCCTCTCTCTCTCTCCTCTCTCTT CTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCT CCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCCTCTCT CTCTCCTCTCTCTCCTCCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCT CTCTCCCTCTCTCTTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCTCCT CTCTCTCTCTCTCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTC TCTCCTCTCTCTCCTCTCTCTCCTCCTCTCTCTCCTCTCTCTCTCCTCTC TCTCTCCTCTCTCTCTCCTCTCTCCTCTCTCTCTCC	THNSL2	ENSG00000144115.18	transcript	ENST00000674334.2	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
TLCD5_chr11_120320299_120338686	120328773	T T	TGTGTGTG others(707): Show TGTGTGTGTGTGCGTGTATGTGTTTGTATATGTATGCATATCTGTGTCCT AATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTATGTTTATGTATGCGTATCTGTGTCCTAATCCCTTCTAAG GATAACAGTCATATTGTGTGTGTGTGTGTGTGTGTATGTGTTTGTATATG TATGCGTATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATATTGTGT GTGTGTGTGTGTGTGTGTGTGTGCGTGTATGTGTTTGTATATGTATGCAT ATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCATATCTGTGTC CTAATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTGTGT GTGTGTATGTGTTTGTATATGTATGCGTATCTGTGTCCTAATCCCTTCTA AGGATAACAGTCATATTGTGTGTGTGTGTGTGTATGTGTATGTGTTTGTA TATGTATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTAT GCATACCTGTGTCCTAATCCCTTGTAAGGATAACAGTCATATTGTGTGTG TGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0213 a0001c0001t0002g0213	1	432	0.0023	714	c.199 others(731): Show c.199+1138_199+1139insTGTGTGCGTGTATGTGTTTGTATATGTA TGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCGTATCTGTGT CCTAATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTGTG TATGTGTTTGTATATGTATGCGTATCTGTGTCCTAATCCCTTCTAAGGAT AACAGTCATATTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGTGTATGTGT TTGTATATGTATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTC ATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATG TATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATATTGTGT GTGTGTGTGTGTGTGTGTGTGTATGTGTTTGTATATGTATGCGTATCTGT GTCCTAATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTA TGTGTATGTGTTTGTATATGTATGCATATCTGTGTCCTAATCCCTTCTAA GGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTATGTTTATGTATGCATACCTGTGTCCTAATCCCTTGTAAGGATAAC AGTCATATTGTGTGTGTGTGTGTGTGTGCGCGTGTG	TLCD5	ENSG00000181264.9	transcript	ENST00000375095.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
TMC6_chr17_78102397_78133755	78115786	G G	GGCGAAGG others(707): Show GGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGG AGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCA CAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCG AAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGT GGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAG GAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAG GGAGTGGGCACAGGG	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0118 a0002c0002t0002g0118	1	444	0.0023	714	c.227 others(733): Show c.2277+1482_2277+1483insCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACT CCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCTCC TGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGT GCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTC CCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCC CCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCC CACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCT TCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCT GTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115828	G G	GGCGAAGG others(707): Show GGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGA GCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGG AGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCA CAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCG AAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGT GGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAG GGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAG GGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0397 a0003c0003t0001g0397	1	444	0.0023	714	c.227 others(733): Show c.2277+1440_2277+1441insTCCTGTGCCCACTCCCTTCGCTCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGT GCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTC CCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCC CCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCC CACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCT TCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCT GTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMEM120B_chr12_121707752_121787068	121747337	G G	GTAGAAGG others(707): Show GTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGATAGAAGG CGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCAC TGGGATAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCACTGGGATAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGTGGGAG GCACTGGGATAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGG AGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCACTGGGATAGAAGGCG GGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTG GGATAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCACTGGGA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0177 a0002c0002t0001g0177	1	314	0.0032	714	c.189 others(729): Show c.189-987_189-986insGAAGGCGGGAGGCTGGGGTAGAAGGTGGGA GGCACTGGGATAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGG TAGAAGGTGGGAGGCACTGGGATAGAAGGCGGGAGGCTGGGGTAGAAGGT GGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGATAGAAGGCGGGAGGCT GGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAG GCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCT GGGGTAGAAGGTGGGAGGCACTGGGATAGAAGGTGGGAGGCTGGGGTAGA AGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGG CTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGA AGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGT CTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGA AGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGG CACTGGGATAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTA GAAGGTGGGAGGCACTGGGATAGAAGGCGGGAGGCTGGGGTAGAAGGTGG GAGGCTGGGGTAGAAGGTGGGAGGCACTGGGATA	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747411	G G	GCACTGGG others(707): Show GCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGTCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGTCTGGGGTAGAAGG TGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC ACTGGGGTAGAAGGTGGGAGTCTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGCGGGAGGCA	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0081 a0001c0001t0081	a0001c0001t0081g0108 a0001c0001t0081g0108	1	314	0.0032	714	c.189 others(729): Show c.189-914_189-913insACTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGTGGGAG GCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTG GGAGTCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGTCTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGG AGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCAC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747510	G G	GTCTGGGG others(707): Show GTCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGG TAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGT GGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCT GGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAG GTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCT GGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGA AGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGG CTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTA GAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGA GGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTA GAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGG GAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGG TAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGG GAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGG TAGAAGGTGGGAGGC	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0188 a0002c0002t0010g0188	1	314	0.0032	714	c.189 others(729): Show c.189-816_189-815insTCTGGGGTAGAAGGCGGGAGGCACTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTG GGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAA GGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAG AAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11			chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747510	G G	GTCTGGGG others(707): Show GTCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGG TAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGG GAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACT GGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAG GTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCT GGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGA AGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGG CTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTA GAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGA GGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTA GAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGA GGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGG TAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGG GAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGG TAGAAGGTGGGAGGC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0048 a0002c0002t0048	a0002c0002t0048g0089 a0002c0002t0048g0089	1	314	0.0032	714	c.189 others(729): Show c.189-816_189-815insTCTGGGGTAGAAGGCGGGAGGCACTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGG CGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11			chr12	TogoVar
TMEM179_chr14_104585864_104609772	104603541	G G	GGCTCACA others(707): Show GGCTCACAGAGGGAGTGGGTGGGTTCACAGAGGGAGTGGGTGGGTTCACA GAGGGGGTGGGTGGGCTCACAGAGGGGGTGGGTGGGTTCACAGAGGGAGT GGGTGGGTTCACAGAGGGAGTGGGTGGGTTCACAGAGGGAGTGGGTGGGT TCACAGAGGGGGTGGGTGGGCTCACAGAGGGGGTGGGTGGGTTCACAGAG GGGGTGGGTGGGCTCACAGAGGGGGTGGGTGGGTTCACAGAGGGAGTGGG TGGGTTCACAGAGGGGGTGGGTGGGCTCACAGAGGGAGTGGGTGGGTTCA CAGAGGGGGTGGGTGGGCTCACAGAGGGGGTGGGTGGGTTCACAGAGGGA GTGGGTGGGTTCACAGAGGGGGTGGGTGGGTTCACAGAGGGGGTGGGTGG GCTCACAGAGGGGGTGGGTGGGTTCACAGAGGGGGTGGGTGGGTTCACAG AGGGGGTGGGTGGGCTCACAGAGGGAGTGGGTGGGTTCACAGAGGGGGTG GGTGGGTTCACAGAGGGAGTGGGTGGGTTCACAGAGGGGGTGGGTGGGCT CACAGAGGGAGTGGGTGGGTTCACAGAGGGGGTGGGTGGGTTCACAGAGG GGGTGGGTGGGTTCACAGAGGGGGTGGGTGGGCTCACAGAGGGGGTGGGT GGGTTCACAGAGGGAGTGGGTGGGTTCACAGAGGGGGTGGGTGGGTTCAC AGAGGGGGTGGGTGA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0096 a0001c0002t0003g0096	1	407	0.0025	714	c.305 others(729): Show c.305+895_305+896insTCACCCACCCCCTCTGTGAACCCACCCACC CCCTCTGTGAACCCACCCACTCCCTCTGTGAACCCACCCACCCCCTCTGT GAGCCCACCCACCCCCTCTGTGAACCCACCCACCCCCTCTGTGAACCCAC CCACCCCCTCTGTGAACCCACCCACTCCCTCTGTGAGCCCACCCACCCCC TCTGTGAACCCACCCACTCCCTCTGTGAACCCACCCACCCCCTCTGTGAA CCCACCCACTCCCTCTGTGAGCCCACCCACCCCCTCTGTGAACCCACCCA CCCCCTCTGTGAACCCACCCACCCCCTCTGTGAGCCCACCCACCCCCTCT GTGAACCCACCCACCCCCTCTGTGAACCCACCCACTCCCTCTGTGAACCC ACCCACCCCCTCTGTGAGCCCACCCACCCCCTCTGTGAACCCACCCACTC CCTCTGTGAGCCCACCCACCCCCTCTGTGAACCCACCCACTCCCTCTGTG AACCCACCCACCCCCTCTGTGAGCCCACCCACCCCCTCTGTGAACCCACC CACCCCCTCTGTGAGCCCACCCACCCCCTCTGTGAACCCACCCACTCCCT CTGTGAACCCACCCACTCCCTCTGTGAACCCACCCACTCCCTCTGTGAAC CCACCCACCCCCTCTGTGAGCCCACCCACCCCCTCTGTGAACCCACCCAC TCCCTCTGTGAACCCACCCACTCCCTCTGTGAGC	TMEM179	ENSG00000258986.7	transcript	ENST00000556573.6	protein_coding	1/3			chr14	TogoVar
TMEM242_chr6_157284025_157328519	157311612	G G	GTCCCAGT others(707): Show GTCCCAGTGTGCACTCAGCTAGCCTCATCATAGAGTCCCAGTGCGCACTC ACCTAGCCTCATCATAGTGTCCCAGGGTGCGCTCATCCAGCCTCATCATA GTGTCGCAGTGTGCACTCACCTAGACTCATCATAGTGTCCCAGTGTGCAA TCACCTAGCCTCATCATAGTGCCGCAGTGTGCGCTCACCTGGCCTCAACA TACTGTCCCAGTGTGCGGTCACCTAGCCTCATCATAGTGTCCCAGTGTGC GCTCACCTGGACTCATCATAGTACCGCAGTGTGCACTCACCTGGCCTCAT CATAGTGTCCCAGTGTCCGCTCACCGAGCATCATCATAGGGCCCCAGTGT GCGCTCACCCGGCCTCATCATAGTGCCCCACTATGCCCTCACCGGGCCTC ATGATAGTGTCCCAGTGTGCACTCACCTGGCCTGATCATAGTGTCGCAGT GTGCATTCACCTAGCCTCATCATAGTGCCCCAGTGTGCACTCACCTAGGC TCAACATAGTGTCCCAGTGTGCGCTCACCTAGCCTCATCATAGTGTCACA GTGTGCCCTCAGCCGGCCTCATCATAGTGTCCCAGTGTGCGCTCACCCGG CCTCATAACAGTGCCCCAGTGTGCGCTCACCTGGCCTCGTCATAGTGTCC CACTGTGCATTCACCTGGCCTCATCATAGTGTCCCAGTGTGCATTCATCT GGCCTCATCATAGTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02922.hp2 HG03195.hp2 others(3): Show HG02717.hp1 HG02922.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0005 a0001c0001t0007	a0001c0001t0005g0070 a0001c0001t0007g0068 a0001c0001t0007g0069 others(3): Show a0001c0001t0005g0070 a0001c0001t0007g0068 a0001c0001t0007g0069 a0001c0001t0007g0071 a0001c0001t0007g0072 a0001c0001t0007g0073	6	344	0.0174	714	c.327 others(731): Show c.327+7169_327+7170insAACTATGATGAGGCCAGATGAATGCACA CTGGGACACTATGATGAGGCCAGGTGAATGCACAGTGGGACACTATGACG AGGCCAGGTGAGCGCACACTGGGGCACTGTTATGAGGCCGGGTGAGCGCA CACTGGGACACTATGATGAGGCCGGCTGAGGGCACACTGTGACACTATGA TGAGGCTAGGTGAGCGCACACTGGGACACTATGTTGAGCCTAGGTGAGTG CACACTGGGGCACTATGATGAGGCTAGGTGAATGCACACTGCGACACTAT GATCAGGCCAGGTGAGTGCACACTGGGACACTATCATGAGGCCCGGTGAG GGCATAGTGGGGCACTATGATGAGGCCGGGTGAGCGCACACTGGGGCCCT ATGATGATGCTCGGTGAGCGGACACTGGGACACTATGATGAGGCCAGGTG AGTGCACACTGCGGTACTATGATGAGTCCAGGTGAGCGCACACTGGGACA CTATGATGAGGCTAGGTGACCGCACACTGGGACAGTATGTTGAGGCCAGG TGAGCGCACACTGCGGCACTATGATGAGGCTAGGTGATTGCACACTGGGA CACTATGATGAGTCTAGGTGAGTGCACACTGCGACACTATGATGAGGCTG GATGAGCGCACCCTGGGACACTATGATGAGGCTAGGTGAGTGCGCACTGG GACTCTATGATGAGGCTAGCTGAGTGCACACTGGGA	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM242_chr6_157284025_157328519	157313148	G G	GCTCACCT others(707): Show GCTCACCTAGCCTCATCATAGTGCCCCAGTGTGCACTCACCTAGCCTCAA CATAGTGCCCCAGTGTGCGTTGACCTGGCCTCATTATAGTGCCCCAGTGT GCACTCACCAAGCCTCATCATAGTGCCCCAGTGTGCACTCACCTGGCCTC ATCATAGGATCCCAGTGTCTGCTCACCTGGCCTCATCATAGTGTCCCAGT GTGCGCTCACCCGGCCTCATCATAGTGCCCCAGAATGCGCTCCCCTGGCC TCATCATAGTGCCCCAGTGAGCGCGCACCCAGCCTCATCATAGTGCCGCA GTGTGCGCTCACGTGACTTCAACATAGTGTCCCAGTGTGCACTCACCCGG CCTCATCATAGTACCCCAGTGTGCACTCACCTGGCCTCATCATACTGTCC CAATGTGCACTCACCTGGCCTCATCATAGTGTCCCAGGGTGCAATCACCA GGCCTCATCATAGTGTCCCAGTGTCCGCTCACCTGGCCTCATCATAGTGC GCCAGTGTGTGCTCAACTAGCCTCATCATAGTGCCCCATTGTGCGCTCAT CTACCCTCATCATAGTGTCCCAGTGTGCACTCACCTGGCCTCATCATACT GTCCCAGTGTGCGCTCACCTAGCCTCATCATAGTGTCCCAGTGTGCACTC ACCCGGTCTCATGATAGTGTCCCAGTGTGCGCTGACCTAGCCTCATCATA GTGTCCCAGTGTGCA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02132.hp2 HG02293.hp2 others(7): Show HG01981.hp1 HG02132.hp2 HG02293.hp2 HG02717.hp2 HG02818.hp2 HG02886.hp1 HG03486.hp1 NA19043.hp2 NA19068.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0021 a0001c0001t0002 a0001c0001t0005 a0001c0001t0021	a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 others(6): Show a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0253 a0001c0001t0002g0266 a0001c0001t0005g0051 a0001c0001t0005g0052 a0001c0001t0005g0053 a0001c0001t0021g0002	10	344	0.0291	714	c.327 others(731): Show c.327+5633_327+5634insTGCACACTGGGACACTATGATGAGGCTA GGTCAGCGCACACTGGGACACTATCATGAGACCGGGTGAGTGCACACTGG GACACTATGATGAGGCTAGGTGAGCGCACACTGGGACAGTATGATGAGGC CAGGTGAGTGCACACTGGGACACTATGATGAGGGTAGATGAGCGCACAAT GGGGCACTATGATGAGGCTAGTTGAGCACACACTGGCGCACTATGATGAG GCCAGGTGAGCGGACACTGGGACACTATGATGAGGCCTGGTGATTGCACC CTGGGACACTATGATGAGGCCAGGTGAGTGCACATTGGGACAGTATGATG AGGCCAGGTGAGTGCACACTGGGGTACTATGATGAGGCCGGGTGAGTGCA CACTGGGACACTATGTTGAAGTCACGTGAGCGCACACTGCGGCACTATGA TGAGGCTGGGTGCGCGCTCACTGGGGCACTATGATGAGGCCAGGGGAGCG CATTCTGGGGCACTATGATGAGGCCGGGTGAGCGCACACTGGGACACTAT GATGAGGCCAGGTGAGCAGACACTGGGATCCTATGATGAGGCCAGGTGAG TGCACACTGGGGCACTATGATGAGGCTTGGTGAGTGCACACTGGGGCACT ATAATGAGGCCAGGTCAACGCACACTGGGGCACTATGTTGAGGCTAGGTG AGTGCACACTGGGGCACTATGATGAGGCTAGGTGAG	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TNK2_chr3_195858364_195913551	195880769	C C	CCCCCCCC others(707): Show CCCCCCCCAGCAATGCCCCTTGGAGAGGACACAGCATCTATCCCTGTAAC ACCCCCCCCAGCAATGCCCCTTGGAGAGGACACAGCATCTAACCCTGTAA CACCCGCCCCCCAGCAATGCCCCTCGGAGAGGACACAGCATCTATCCCTG TAACACCCCCCCAGCAATGCCCCTTGGAGAGGACACAGCATCTATCCCTG TAACACCCCCCCAGCAATGCCCCTTGGAGAGGACACAGCATCTATCCCTG TAACACCCCCCCAGCAATGCCCCTCGGAGAGGACACAGCATCTATCCCTG TAACACCCCCCCCAGCAATGCCCCTTGGAGAGGACACAGCATCTAACCCT GTAACACCCGCCCCCCAGCAATGACCCTCGGAGAGGACACAGCATCTATC CCTGTAACACCCCCCCAGCAATGCCCCTTGGAGAGGACACAGCATCTATC CCTGTAACACCCCCCCCAGCAATGCCCCTTGGAGAGGACACAGCATCTAT CCCTGTAACACCCCCCCCAGCAATGCCCCTTGGAGAGGACACAGCATCTA ACCCTGTAACACCCGCCCCCCAGCAATGCCCCTCGGAGAGGACACAGCAT CTATCCCTGTAACACCCCCCCAGCAATGCCCCTTGAAGAGGACACAGCAT ATATCCCTGTATCACCTAACTCAGCAATGACCCTCGGAGAGGACACAGCA TCTATCCCTGTAACA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0308 a0001c0001t0001g0308	1	372	0.0027	714	c.887 others(731): Show c.887+1281_887+1282insTGTTACAGGGATAGATGCTGTGTCCTCT CCGAGGGTCATTGCTGAGTTAGGTGATACAGGGATATATGCTGTGTCCTC TTCAAGGGGCATTGCTGGGGGGGTGTTACAGGGATAGATGCTGTGTCCTC TCCGAGGGGCATTGCTGGGGGGCGGGTGTTACAGGGTTAGATGCTGTGTC CTCTCCAAGGGGCATTGCTGGGGGGGGTGTTACAGGGATAGATGCTGTGT CCTCTCCAAGGGGCATTGCTGGGGGGGGTGTTACAGGGATAGATGCTGTG TCCTCTCCAAGGGGCATTGCTGGGGGGGTGTTACAGGGATAGATGCTGTG TCCTCTCCGAGGGTCATTGCTGGGGGGCGGGTGTTACAGGGTTAGATGCT GTGTCCTCTCCAAGGGGCATTGCTGGGGGGGGTGTTACAGGGATAGATGC TGTGTCCTCTCCGAGGGGCATTGCTGGGGGGGTGTTACAGGGATAGATGC TGTGTCCTCTCCAAGGGGCATTGCTGGGGGGGTGTTACAGGGATAGATGC TGTGTCCTCTCCAAGGGGCATTGCTGGGGGGGTGTTACAGGGATAGATGC TGTGTCCTCTCCGAGGGGCATTGCTGGGGGGCGGGTGTTACAGGGTTAGA TGCTGTGTCCTCTCCAAGGGGCATTGCTGGGGGGGGTGTTACAGGGATAG ATGCTGTGTCCTCTCCAAGGGGCATTGCTGGGGGGG	TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	6/15			chr3	TogoVar
TP53AIP1_chr11_128930370_128947871	128930878	G G	GGGGTTAG others(707): Show GGGGTTAGGGAGGCCTAGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGG TTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGTTGG GGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGG CCAGGGGTTGGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGG GGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTA GGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAG GCCAGGGGTTGGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCG GGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTT AGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGA GACCAGGGGTTAGGGAGGCCGGGGGTAGGGAGGCTGGGGGTTAGGGAGGC CGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGGTTAGGGAGGCTGG GGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGTT AGGGAGGCCAGGGTTAAGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGA GGCCAGGGGTTAGGGAGGCCAGGGTTAGGGAGGCCGGGGTTAGGGAGGCC AGGGTTAGGGAGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	466	0.0022	714	c.47 others(725): Show c.4712_*4713insGGCCTCCCTAACCCTGGCCTCCCTAACCCCGGCC TCCCTAACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCC TAACCCCGGCCTCCTTAACCCTGGCCTCCCTAACCCCTGGCCTCCCTAAC CCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCTG GCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTCCCTAACCCCCAGCC TCCCTACCCCCGGCCTCCCTAACCCCTGGTCTCCCTAACCCCGGCCTCCC TAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACC CCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGC CTCCCTAACCCCGGCCTCCCCAACCCCTGGCCTCCCTAACCCCGGCCTCC CTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAAC CCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGG CCTCCCTAACCCCGGCCTCCCCAACCCCTGGCCTCCCTAACCCCGGCCTC CCTAACCCCGGCCTCCCTAACCCCGGCCTCCCCAACCCCTGGCCTCCCTA ACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCC GGCCTCCCTAACCCTAGGCCTCCCTAACCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4491		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273358	T T	TTATATAT others(707): Show TTATATATATAAAAATTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATAAAAATTATATATATTATATATATAAAAATTA TATATATATTATATATATAAAAATTATATATATATTATATATATATAAAA ATTATATATATATTATATATATATAAAAATTATATATATATTATATATAT ATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTAT ATATATATAAAAATTATATATATATTATATATATATAAAAATTATATATA TATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTA TATATATATTATATATATATAAAAATTATATATATATTATATATATATAA AAATTATATATATATTATATATATATAAAAATTATATATATATTATATAT ATAAAAAAATTATATATATATTATATATATATAAAAATTATATATATATT ATATATATATAAAAATTATATATATAATATATATATAAAAATTATATATA TAATATATATATAAAAATTATATATATATTATATATATATAAAAATTATA TATATATTATATATATATAAAAATTATATATATATTGTATATATATAAAA ATTATATATATATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	272	0.0037	714	c.29 others(725): Show c.2923_*2924insTATATATATAAAAATTATATATATATTATATATA TATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTA TATATATATAAAAATTATATATATATTATATATAAAAATTATATATATTA TATATATAAAAATTATATATATATTATATATATAAAAATTATATATATAT TATATATATATAAAAATTATATATATATTATATATATATAAAAATTATAT ATATATTATATATATATAAAAATTATATATATATTATATATATATAAAAA TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATTATATATATAAAAAAATTATATATATATTATATATATATAAA AATTATATATATATTATATATATATAAAAATTATATATATAATATATATA TAAAAATTATATATATAATATATATATAAAAATTATATATATATTATATA TATATAAAAATTATATATATATTATATATATATAAAAATTATATATATAT TGTATATATATAAAAATTATATATATATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2245		chr11	TogoVar
TRIO_chr5_14138342_14515204	14347035	T T	TGGACCTG others(707): Show TGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAG GCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCA GGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTC AGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCT CAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATC TCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCAT CTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCA TCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTC ATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGT CATCTCAGGCGGACGTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAG TCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCA GTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACC AGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGAC CAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGA CCAGTCATCTCAGGC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00609.hp1 HG01069.hp2 others(18): Show HG00408.hp2 HG00609.hp1 HG01069.hp2 HG01071.hp2 HG01192.hp1 HG01256.hp1 HG01258.hp1 HG02165.hp2 HG02683.hp1 HG03017.hp1 HG03239.hp1 HG03491.hp2 HG03704.hp2 HG03942.hp1 HG04199.hp1 NA18522.hp1 NA18942.hp1 NA18968.hp1 NA19000.hp2 NA19011.hp1 NA19080.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0001c0002 a0001c0006 others(4): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007 a0001c0044 a0001c0051 a0009c0045	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0006t0001 a0001c0007t0001 a0001c0044t0001 a0001c0051t0001 a0009c0045t0001	a0001c0001t0001g0142 a0001c0002t0001g0014 a0001c0002t0001g0050 others(18): Show a0001c0001t0001g0142 a0001c0002t0001g0014 a0001c0002t0001g0050 a0001c0002t0001g0079 a0001c0002t0001g0095 a0001c0002t0001g0100 a0001c0002t0002g0015 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0041 a0001c0002t0002g0042 a0001c0002t0002g0054 a0001c0002t0002g0057 a0001c0002t0002g0068 a0001c0006t0001g0153 a0001c0007t0001g0013 a0001c0007t0001g0018 a0001c0007t0001g0087 a0001c0044t0001g0025 a0001c0051t0001g0032 a0009c0045t0001g0035	21	198	0.1061	714	c.204 others(735): Show c.2046+10613_2046+10614insCGGACCTGAGGTCCTGCAGAACAG AGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACA GAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAAC AGAGATGATGCTGGACCAGTCATCTCAGGCGGACGTGAGGTCCTGCAGAA CAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGA ACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAG AACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCA GAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGC AGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTG CAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCT GCAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCC TGCAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTC CTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGT CCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGG TCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAGG	TRIO	ENSG00000038382.23	transcript	ENST00000344204.9	protein_coding	11/56		INFO_REALIGN_3_PRIME	chr5	TogoVar
TRIO_chr5_14138342_14515204	14347035	T T	TGGACCTG others(707): Show TGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAG GCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCA GGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTC AGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCT CAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATC TCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCAT CTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCA TCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTC ATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGT CATCTCAGGCGGACGTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAG TCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCA GTCATCTCAGGCGGACGTGAGGTCCTGCAGAACAGAGATGATGCTGGACC AGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGAC CAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGA CCAGTCATCTCAGGC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0063 a0001c0002t0004g0063	1	198	0.0051	714	c.204 others(735): Show c.2046+10613_2046+10614insCGGACCTGAGGTCCTGCAGAACAG AGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACA GAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAAC AGAGATGATGCTGGACCAGTCATCTCAGGCGGACGTGAGGTCCTGCAGAA CAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGA ACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACGTGAGGTCCTGCAG AACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCA GAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGC AGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTG CAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCT GCAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCC TGCAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTC CTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGT CCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGG TCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAGG	TRIO	ENSG00000038382.23	transcript	ENST00000344204.9	protein_coding	11/56		INFO_REALIGN_3_PRIME	chr5	TogoVar
TRIO_chr5_14138342_14515204	14347035	T T	TGGACCTG others(707): Show TGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAG GCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCA GGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTC AGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCT CAGGCGGACCTGAGGTCCTGCAGAACAGAGATTATGCTGGACCAGTCATC TCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCAT CTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCA TCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTC ATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGT CATCTCAGGCGGACGTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAG TCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCA GTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACC AGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGAC CAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGA CCAGTCATCTCAGGC	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0053 a0001c0007t0001g0053	1	198	0.0051	714	c.204 others(735): Show c.2046+10539_2046+10540insTATGCTGGACCAGTCATCTCAGGC GGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAGG CGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAG GCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCA GGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTC AGGCGGACGTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCT CAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATC TCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCAT CTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCA TCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTC ATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGT CATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAG TCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCA GTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACC AGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGAT	TRIO	ENSG00000038382.23	transcript	ENST00000344204.9	protein_coding	11/56		INFO_REALIGN_3_PRIME	chr5	TogoVar
TRIO_chr5_14138342_14515204	14347040	C C	CTGAGGTC others(707): Show CTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGA CCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGG ACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCG GACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAGGC GGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAGG CGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAG GCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCA GGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTC AGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCT CAGGCGGACGTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATC TCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCAT CTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCA TCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTC ATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGT CATCTCAGGCGGACG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0006 a0006	a0006c0046 a0006c0046	a0006c0046t0001 a0006c0046t0001	a0006c0046t0001g0052 a0006c0046t0001g0052	1	198	0.0051	714	c.204 others(735): Show c.2046+10613_2046+10614insCGGACCTGAGGTCCTGCAGAACAG AGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACA GAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAAC AGAGATGATGCTGGACCAGTCATCTCAGGCGGACGTGAGGTCCTGCAGAA CAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGA ACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAG AACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCA GAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGC AGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACGTGAGGTCCTG CAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCT GCAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCC TGCAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTC CTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGT CCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGG TCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAGG	TRIO	ENSG00000038382.23	transcript	ENST00000344204.9	protein_coding	11/56		INFO_REALIGN_3_PRIME	chr5	TogoVar
TRIO_chr5_14138342_14515204	14347322	C C	CTGGACCA others(707): Show CTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGAT GATGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGA TGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATG ATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGAT GATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGA TGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAG ATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGA GATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAG AGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACA GAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAAC AGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAA CAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGA ACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAG AACAGAGATGATGATGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCA GAACAGAGATGATGA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0097 a0001c0005t0001g0097	1	198	0.0051	714	c.204 others(735): Show c.2046+10613_2046+10614insCGGACCTGAGGTCCTGCAGAACAG AGATGATGATGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACA GAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAAC AGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAA CAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGA ACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAG AACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCA GAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGC AGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTG CAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCT GCAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCC TGCAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTC CTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGT CCTGCAGAACAGAGATGATGATGGACCAGTCATCTCAGGTGGACCTGAGG TCCTGCAGAACAGAGATGATGATGGACCAGTCATCTCAGG	TRIO	ENSG00000038382.23	transcript	ENST00000344204.9	protein_coding	11/56		INFO_REALIGN_3_PRIME	chr5	TogoVar
TWIST2_chr2_238843085_238915534	238870175	C C	CACACACA others(707): Show CACACACACCACACCCCACACACACCCCACACACACCACACACCCCACAC ACACCACACACCCCACACACACCACACACCCCACACACACCACACCCCAT ACACACCACACAAACCACACACCCTACACACCCCACACACACCACACACC ACACACACACCACACCCCATACACACCACACCCCACACACACCACACCCC ACACACACCCCACACACACCACACACCCCACACACACCACACACCCCATA CACACCACACCCCACACACACCCCACACACACCACACACCCCACACACAC CACACCCCACACACACCACACACCCCACACACACCACACACCCCACACAC AGCACACACCCCACACACACCACACACCCCACACACACCACACCCCACAC ACACCACACCCCACACACACCACACACCCCACACACACCACACACCACAC ACACACCACACACCACACACCCCACACACACCACACACACCACACCCCAT ACACACCACACCCCATACACACCACACCCCACACACACCACACACCCCAC ACACACCACACACCCCACACACACCACACACCCCACACACACCACACAAA CCACACACCCCACACACACCACACACACCACACACCCCACACACACCACA CCCCATACACACCACACCCCACACACACCACACACCCCACACACACCACA CACACACATCACATA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	338	0.0030	714	c.35 others(733): Show c.35+21442_*35+21443insACACACACCACACCCCACACACACCC CACACACACCACACACCCCACACACACCACACACCCCACACACACCACAC ACCCCACACACACCACACCCCATACACACCACACAAACCACACACCCTAC ACACCCCACACACACCACACACCACACACACACCACACCCCATACACACC ACACCCCACACACACCACACCCCACACACACCCCACACACACCACACACC CCACACACACCACACACCCCATACACACCACACCCCACACACACCCCACA CACACCACACACCCCACACACACCACACCCCACACACACCACACACCCCA CACACACCACACACCCCACACACAGCACACACCCCACACACACCACACAC CCCACACACACCACACCCCACACACACCACACCCCACACACACCACACAC CCCACACACACCACACACCACACACACACCACACACCACACACCCCACAC ACACCACACACACCACACCCCATACACACCACACCCCATACACACCACAC CCCACACACACCACACACCCCACACACACCACACACCCCACACACACCAC ACACCCCACACACACCACACAAACCACACACCCCACACACACCACACACA CCACACACCCCACACACACCACACCCCATACACACCACACCCCACACACA CCACACACCCCACACACACCACACACACACATCACATA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
ZBTB34_chr9_126855639_126890878	126876166	C C	CCCCCCTT others(707): Show CCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTCCCCC TTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCC TTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCT TCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCC CCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCC TTCCCCCTTCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCC CCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCTT CCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCCTTTCCC CCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT CCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCC CCTTCCCCCCTTCCCCCGTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT CCTCCTTCCCCCCTT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	1	246	0.0041	714	c.-10 others(731): Show c.-10-3209_-10-3208insCCCCCCTTCCCCCTTCCCCCTTCCCCCC TCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCC CCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCT TCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCC CCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT CCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCC TTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCC CCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT TCCCCCTTCCCCCTTCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCC TTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTC CCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCC TTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCC CCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCC CTTCCCCCTTCCCCCCTTCCCCCGTTCCCCCTTCCCCCCTTCCCCCTTCC CCCCTTCCTCCTTCCCCCCTTCCCCCTTCCCCCCTT	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr9	TogoVar
ZNF627_chr19_11592483_11624161	11613137	C C	CCCCCTCC others(707): Show CCCCCTCCCCTCCCCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTCCTCT CCTCCTCCCTCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCC CCTTCTTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCTC CTCTCCTCCTCCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCCCT CCCCTCCCCCTTCCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCC CCTTCCCCTTCCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCTTCCCT CCTCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTCCCCTCCCC TACCCTCCTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCCTCCT CCTCCCCCTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCTCCCCT CTCCCCTCCCCTCCCCCTCCCCTCCCCTTCCCCTCTCTTCCTCTCCCCTT CCCCTCCCCTCCCCTCCCCCTCTCCTCCCCCTCCTCTTCCCCTCTCCTCC CCTCCCCCCTCCCCCTTCTCCCCTCTCCCCTCCCCTCCCCTTCCCTTCTC CTCCCCTCCTCCCTCCCCTCCCCATCTTCCCTCCCCTCCCCATCTTCCCT CCCCTCTACTCCCGTCACCTGTCCCTCCCCTCTCCTCCCCTCACCTGTCC CTCCCCTCTCCCCTT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0296 a0001c0001t0009g0296	1	322	0.0031	714	c.4-1 others(727): Show c.4-1386_4-1385insTCCCCTCCCCCTTCCTCATCCCCTTCCCCCTC CCCTTCTTCCTCTCCTCCTCCCTCCCCCCCTCCCCTTCCCTCCTCCCTCC CCCCTCCCCTCCCCCTTCTTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCT CCTCCCCTTCCTCCTCTCCTCCTCCCTCCCCCTCCCCTCCCCCTTCCCTC CTCCCTCCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCCCCTCCCCTCC CCCTTCCTCCTCCCCTTCCCCTTCCCCTTCCTCCTCTCCTCCTCCCTCCC CTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCTCC CCCTCCCCTCCCCTACCCTCCTCCCTCCCCTTCCCTCCTCCCTCCCCCTC CCCGTCCCCTCCTCCTCCCCCTCCCCCTCCTCCCTCCCCCTCCCCTCCTC CCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCTTCCCCTCTC TTCCTCTCCCCTTCCCCTCCCCTCCCCTCCCCCTCTCCTCCCCCTCCTCT TCCCCTCTCCTCCCCTCCCCCCTCCCCCTTCTCCCCTCTCCCCTCCCCTC CCCTTCCCTTCTCCTCCCCTCCTCCCTCCCCTCCCCATCTTCCCTCCCCT CCCCATCTTCCCTCCCCTCTACTCCCGTCACCTGTCCCTCCCCTCTCCTC CCCTCACCTGTCCCTCCCCTCTCCCCTTCCCC	ZNF627	ENSG00000198551.10	transcript	ENST00000361113.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF627_chr19_11592483_11624161	11613145	C C	CCCTCCCC others(707): Show CCCTCCCCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTCCTCTCCTCCTC CCTCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCCCCCCCTTCTTC CTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCTCCTCTCCTC CTCCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCC CCTTCCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCCC TTCCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCTTCCCTCCTCCCTC CCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTCCCCTCCCCTACCCTCC TCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCCTCCTCCTCCCCC TCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCTCCCCTCTCCCCTC CCCTCCCCCTCCCCTCCCCTTCCCCTCTCTTCCTCTCCCCTTCCCCTCCC CTCCCCTCCCCCTCTCCTCCCCCTCCTCTTCCCCTCTCCTCCCCTCCCCC CTCCCCCTTCTCCCCTCTCCCCTCCCCTCCCCTTCCCTTCTCCTCCCCTC CTCCCTCCCCTCCCCATCTTCCCTCCCCTCCCCATCTTCCCTCCCCTCTA CTCCCGTCACCTGTCCCTCCCCTCTCCTCCCCTCACCTGTCCCTCCCCTC TCCCCTTCCCCCTCA	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0266	1	322	0.0031	714	c.4-1 others(727): Show c.4-1376_4-1375insCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTC CTCTCCTCCTCCCTCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCC CCCCCTTCTTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTC CTCCTCTCCTCCTCCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCC CCTCCCCTCCCCCTTCCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCC TCCCCTTCCCCTTCCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCTTC CCTCCTCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTCCCCTC CCCTACCCTCCTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCCT CCTCCTCCCCCTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCTCC CCTCTCCCCTCCCCTCCCCCTCCCCTCCCCTTCCCCTCTCTTCCTCTCCC CTTCCCCTCCCCTCCCCTCCCCCTCTCCTCCCCCTCCTCTTCCCCTCTCC TCCCCTCCCCCCTCCCCCTTCTCCCCTCTCCCCTCCCCTCCCCTTCCCTT CTCCTCCCCTCCTCCCTCCCCTCCCCATCTTCCCTCCCCTCCCCATCTTC CCTCCCCTCTACTCCCGTCACCTGTCCCTCCCCTCTCCTCCCCTCACCTG TCCCTCCCCTCTCCCCTTCCCCCTCACCTCCC	ZNF627	ENSG00000198551.10	transcript	ENST00000361113.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF627_chr19_11592483_11624161	11613145	C C	CCCTCCCC others(707): Show CCCTCCCCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTCCTCTCCTCCTC CCTCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCTT CCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCTCCTCTCCT CCTCCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCC CCCTTCCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCC CTTCCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCTTCCCTCCTCCCT CCCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTCCCCTCCCCTACCCTC CTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCCTCCTCCTCCCC CTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCTCCCCTCTCCCCT CCCCTCCCCTCCCCTCCCCTTCCCCTCTCTTCCTCTCCCCTTCCCCTCCC CTCCCCTCCCCCTCTCCTCCCCCTCCTCTTCCCCTCTCCTCCCCTCCCCC CTCCCCCTTCTCCCCTCTCCCCTCCCCTCCCCTTCCCTTCTCCTCCCCTC CTCCCTCCCCTCCCCATCTTCCCTCCCCTCCCCATCTTCCCTCCCCTCTA CTCCCGTCACCTGTCCCTCCCCTCTCCTCCCCTCACCTGTCCCTCCCCTC TCCCCTTCCCCCTCA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	322	0.0031	714	c.4-1 others(727): Show c.4-1376_4-1375insCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTC CTCTCCTCCTCCCTCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCC TCCCCCTTCTTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTT CCTCCTCTCCTCCTCCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCC CCCTCCCCTCCCCCTTCCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTC CTCCCCTTCCCCTTCCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCTT CCCTCCTCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTCCCCT CCCCTACCCTCCTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCC TCCTCCTCCCCCTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCTC CCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTTCCCCTCTCTTCCTCTCCC CTTCCCCTCCCCTCCCCTCCCCCTCTCCTCCCCCTCCTCTTCCCCTCTCC TCCCCTCCCCCCTCCCCCTTCTCCCCTCTCCCCTCCCCTCCCCTTCCCTT CTCCTCCCCTCCTCCCTCCCCTCCCCATCTTCCCTCCCCTCCCCATCTTC CCTCCCCTCTACTCCCGTCACCTGTCCCTCCCCTCTCCTCCCCTCACCTG TCCCTCCCCTCTCCCCTTCCCCCTCACCTCCC	ZNF627	ENSG00000198551.10	transcript	ENST00000361113.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF627_chr19_11592483_11624161	11613145	C C	CCCTCCCC others(707): Show CCCTCCCCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTCCTCTCCTCCTC CCTCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCTT CCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCTCCTCTCCT CCTCCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCC CCCTTCCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCC CTTCCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCTTCCCTCCTCCCT CCCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTCCCCTCCCCTACCCTC CTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCCTCCTCCTCCCC CTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCTCCCCTCTCCCTC CCCTCCCCCTCCCCTCCCCTTCCCCTCTCTTCCTCTCCCCTTCCCCTCCC CTCCCCTCCCCCTCTCCTCCCCCTCCTCTTCCCCTCTCCTCCCCTCCCCC CTCCCCCTTCTCCCCTCTCCCCTCCCCTCCCCTTCCCTTCTCCTCCCCTC CTCCCTCCCCTCCCCATCTTCCCTCCCCTCCCCATCTTCCCTCCCCTCTA CTCCCGTCACCTGTCCCTCCCCTCTCCTCCCCTCACCTGTCCCTCCCCTC TCCCCTTCCCCCTCA	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	322	0.0031	714	c.4-1 others(727): Show c.4-1376_4-1375insCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTC CTCTCCTCCTCCCTCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCC TCCCCCTTCTTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTT CCTCCTCTCCTCCTCCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCC CCCTCCCCTCCCCCTTCCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTC CTCCCCTTCCCCTTCCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCTT CCCTCCTCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTCCCCT CCCCTACCCTCCTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCC TCCTCCTCCCCCTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCTC CCCTCTCCCTCCCCTCCCCCTCCCCTCCCCTTCCCCTCTCTTCCTCTCCC CTTCCCCTCCCCTCCCCTCCCCCTCTCCTCCCCCTCCTCTTCCCCTCTCC TCCCCTCCCCCCTCCCCCTTCTCCCCTCTCCCCTCCCCTCCCCTTCCCTT CTCCTCCCCTCCTCCCTCCCCTCCCCATCTTCCCTCCCCTCCCCATCTTC CCTCCCCTCTACTCCCGTCACCTGTCCCTCCCCTCTCCTCCCCTCACCTG TCCCTCCCCTCTCCCCTTCCCCCTCACCTCCC	ZNF627	ENSG00000198551.10	transcript	ENST00000361113.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF627_chr19_11592483_11624161	11613145	C C	CCCTCCCC others(707): Show CCCTCCCCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTCCTCTCCTCCTC CCTCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCTT CCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCTCCTCTCCT CCTCCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCC CCCTTCCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCC CTTCCCCTTCCTCCTCTCCTCCTCCCTCCCTCCCCCTTCCCTCCTCCCTC CCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTCCCCTCCCCTACCCTCC TCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCCTCCTCCTCCCCC TCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCTCCCCTCTCCCCTC CCCTCCCCCTCCCCTCCCCTTCCCCTCTCTTCCTCTCCCCTTCCCCTCCC CTCCCCTCCCCCTCTCCTCCCCCTCCTCTTCCCCTCTCCTCCCCTCCCCC CTCCCCCTTCTCCCCTCTCCCCTCCCCTCCCCTTCCCTTCTCCTCCCCTC CTCCCTCCCCTCCCCATCTTCCCTCCCCTCCCCATCTTCCCTCCCCTCTA CTCCCGTCACCTGTCCCTCCCCTCTCCTCCCCTCACCTGTCCCTCCCCTC TCCCCTTCCCCCTCA	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0289 a0001c0001t0001g0289	1	322	0.0031	714	c.4-1 others(727): Show c.4-1376_4-1375insCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTC CTCTCCTCCTCCCTCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCC TCCCCCTTCTTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTT CCTCCTCTCCTCCTCCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCC CCCTCCCCTCCCCCTTCCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTC CTCCCCTTCCCCTTCCCCTTCCTCCTCTCCTCCTCCCTCCCTCCCCCTTC CCTCCTCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTCCCCTC CCCTACCCTCCTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCCT CCTCCTCCCCCTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCTCC CCTCTCCCCTCCCCTCCCCCTCCCCTCCCCTTCCCCTCTCTTCCTCTCCC CTTCCCCTCCCCTCCCCTCCCCCTCTCCTCCCCCTCCTCTTCCCCTCTCC TCCCCTCCCCCCTCCCCCTTCTCCCCTCTCCCCTCCCCTCCCCTTCCCTT CTCCTCCCCTCCTCCCTCCCCTCCCCATCTTCCCTCCCCTCCCCATCTTC CCTCCCCTCTACTCCCGTCACCTGTCCCTCCCCTCTCCTCCCCTCACCTG TCCCTCCCCTCTCCCCTTCCCCCTCACCTCCC	ZNF627	ENSG00000198551.10	transcript	ENST00000361113.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF627_chr19_11592483_11624161	11613145	C C	CCCTCCCC others(707): Show CCCTCCCCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTCCTCTCCTCCTC CCTCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCTT CCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCTCCTCTCCT CCTCCCTCCCCCTCCCCTCCCCCTTCCTCCTCCCTCCCCCCTCCCCTCCC CCTTCCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCCC TTCCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCTTCCCTCCTCCCTC CCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTCCCCTCCCCTACCCTCC TCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCCTCCTCCTCCCCC TCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCCTCCCCTCTCCCCT CCCCTCCCCCCTCCCTCCCCTTCCCCTCTCTTCCTCTCCCCTTCCCCTCC CCTCCCCTCCCCCTCTCCTCCCCCTCCTCTTCCCCTCTCCTCCCCTCCCC CCTCCCCCTTCTCCCCTCTCCCCTCCCCTCCCCTTCCCTTCTCCTCCCCT CCTCCCTCCCTCCCCATCTTCCCTCCCCTCCCCATCTTCCCTCCCCTCTA CTCCCGTCACCTGTCCCTCCCCTCTCCTCCCCTCACCTGTCCCTCCCCTC TCCCCTTCCCCCTCA	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0286 a0001c0001t0001g0286	1	322	0.0031	714	c.4-1 others(727): Show c.4-1376_4-1375insCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTC CTCTCCTCCTCCCTCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCC TCCCCCTTCTTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTT CCTCCTCTCCTCCTCCCTCCCCCTCCCCTCCCCCTTCCTCCTCCCTCCCC CCTCCCCTCCCCCTTCCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCC TCCCCTTCCCCTTCCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCTTC CCTCCTCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTCCCCTC CCCTACCCTCCTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCCT CCTCCTCCCCCTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCCTC CCCTCTCCCCTCCCCTCCCCCCTCCCTCCCCTTCCCCTCTCTTCCTCTCC CCTTCCCCTCCCCTCCCCTCCCCCTCTCCTCCCCCTCCTCTTCCCCTCTC CTCCCCTCCCCCCTCCCCCTTCTCCCCTCTCCCCTCCCCTCCCCTTCCCT TCTCCTCCCCTCCTCCCTCCCTCCCCATCTTCCCTCCCCTCCCCATCTTC CCTCCCCTCTACTCCCGTCACCTGTCCCTCCCCTCTCCTCCCCTCACCTG TCCCTCCCCTCTCCCCTTCCCCCTCACCTCCC	ZNF627	ENSG00000198551.10	transcript	ENST00000361113.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ABR_chr17_998519_1184981	1173225	A A	ACATCACC others(708): Show ACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATCA CCTCAGCCCACCCAACACATCACCTCAGTCCACCCCCCACACATCACCTC AGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACGTCACCTCAG TCCACCCCCCCGACATCACCTCAGCCCACCCCCCCACACATCACCTCAGC CCACCCAACACATCACCTCAGCCCACCCAACACATCACCTCAGTCCACTC AACACATCACCTCAGCCCACCCCCCCCATCACCTCAGCCCACCCCCCCCA TCACCTCAGCCCACCCAACACATCACCTCAGTCCACTCAACACATCACCT CAGCCCACCCCCCCCATCACCTCAGCCCACCCAACACATCACCTCAGCCC ACCCAACACATCACCTCAGTCCACTCAACACATCACCTCAGCCCACCCCC CCCATCACCTCAGCCCACCCCCCCCATCACCTCAGCCCACCCAACACATC ACCTCAGTCCACTCAACACATCACCTCAGCCCACCCCCCCCATCACCTCA GCCCACCCAACACATCACCTCAGCCCACCCAACACATCACCTCAGTCCAC TCAACACATCACCTCAGCCCACCCCCCCCATCACCTCAGCCCACCCCCCC CATCACCTCAGCCCACCCAACACATCACCTCAGTCCACTCAACACATCAC CTCAGCCCACCCCCCC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	337	0.0030	715	c.61+ others(730): Show c.61+6441_61+6442insGGGGGGGTGGGCTGAGGTGATGTGTTGAGT GGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGGCTG AGGTGATGGGGGGGGTGGGCTGAGGTGATGTGTTGAGTGGACTGAGGTGA TGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGG GGGTGGGCTGAGGTGATGTGTTGAGTGGACTGAGGTGATGTGTTGGGTGG GCTGAGGTGATGGGGGGGGTGGGCTGAGGTGATGGGGGGGGTGGGCTGAG GTGATGTGTTGAGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATG TGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGGCTGAGGTGATGTGTTGA GTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGGC TGAGGTGATGGGGGGGGTGGGCTGAGGTGATGTGTTGAGTGGACTGAGGT GATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTG TGGGGGGGTGGGCTGAGGTGATGTCGGGGGGGTGGACTGAGGTGACGTGT GGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTGG GGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTG GGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ADAMTS3_chr4_72275969_72574221	72456228	G G	GTACATTG others(708): Show GTACATTGTATATACTATATATATATTTTATGTATAGTATGTACTATATA TATTTTATGTATAGTATGTACATTGTATATACTATATATATATTTTATGT ATAGTATGTACTATATATATTTTATGTATAGTATATATACTGCATGTACT ATATATATTTTATGTATAGTATATATACTGCATGTACTATATATATTTTA TGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATAT ATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGTA CTATATATATTTTATGTATAGTATATATACTGTATGTACTATATATATTT TATGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTAT ATATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATG TACTATATATATTTTATGTATAGTATATATACTGTATGTACTATATATAT TTTATGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGT ATATATACTGTATATACTATATATATTTTATGTATAGTATATATACTGTA TATACTATATATATTTTATGTATAGTATATATACTGTATATACTATATAT ATTTTATGTATAGTATATATACTGTATATACTATATATATTTTATGTATA GTATATATACTGTATA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0006 a0003c0005t0006	a0003c0005t0006g0076 a0003c0005t0006g0076	1	182	0.0055	715	c.505 others(734): Show c.505-41258_505-41257insTATACAGTATATATACTATACATAAA ATATATATAGTATATACAGTATATATACTATACATAAAATATATATAGTA TATACAGTATATATACTATACATAAAATATATATAGTATATACAGTATAT ATACTATACATAAAATATATATAGTATATACAGTATATATACTATACATA AAATATATATAGTACATACAGTATATATACTATACATAAAATATATATAG TACATACAGTATATATACTATACATAAAATATATATAGTACATACAGTAT ATATACTATACATAAAATATATATAGTACATACAGTATATATACTATACA TAAAATATATATAGTACATACAGTATATATACTATACATAAAATATATAT AGTACATACAGTATATATACTATACATAAAATATATATAGTACATACAGT ATATATACTATACATAAAATATATATAGTACATACAGTATATATACTATA CATAAAATATATATAGTACATACAGTATATATACTATACATAAAATATAT ATAGTACATGCAGTATATATACTATACATAAAATATATATAGTACATGCA GTATATATACTATACATAAAATATATATAGTACATACTATACATAAAATA TATATATAGTATATACAATGTACATACTATACATAAAATATATATAGTAC ATACTATACATAAAATATATATATAGTATATACAATGTA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72456228	G G	GTACATTG others(708): Show GTACATTGTATATACTATATATATATTTTATGTATAGTATGTACTATATA TATTTTATGTATAGTATGTACATTGTATATACTATATATATATTTTATGT ATAGTATGTACTATATATATTTTATGTATAGTATATATACTGCATGTACT ATATATATTTTATGTATAGTATATATACTGCATGTACTATATATATTTTA TGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATAT ATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGTA CTATATATATTTTATGTATAGTATATATACTGTATGTACTATATATATTT TATGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTAT ATATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATG TACTATATATATTTTATGTATAGTATATATACTGTATGTACTATATATAT TTTATGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGT ATATATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTA TATACTATATATATTTTATGTATAGTATATATACTGTATATACTATATAT ATTTTATGTATAGTATATATACTGTATATACTATATATATTTTATGTATA GTATATATACTGTATA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0096 a0002c0002t0001g0096	1	182	0.0055	715	c.505 others(734): Show c.505-41258_505-41257insTATACAGTATATATACTATACATAAA ATATATATAGTATATACAGTATATATACTATACATAAAATATATATAGTA TATACAGTATATATACTATACATAAAATATATATAGTATATACAGTATAT ATACTATACATAAAATATATATAGTACATACAGTATATATACTATACATA AAATATATATAGTACATACAGTATATATACTATACATAAAATATATATAG TACATACAGTATATATACTATACATAAAATATATATAGTACATACAGTAT ATATACTATACATAAAATATATATAGTACATACAGTATATATACTATACA TAAAATATATATAGTACATACAGTATATATACTATACATAAAATATATAT AGTACATACAGTATATATACTATACATAAAATATATATAGTACATACAGT ATATATACTATACATAAAATATATATAGTACATACAGTATATATACTATA CATAAAATATATATAGTACATACAGTATATATACTATACATAAAATATAT ATAGTACATGCAGTATATATACTATACATAAAATATATATAGTACATGCA GTATATATACTATACATAAAATATATATAGTACATACTATACATAAAATA TATATATAGTATATACAATGTACATACTATACATAAAATATATATAGTAC ATACTATACATAAAATATATATATAGTATATACAATGTA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72456228	G G	GTACATTG others(708): Show GTACATTGTATATACTATATATATATTTTATGTATAGTATGTACTATATA TATTTTATGTATAGTATGTACATTGTATATACTATATATATATTTTATGT ATAGTATGTACTATATATATTTTATGTATAGTATATATACTGCATGTACT ATATATATTTTATGTATAGTATATATACTGCATGTACTATATATATTTTA TGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATAT ATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGTA CTATATATATTTTATGTATAGTATATATACTGTATGTACTATATATATTT TATGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTAT ATATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATG TACTATATATATTTTATGTATAGTATATATACTGTATGTACTATATATAT TTTATGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGT ATATATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTA TGTACTATATATATTTTATGTATAGTATATATACTGTATATACTATATAT ATTTTATGTATAGTATATATACTGTATATACTATATATATTTTATGTATA GTATATATACTGTATA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02615.hp1 HG01167.hp1 HG02615.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0001 a0003c0007t0006 a0001c0001t0001 a0003c0007t0006	a0001c0001t0001g0171 a0003c0007t0006g0165 a0001c0001t0001g0171 a0003c0007t0006g0165	2	182	0.0110	715	c.505 others(734): Show c.505-41258_505-41257insTATACAGTATATATACTATACATAAA ATATATATAGTATATACAGTATATATACTATACATAAAATATATATAGTA TATACAGTATATATACTATACATAAAATATATATAGTACATACAGTATAT ATACTATACATAAAATATATATAGTACATACAGTATATATACTATACATA AAATATATATAGTACATACAGTATATATACTATACATAAAATATATATAG TACATACAGTATATATACTATACATAAAATATATATAGTACATACAGTAT ATATACTATACATAAAATATATATAGTACATACAGTATATATACTATACA TAAAATATATATAGTACATACAGTATATATACTATACATAAAATATATAT AGTACATACAGTATATATACTATACATAAAATATATATAGTACATACAGT ATATATACTATACATAAAATATATATAGTACATACAGTATATATACTATA CATAAAATATATATAGTACATACAGTATATATACTATACATAAAATATAT ATAGTACATGCAGTATATATACTATACATAAAATATATATAGTACATGCA GTATATATACTATACATAAAATATATATAGTACATACTATACATAAAATA TATATATAGTATATACAATGTACATACTATACATAAAATATATATAGTAC ATACTATACATAAAATATATATATAGTATATACAATGTA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72456228	G G	GTACATTG others(708): Show GTACATTGTATATACTATATATATATTTTATGTATAGTATGTACTATATA TATTTTATGTATAGTATGTACATTGTATATACTATATATATATTTTATGT ATAGTATGTACTATATATATTTTATGTATAGTATATATACTGCATGTACT ATATATATTTTATGTATAGTATATATACTGCATGTACTATATATATTTTA TGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATAT ATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGTA CTATATATATTTTATGTATAGTATATATACTGTATGTACTATATATATTT TATGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTAT ATATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATG TACTATATATATTTTATGTATAGTATATATACTGTATGTACTATATATAT TTTATGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGT ATATATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTA TGTACTATATATATTTTATGTATAGTATATATACTGTATGTACTATATAT ATTTTATGTATAGTATATATACTGTATATACTATATATATTTTATGTATA GTATATATACTGTATA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	182	0.0055	715	c.505 others(734): Show c.505-41258_505-41257insTATACAGTATATATACTATACATAAA ATATATATAGTATATACAGTATATATACTATACATAAAATATATATAGTA CATACAGTATATATACTATACATAAAATATATATAGTACATACAGTATAT ATACTATACATAAAATATATATAGTACATACAGTATATATACTATACATA AAATATATATAGTACATACAGTATATATACTATACATAAAATATATATAG TACATACAGTATATATACTATACATAAAATATATATAGTACATACAGTAT ATATACTATACATAAAATATATATAGTACATACAGTATATATACTATACA TAAAATATATATAGTACATACAGTATATATACTATACATAAAATATATAT AGTACATACAGTATATATACTATACATAAAATATATATAGTACATACAGT ATATATACTATACATAAAATATATATAGTACATACAGTATATATACTATA CATAAAATATATATAGTACATACAGTATATATACTATACATAAAATATAT ATAGTACATGCAGTATATATACTATACATAAAATATATATAGTACATGCA GTATATATACTATACATAAAATATATATAGTACATACTATACATAAAATA TATATATAGTATATACAATGTACATACTATACATAAAATATATATAGTAC ATACTATACATAAAATATATATATAGTATATACAATGTA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72456228	G G	GTACATTG others(708): Show GTACATTGTATATACTATATATATATTTTATGTATAGTATGTACTATATA TATTTTATGTATAGTATGTACATTGTATATACTATATATATATTTTATGT ATAGTATGTACTATATATATTTTATGTATAGTATATATACTGCATGTACT ATATATATTTTATGTATAGTATATATACTGTATGTACTATATATATTTTA TGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATAT ATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGTA CTATATATATTTTATGTATAGTATATATACTGTATGTACTATATATATTT TATGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTAT ATATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATG TACTATATATATTTTATGTATAGTATATATACTGTATGTACTATATATAT TTTATGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGT ATATATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTA TATACTATATATATTTTATGTATAGTATATATACTGTATATACTATATAT ATTTTATGTATAGTATATATACTGTATATACTATATATATTTTATGTATA GTATATATACTGTATA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG02257.hp2 HG02451.hp2 others(1): Show HG01258.hp1 HG02257.hp2 HG02451.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0163 a0001c0001t0001g0169 a0001c0001t0001g0170 others(1): Show a0001c0001t0001g0163 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0011g0002	4	182	0.0220	715	c.505 others(734): Show c.505-41258_505-41257insTATACAGTATATATACTATACATAAA ATATATATAGTATATACAGTATATATACTATACATAAAATATATATAGTA TATACAGTATATATACTATACATAAAATATATATAGTATATACAGTATAT ATACTATACATAAAATATATATAGTACATACAGTATATATACTATACATA AAATATATATAGTACATACAGTATATATACTATACATAAAATATATATAG TACATACAGTATATATACTATACATAAAATATATATAGTACATACAGTAT ATATACTATACATAAAATATATATAGTACATACAGTATATATACTATACA TAAAATATATATAGTACATACAGTATATATACTATACATAAAATATATAT AGTACATACAGTATATATACTATACATAAAATATATATAGTACATACAGT ATATATACTATACATAAAATATATATAGTACATACAGTATATATACTATA CATAAAATATATATAGTACATACAGTATATATACTATACATAAAATATAT ATAGTACATACAGTATATATACTATACATAAAATATATATAGTACATGCA GTATATATACTATACATAAAATATATATAGTACATACTATACATAAAATA TATATATAGTATATACAATGTACATACTATACATAAAATATATATAGTAC ATACTATACATAAAATATATATATAGTATATACAATGTA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72456228	G G	GTACATTG others(708): Show GTACATTGTATATACTATATATATATTTTATGTATAGTATGTACTATATA TATTTTATGTATAGTATGTACATTGTATATACTATATATATATTTTATGT ATAGTATGTACTATATATATTTTATGTATAGTATATATACTGCATGTACT ATATATATTTTATGTATAGTATATATACTGTATGTACTATATATATTTTA TGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATAT ATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGTA CTATATATATTTTATGTATAGTATATATACTGTATGTACTATATATATTT TATGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTAT ATATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATG TACTATATATATTTTATGTATAGTATATATACTGTATGTACTATATATAT TTTATGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGT ATATATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTA TGTACTATATATATTTTATGTATAGTATATATACTGTATGTACTATATAT ATTTTATGTATAGTATATATACTGTATATACTATATATATTTTATGTATA GTATATATACTGTATA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0082 a0001c0001t0007g0082	1	182	0.0055	715	c.505 others(734): Show c.505-41258_505-41257insTATACAGTATATATACTATACATAAA ATATATATAGTATATACAGTATATATACTATACATAAAATATATATAGTA CATACAGTATATATACTATACATAAAATATATATAGTACATACAGTATAT ATACTATACATAAAATATATATAGTACATACAGTATATATACTATACATA AAATATATATAGTACATACAGTATATATACTATACATAAAATATATATAG TACATACAGTATATATACTATACATAAAATATATATAGTACATACAGTAT ATATACTATACATAAAATATATATAGTACATACAGTATATATACTATACA TAAAATATATATAGTACATACAGTATATATACTATACATAAAATATATAT AGTACATACAGTATATATACTATACATAAAATATATATAGTACATACAGT ATATATACTATACATAAAATATATATAGTACATACAGTATATATACTATA CATAAAATATATATAGTACATACAGTATATATACTATACATAAAATATAT ATAGTACATACAGTATATATACTATACATAAAATATATATAGTACATGCA GTATATATACTATACATAAAATATATATAGTACATACTATACATAAAATA TATATATAGTATATACAATGTACATACTATACATAAAATATATATAGTAC ATACTATACATAAAATATATATATAGTATATACAATGTA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ARL13A_chrX_100964708_100995831	100972833	G G	GGGCGGGG others(708): Show GGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCC GGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCAGCTGGCCGGGCAGGGGGGCTGACACCCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGG CGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGT GGCTGGCCAGGCGGGGGGCTAACCCCCCCACCTCCCTCCCAGACGGGGCG GCTGGCCGGGTGGGAGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTG GCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGCGCGGCTGGCCAGGCGGGGGGCTGACC CCTCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCC CCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCC CCCCCACCTCCCTCCC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0206 a0001c0001t0002g0206	1	280	0.0036	715	c.-14 others(730): Show c.-14-841_-14-840insCGGGGGGGCTGACCCCCCCACCTCCCTCCC AGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCAGCTGGCCGGGCAG GGGGGCTGACACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCC TCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGTGGCTGGCCAGGCGGGGGGCTAACCCCCCCACCT CCCTCCCAGACGGGGCGGCTGGCCGGGTGGGAGGGCTGACCCCCCCATCT CCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGG CCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCGCGGCTGGC CAGGCGGGGGGCTGACCCCTCCACCTCCCTCCCGGACGGGGCGGCTGGCC AGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGG	ARL13A	ENSG00000174225.15	transcript	ENST00000450049.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
B3GNTL1_chr17_82937149_83056770	83026624	G G	GAGGAAAG others(708): Show GAGGAAAGGGAGCCTGCAGACAAACCCACCATCGACCGATACACAGAGGA GGGCAGGGAGCCTGCATACAAACCCACCCTCGACAGACACACAGAGCGGG GCAGGAGCCTGCAGACAAACCCACCCTCGACAGACACACAGAGCGGGGCA GGAGCCTGCAGACAAACCCACCCTCGACAGACACACAGAGCGGGACGGGA GCCTGCAGACAAACCCACCCTCGACAGACACACAGAGCGGGGCGGGAGCC TGCAGACAAACCCACCCTTGACAGACACACAGAGCGGGACGGGAGCCTGC AGACAAACCCACCCTCGACAGACACACAGAGCAGGGCAGGGAGCCTGCAG ACAAACCCACACTCGACAGACACACAGAGGAGGGCAGGGAGCCTGCAGAC AAACCCACCCTCGACAGACACGCAGAGCAGGGCAGGAAGCCTGCAGACAA ACCCACCCTCGACAGACACACAGAGGAGGGCAGGAAGCCTGCAGACAAAC CCACCCTCGACAGACACACAGAGCAGGGCGGGGAGCCTGCAGACAAACCC ACCCTCGACAGACACGCAGAGGAGGGCAGGAAGCCTGCAGACAAACCCAC CCTCGACAGACACGCAGAGCAGGGCAGGAAGCCTGCAGACAAACCCACCC TCGACAGACACACAGAGGAGGGCAGGAAGCCTGCAGACAAACCCACCCTC GACAGACACACAGAGC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02922.hp2 HG02818.hp1 HG02922.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0004c0019 a0001c0003 a0004c0019	a0001c0003t0014 a0004c0019t0004 a0001c0003t0014 a0004c0019t0004	a0001c0003t0014g0194 a0004c0019t0004g0193 a0001c0003t0014g0194 a0004c0019t0004g0193	2	266	0.0075	715	c.297 others(732): Show c.297+8410_297+8411insGCTCTGTGTGTCTGTCGAGGGTGGGTTT GTCTGCAGGCTTCCTGCCCTCCTCTGTGTGTCTGTCGAGGGTGGGTTTGT CTGCAGGCTTCCTGCCCTGCTCTGCGTGTCTGTCGAGGGTGGGTTTGTCT GCAGGCTTCCTGCCCTCCTCTGCGTGTCTGTCGAGGGTGGGTTTGTCTGC AGGCTCCCCGCCCTGCTCTGTGTGTCTGTCGAGGGTGGGTTTGTCTGCAG GCTTCCTGCCCTCCTCTGTGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGC TTCCTGCCCTGCTCTGCGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCTC CCTGCCCTCCTCTGTGTGTCTGTCGAGTGTGGGTTTGTCTGCAGGCTCCC TGCCCTGCTCTGTGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCTCCCGT CCCGCTCTGTGTGTCTGTCAAGGGTGGGTTTGTCTGCAGGCTCCCGCCCC GCTCTGTGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCTCCCGTCCCGCT CTGTGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCTCCTGCCCCGCTCTG TGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCTCCTGCCCCGCTCTGTGT GTCTGTCGAGGGTGGGTTTGTATGCAGGCTCCCTGCCCTCCTCTGTGTAT CGGTCGATGGTGGGTTTGTCTGCAGGCTCCCTTTCCT	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
C2CD4C_chr19_400445_414147	410934	C C	CCTGCTGG others(708): Show CCTGCTGGGCTCGGATCCTGGGGGTCTGTCCACCGTCACTGCTGGGCCCG GATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTC TGTCCACCGCCCCTGCTGGGCCCGAGCCGGGAGGAGGGTCCTGGGGGTCT GTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACTGCCCCT GCTGGGCTCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGAT CCTGGGGGTCTGTCCACCGTCACTGCTGGGCCCGGATCCTGGGGGTCTGT CCACCGTCTCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGC TGGGCACGGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCCGGATCC TGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCC ACCGTCTCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTG GGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCTG GGGGTCTGTCCACCGTCACTGCTGGGCCCGGATCCTGGGGGTCTGTCCAC CGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGG CCCGGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCCGGATCCTGGG GGTCTGTCCACCGTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0042 a0001c0001t0030g0042	1	322	0.0031	715	c.-19 others(726): Show c.-1970_-1969insTGACGGTGGACAGACCCCCAGGATCCGGGCCCAG CAGAGACGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGA CAGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGA TCCGGGCCCAGCAGTGACGGTGGACAGACCCCCAGGATCCGTGCCCAGCA GGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACA GACCCCCAGGATCCGTGCCCAGCAGAGACGGTGGACAGACCCCCAGGATC CGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGA GACGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAGA CCCCCAGGATCCGGGCCCAGCAGAGACGGTGGACAGACCCCCAGGATCCG GGCCCAGCAGTGACGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGG CGGTGGACAGACCCCCAGGATCCGAGCCCAGCAGGGGCAGTGGACAGACC CCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGACCCTCC TCCCGGCTCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGTGC CCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGTGACGG TGGACAGACCCCCAGGATCCGAGCCCAGCAG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1788		chr19	TogoVar
CEP72_chr5_607340_658553	650982	C C	CTGTGAGG others(708): Show CTGTGAGGGGTGACTGTGAGGCGTGGACTGTGAGGCGTGGACTGTGAGGC GTGGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGT GAGGTGTGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGCGTGGA CTGTGAGGCGTGGACTGTGAGGGGTGACTGTGAGGCGTGGACTGTGAGGC GTGGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTG AGGTGTGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGCGTGGAC TGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTG TGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAG GCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTG TGAGGCATGGACTGTGAGGTGTGACTGAGGTGTGACTGAGGTGTGACTGT GAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGA CTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGT GTGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGA GGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACT GAGGTGTGACTGTGGG	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	91	0.0110	715	c.177 others(734): Show c.1779-1999_1779-1998insGGTGACTGTGAGGCGTGGACTGTGAG GCGTGGACTGTGAGGCGTGGACTGTGAGGCGTGGACTGTGAGGTGTGACT GTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGCGTG GACTGTGAGGCGTGGACTGTGAGGCGTGGACTGTGAGGGGTGACTGTGAG GCGTGGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGTGTGACTG TGAGGCGTGGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGCGTGG ACTGTGAGGCGTGGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGG CGTGGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGCGTGGACTGT GAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGA CTGTGAGGTGTGACTGTGAGGCATGGACTGTGAGGTGTGACTGAGGTGTG ACTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGT GGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAG GCGTGGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGCGTGGACTG TGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGG ACTGTGAGGTGTGACTGAGGTGTGACTGTGGGTGTGAGG	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(708): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTT CCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCC CCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTC CTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTC CCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCT TCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTC TCTTCCTCCTTCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCC CCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTT CCCCCTTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTT CTTCCTCCCTCCCTCCTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCC CCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCC CCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTT ACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCC CTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02896.hp1 HG02818.hp1 HG02896.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0013 a0001c0006t0001g0013	2	354	0.0057	715	c.69 others(726): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCT CCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTC CCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTC CTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTC CCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCT TCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCC CTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCCCTTCCCCCTTCC CCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTT CCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCCCCTTCCTTCT TCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCTTCCTCCCTCCCTCCTC CCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCT CCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTT CCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCT CTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CHTF18_chr16_783620_803074	795593	T T	TGCTGCCC others(708): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCCAACCACACT GCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCCTCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCG GCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGCCCCGT GCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTT CTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCC CAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCAACCA CACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCGCCCCTC CCCTCCCCCCCCCCGC	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	428	0.0023	715	c.217 others(730): Show c.2176-73_2176-72insCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCCAACCACACT GCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCCTCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCG GCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGCCCCGT GCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTT CTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCC CAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCAACCA CACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCGCCCCTC CCCTCCCCCCCCCCGCGCTGCCCGTGTGGCTGCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHTF18_chr16_783620_803074	795593	T T	TGCTGCCC others(708): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCCAACCACACT GCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGT GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCCCCCCAACCACACTGCCCGTGTGGCTGCCCCTGGCCCCGTGCCCCCCC CAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCAACCA CACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCGCCCCTC CCCTCCCCCCCCCCGC	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0139 a0001c0016t0001g0139	1	428	0.0023	715	c.217 others(730): Show c.2176-73_2176-72insCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCCAACCACACT GCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGT GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCCCCCCAACCACACTGCCCGTGTGGCTGCCCCTGGCCCCGTGCCCCCCC CAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCAACCA CACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCGCCCCTC CCCTCCCCCCCCCCGCGCTGCCCGTGTGGCTGCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
COL27A1_chr9_114150537_114317511	114278403	T T	TGGTGATA others(708): Show TGGTGATAGTGGGGGTGGGAGTGGAGTGGAGGTGAGGGTGGTGGTGGTGG TGATGGTGGTGGTGGTGATGGTGATGGTGGTGGTGATGATGATGGTGGTG GTGATGGTGGTGGTGGTTGGTGGTGGTGATGATGGCGGGGGTGATGGTGG TGATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTG GTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGT GGTGGTGGTGATGTTGATGGCGGGGGTGGTGGTGGTGGTGATGATGGTGG GGGTGGGGGTGGTGGTGATAGTGATAGTGGTAATGATAATGATGATGATG GGGCAGTGATGATGGTGGTGGTGATGGTGGTGGTGATAATGGTGGTGGTG GTACTAATGATAGTGGTAGTGGTGGTGATGATGGGTGGTAGTGATGGTAG TAGTGATGGCAGGGGAGTGATGATGGTGGTCATGGCAGTGGTGGGGGTGG GAGTGGAGTGGAGGTGAGGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGA TGGTGGTGGTGATGATGATGGTGGTGGTGATGGTGGTGATGATGATGGCG GGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGATGAT GGCGGGGGTGGTGGTGGTGATGTTGATGGCGGGGGTGGTGGTGGTGGTGA TGATGGTGGGGGTGGG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0010 a0010	a0010c0025 a0010c0025	a0010c0025t0003 a0010c0025t0003	a0010c0025t0003g0183 a0010c0025t0003g0183	1	308	0.0033	715	c.371 others(734): Show c.3717+2639_3717+2640insATAGTGGGGGTGGGAGTGGAGTGGAG GTGAGGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGATGGTGGT GGTGATGATGATGGTGGTGGTGATGGTGGTGGTGGTTGGTGGTGGTGATG ATGGCGGGGGTGATGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGAT GATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTGG TGATGATGATGGCGGGGGTGGTGGTGGTGATGTTGATGGCGGGGGTGGTG GTGGTGGTGATGATGGTGGGGGTGGGGGTGGTGGTGATAGTGATAGTGGT AATGATAATGATGATGATGGGGCAGTGATGATGGTGGTGGTGATGGTGGT GGTGATAATGGTGGTGGTGGTACTAATGATAGTGGTAGTGGTGGTGATGA TGGGTGGTAGTGATGGTAGTAGTGATGGCAGGGGAGTGATGATGGTGGTC ATGGCAGTGGTGGGGGTGGGAGTGGAGTGGAGGTGAGGGTGGTGGTGGTG ATGGTGGTGGTGGTGGTGATGGTGGTGGTGATGATGATGGTGGTGGTGAT GGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGG TGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGTTGATGGCG GGGGTGGTGGTGGTGGTGATGATGGTGGGGGTGGGGGTG	COL27A1	ENSG00000196739.15	transcript	ENST00000356083.8	protein_coding	37/60		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL4A2_chr13_110302284_110518209	110481937	C C	CTCTGTCC others(708): Show CTCTGTCCCTCCGTGCTGGAGACACACTGCTCTGTCCCTCCGTTGCTGGA GACACACTGCTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCTTC CATTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGT TCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAG ACACACAGTTCTGTCCTTCCGTTGCTGGAGACACACTGCTCTGTCCTTCC ATTGCTGGAGACACACTGTTCTGTCCCTCCGTGCTGGAGACACACAGTTC TGTCCTTCCGTTGCTGGAGACACACTGCTCTGTCCTTCCATTGCTGGAGA CACACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCG TTGCTGGAGACACACTGTTCTGTCCTTCCATTGCTGGAGACACACTGTTC TGTCCCTCCGTTGCTGGAGACACACAGTTCTGTCCTTCCGTTGCTGGAGA CACACTGCTCTGTCCTTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCG TGCTGGAGACACACTGCTCTGTCCCTCCGTTGCTGGAGACACACTGCTCT GTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCGTGCTGGAGACA CACTGTTCTGTCCTTCCGTTGCTGGAGACACACAGTTCTGTCCCTCCGTT GCTGGAGACACACTGT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0041 a0002c0041	a0002c0041t0002 a0002c0041t0002	a0002c0041t0002g0369 a0002c0041t0002g0369	1	372	0.0027	715	c.275 others(732): Show c.2759-551_2759-550insCTCTGTCCCTCCGTTGCTGGAGACACAC TGCTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCTTCCATTGCT GGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGTTCTGTCC CTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAGACACACA GTTCTGTCCTTCCGTTGCTGGAGACACACTGCTCTGTCCTTCCATTGCTG GAGACACACTGTTCTGTCCCTCCGTGCTGGAGACACACAGTTCTGTCCTT CCGTTGCTGGAGACACACTGCTCTGTCCTTCCATTGCTGGAGACACACTG TTCTGTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGG AGACACACTGTTCTGTCCTTCCATTGCTGGAGACACACTGTTCTGTCCCT CCGTTGCTGGAGACACACAGTTCTGTCCTTCCGTTGCTGGAGACACACTG CTCTGTCCTTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGA GACACACTGCTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTC CGTTGCTGGAGACACACTGTTCTGTCCCTCCGTGCTGGAGACACACTGTT CTGTCCTTCCGTTGCTGGAGACACACAGTTCTGTCCCTCCGTTGCTGGAG ACACACTGTTCTGTCCCTCCGTGCTGGAGACACACTG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110481937	C C	CTCTGTCC others(708): Show CTCTGTCCCTCCGTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGA GACACACTGCTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCTTC CATTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGT TCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAG ACACACAGTTCTGTCCTTCCGTTGCTGGAGACACACTGCTCTGTCCTTCC ATTGCTGGAGACACACTGTTCTGTCCCTCCGTGCTGGAGACACACAGTTC TGTCCTTCCGTTGCTGGAGACACACTGCTCTGTCCTTCCATTGCTGGAGA CACACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCG TTGCTGGAGACACACTGTTCTGTCCTTCCATTGCTGGAGACACACTGTTC TGTCCCTCCGTTGCTGGAGACACACAGTTCTGTCCTTCCGTTGCTGGAGA CACACTGCTCTGTCCTTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCG TGCTGGAGACACACTGCTCTGTCCCTCCGTTGCTGGAGACACACTGCTCT GTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCGTGCTGGAGACA CACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCTTCCATT GCTGGAGACACACTGT	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0248 a0001c0003t0001g0248	1	372	0.0027	715	c.275 others(732): Show c.2759-543_2759-542insCTCCGTTGCTGGAGACACACTGCTCTGT CCCTCCGTTGCTGGAGACACACTGCTCTGTCCTTCCATTGCTGGAGACAC ACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCGTTG CTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAGACACACAGTTCTGTC CTTCCGTTGCTGGAGACACACTGCTCTGTCCTTCCATTGCTGGAGACACA CTGTTCTGTCCCTCCGTGCTGGAGACACACAGTTCTGTCCTTCCGTTGCT GGAGACACACTGCTCTGTCCTTCCATTGCTGGAGACACACTGTTCTGTCC CTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACAC TGTTCTGTCCTTCCATTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCT GGAGACACACAGTTCTGTCCTTCCGTTGCTGGAGACACACTGCTCTGTCC TTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAGACACACT GCTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTTGCTG GAGACACACTGTTCTGTCCCTCCGTGCTGGAGACACACTGTTCTGTCCCT CCGTTGCTGGAGACACACTGCTCTGTCCTTCCATTGCTGGAGACACACTG TTCTGTCCCTCCGTGCTGGAGACACACTGTTCTGTCC	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110481937	C C	CTCTGTCC others(708): Show CTCTGTCCCTCCGTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGA GACACACTGCTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCTTC CATTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGT TCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAG ACACACAGTTCTGTCCTTCCGTTGCTGGAGACACACTGCTCTGTCCTTCC ATTGCTGGAGACACACTGTTCTGTCCCTCCGTGCTGGAGACACACAGTTC TGTCCTTCCGTTGCTGGAGACACACTGCTCTGTCCTTCCATTGCTGGAGA CACACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCG TTGCTGGAGACACACTGTTCTGTCCTTCCATTGCTGGAGACACACTGTTC TGTCCCTCCGTTGCTGGAGACACACAGTTCTGTCCTTCCGTTGCTGGAGA CACACTGCTCTGTCCTTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCG TGCTGGAGACACACTGCTCTGTCCCTCCGTTGCTGGAGACACACTGCTCT GTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCGTGCTGGAGACA CACTGTTCTGTCCTTCCGTTGCTGGAGACACACAGTTCTGTCCCTCCGTT GCTGGAGACACACTGT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02083.hp2 HG02602.hp2 others(8): Show HG02056.hp1 HG02083.hp2 HG02602.hp2 HG04228.hp2 NA18950.hp2 NA18983.hp1 NA18988.hp1 NA18992.hp2 NA19005.hp1 NA19009.hp1 NA19009.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0024 a0001c0025 a0006c0033	a0001c0001t0001 a0001c0001t0003 a0001c0001t0023 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0023 a0001c0003t0002 a0001c0003t0017 a0001c0004t0005 a0001c0024t0003 a0001c0025t0002 a0006c0033t0012	a0001c0001t0001g0155 a0001c0001t0003g0063 a0001c0001t0023g0329 others(8): Show a0001c0001t0001g0155 a0001c0001t0003g0063 a0001c0001t0023g0329 a0001c0003t0002g0333 a0001c0003t0002g0353 a0001c0003t0017g0178 a0001c0004t0005g0104 a0001c0004t0005g0229 a0001c0024t0003g0087 a0001c0025t0002g0346 a0006c0033t0012g0336	11	372	0.0296	715	c.275 others(732): Show c.2759-543_2759-542insCTCCGTTGCTGGAGACACACTGCTCTGT CCCTCCGTTGCTGGAGACACACTGCTCTGTCCTTCCATTGCTGGAGACAC ACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCGTTG CTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAGACACACAGTTCTGTC CTTCCGTTGCTGGAGACACACTGCTCTGTCCTTCCATTGCTGGAGACACA CTGTTCTGTCCCTCCGTGCTGGAGACACACAGTTCTGTCCTTCCGTTGCT GGAGACACACTGCTCTGTCCTTCCATTGCTGGAGACACACTGTTCTGTCC CTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACAC TGTTCTGTCCTTCCATTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCT GGAGACACACAGTTCTGTCCTTCCGTTGCTGGAGACACACTGCTCTGTCC TTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAGACACACT GCTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTTGCTG GAGACACACTGTTCTGTCCCTCCGTGCTGGAGACACACTGTTCTGTCCTT CCGTTGCTGGAGACACACAGTTCTGTCCCTCCGTTGCTGGAGACACACTG TTCTGTCCCTCCGTGCTGGAGACACACTGTTCTGTCC	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar

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Search Results (Total: 8931 hits)