Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CHMP1A_chr16_89639435_89662708	89648412	C C	CGCGGGGG others(498): Show CGCGGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGG TCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGA GAAAAGGCCGCCGACGTGGGGACCCAGTGCGGGGTCGGTGGAGAAAAGGC CGCCGACGTGGGGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACG TGAGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACC CAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGG GGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTG GAGAAAAGGCGGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGAAAAG GCGGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGA CGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCGGCCGACGTGGAGA CCCAGT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	392	0.0026	505	c.252 others(520): Show c.252+938_252+939insACTGGGTCTCCACGTCGGCCGCCTTTTCTC CACCGACCCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACC CCGCACTGGGTCTCCACGTCGGCCGCCTTTTCTCCACCGACCCCGCACTG GGTCTCCACGTCGGCCGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCA CGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCACGTCGGCG GCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTC TCCACCGACCCCGCGCTGGGTCCTCACGTCGGCGGCCTTTTCTCCACCGA CCCCGCACTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCAC TGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCCC CACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCACGTCGG CGGCCTTTTCTCCACCGACCCCCGC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(498): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTATATATAAAATAAA TATTTATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAAT ATTTATTTAATATATAAAATAAATATTTATTTTAATATTAAAATAAATAT TTATTTTATATATAAAATAAATATTTATTTAATATATAAAATAAATATTT ATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATATTTATTT TAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTT TAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTT TAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTT TAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTT TAATATATTAAAATAAATATTTATTTTATTTATTTTAATATATAAAATAT TTTATT	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	402	0.0025	505	c.80- others(520): Show c.80-4988_80-4987insAATATTTATTTTATATATAAAATAAATATT TATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAATATTT ATTTAATATATAAAATAAATATTTATTTTAATATTAAAATAAATATTTAT TTTATATATAAAATAAATATTTATTTAATATATAAAATAAATATTTATTT TAATATATAAAATAAATATTTATTTTAATATATAAAATATTTATTTTAAT ATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAAT ATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAAT ATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAAT ATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAAT ATATTAAAATAAATATTTATTTTATTTATTTTAATATATAAAATATTTTA TTTATTTATTTTAATATATAAAATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL4A1_chr13_110143963_110312157	110255884	A A	AAGGGGGA others(498): Show AAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAAGGGGGAAGG CAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAG GGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAG GAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGG GAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAG GGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAG GCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGGAAGGCAGGAAGGGA GGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGGAAGGCA GGAAGGGAGGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGG GGAAGGCAGGAAGGGAGGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGA AGGGAG	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0118 a0001c0003t0001g0118	1	344	0.0029	505	c.85- others(522): Show c.85-13151_85-13150insCTCCCTTCCTGCCTTCCCCCTCCCTTCC TGCCTTCCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCC TCCCTTCCTGCCTTCCCCCCTCCCTTCCTGCCTTCCCCCCTCCCTTCCTG CCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCCTC CCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCT TCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTT CCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCC CCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCT GCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTT CCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCC TTTCCCCTCCCTTCCTGCCTTCCCCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A2_chr13_110302284_110518209	110385906	T T	TTACAGTG others(498): Show TTACAGTGTGTGGATAGACCGTGGCTGCAGTGTGTGGATAGGCCGTGGTT ACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGACCGTGGTTAC AGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGCTGCAG TGTGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTG TGTGGATGGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTG TGGATGGACCGTGGCTGCAGTGTGTGGATAGGCCGTGGTTACAGTGTGTG GATAGGCCGTGGTTACAGTGTGTGGATGGACCGTGGTTACAGTGTGTGGA TAGGCCGTGGTTACAGTGTGTGGATTAGGCCGTGGCTACAGTGTGTGGAT GGGCCGTGGTTACAGTGTGTGGATGGGCCGTGGTTACAGTGTGTGGATGG ACCGTGGTTACAGTGTGTGGATGGGCCGTGGCTACAGTGTGTGGATGGAC CGTGGC	intron_variant intron_variant	MODIFIER	HG01978.hp2 NA18946.hp1 NA18964.hp1 others(1): Show HG01978.hp2 NA18946.hp1 NA18964.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008	a0001c0001t0001 a0001c0002t0003 a0001c0003t0017 others(1): Show a0001c0001t0001 a0001c0002t0003 a0001c0003t0017 a0001c0008t0004	a0001c0001t0001g0195 a0001c0002t0003g0136 a0001c0003t0017g0245 others(1): Show a0001c0001t0001g0195 a0001c0002t0003g0136 a0001c0003t0017g0245 a0001c0008t0004g0282	4	372	0.0108	505	c.180 others(524): Show c.180+28359_180+28360insTGTGTGGATAGACCGTGGCTGCAGTG TGTGGATAGGCCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTG TGGATGGACCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTG GATAGGCCGTGGCTGCAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGA TAGGCCGTGGTTACAGTGTGTGGATGGACCGTGGTTACAGTGTGTGGATA GGCCGTGGTTACAGTGTGTGGATGGACCGTGGCTGCAGTGTGTGGATAGG CCGTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATGGACC GTGGTTACAGTGTGTGGATAGGCCGTGGTTACAGTGTGTGGATTAGGCCG TGGCTACAGTGTGTGGATGGGCCGTGGTTACAGTGTGTGGATGGGCCGTG GTTACAGTGTGTGGATGGACCGTGGTTACAGTGTGTGGATGGGCCGTGGC TACAGTGTGTGGATGGACCGTGGCTACAG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL9A3_chr20_62812050_62846159	62825130	A A	AGGGAGGG others(498): Show AGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAG GGAGGGGCTGGGCTCCGGCGGAGGGGAGGGGCTGGGCTCCGGCGGGGGGG AGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGAGGGAG GGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGG GCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGAGGGGAGGGGC TGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTG GGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGG CTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCT CCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCC GGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGGAGGGGCTGGGCTCCG GCGGGG	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0120 a0001c0007t0002g0120	1	412	0.0024	505	c.630 others(520): Show c.630+179_630+180insAGGGGAGGGGCTGGGCTCCGGCGGGGGGGA GGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGG GGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGG CTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGAGGGGAGGGGCT GGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGG GCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGC TCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTC CGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCG GCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGGAGGGGCTGGGCTCCGG CGGGGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCG GGAGGGAGGGGCTGGGCTCCGGCGG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL9A3_chr20_62812050_62846159	62825154	A A	AGGGAGGG others(498): Show AGGGAGGGGCTGGGCTCCGGCGGAGGGGAGGGGCTGGGCTCCGGCGGGGG GGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGAGGG AGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAG GGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGAGGGGAGGG GCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGC TGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTG GGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGGAGGGGCTGG GCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGC TCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTC CGGCGGGGGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCG GCGGTG	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0116 a0001c0005t0001g0116	1	412	0.0024	505	c.630 others(520): Show c.630+155_630+156insAGGGGAGGGGCTGGGCTCCGGCGGGGGGGA GGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGG GGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGG CTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGAGGGGAGGGGCT GGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGG GCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGC TCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGGAGGGGCTGGGCT CCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCC GGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGG CGGGGGGGAGGGGCTGGGCTCCGGCGGTGGGGAGGGGCTGGGCTCCGGCG GTGGGGAGGGGCTGGGCTCCGGCGG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COPG2_chr7_130501238_130673748	130591233	T T	TCTGCCCA others(498): Show TCTGCCCAGCCAGCCGCCCTGTCTGGGAAGGAGGTGGGGGGGGTCAGCCC CCCACCCGGCCAGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGG CCGCCTCTACTGGGAAGAGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGT CCAGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGAGGTCAGCCCCCCCGCCCGGCCAGCTGCCCCGTC CGGGAAGGAGGTGGGGGGGTCAGCACCCCGCCTGGCCAGCCACCCCGTCC GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCTCTACTGGGAAGAGAGGAG CCCCTCTGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGG TCAGCCCCCCACCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCC	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0099 a0001c0002t0001g0099	1	326	0.0031	505	c.737 others(524): Show c.737+19719_737+19720insGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GATGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCTCTTCCCAGTAGAG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCCAGG CGGGGTGCTGACCCCCCCACCTCCTTCCCGGACGGGGCAGCTGGCCGGGC GGGGGGGCTGACCTCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGT GGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCTCTTCCCAGTAGAGGCGGCCGGGCAGAGGCGCCCCTCA CCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGCTGACCCCCCCCACCTC CTTCCCAGACAGGGCGGCTGGCTGGGCAG	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	9/23			chr7	TogoVar
COPG2_chr7_130501238_130673748	130591233	T T	TCTGCCCA others(498): Show TCTGCCCAGCCAGCCGCCCTGTCTGGGAAGGAGGTGGGGGGGTCAGCCCC CCACCCGGCCAGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCTCTACTGGGAAGAGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC CAGGAGGGAGGTGGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGAGGTCAGCCCCCCGCCCGGCCAGCTGCCCCGTCC GGGAAGGAGGTGGGGGGGTCAGCACCCCGCCTGGCCAGCCACCCCGTCCG GGAGGTGAGGGGCGCCTCTGCCCGGCCGCCTCTACTGGGAAGAGAGGAGC CCCTCTGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGGT CAGCCCCCCACCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCC	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0100 a0001c0002t0004g0100	1	326	0.0031	505	c.737 others(524): Show c.737+19719_737+19720insGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCC GGATGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCTCTTCCCAGTAGA GGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCCAG GCGGGGTGCTGACCCCCCCACCTCCTTCCCGGACGGGGCAGCTGGCCGGG CGGGGGGCTGACCTCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGT GGGGGGCTGACCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCTCTTCCCAGTAGAGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTC CTTCCCAGACAGGGCGGCTGGCTGGGCAG	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	9/23			chr7	TogoVar
CUL4A_chr13_113204613_113272108	113232250	G G	GTCACCAC others(498): Show GTCACCACTACCCGCCCACCACCATTACTGCTGCCACCACTACCCGCCCA CCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGCTGCCACCA CTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTAC TGTCACCACTACCCGCCCACCACCATTACTGCTGCCACCACTACCTGCCC ACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACT ACCCGCCCACCACCATTACTGCTGCCACCACTACCCGCCCACCACTATTA CTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCAC CACCATTACTGCTGCCACCACTACCCGCCCACCACTATTACTGTCACCAC TACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACT GTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCA CCATTA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0027 a0002c0002t0001g0027	1	396	0.0025	505	c.513 others(520): Show c.513-927_513-926insTCACCACTACCCGCCCACCACCATTACTGC TGCCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACC ACCATTACTGCTGCCACCACTACCCGCCCACCACCATTACTGTCACCACT ACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTG CTGCCACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCAC CACCATTACTGTCACCACTACCCGCCCACCACCATTACTGCTGCCACCAC TACCCGCCCACCACTATTACTGTCACCACTACCCGCCCACCACCATTACT GTCACCACTACCTGCCCACCACCATTACTGCTGCCACCACTACCCGCCCA CCACTATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTA CCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGT CACCACTACCCGCCCACCACCATTA	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19			chr13	TogoVar
DCDC2_chr6_24166755_24363059	24238177	G G	GGAGGGAG others(498): Show GGAGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAAGGG AGGGAGGGAGGGAGGAATGGAGGGAGGGAGGGAGGGAGGGAGGAATGGAG GGATGGGGAGGGGGAGGGGAGGGGGAGGGGAGTGGAAGGGGGAGGGGAGG GGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGG GAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGG AGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAG GGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAG GGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGG GGGAGGGGAAGGGGAAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGA GGGGGAGGGGAAGGGGAGGGGGAGGGGGAGGGGAAGGGGGAGACAGAGGG GAGGGG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0096 a0003c0003t0005g0096	1	216	0.0046	505	c.923 others(524): Show c.923-33076_923-33075insCCCCTCCCCTCTGTCTCCCCCTTCCC CTCCCCCTCCCCCTCCCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCC CCCTCCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTTCCACT CCCCTCCCCCTCCCCTCCCCCTCCCCATCCCTCCATTCCTCCCTCCCTCC CTCCCTCCCTCCATTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCT TCATTCCTCCCTCCCTCCCTTCCTCCCTC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DCDC2_chr6_24166755_24363059	24238177	G G	GGAGGGAG others(498): Show GGAGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAAGGG AGGGAGGGAGGGAGGAATGGAGGGAGGGAGGGAGGGAGGGAGGAATGGAG GGATGGGGAGGGGGGAGGGGAGGGGGAGGGGAGTGAAGGGGGAGGGGAGG GGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGG GGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGG GAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGG AGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGG GGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGG GGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGGAAGGGGAAGGGGA GGGGGAGGGGAAGGGGAGGGGGAGGGGGAGGGGAAGGGGGAGACAGAGGG GAGGGG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0035 a0002c0002t0035	a0002c0002t0035g0010 a0002c0002t0035g0010	1	216	0.0046	505	c.923 others(524): Show c.923-33076_923-33075insCCCCTCCCCTCTGTCTCCCCCTTCCC CTCCCCCTCCCCCTCCCCTTCCCCTCCCCCTCCCCTTCCCCTTCCCCTCC CCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTTCACTC CCCTCCCCCTCCCCTCCCCCCTCCCCATCCCTCCATTCCTCCCTCCCTCC CTCCCTCCCTCCATTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCT TCATTCCTCCCTCCCTCCCTTCCTCCCTC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DLGAP2_chr8_732628_1713476	747943	C C	CCTGCGGT others(498): Show CCTGCGGTGGGATGGGCGGGTCTGCGGTGGGATGGGGGGCTCTGCGGTGG GATGGGGGGGCTCTGCGGTGGGATGGGGGGCTCTGCGGTGGGATGGGGGG CTCTGCGGTGGGATGGGGGGCTCTGCGGTGGGATGGGGGGGCTCTGCGGT GGGATGGGGGGCTCTGCGGTGGGATGGGGGGCTCTGCGGTGGGATGGGGG GCTCTGCGGTGGGATGGGGGGGCTCTGCGGTGGGATGGGGGGGCTCTGCG GTGGGATGGGGGGCTCTGCGGTGGGATGGGCGGGTCTGCGGTGGGATGGG CGGGTCTGCGGTGGGATGGGGGGCTCTGCGGTGGGATGGGGGGGCTCTGC GGTGGGATGGGGGGCTCTGCGGTGGGATGGGGGGCTCTGCGGTGGGATGG GGGGCTCTGCGGTGGGATGGGGGGCTCTGCGGTGGGATGGGCGGGCCTGC GGTGGGATGGGGGGCTCTGCGGTGGGATGGGCGGGTCTGCGGTGGGATGG GGGGCT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0008 a0001c0002t0010g0008	1	40	0.0250	505	c.18+ others(522): Show c.18+10133_18+10134insCGGGTCTGCGGTGGGATGGGGGGCTCTG CGGTGGGATGGGGGGGCTCTGCGGTGGGATGGGGGGCTCTGCGGTGGGAT GGGGGGCTCTGCGGTGGGATGGGGGGCTCTGCGGTGGGATGGGGGGGCTC TGCGGTGGGATGGGGGGCTCTGCGGTGGGATGGGGGGCTCTGCGGTGGGA TGGGGGGCTCTGCGGTGGGATGGGGGGGCTCTGCGGTGGGATGGGGGGGC TCTGCGGTGGGATGGGGGGCTCTGCGGTGGGATGGGCGGGTCTGCGGTGG GATGGGCGGGTCTGCGGTGGGATGGGGGGCTCTGCGGTGGGATGGGGGGG CTCTGCGGTGGGATGGGGGGCTCTGCGGTGGGATGGGGGGCTCTGCGGTG GGATGGGGGGCTCTGCGGTGGGATGGGGGGCTCTGCGGTGGGATGGGCGG GCCTGCGGTGGGATGGGGGGCTCTGCGGTGGGATGGGCGGGTCTGCGGTG GGATGGGGGGCTCTGCGGTGGGATGGG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
FMN1_chr15_32760544_33199714	32777932	C C	CATTTATT others(498): Show CATTTATTATATATTATGTATAATATATAATACATTTATTATATATTATG TATAATATATAATACATTTATTATATATTATGTATAATATATAATACATT TATTATATATTATGTATAATATATAATACATTTATATTATGTATAATATA TAATACATTTATATTATGTATAATATATAATACATTTATTATGTATAATA TATAATACATTTATATTATGTATAATATATAATACATTTATTATGTATAA TATATAATACATTTATTATATATTATGTATAATATATAATACATTTATTA TGTATAATATATAATACATTTATTATATATTATGTATAATATATAATACA TTTATTATATATTATGTATAATATATAATACATTTATTATATATTATGTA TAATATATAATACATTTATTATATATTATGTATAATATATAATACATTTA TTATATATTATGTATAATATATAATACATTTATTATGTATAATATATAAT ACATTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02809.hp2 HG03540.hp1 HG02559.hp2 HG02809.hp2 HG03540.hp1	a0005 a0007 a0008 a0005 a0007 a0008	a0005c0005 a0007c0019 a0008c0009 a0005c0005 a0007c0019 a0008c0009	a0005c0005t0006 a0007c0019t0006 a0008c0009t0006 a0005c0005t0006 a0007c0019t0006 a0008c0009t0006	a0005c0005t0006g0037 a0007c0019t0006g0038 a0008c0009t0006g0114 a0005c0005t0006g0037 a0007c0019t0006g0038 a0008c0009t0006g0114	3	196	0.0153	505	c.413 others(524): Show c.4131-1014_4131-1013insAAATGTATTATATATTATACATAATA AATGTATTATATATTATACATAATATATAATAAATGTATTATATATTATA CATAATATATAATAAATGTATTATATATTATACATAATATATAATAAATG TATTATATATTATACATAATATATAATAAATGTATTATATATTATACATA ATATATAATAAATGTATTATATATTATACATAATAAATGTATTATATATT ATACATAATATATAATAAATGTATTATATATTATACATAATAAATGTATT ATATATTATACATAATATAAATGTATTATATATTATACATAATAAATGTA TTATATATTATACATAATATAAATGTATTATATATTATACATAATATAAA TGTATTATATATTATACATAATATATAATAAATGTATTATATATTATACA TAATATATAATAAATGTATTATATATTATACATAATATATAATAAATGTA TTATATATTATACATAATATATAATAAAT	FMN1	ENSG00000248905.10	transcript	ENST00000616417.5	protein_coding	19/20			chr15	TogoVar
FMN1_chr15_32760544_33199714	32777984	A A	ATATAATA others(498): Show ATATAATACATGTATTATATATTATACATAATATATAATACATGTATTAT ATATTATACATAATATATAATACATGTATTATATATTATACATAATATAT AATACATGTATTATATATTATATATTATGTATAATATATAATACATGTAT TATATATTATACATAATATATAATACATGTATTATATATTATGTATAATA TATAATACATGTATTATATATTATGTATAATATATAATACATGTATTATA TATTATGTATAATATATAATACATGTATTATATATTATGTATAATATATA ATACATGTATTATATATTATGTATAATATATAATACATGTATTATATATT ATGTATAATATATAATACATGTATTATATATTATGTATAATATATAATAC ATGTATTATATATTATGTATAATATATAATACATGTATTATATATTATGT ATAATATATAATACATGTATTATATATTATGTATAATACATGTATTATAT ATTATG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0012 a0001c0014t0012	a0001c0014t0012g0029 a0001c0014t0012g0029	1	196	0.0051	505	c.413 others(524): Show c.4131-1066_4131-1065insCATAATATATAATACATGTATTATAC ATAATATATAATACATGTATTATATATTATACATAATATATAATACATGT ATTATATATTATACATAATATATAATACATGTATTATATATTATACATAA TATATAATACATGTATTATATATTATACATAATATATAATACATGTATTA TATATTATACATAATATATAATACATGTATTATATATTATACATAATATA TAATACATGTATTATATATTATACATAATATATAATACATGTATTATATA TTATACATAATATATAATACATGTATTATATATTATACATAATATATAAT ACATGTATTATATATTATGTATAATATATAATACATGTATTATATATTAT ACATAATATATAATATATAATACATGTATTATATATTATGTATAATATAT AATACATGTATTATATATTATGTATAATATATAATACATGTATTATATAT TATGTATAATATATAATACATGTATTATA	FMN1	ENSG00000248905.10	transcript	ENST00000616417.5	protein_coding	19/20			chr15	TogoVar
GAL3ST2_chr2_241771822_241809287	241807028	C C	CCCTCCCC others(498): Show CCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCC TCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTG CAGGCCACCCTCCCTCCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCC TCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCCCGCTCAGCCC AGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT CCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCCTCT TAGCCCAGGGACCTCGGCAGGCCACCCTCCCACCCTCCCTCCCTCCCTCC CTCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0103 a0002c0002t0001g0103	1	314	0.0032	505	c.28 others(516): Show c.2862_*2863insCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCA CCCTCCCTCCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCCTCAGCCCAGGGAC CTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCC ACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCC CTCCCCGCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAG GCCACCCTCCCCTCTTAGCCCAGGGACCTCGGCAGGCCACCCTCCCACCC TCCCTCCCTCCCTCCCTCCCT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2742		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807389	G G	GCCCAGGA others(498): Show GCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGACCT CCGCAGGCCACCCTCCTCCCCCCTCAAGCCCAGGACCTCCGCAGGCCACC CTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCC TCAGCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGC CACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCCCTCCG CTCCTCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCA ACCCAGGAACCTCCGCAGGCACCCTCCCTCCCCCTCAACCCAGGGACCCT CCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGAACCTCTGCAGGCCAC CCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCTCC CTCAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	314	0.0032	505	c.32 others(516): Show c.3223_*3224insCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCC CTCAGCCCAGGACCTCCGCAGGCCACCCTCCTCCCCCCTCAAGCCCAGGA CCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGC CACCCTCCCTCCCCCTCAGCCAGGGACCTCCGCAGGCCACCCTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCA GGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGC AGGCCACCCCCTCCGCTCCTCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CCTCCCTCCCCCTCAACCCAGGAACCTCCGCAGGCACCCTCCCTCCCCCT CAACCCAGGGACCCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGA ACCTCTGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGC CACCCTCCCTCCTCCCTCAGC	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3103		chr2	TogoVar
GAS6_chr13_113815549_113869076	113841966	C C	CACCCCAC others(498): Show CACCCCACAGTTTCCTCCATATGCCTCAATTTCCTCCATACGCCCCCCAG TTTCTTCCATACACCCCACAGTTTCCTCCATACGCCCCACAGTTTCCTCC ATATGCCCAGTTTCTTCCATACGCCCCACAGTTTCCTCCATATGCCTCAA TTTCCTCCATACGCCCCCCAGTTTCTTCCATACACCCCACAGTTTCCTCC ATACACCCCCCAGTTTCCTCCATATGCCCAGTTTCCTCCATACACCCCAC AGTTTCCTCCATATGCCTCAATTTCCTCCATACGCCCCCCAGTTTCTTCC ATACACCCCACAGTTTCCTCCATACACCCCACAGTTTCCTCCATATGCCC AGTTTCCTCCATACACCCCACAGTTTCCTCCATATGCCTCAATTTCCTCC ATACGCCCCCCAGTTTCTTCCATACACCCCACAGTTTCCTCCATACGCCC CACAGTTTCCTCCATATGCCCAGTTTCTTCCATACGCCCCACAGTTTCCT CCATAT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0004 a0001c0003t0005g0004	1	143	0.0070	505	c.344 others(522): Show c.344-2117_344-2116insATATGGAGGAAACTGTGGGGCGTATGGA AGAAACTGGGCATATGGAGGAAACTGTGGGGCGTATGGAGGAAACTGTGG GGTGTATGGAAGAAACTGGGGGGCGTATGGAGGAAATTGAGGCATATGGA GGAAACTGTGGGGTGTATGGAGGAAACTGGGCATATGGAGGAAACTGTGG GGTGTATGGAGGAAACTGTGGGGTGTATGGAAGAAACTGGGGGGCGTATG GAGGAAATTGAGGCATATGGAGGAAACTGTGGGGTGTATGGAGGAAACTG GGCATATGGAGGAAACTGGGGGGTGTATGGAGGAAACTGTGGGGTGTATG GAAGAAACTGGGGGGCGTATGGAGGAAATTGAGGCATATGGAGGAAACTG TGGGGCGTATGGAAGAAACTGGGCATATGGAGGAAACTGTGGGGCGTATG GAGGAAACTGTGGGGTGTATGGAAGAAACTGGGGGGCGTATGGAGGAAAT TGAGGCATATGGAGGAAACTGTGGGGT	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	4/14			chr13	TogoVar
GNA15_chr19_3131033_3168749	3145577	T T	TCTCACTC others(498): Show TCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACT GCAACCTCTGCCTCCCAGGTTGAAGCAATTTTCCTGCCTCAGCCTCCCGA GTAGCTGGGATTACTGGCGCCCACGACCACGCCCAGCTAATTTTGTATTT TTAGTAGTAATTTTTGTATTTCACCATATTGGTCAGGCTGGTCTCGAACT CCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTA CAGGCATGAGCCACTGTGCCTGGCCCCTGATACCTTTTCCTCCCTAAATA CTCAGCGAGTTTGAGTTGCACTGAGAAGGAAAAACACTGCGGGACCTTGA TCAAAAGCATGACACAGTGCCCTCCGCTAACACACAGTCCTGATTTGCAA TTTGCCAGTTTTCCCAATTTCCGTGTGAATGTCCTTTACAGCAAGAGAAA AGCCTTTTTCTTTATTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGA CGGAGC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0247 a0001c0002t0001g0247	1	450	0.0022	505	c.146 others(522): Show c.146-2988_146-2987insCAGTGGTGTGATCTCGGCTCACTGCAAC CTCTGCCTCCCAGGTTGAAGCAATTTTCCTGCCTCAGCCTCCCGAGTAGC TGGGATTACTGGCGCCCACGACCACGCCCAGCTAATTTTGTATTTTTAGT AGTAATTTTTGTATTTCACCATATTGGTCAGGCTGGTCTCGAACTCCTGA CCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGC ATGAGCCACTGTGCCTGGCCCCTGATACCTTTTCCTCCCTAAATACTCAG CGAGTTTGAGTTGCACTGAGAAGGAAAAACACTGCGGGACCTTGATCAAA AGCATGACACAGTGCCCTCCGCTAACACACAGTCCTGATTTGCAATTTGC CAGTTTTCCCAATTTCCGTGTGAATGTCCTTTACAGCAAGAGAAAAGCCT TTTTCTTTATTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGACGGAG CCTCACTCTGTCACCCAGGCTGGAGTG	GNA15	ENSG00000060558.4	transcript	ENST00000262958.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
GNA15_chr19_3131033_3168749	3145577	T T	TCTCACTC others(498): Show TCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACT GCAACCTCTGCCTCCCAGGTTGAAGCAATTTTCCTGCCTCAGCCTCCCGA GTAGCTGGGATTACTGGCGCCCACGACCACGCCCAGCTAATTTTTGTATT TTTAGTAGTAATTTTTGTATTTCACCATATTGGTCAGGCTGGTCTCAAAC TCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATT ACAGGCATGAGCCACTGTGCCTGGCCCCTGATACCTTTTCCTCCCTAAAT ACTCAGCGAGTTTGAGTTGCACTGAGAAGGAAAAACACTGCGGGACCTTG ATCAAAAGCATGACACAGTGCCCTCCGCTAACACACAGTCCTGATTTGCA ATTTGCCAGTTTTCCCAATTTCCGTGTGAATGTCCTTTACAGCAAGAGAA AAGCCTTTTTCTTTATTCCTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGA CGGAGC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00733.hp1 HG00733.hp2 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0132 a0001c0003t0001g0133 a0001c0003t0001g0135 a0001c0001t0001g0132 a0001c0003t0001g0133 a0001c0003t0001g0135	3	450	0.0067	505	c.146 others(522): Show c.146-2988_146-2987insCAGTGGTGTGATCTCGGCTCACTGCAAC CTCTGCCTCCCAGGTTGAAGCAATTTTCCTGCCTCAGCCTCCCGAGTAGC TGGGATTACTGGCGCCCACGACCACGCCCAGCTAATTTTTGTATTTTTAG TAGTAATTTTTGTATTTCACCATATTGGTCAGGCTGGTCTCAAACTCCTG ACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG CATGAGCCACTGTGCCTGGCCCCTGATACCTTTTCCTCCCTAAATACTCA GCGAGTTTGAGTTGCACTGAGAAGGAAAAACACTGCGGGACCTTGATCAA AAGCATGACACAGTGCCCTCCGCTAACACACAGTCCTGATTTGCAATTTG CCAGTTTTCCCAATTTCCGTGTGAATGTCCTTTACAGCAAGAGAAAAGCC TTTTTCTTTATTCCTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGACGGAG CCTCACTCTGTCACCCAGGCTGGAGTG	GNA15	ENSG00000060558.4	transcript	ENST00000262958.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
GNA15_chr19_3131033_3168749	3145577	T T	TCTCACTC others(498): Show TCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACT GCAACCTCTGCCTCCCAGGTTGAAGCAATTTTCCTGCCTCAGCCTCCCGA GTAGCTGGGATTACTGGCGCCCACGACCACGCCCAGCTAATTTTTGTATT TTTAGTAGTAATTTTTGTATTTCACCATATTGGTCAGGCTGGTCTCGAAC TCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATT ACAGGCATGAGCCACTGTGCCTGGCCCCTGATACCTTTTCCTCCCTAAAT ACTCAGCGAGTTTGAGTTGCACTGAGAAGGAAAAACACTGCGGGACCTTG ATCAAAAGCATGACACAGTGCCCTCCGCTAACACACAGTCCTGATTTGCA ATTTGCCAGTTTTCCCAATTTCCGTGTGAATGTCCTTTACAGCAAGAGAA AAGCCTTTTTCTTTATTCCTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGA CGGAGC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00621.hp2 HG00639.hp1 others(50): Show HG00140.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG01074.hp1 HG01109.hp2 HG01167.hp1 HG01255.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01884.hp1 HG01993.hp1 HG02027.hp2 HG02040.hp1 HG02083.hp1 HG02145.hp2 HG02148.hp1 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02615.hp1 HG02683.hp2 HG02723.hp1 HG02886.hp1 HG02896.hp1 HG02922.hp1 HG02970.hp2 HG03041.hp1 HG03225.hp1 HG03239.hp2 HG03688.hp1 HG03834.hp1 HG06807.hp2 NA18942.hp2 NA18944.hp1 NA18951.hp2 NA18953.hp1 NA18956.hp2 NA18961.hp1 NA18962.hp1 NA18966.hp2 NA18967.hp2 NA18980.hp1 NA18982.hp1 NA18985.hp2 NA19000.hp1 NA19005.hp2 NA19011.hp1 NA19043.hp2 NA19060.hp1 NA19063.hp1 NA19070.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0005	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0003t0003 a0001c0003t0008 a0001c0003t0015 a0002c0005t0001	a0001c0001t0001g0049 a0001c0001t0001g0073 a0001c0001t0001g0224 others(48): Show a0001c0001t0001g0049 a0001c0001t0001g0073 a0001c0001t0001g0224 a0001c0001t0001g0271 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0328 a0001c0001t0001g0402 a0001c0001t0001g0409 a0001c0002t0001g0033 a0001c0002t0001g0193 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0243 a0001c0002t0001g0244 a0001c0002t0001g0342 a0001c0002t0001g0343 a0001c0002t0001g0366 a0001c0002t0001g0367 a0001c0002t0001g0368 a0001c0002t0001g0371 a0001c0002t0001g0372 a0001c0002t0001g0373 a0001c0002t0001g0375 a0001c0002t0001g0391 a0001c0002t0001g0403 a0001c0002t0001g0408 a0001c0003t0001g0011 a0001c0003t0001g0089 a0001c0003t0001g0136 a0001c0003t0001g0229 a0001c0003t0001g0230 a0001c0003t0001g0231 a0001c0003t0001g0235 a0001c0003t0001g0236 a0001c0003t0001g0253 a0001c0003t0001g0257 a0001c0003t0001g0259 a0001c0003t0001g0281 a0001c0003t0001g0284 a0001c0003t0001g0285 a0001c0003t0001g0286 a0001c0003t0001g0287 a0001c0003t0001g0327 a0001c0003t0001g0374 a0001c0003t0003g0010 a0001c0003t0003g0055 a0001c0003t0003g0220 a0001c0003t0008g0326 a0001c0003t0015g0239 a0002c0005t0001g0053	53	450	0.1178	505	c.146 others(522): Show c.146-2988_146-2987insCAGTGGTGTGATCTCGGCTCACTGCAAC CTCTGCCTCCCAGGTTGAAGCAATTTTCCTGCCTCAGCCTCCCGAGTAGC TGGGATTACTGGCGCCCACGACCACGCCCAGCTAATTTTTGTATTTTTAG TAGTAATTTTTGTATTTCACCATATTGGTCAGGCTGGTCTCGAACTCCTG ACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG CATGAGCCACTGTGCCTGGCCCCTGATACCTTTTCCTCCCTAAATACTCA GCGAGTTTGAGTTGCACTGAGAAGGAAAAACACTGCGGGACCTTGATCAA AAGCATGACACAGTGCCCTCCGCTAACACACAGTCCTGATTTGCAATTTG CCAGTTTTCCCAATTTCCGTGTGAATGTCCTTTACAGCAAGAGAAAAGCC TTTTTCTTTATTCCTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGACGGAG CCTCACTCTGTCACCCAGGCTGGAGTG	GNA15	ENSG00000060558.4	transcript	ENST00000262958.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
GNA15_chr19_3131033_3168749	3145577	T T	TCTCACTC others(498): Show TCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACT GCAACCTCTGCCTCCTAGGTTGAAGCAATTTTCCTGCCTCAGCCTCCCGA GTAGCTGGGATTACTGGCGCCCACGACCACGCCCAGCTAATTTTTGTATT TTTAGTAGTAATTTTTGTATTTCACCATATTGGTCAGGCTGGTCTCGAAC TCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATT ACAGGCATGAGCCACTGTGCCTGGCCCCTGATACCTTTTCCTCCCTAAAT ACTCAGCGAGTTTGAGTTGCACTGAGAAGGAAAAACACTGCGGGACCTTG ATCAAAAGCATGACACAGTGCCCTCCGCTAACACACAGTCCTGATTTGCA ATTTGCCAGTTTTCCCAATTTCCGTGTGAATGTCCTTTACAGCAAGAGAA AAGCCTTTTTCTTTATTCCTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGA CGGAGC	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0152 a0001c0002t0001g0152	1	450	0.0022	505	c.146 others(522): Show c.146-2988_146-2987insCAGTGGTGTGATCTCGGCTCACTGCAAC CTCTGCCTCCTAGGTTGAAGCAATTTTCCTGCCTCAGCCTCCCGAGTAGC TGGGATTACTGGCGCCCACGACCACGCCCAGCTAATTTTTGTATTTTTAG TAGTAATTTTTGTATTTCACCATATTGGTCAGGCTGGTCTCGAACTCCTG ACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG CATGAGCCACTGTGCCTGGCCCCTGATACCTTTTCCTCCCTAAATACTCA GCGAGTTTGAGTTGCACTGAGAAGGAAAAACACTGCGGGACCTTGATCAA AAGCATGACACAGTGCCCTCCGCTAACACACAGTCCTGATTTGCAATTTG CCAGTTTTCCCAATTTCCGTGTGAATGTCCTTTACAGCAAGAGAAAAGCC TTTTTCTTTATTCCTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGACGGAG CCTCACTCTGTCACCCAGGCTGGAGTG	GNA15	ENSG00000060558.4	transcript	ENST00000262958.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
GPR173_chrX_53043789_53085615	53073903	A A	ATATATAA others(498): Show ATATATAAATATATATATTTATATTTATTTTTATATATATAAATATATAT ATTTATATATATATAAATAAATATAAATATATATATTTATATGTATATAT ATAAATATATATATTTATATATATATATTTTATACATATAAATATATATT ATAAATATATATTTATACATATAAATATATATTATAAAATATATATTATA AATATATATTTATACATATAAATATATATTATAAATATATATATTTATAT TTATTTATATATATAAATATATATATTTATATATATACAATATATATATT TATATATATAAATATATATATTTATATTTATTTATATATATATAAATATA TATATTTATATATAAATATATATATTTATATTTATTTCTATATATAAATA TATATATTTATATATAAATATATATTTATATATATAAATATATATATTTA TATTTATAAATATATATATTTATATATATTTATATTTATATATATTTATA TATATT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0054 a0001c0002t0054	a0001c0002t0054g0057 a0001c0002t0054g0057	1	208	0.0048	505	c.-97 others(522): Show c.-97-2616_-97-2615insAATATATATATTTATATTTATTTTTATA TATATAAATATATATATTTATATATATATAAATAAATATAAATATATATA TTTATATGTATATATATAAATATATATATTTATATATATATATTTTATAC ATATAAATATATATTATAAATATATATTTATACATATAAATATATATTAT AAAATATATATTATAAATATATATTTATACATATAAATATATATTATAAA TATATATATTTATATTTATTTATATATATAAATATATATATTTATATATA TACAATATATATATTTATATATATAAATATATATATTTATATTTATTTAT ATATATATAAATATATATATTTATATATAAATATATATATTTATATTTAT TTCTATATATAAATATATATATTTATATATAAATATATATTTATATATAT AAATATATATATTTATATTTATAAATATATATATTTATATATATTTATAT TTATATATATTTATATATATTTATATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53073903	A A	ATATATAT others(498): Show ATATATATAAATATATATATTTATATTTATTTTTATATATATAAATATAT ATATTTATATATATAAATAAATATAAATATATATATTTATATGTATATAT ATAAATATATATATTTATATATATATATTTTATACATATAAATATATATT ATAAATATATATTTATACATATAAATATATATTATAAATATATATTATAA ATATATATTTATACATATAAATATATATTATAAATATATATATTTATATT TATTTATATATATAAATATATATATTTATATATATAAATATATATATTTA TATATATAAATATATATATTTATATTTATTTATATATATATAAATATATA TATTTATATATAAATATATATATTTATATTTATTTCTATATATAAATATA TATATTTATATATATAAATATATATTTATATATATAAATATATATATTTA TATATATAAATATATATATTTATATATATTTATATTTATATATATTTATA TATATT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0204 a0001c0002t0002g0204	1	208	0.0048	505	c.-97 others(522): Show c.-97-2605_-97-2604insATTTATATTTATTTTTATATATATAAAT ATATATATTTATATATATAAATAAATATAAATATATATATTTATATGTAT ATATATAAATATATATATTTATATATATATATTTTATACATATAAATATA TATTATAAATATATATTTATACATATAAATATATATTATAAATATATATT ATAAATATATATTTATACATATAAATATATATTATAAATATATATATTTA TATTTATTTATATATATAAATATATATATTTATATATATAAATATATATA TTTATATATATAAATATATATATTTATATTTATTTATATATATATAAATA TATATATTTATATATAAATATATATATTTATATTTATTTCTATATATAAA TATATATATTTATATATATAAATATATATTTATATATATAAATATATATA TTTATATATATAAATATATATATTTATATATATTTATATTTATATATATT TATATATATTTATATATAAATATATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53073903	A A	ATATATAT others(498): Show ATATATATAAATATATATATTTATATTTATTTTTATATATATAAATATAT ATATTTATATATATATAAATAAATATAAATATATATATTTATATGTATAT ATATAAATATATATATTTATATATATATATTTTATACATATAAATATATA TTATAAATATATATTTATACATATAAATATATATTATAAATATATATTAT AAATATATATTTATACATATAAATATATATTATAAATATATATATTTATA TTTATTTATATATATAAATATATATATTTATATATATAAATATATATATT TATATATATAAATATATATATTTATATTTATTTATATATATATAAATATA TATATTTATATATAAATATATATATTTATATTTATTTCTATATATAAATA TATATATTTATATATAAATATATATTTATATATATAAATATATATATTTA TATTTATAAATATATATATTTATATATATTTATATTTATATATATTTATA TATATT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01934.hp1 HG02257.hp1 others(8): Show HG01243.hp1 HG01934.hp1 HG02257.hp1 HG02280.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02895.hp1 HG02896.hp1 HG03195.hp1 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0007 a0001c0002t0014 others(4): Show a0001c0002t0002 a0001c0002t0007 a0001c0002t0014 a0001c0002t0059 a0001c0002t0060 a0001c0002t0061 a0001c0002t0068	a0001c0002t0002g0056 a0001c0002t0002g0167 a0001c0002t0002g0171 others(8): Show a0001c0002t0002g0056 a0001c0002t0002g0167 a0001c0002t0002g0171 a0001c0002t0002g0196 a0001c0002t0002g0203 a0001c0002t0007g0166 a0001c0002t0014g0165 a0001c0002t0059g0169 a0001c0002t0060g0195 a0001c0002t0061g0187 a0001c0002t0068g0059	11	208	0.0529	505	c.-97 others(522): Show c.-97-2605_-97-2604insATTTATATTTATTTTTATATATATAAAT ATATATATTTATATATATATAAATAAATATAAATATATATATTTATATGT ATATATATAAATATATATATTTATATATATATATTTTATACATATAAATA TATATTATAAATATATATTTATACATATAAATATATATTATAAATATATA TTATAAATATATATTTATACATATAAATATATATTATAAATATATATATT TATATTTATTTATATATATAAATATATATATTTATATATATAAATATATA TATTTATATATATAAATATATATATTTATATTTATTTATATATATATAAA TATATATATTTATATATAAATATATATATTTATATTTATTTCTATATATA AATATATATATTTATATATAAATATATATTTATATATATAAATATATATA TTTATATTTATAAATATATATATTTATATATATTTATATTTATATATATT TATATATATTTATATATAAATATATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GRAMD4_chr22_46615386_46684785	46635424	C C	CCCCCACC others(498): Show CCCCCACCCCTGGCCACTCCTGTCCTGGGGGACCGTGTCTTCCCTGCCCC CGCCCCCGGCCACTCCTGTCCTGGGAGGCCGTATCCTCCCTGCCCCCACC CCTGGCCACTCCTGTCCTGGGAGGCCCTATCCTCCCTGCCCCCGCCCCCG GCCACTCCTGTCCTGGGAGGCCGTGTCTTCCCTGCCCCGCCCCCGGCCAC TCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCACCCCTGGCCACTCCT GTCCTGGGGGCCCGTGTCCTCCCTGCCCCCGCCCCCGGCCACTCCTGTCT TGGGGAGCCGTGTCCTCCCTGCCCCCGACCCCGGCCACTCCTGTCTTGGG GAGCCGTGTCCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGGAAC CGTGTCCTCCCTGCCTCCACCCCTGGCCACTCCTGTCCTGGGGGACCGTG TCTTCCCTGCCCCCGACCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCT GCCTGT	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18952.hp1 NA18982.hp1 NA18946.hp1 NA18952.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0210 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0210 a0001c0001t0003g0238 a0001c0001t0003g0239	3	328	0.0092	505	c.163 others(522): Show c.163-2412_163-2411insACCCCTGGCCACTCCTGTCCTGGGGGAC CGTGTCTTCCCTGCCCCCGCCCCCGGCCACTCCTGTCCTGGGAGGCCGTA TCCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGAGGCCCTATCCT CCCTGCCCCCGCCCCCGGCCACTCCTGTCCTGGGAGGCCGTGTCTTCCCT GCCCCGCCCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCC CACCCCTGGCCACTCCTGTCCTGGGGGCCCGTGTCCTCCCTGCCCCCGCC CCCGGCCACTCCTGTCTTGGGGAGCCGTGTCCTCCCTGCCCCCGACCCCG GCCACTCCTGTCTTGGGGAGCCGTGTCCTCCCTGCCCCCACCCCTGGCCA CTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCTCCACCCCTGGCCACTCC TGTCCTGGGGGACCGTGTCTTCCCTGCCCCCGACCCCGGCCACTCCTGTC CTGGGGAACCGTGTCCTGCCTGTCCCC	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46635526	C C	CGGCCACT others(498): Show CGGCCACTCCTGTCCTGGGAGGCCGTGTCTTCCCTGCCCCGCCCCCGGCC ACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCACCCCTGGCCACTC CTGTCCTGGGGGCCCGTGTCCTCCCTGCCCCCGCCCCCGGCCACTCCTGT CTTGGGGAGCCGTGTCCTCCCTGCCCCCGACCCCGGCCACTCCTGTCTTG GGGAGCCGTGTCCTCCCTGCCCCCACCCCCGGCCACTCCTGTCCTGGGGG ACCGTGTCCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGGGACCG TGTCCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGGAACCGTGTC CTCCCTGCCTCCACCCCTGGCCACTCCTGTCCTGGGGGACCGTGTCTTCC CTGCCCCCGACCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTGCCTGT CCCCGCCCCCGGCCACTCCTGTCCTGGGAGGCCGTGTCCTCCCTGCCCCC ACCCCT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02486.hp1 HG02809.hp2 others(1): Show HG00733.hp1 HG02486.hp1 HG02809.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0003 a0001c0001t0014 a0001c0001t0018 others(1): Show a0001c0001t0003 a0001c0001t0014 a0001c0001t0018 a0001c0008t0055	a0001c0001t0003g0245 a0001c0001t0014g0052 a0001c0001t0018g0230 others(1): Show a0001c0001t0003g0245 a0001c0001t0014g0052 a0001c0001t0018g0230 a0001c0008t0055g0067	4	328	0.0122	505	c.163 others(522): Show c.163-2286_163-2285insTTCCCTGCCCCGCCCCCGGCCACTCCTG TCCTGGGGAACCGTGTCCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCT GGGGGCCCGTGTCCTCCCTGCCCCCGCCCCCGGCCACTCCTGTCTTGGGG AGCCGTGTCCTCCCTGCCCCCGACCCCGGCCACTCCTGTCTTGGGGAGCC GTGTCCTCCCTGCCCCCACCCCCGGCCACTCCTGTCCTGGGGGACCGTGT CCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGGGACCGTGTCCTC CCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTG CCTCCACCCCTGGCCACTCCTGTCCTGGGGGACCGTGTCTTCCCTGCCCC CGACCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTGCCTGTCCCCGCC CCCGGCCACTCCTGTCCTGGGAGGCCGTGTCCTCCCTGCCCCCACCCCTG GCCACTCCTGTCCTGGGAGGCCGTGTC	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46635547	G G	GCTGTATC others(498): Show GCTGTATCCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGAGGCCG TGTCTTCCCTGCCCCGCCCCCGGCCACTCCTGTCCTGGGGGACCGTGTCC TCCCTGCCCCCACCCCCAGCCACTCCTGTCCTGGGGGACCGTGTCCTCCC TGCCCCCACCCCCAGCCACTCCTGTCCTGGAGGACTGTGTCCTCCCTGCC CCCACTCCCAGCCACCCCTGTCCAGGGGAGCTGTGTCCTCCCTGCCCCCA CCCCTGGCCACTCCTGTCCTGGGGGACCGTGTCCTCCCTGCCCCCGCCCC CGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCTCCACCCCTGGC CACTCCTGTCCTGGGAGGCCGTATCCTCCCTGCCCCCACCCCTGGCCACT CCTGTCCTGGGAGGCCGTGTCCTCCCTGCCCCCACCCCCGGCCACTCCTG TCCTGGGGGACCGTGTCTTCCCTGCCCCCGCCCCCGGCCACTCCTGTCCT GGGGGA	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0088 a0001c0002t0004g0088	1	328	0.0031	505	c.163 others(522): Show c.163-2292_163-2291insTGTATCCTCCCTGCCCCCACCCCTGGCC ACTCCTGTCCTGGGAGGCCGTGTCTTCCCTGCCCCGCCCCCGGCCACTCC TGTCCTGGGGGACCGTGTCCTCCCTGCCCCCACCCCCAGCCACTCCTGTC CTGGGGGACCGTGTCCTCCCTGCCCCCACCCCCAGCCACTCCTGTCCTGG AGGACTGTGTCCTCCCTGCCCCCACTCCCAGCCACCCCTGTCCAGGGGAG CTGTGTCCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGGGACCGT GTCCTCCCTGCCCCCGCCCCCGGCCACTCCTGTCCTGGGGAACCGTGTCC TCCCTGCCTCCACCCCTGGCCACTCCTGTCCTGGGAGGCCGTATCCTCCC TGCCCCCACCCCTGGCCACTCCTGTCCTGGGAGGCCGTGTCCTCCCTGCC CCCACCCCCGGCCACTCCTGTCCTGGGGGACCGTGTCTTCCCTGCCCCCG CCCCCGGCCACTCCTGTCCTGGGGGAC	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46635552	G G	GTCTTCCC others(498): Show GTCTTCCCTGCCCCGCCCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCT CCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGGGCCCGTGTCCTCCCT GCCCCCGCCCCCGGCCACTCCTGTCTTGGGGAGCCGTGTCCTCCCTGCCC CCGACCCCGGCCACTCCTGTCTTGGGGAGCCGTGTCCTCCCTGCCCCCAC CCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCACCCCT GGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCTCCACCCCTGGCC ACTCCTGTCCTGGGGGACCGTGTCTTCCCTGCCCCCGACCCCGGCCACTC CTGTCCTGGGGAACCGTGTCCTGCCTGTCCCCGCCCCCGGCCACTCCTGT CCTGGGAGGCCGTGTCCTCCCTGCCCCCACCCCCGGCCACTCCTGTCCTG GGGGACCGTGTCTTCCCTGCCCCCGCCCCCGGCCACTCCTGTCCTGGGAG GCTGTA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02027.hp2 HG02559.hp2 others(9): Show HG01255.hp2 HG02027.hp2 HG02559.hp2 HG02683.hp2 HG03017.hp1 HG03017.hp2 HG03491.hp1 HG03927.hp2 NA19007.hp1 NA19043.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0040 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0040 a0001c0001t0041	a0001c0001t0001g0220 a0001c0001t0003g0006 a0001c0001t0003g0207 others(9): Show a0001c0001t0001g0220 a0001c0001t0003g0006 a0001c0001t0003g0207 a0001c0001t0003g0216 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0226 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0237 a0001c0001t0040g0246 a0001c0001t0041g0006	12	328	0.0366	505	c.163 others(522): Show c.163-2286_163-2285insTTCCCTGCCCCGCCCCCGGCCACTCCTG TCCTGGGGAACCGTGTCCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCT GGGGGCCCGTGTCCTCCCTGCCCCCGCCCCCGGCCACTCCTGTCTTGGGG AGCCGTGTCCTCCCTGCCCCCGACCCCGGCCACTCCTGTCTTGGGGAGCC GTGTCCTCCCTGCCCCCACCCCCGGCCACTCCTGTCCTGGGGAACCGTGT CCTCCCTGCCCCCACCCCTGGCCACTCCTGTCCTGGGGAACCGTGTCCTC CCTGCCTCCACCCCTGGCCACTCCTGTCCTGGGGGACCGTGTCTTCCCTG CCCCCGACCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTGCCTGTCCC CGCCCCCGGCCACTCCTGTCCTGGGAGGCCGTGTCCTCCCTGCCCCCACC CCCGGCCACTCCTGTCCTGGGGGACCGTGTCTTCCCTGCCCCCGCCCCCG GCCACTCCTGTCCTGGGAGGCTGTATC	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
IQCJ_chr3_159064319_159268747	159229707	C C	CCTCCTCC others(498): Show CCTCCTCCCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACCACCCTGTC CTCCTCCCCCACCCCCTCCCCCCTCCTCCCCCTCCCCCCTCCTCCCCCCA CCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCTCC CCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCCCACC TCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTCCCCCCC TCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGCTCTCCCCCTCCT CCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTCCCCCCTCCTCCCCC CTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCC TCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCC ACCTCCCCCCCTCCCCCCCCTCCCTGTCTTCCTCCCCCACCTCCCCCCTC CTCCCA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01168.hp1 HG02922.hp2 others(10): Show HG01106.hp1 HG01168.hp1 HG02922.hp2 HG03139.hp1 HG03540.hp1 HG03654.hp2 HG04199.hp2 NA18941.hp2 NA18966.hp2 NA19007.hp2 NA19030.hp1 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0010 a0001c0001t0001g0020 a0001c0001t0001g0032 others(10): Show a0001c0001t0001g0010 a0001c0001t0001g0020 a0001c0001t0001g0032 a0001c0001t0001g0066 a0001c0001t0001g0121 a0001c0001t0001g0133 a0001c0001t0001g0200 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0245 a0001c0001t0002g0138	13	252	0.0516	505	c.10- others(522): Show c.10-16129_10-16128insCCCCACCCACCCCTCCCCTCTCCTCCCC CCAACCACCCTGTCCTCCTCCCCCACCCCCTCCCCCCTCCTCCCCCTCCC CCCTCCTCCCCCCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCA CCTCCTCCTCCTCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCT CCCCCTCCCCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTC CTCCTCTCCCCCCCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCCT GCTCTCCCCCTCCTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTC CCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCC TCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCC TGTCTTCCTCCCCCACCTCCCCCCCTCCCCCCCCTCCCTGTCTTCCTCCC CCACCTCCCCCCTCCTCCCACTCCTCC	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
IQSEC3_chr12_61767_183455	103869	G G	GGGGGTAG others(498): Show GGGGGTAGGTGGGGGCTCAGGAGGGGAGGTGGGACTCAGGAGGGAGAGGT GGAGTTCGGGGGGAGGCGGGGCTCGGGGGGTAGGTGGGGGCTCAGGAGGG GAGGTAGGACTCAGGAGGGAGAGGTGGAGTTCAGGGGGGAGGCAGGGCTG GGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCAGGGGGGAGGCGGGG CTCGGGAGGGGAGGCGGGGGCTCGGGGGGAGGCGGGGCTCAGGGGGGAGG CGGGGGCTCTGGAGGGGAGGCGGGGGCTCGGGAGGGGAGGCGGGGCTCGG GAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGGGGAGGCGGG GGCTCGGGAGGGGAGGCGGGGGCTCGGGGGGAGGCGGGGCTCAGGGGGGA GGCGGGGGCTCTGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCG GGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCG GGGCTC	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0022 a0022	a0022c0038 a0022c0038	a0022c0038t0007 a0022c0038t0007	a0022c0038t0007g0255 a0022c0038t0007g0255	1	282	0.0036	505	c.623 others(522): Show c.623+4656_623+4657insGGGTAGGTGGGGGCTCAGGAGGGGAGGT GGGACTCAGGAGGGAGAGGTGGAGTTCGGGGGGAGGCGGGGCTCGGGGGG TAGGTGGGGGCTCAGGAGGGGAGGTAGGACTCAGGAGGGAGAGGTGGAGT TCAGGGGGGAGGCAGGGCTGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGG GGCTCAGGGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGGGGA GGCGGGGCTCAGGGGGGAGGCGGGGGCTCTGGAGGGGAGGCGGGGGCTCG GGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCG GGGGCTCGGGGGGAGGCGGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGGG GAGGCGGGGCTCAGGGGGGAGGCGGGGGCTCTGGAGGGGAGGCGGGGCTC TGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCTGGAGGGGAGGC GGGGCTCTGGAGGGGAGGCGGGGCTCG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
LAMA5_chr20_62304065_62372312	62349741	T T	TGGTGGGG others(498): Show TGGTGGGGGTGGGGGTGGTGATGGTGGGGGTGGGGGTGATGATGGTGATG GTGGGGGTGATGACGGTGGGGCTGGGGGTGATGACGGTAGGGGTGATGAC GGTGATGATGGGGGTGGGGGGGGTGATGACGGTGATGGCGGTGGGGGTGA TGACGGTGATGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGG GGGTGGGGGTGATGATGGTGATGGTGGGGGTGATGATGGTGGGGGTGGGG GTGATGATGGTGAGGGTGATGGTGGGGGTGGGGGTGGGGGTGATGATGGT GATGGTGGGGGTGATGGTGGGGGTGGGGGTGAGGGTGATGATGGTGGGGG TGATGGTGGGGGTGGGGGTGGGGGTGATGATGGTGATGGTGGGGGTGATG ATGGTGGGGGTGGGGGTGGGGGTGGGGGTGAGGGTGATGATGGTGGGGGT GGGGGTGGGGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGA CGGTGG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0022 a0022	a0022c0074 a0022c0074	a0022c0074t0001 a0022c0074t0001	a0022c0074t0001g0134 a0022c0074t0001g0134	1	186	0.0054	505	c.956 others(522): Show c.956+1962_956+1963insCCACCGTCATCACCCCCACCCCCACCGT CATCACCCCCACCCCCACCCCCACCCCCACCCCCACCATCATCACCCTCA CCCCCACCCCCACCCCCACCCCCACCATCATCACCCCCACCATCACCATC ATCACCCCCACCCCCACCCCCACCATCACCCCCACCATCATCACCCTCAC CCCCACCCCCACCATCACCCCCACCATCACCATCATCACCCCCACCCCCA CCCCCACCATCACCCTCACCATCATCACCCCCACCCCCACCATCATCACC CCCACCATCACCATCATCACCCCCACCCCCACCGTCATCACCCCCACCCC CACCGTCATCACCCCCACATCACCGTCATCACCCCCACCGCCATCACCGT CATCACCCCCCCCACCCCCATCATCACCGTCATCACCCCTACCGTCATCA CCCCCAGCCCCACCGTCATCACCCCCACCATCACCATCATCACCCCCACC CCCACCATCACCACCCCCACCCCCACC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62349741	T T	TGGTGGGG others(498): Show TGGTGGGGGTGGGGGTGGTGATGGTGGGGGTGGGGGTGGTGATGGTGATG GTGGGGGTGATGACGGTGGGGCTGGGGGTGATGACGGTAGGGGTGATGAC GGTGATGATGGGGGTGGGGGGGGTGATGACGGTGATGGCGGTGGGGGTGA TGACGGTGATGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGG GGGTGGGGGTGATGATGGTGATGGTGGGGGTGATGATGGTGGGGGTGGGG GTGATGATGGTGAGGGTGATGGTGGGGGTGGGGGTGGGGGTGATGATGGT GATGGTGGGGGTGATGGTGGGGGTGGGGGTGAGGGTGATGATGGTGGGGG TGATGGTGGGGGTGGGGGTGGGGGTGATGATGGTGATGGTGGGGGTGATG ATGGTGGGGGTGGGGGTGGGGGTGGGGGTGAGGGTGATGATGGTGGGGGT GGGGGTGGGGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGA CGGTGG	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0000 a0000	a0000c0075 a0000c0075	a0000c0075t0001 a0000c0075t0001	a0000c0075t0001g0120 a0000c0075t0001g0120	1	186	0.0054	505	c.956 others(522): Show c.956+1962_956+1963insCCACCGTCATCACCCCCACCCCCACCGT CATCACCCCCACCCCCACCCCCACCCCCACCCCCACCATCATCACCCTCA CCCCCACCCCCACCCCCACCCCCACCATCATCACCCCCACCATCACCATC ATCACCCCCACCCCCACCCCCACCATCACCCCCACCATCATCACCCTCAC CCCCACCCCCACCATCACCCCCACCATCACCATCATCACCCCCACCCCCA CCCCCACCATCACCCTCACCATCATCACCCCCACCCCCACCATCATCACC CCCACCATCACCATCATCACCCCCACCCCCACCGTCATCACCCCCACCCC CACCGTCATCACCCCCACATCACCGTCATCACCCCCACCGCCATCACCGT CATCACCCCCCCCACCCCCATCATCACCGTCATCACCCCTACCGTCATCA CCCCCAGCCCCACCGTCATCACCCCCACCATCACCATCACCACCCCCACC CCCACCATCACCACCCCCACCCCCACC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79			chr20	TogoVar
LCN15_chr9_136754634_136769518	136769409	A A	ACCCCTCC others(498): Show ACCCCTCCATGCACTGCCCCCCCCGCCACCCCTCCATGCACTGCCCCCCC CGCCACCCCTCCATGCACTGCCCCCCCCGCCACCCCTCCATGCACTGCCC CCCCCGCCACCCCTCCATGCACTGCCCCCCCCGCCACCCCTCCATGCACT GCCCCCCCCGCCACCCCTCCATGCACTGCCCCCCCCGCCACCCCTCCATG CACTGCCCCCCCCGCCACCCCTCCATGCACTGCCCCCCCCGCCACCCCTC CATGCACTGCCCCCCCCGCCACCCCTCCATGCACTGCCCCCCCCGCCACC CCTCCATGCACTGCCCCCCCCGCCACCCCTCCATGCACTGCCCCCCCCGC CACCCCTCCATGCACTGCCCCCCCCGCCACCCCTCCATGCACTGCCCCCC CCGCCACCCCTCCATGCACTGCCCCCCCCGCCACCCCTCCATGCACTGCC CCCCCCGCCACCCCTCCATGCACTGCCCCCCCCGCCACCCCTCCATGCAC TGCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	356	0.0028	505	c.-49 others(516): Show c.-4922_-4921insGGGGCAGTGCATGGAGGGGTGGCGGGGGGGGCAG TGCATGGAGGGGTGGCGGGGGGGGCAGTGCATGGAGGGGTGGCGGGGGGG GCAGTGCATGGAGGGGTGGCGGGGGGGGCAGTGCATGGAGGGGTGGCGGG GGGGGCAGTGCATGGAGGGGTGGCGGGGGGGGCAGTGCATGGAGGGGTGG CGGGGGGGGCAGTGCATGGAGGGGTGGCGGGGGGGGCAGTGCATGGAGGG GTGGCGGGGGGGGCAGTGCATGGAGGGGTGGCGGGGGGGGCAGTGCATGG AGGGGTGGCGGGGGGGGCAGTGCATGGAGGGGTGGCGGGGGGGGCAGTGC ATGGAGGGGTGGCGGGGGGGGCAGTGCATGGAGGGGTGGCGGGGGGGGCA GTGCATGGAGGGGTGGCGGGGGGGGCAGTGCATGGAGGGGTGGCGGGGGG GGCAGTGCATGGAGGGGTGGCGGGGGGGGCAGTGCATGGAGGGGTGGCGG GGGGGGCAGTGCATGGAGGGG	LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding		4892		chr9	TogoVar
LHFPL3_chr7_104323603_104913561	104824213	T T	TATAATAT others(498): Show TATAATATATATATTATATATTATATATATAATATATATATTATATATTA TATATATAATATATATTATATATTATATATAATATATTATATATTATATA TAATATATTATATATTATATATATAATATATTATATATTATATATATAAT ATATTATATATTATATATTATATATATTATATTATATATTATATATAATT ATATATATTTTATATATTATATATTATATATTATATATTATATATTATAT ATATTATATATTATATATTATATATTATATATATTATATATTATATATAC AATTATATATATTATATATATTATATATTATATAATATATTATATATATA ATATATATTATATATTATATATTATATAATATATTATATATATAATATAT TATATATTATATATTATATAATATATTATATATTATATATATTATATATT ATATATTATATATTATATATATAATATATATTATATATTATATATTATAT ATATTA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0017 a0001c0002t0010g0017	1	86	0.0116	505	c.683 others(524): Show c.683-81974_683-81973insATAATATATATATTATATATTATATA TATAATATATATATTATATATTATATATATAATATATATTATATATTATA TATAATATATTATATATTATATATAATATATTATATATTATATATATAAT ATATTATATATTATATATATAATATATTATATATTATATATTATATATAT TATATTATATATTATATATAATTATATATATTTTATATATTATATATTAT ATATTATATATTATATATTATATATATTATATATTATATATTATATATTA TATATATTATATATTATATATACAATTATATATATTATATATATTATATA TTATATAATATATTATATATATAATATATATTATATATTATATATTATAT AATATATTATATATATAATATATTATATATTATATATTATATAATATATT ATATATTATATATATTATATATTATATATTATATATTATATATATAATAT ATATTATATATTATATATTATATATATTA	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1990702	C C	CCGCCACT others(498): Show CCGCCACTGCTGGCCTCACGAGCACCGCTGGGTGCCTGAGCACCTGCCCC ACCAGAGCGCCACTGCTGGCCTCACGAGCACCGCTGGGTGCCTGAGCACC TGCCCCACCAGAGCCGCCACTGCTGGCCTCACGAGCACCGCTGGGTGCCT GAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCACCGCTGG GTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCAC CGCTGGGTGCCTGAGCACCTGCCCCAACAGAGCGCCACTGCTGGCCTCAC GAGCACCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGG CCTCACGAGCACCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCAC TGCTGGCCTCACGAGCACCGCTGGGTGCCTGAGCACCTGCCCCACCAGAG CGCCACTGCTGGCCTCACGAGCACCGCTGGGTGCCTGAGCACCTGCCCCA CCAGAG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02523.hp1 HG00642.hp1 HG02523.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0092 a0001c0004t0001g0205 a0001c0004t0001g0092 a0001c0004t0001g0205	2	264	0.0076	505	c.141 others(526): Show c.1417-10162_1417-10161insCTCTGGTGGGGCAGGTGCTCAGGC ACCCAGCGGTGCTCGTGAGGCCAGCAGTGGCGCTCTGGTGGGGCAGGTGC TCAGGCACCCAGCGGTGCTCGTGAGGCCAGCAGTGGCGCTCTGGTGGGGC AGGTGCTCAGGCACCCAGCGGTGCTCGTGAGGCCAGCAGTGGCGCTCTGG TGGGGCAGGTGCTCAGGCACCCAGCGGTGCTCGTGAGGCCAGCAGTGGCG CTCTGTTGGGGCAGGTGCTCAGGCACCCAGCGGTGCTCGTGAGGCCAGCA GTGGCGCTCTGGTGGGGCAGGTGCTCAGGCACCCAGCGGTGCTCGTGAGG CCAGCAGTGGCGCTCTGGTGGGGCAGGTGCTCAGGCACCCAGCGGTGCTC GTGAGGCCAGCAGTGGCGGCTCTGGTGGGGCAGGTGCTCAGGCACCCAGC GGTGCTCGTGAGGCCAGCAGTGGCGCTCTGGTGGGGCAGGTGCTCAGGCA CCCAGCGGTGCTCGTGAGGCCAGCAGTGGCG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	14/18			chr7	TogoVar
MBP_chr18_76973833_77137783	77028596	C C	CGGGGCGG others(498): Show CGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGG ATGGGGCGGCTAGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CGGGGCAGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGTGGG GGCTGACCCCCCCCTACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGACGGGGTGCTGGCTGGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTC CCGGAT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0366 a0001c0001t0008g0366	1	396	0.0025	505	c.140 others(524): Show c.140-11329_140-11328insATCCGGGAGGGAGGTGGGGGGGGTCA GCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCACC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTAGGGGGGGGTCAGCCCCCACGCCCGGCCAGCCGCC CCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGT GAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCGCCCGGCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCCGGCTAGCCGCCCCATCCGGGAGGGAGGTGGGGGGG GTCAGCCCCCCTGCCCGGCCAGCCGCCCC	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	3/8			chr18	TogoVar
MCF2L2_chr3_183173041_183433619	183314931	T T	TTTGAGAC others(498): Show TTTGAGACAGAATTTCACTCTTGTTGCCCAGGCTGGAGTACAATGGTACG ATCTCAGCTCATTGCAACCTCCGCCTCCCAGGTTCAAGAGATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATGTCCGGG TAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCGTGTTGGTCAGGCTG GTCTCAAACTCCCGACTTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGT GCTGGTATTACAGGTGTGAGCCACTGCACCTGGCCAGTATCTCTTTTTTT CTAATATAAACCATTTCTCTCTTTAAGCCATTTTTGGATGAGAAAGAGGA AATATATAACTCTAGTTTAATGATTTTGGTATTCTTGCTTCTAAGCTACA AGATAACGAACAAAGAAATCAGATTTGAATTAGGACAATAATCAGTAATC ACAAAAAGGCCTTAAGAAATTCTCTGTATTTTTTTGGTTTGTTTTTTGTT TGTTTG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG03831.hp2 NA18941.hp2 others(2): Show HG01361.hp2 HG03831.hp2 NA18941.hp2 NA18984.hp2 NA19088.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0012	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0012c0011	a0001c0001t0001 a0002c0002t0001 a0003c0003t0003 others(2): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0003 a0012c0011t0001 a0012c0011t0002	a0001c0001t0001g0018 a0002c0002t0001g0056 a0003c0003t0003g0083 others(2): Show a0001c0001t0001g0018 a0002c0002t0001g0056 a0003c0003t0003g0083 a0012c0011t0001g0028 a0012c0011t0002g0031	5	176	0.0284	505	c.753 others(522): Show c.753+3136_753+3137insCAAACAAACAAAAAACAAACCAAAAAAA TACAGAGAATTTCTTAAGGCCTTTTTGTGATTACTGATTATTGTCCTAAT TCAAATCTGATTTCTTTGTTCGTTATCTTGTAGCTTAGAAGCAAGAATAC CAAAATCATTAAACTAGAGTTATATATTTCCTCTTTCTCATCCAAAAATG GCTTAAAGAGAGAAATGGTTTATATTAGAAAAAAAGAGATACTGGCCAGG TGCAGTGGCTCACACCTGTAATACCAGCACTTTGGGAGGCCAAGGCGGGT GGATCACCTGAAGTCGGGAGTTTGAGACCAGCCTGACCAACACGGAGAAA CCCCATCTCTACTAAAAATACAAAATTACCCGGACATGGTGGTGCATGCC TGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCTG GGAGGCGGAGGTTGCAATGAGCTGAGATCGTACCATTGTACTCCAGCCTG GGCAACAAGAGTGAAATTCTGTCTCAA	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	7/29			chr3	TogoVar
MCMBP_chr10_119824440_119877843	119864583	A A	ATTTTTTT others(498): Show ATTTTTTTTTTTAAAGAGCTTTGAGTTTCACTGATTTTTTCTTTTTTTTC TGTTTTCTATTTCATGGATTTTTGTTCTCTATTATTTCTTTCTTCTGTTT AATTTGGGTTTATTTTGCTCTTCATTTCTAGTTTCATAGGTGGAAGCTTA AATTATTCACTTGAGACCTTCTCTTCTAATTAAGGCAGCTAATGCATCTA AGCACGTCTTTGGCTGTATCCCACAAATTTTGGTATGTTGAGTTTTCATT TTGGTTTAGTTCACAATATTCAAAGCTTTCCTTTGAGAGTTTTTAATCCA TGGATTATTTAGAAGTGTTCTTCTTATATATAAAGTTTACTATTTGGTTT ATGACCCAGAATGTGGTTTATCTTGGTGAATTTACAGGTGCACTTGAAAA GAATGTGTATTCTGCTGTCATTAGGTAAACAAATGTCAATTAGATCTACT TGGTTGACAGTGTTGTGTAGTTTTGTGTTGTTCAGTAGGTTTACAATTTT ATTGAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00423.hp1 others(41): Show HG00099.hp1 HG00140.hp2 HG00423.hp1 HG01069.hp1 HG01167.hp1 HG02027.hp1 HG02074.hp2 HG02132.hp1 HG02155.hp1 HG02165.hp2 HG02602.hp2 HG03491.hp2 HG03492.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03927.hp1 HG04115.hp1 HG04184.hp2 HG04204.hp1 NA18946.hp2 NA18947.hp1 NA18961.hp2 NA18966.hp2 NA18967.hp1 NA18973.hp1 NA18975.hp2 NA18977.hp2 NA18986.hp1 NA18990.hp2 NA18992.hp1 NA18995.hp1 NA19001.hp1 NA19002.hp1 NA19007.hp1 NA19011.hp1 NA19054.hp1 NA19057.hp1 NA19062.hp1 NA19065.hp1 NA19072.hp1 NA19075.hp2 NA19090.hp1 NA20905.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0012 a0001c0001 a0004c0012	a0001c0001t0003 a0001c0001t0009 a0001c0001t0016 others(3): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0004c0012t0003	a0001c0001t0003g0001 a0001c0001t0003g0010 a0001c0001t0003g0051 others(36): Show a0001c0001t0003g0001 a0001c0001t0003g0010 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0055 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0009g0057 a0001c0001t0009g0058 a0001c0001t0009g0059 a0001c0001t0009g0060 a0001c0001t0009g0087 a0001c0001t0016g0054 a0001c0001t0017g0069 a0001c0001t0019g0063 a0004c0012t0003g0072	44	400	0.1100	505	c.59- others(520): Show c.59-4700_59-4699insATCAATAAAATTGTAAACCTACTGAACAAC ACAAAACTACACAACACTGTCAACCAAGTAGATCTAATTGACATTTGTTT ACCTAATGACAGCAGAATACACATTCTTTTCAAGTGCACCTGTAAATTCA CCAAGATAAACCACATTCTGGGTCATAAACCAAATAGTAAACTTTATATA TAAGAAGAACACTTCTAAATAATCCATGGATTAAAAACTCTCAAAGGAAA GCTTTGAATATTGTGAACTAAACCAAAATGAAAACTCAACATACCAAAAT TTGTGGGATACAGCCAAAGACGTGCTTAGATGCATTAGCTGCCTTAATTA GAAGAGAAGGTCTCAAGTGAATAATTTAAGCTTCCACCTATGAAACTAGA AATGAAGAGCAAAATAAACCCAAATTAAACAGAAGAAAGAAATAATAGAG AACAAAAATCCATGAAATAGAAAACAGAAAAAAAAGAAAAAATCAGTGAA ACTCAAAGCTCTTTAAAAAAAAAAA	MCMBP	ENSG00000197771.13	transcript	ENST00000369077.4	protein_coding	1/15			chr10	TogoVar
MRTFA_chr22_40405289_40641719	40537628	T T	TGGGAGGT others(498): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCGG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGTGGGGGGGTCG GCCCTCCTGCCCTGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC CCGTCCAGGATGGAGGTGGGGGGGGGTCAGTCCCCCCGCCCGGCCAGCCG CCCCATCCGGGAGGGAGGTGGGGGGGTCAGTCCCCCGCCTGGCCAGCCGT GCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC ACGTCC	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	256	0.0039	505	c.241 others(524): Show c.241+14477_241+14478insGGACGTGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGA CTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGA CTGACCCCCCCCCACCTCCATCCTGGACGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCC CGGACGGGGCGGCTGGCAGGGCAGGAGGGCCGACCCCCCCACACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACAGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MSH4_chr1_75791882_75918242	75906482	T T	TATACAAT others(498): Show TATACAATATTATATATATTATATATAATATATATACAATATTATATATA TTATATATAATATATATACATATTATATATATTATATATATACATATATA TGTATATATACATATATAATATGTATATATGTATATATATGTATAATATA TATATTGTATATATATATTATACATATGTATATATATATTATACATATAT ATATGTATAATATATATAATGTATATATATACATATTATATATTATATAT AATATATACATATATATTATATATAATATATACATATTATATATTATATA TATAATATATATACATATTATATTATATATAATATATATACATATTACAT ATATTATATATAATATATATACATATATAATATATTATATATTATATATA ATATATATAATATATAATATATATATAATATAATATATTATATATTATAT ATAATATATATAATATATAATATATTATATATTATATATAATATATATAA TATATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01256.hp2 HG01257.hp2 HG00438.hp1 HG01256.hp2 HG01257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0006 a0001c0002t0001 a0001c0002t0006	a0001c0002t0001g0287 a0001c0002t0001g0303 a0001c0002t0006g0293 a0001c0002t0001g0287 a0001c0002t0001g0303 a0001c0002t0006g0293	3	332	0.0090	505	c.262 others(524): Show c.2620-6213_2620-6212insTACAATATTATATATATTATATATAA TATATATACAATATTATATATATTATATATAATATATATACATATTATAT ATATTATATATATACATATATATGTATATATACATATATAATATGTATAT ATGTATATATATGTATAATATATATATTGTATATATATATTATACATATG TATATATATATTATACATATATATATGTATAATATATATAATGTATATAT ATACATATTATATATTATATATAATATATACATATATATTATATATAATA TATACATATTATATATTATATATATAATATATATACATATTATATTATAT ATAATATATATACATATTACATATATTATATATAATATATATACATATAT AATATATTATATATTATATATAATATATATAATATATAATATATATATAA TATAATATATTATATATTATATATAATATATATAATATATAATATATTAT ATATTATATATAATATATATAATATATAA	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
MSLN_chr16_755734_773862	767711	G G	GGCGTGGA others(498): Show GGCGTGGAGGGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGGTGTGG AGGGGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGC GTGGAGGGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGG GGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGA GGGGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGG CGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGA GGGGCGCGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGGGGCGTG GAGGGGGGTGCGTGGAGGAGGGGCGCGGTGGAGGAGGGGCGCGTGGAGGG GGGAGCGTGGGGGGCGTGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGG GGCGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAG GGGGGC	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0351 a0001c0001t0001g0351	1	388	0.0026	505	c.159 others(522): Show c.1596+250_1596+251insGGGGCGCGTGGAGGAGGAGGGGCGCATG GGGGGGGTGTGGAGGGGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGCC GTGTGGGGGGGCGTGGAGGGGGGCGCGTGGAGGAGGAGGGGCGCATGGGG GGGTGTGGAGGGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTG GGGGGGCGTGGAGGGGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGT GTGGAGGGGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGG GGGCGTGGAGGAGGGGCGCGTGGAGGGGGGCGCGTGGGGGGGGCGCATGG GGGGGGGGCGTGGAGGGGGGTGCGTGGAGGAGGGGCGCGGTGGAGGAGGG GCGCGTGGAGGGGGGAGCGTGGGGGGCGTGGAGGAGGGGCGCATGGGGGG GTGTGGAGGGGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGG GGGGGCGTGGAGGGGGGCGCGTGGAGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	767711	G G	GGTGCGTG others(498): Show GGTGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGCGTGGGGGGCGTGGAGG AGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGTGTG GAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGGGGTGCGT GGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGG GGCGCGTGGAGGGGGCACGTGGAGGGGTCGCGTGGAGGAGGGGCGCGTGG AGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGGCGCG TGGGGGGGTGTGGAGGGGGGCGCGTGGGGGTGTGTGGGGGGGGCACGTGG AGGGGGGCGTGTGGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGGGC GCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGCGTGG GGGGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAG GGGGGC	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0283	1	388	0.0026	505	c.159 others(522): Show c.1596+242_1596+243insTGCGTGGAGGAGGGGCGCGTGGAGGGGG GAGCGTGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGG GCGTGGAGGAGGGGCGTGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGG GGGCGTGGAGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCG CATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGCACGTGGAGGGGTCG CGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGG GGCGCGTGGAGGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCGCGTGGGGG TGTGTGGGGGGGGCACGTGGAGGGGGGCGTGTGGGGGGGTGCGTGGAGGA GGGGCGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGAGGGGC GCGTGGAGGGGGGAGCGTGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGG CCGTGTGGGGGGGCGTGGAGGGGGGCG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MYBL2_chr20_43662114_43721482	43696486	A A	ACTGGGAT others(498): Show ACTGGGATTACAGGCGTGAGCCACCACACCAGGCTTAAAATTAGACGATG TCTTACTCTTTTACAACTTTCTTTTTCTATTTAACATATCGTTCCATGTT GTTATGTGTATTCAGATCTCCAACATTCCTGAATTTGCCGTATCTTATTT AACCATTATATTGTCAAACATCTGTTACTATTTCCATCAATGCTATAATG ATCATCATTGTTCAGTTTCTTTGTACATTTGCTGAACTGTGTGGTTGATT TTTTTTGTTTTTAGATGGGGTCTCACTCTGTTGCCAGGCTGGAGTGCAGT GGTGTGACCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTGAAGTGATTC TCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCAGCACCATG CCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGC CAGGATGGTCTCGATTTCTTGACCTCGTGATCTCCCCGCCTCAGTCTCCC AAAGTG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00544.hp1 others(143): Show HG00280.hp1 HG00280.hp2 HG00544.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01109.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02027.hp1 HG02055.hp2 HG02071.hp1 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02698.hp1 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02965.hp1 HG02976.hp2 HG03041.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03927.hp1 HG03927.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18941.hp2 NA18945.hp2 NA18946.hp1 NA18950.hp2 NA18951.hp1 NA18955.hp1 NA18959.hp2 NA18963.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18975.hp1 NA18977.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18990.hp2 NA18992.hp2 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA19000.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19058.hp1 NA19063.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19085.hp1 NA19088.hp1 NA19089.hp1 NA20129.hp1 NA20129.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0007 a0009	a0001c0001 a0001c0011 a0001c0015 others(4): Show a0001c0001 a0001c0011 a0001c0015 a0002c0003 a0006c0009 a0007c0016 a0009c0012	a0001c0001t0001 a0001c0001t0004 a0001c0011t0001 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0011t0001 a0001c0015t0001 a0002c0003t0001 a0006c0009t0001 a0007c0016t0003 a0009c0012t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(138): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0048 a0001c0001t0001g0062 a0001c0001t0001g0104 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0264 a0001c0001t0004g0130 a0001c0011t0001g0259 a0001c0015t0001g0131 a0002c0003t0001g0212 a0006c0009t0001g0172 a0006c0009t0001g0233 a0007c0016t0003g0254 a0009c0012t0001g0245	146	274	0.5329	505	c.664 others(522): Show c.664-3017_664-3016insTGTTTTTAGATGGGGTCTCACTCTGTTG CCAGGCTGGAGTGCAGTGGTGTGACCTTGGCTCACTGCAACCTCCGCCTC CCGGGTTGAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTAC AGGCATGCAGCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGG GGTTTCACCATGTTGGCCAGGATGGTCTCGATTTCTTGACCTCGTGATCT CCCCGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACA CCAGGCTTAAAATTAGACGATGTCTTACTCTTTTACAACTTTCTTTTTCT ATTTAACATATCGTTCCATGTTGTTATGTGTATTCAGATCTCCAACATTC CTGAATTTGCCGTATCTTATTTAACCATTATATTGTCAAACATCTGTTAC TATTTCCATCAATGCTATAATGATCATCATTGTTCAGTTTCTTTGTACAT TTGCTGAACTGTGTGGTTGATTTTTTT	MYBL2	ENSG00000101057.16	transcript	ENST00000217026.5	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr20	TogoVar
NEU4_chr2_241804193_241822413	241807389	G G	GCCCAGGA others(498): Show GCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGACCT CCGCAGGCCACCCTCCTCCCCCCTCAAGCCCAGGACCTCCGCAGGCCACC CTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCC TCAGCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGC CACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCCCTCCG CTCCTCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCA ACCCAGGAACCTCCGCAGGCACCCTCCCTCCCCCTCAACCCAGGGACCCT CCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGAACCTCTGCAGGCCAC CCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCTCC CTCAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0059 a0001c0001t0003g0059	1	319	0.0031	505	c.-18 others(516): Show c.-1889_-1888insCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCC CTCAGCCCAGGACCTCCGCAGGCCACCCTCCTCCCCCCTCAAGCCCAGGA CCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGC CACCCTCCCTCCCCCTCAGCCAGGGACCTCCGCAGGCCACCCTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCA GGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGC AGGCCACCCCCTCCGCTCCTCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CCTCCCTCCCCCTCAACCCAGGAACCTCCGCAGGCACCCTCCCTCCCCCT CAACCCAGGGACCCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGA ACCTCTGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGC CACCCTCCCTCCTCCCTCAGC	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1803		chr2	TogoVar
NXN_chr17_794310_984776	841394	G G	GGCGAGCA others(498): Show GGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCACACCCGCGAGCAGGT CCTCCCGACCACGGAGCATCTCACACGGGCGAGCAGGTCCACCCTGACCA CGGCGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTC ACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACACGGGCGAG CAGGTCCCCCCTGACCATGGAGCATCTCACACGGGCGAGCAGGTCCACCC TGACCACGGCGCATCTCACACCCGCGAGCAGGTCCCCCCTGACCACGGCG CATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACACG GGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCACACCCGCGAGCAGGT CCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCGACCA CAGCGCATCTCATGCCGGCGAGCAGGTCCCCCCTGACCACGGCGCATCTC ACACCC	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0165 a0001c0001t0003g0165	1	242	0.0041	505	c.361 others(524): Show c.361-15317_361-15316insGGGTGTGAGATGCGCCGTGGTCAGGG GGGACCTGCTCGCCGGCATGAGATGCGCTGTGGTCGGGGGGACCTGCTCG CCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCGGGTGTGAGA TGCGCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGT CAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGGGGACC TGCTCGCGGGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGT GTGAGATGCTCCATGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCGC CGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGG GGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTC GCCCGTGTGAGATGCTCCGTGGTCGGGAGGACCTGCTCGCGGGTGTGAGA TGCGCCGTGGTCAGGGGGGACCTGCTCGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OTOF_chr2_26452203_26563756	26476536	C C	CCCCTTCC others(498): Show CCCCTTCCCCCACCCCTTCCCCAACCCTCCTTCCCCACCCCCCTTCCCCC ACCCCTTCCCCCACCTCCTTCCCCACCCTTCCCCCCACCTCCTTCCCCAC CCCTTCCCCACCTCCTTCCCCACCCCTTCCCCCACCCCTTCCCCCACCTC CTTCCCCACCCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTT CCCCACCTCCTTCCCCACCCCTTCCCCACCTCCTTCCCCACCCCTTCCCC ACCTCCTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCAC CCCTTCCCCCACCCCTTCCCCACCCCTTCCCCCACCCCTTCCCCCACCTC CTTCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCT TCCCCACCACCTTCCCCCCACCTCCTTCCCCACCCCTTCCCCCACCTCCT TCCCCACCCCTTCCCCCACCCCTTCCCCCACCTCCTTCCCCACCCCTTCC CCCACG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0107 a0001c0015t0001g0107	1	284	0.0035	505	c.267 others(522): Show c.2677-220_2677-219insCGTGGGGGAAGGGGTGGGGAAGGAGGTG GGGGAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGG GAAGGAGGTGGGGGGAAGGTGGTGGGGAAGGAGGTGGGGGAAGGGGTGGG GAAGGAGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGG AAGGGGTGGGGAAGGGGTGGGGGAAGGGGTGGGGGAAGGGGTGGGGAAGG AGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGAAGGGGTGGGGAAGGAGG TGGGGAAGGGGTGGGGAAGGAGGTGGGGAAGGGGTGGGGAAGGAGGTGGG GGAAGGGGTGGGGGAAGGGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGG AAGGGGTGGGGAAGGAGGTGGGGAAGGGGTGGGGAAGGAGGTGGGGGGAA GGGTGGGGAAGGAGGTGGGGGAAGGGGTGGGGGAAGGGGGGTGGGGAAGG AGGGTTGGGGAAGGGGTGGGGGAAGGG	OTOF	ENSG00000115155.19	transcript	ENST00000272371.7	protein_coding	22/46			chr2	TogoVar
PCBP3_chr21_45638725_45947450	45910104	C C	CCCCGCCC others(498): Show CCCCGCCCACTGCCCAGATACGGACCCCCCCCCGCCCACTGCCCAGATAC GGACCCCCCCCGCCCACTGCCCAGATACGGACCCGGCCCACCCACTGCCC AGATACGGACCTGGCCACCCACTGCCCAGATACGGACCCGGCCACCCACT GCCCAGATACAGACCCGGCCCACCCACTGCCCAGATACGGACCCCCCCCG CCCACTGCCCAGATACGGACCCGGCCCACCCACTGCCCAGATACGGACCC GGCCACCCACTGCCCAGATACAGACCCGGCCCACCCACTGCCCAGATATG GACCCCCCCAACCCACTTCCCAGATACGGACCCCCCCACACACACTTCCC AGATACGGACCCCCCCCACACACACTTCCCAGATACGGACCCCCCTCACC TGCTTCCCAAATATGGACCTGGCCCACCCACTGCCCAGATATGGACCCCC CCCACCACTGCCCAGATACGGACCCCCCCCCACCCACTTCCCAGATATGG ACCTGG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0218 a0001c0001t0002g0218	1	292	0.0034	505	c.471 others(520): Show c.471+620_471+621insCGCCCACTGCCCAGATACGGACCCCCCCCC GCCCACTGCCCAGATACGGACCCCCCCCGCCCACTGCCCAGATACGGACC CGGCCCACCCACTGCCCAGATACGGACCTGGCCACCCACTGCCCAGATAC GGACCCGGCCACCCACTGCCCAGATACAGACCCGGCCCACCCACTGCCCA GATACGGACCCCCCCCGCCCACTGCCCAGATACGGACCCGGCCCACCCAC TGCCCAGATACGGACCCGGCCACCCACTGCCCAGATACAGACCCGGCCCA CCCACTGCCCAGATATGGACCCCCCCAACCCACTTCCCAGATACGGACCC CCCCACACACACTTCCCAGATACGGACCCCCCCCACACACACTTCCCAGA TACGGACCCCCCTCACCTGCTTCCCAAATATGGACCTGGCCCACCCACTG CCCAGATATGGACCCCCCCCACCACTGCCCAGATACGGACCCCCCCCCAC CCACTTCCCAGATATGGACCTGGCC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(498): Show TTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATAGATCTATTCG GAATAGATCTTTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATA GATCTATTCGGAATAGATCTTTTCAGAATAGATCTATTCGGAATAGATCT TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTTTTCGGATCT TTTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCT ATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0160 a0001c0001t0004g0160	1	262	0.0038	505	c.129 others(522): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCTATTCTG AATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTG AATAGATCCGAATAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTG AAAAGATCCGAAAAGATCTATTCTGAAAAGATCTATTCCGAATAGATCTA TTCTGAAAAGATCTATTCCGAATAGATCTATTCTGAAAAGATCTATTCCG AATAGATCTATTCTGAAAAGATCTATTCCGAATAGATCTATTCTGAAAAG ATCTATTCCGAATAGATCTATTCTGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(498): Show TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTTTTCGGATCT TTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATAGATCTATTCG GAATAGATCTTTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATA GATCTTTTCGGATCTTTTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0199 a0001c0001t0002g0199	1	262	0.0038	505	c.129 others(522): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCTATTCCG AATAGATCTATTCTGAAAAGATCTATTCCGAATAGATCTATTCTGAAAAG ATCTATTCCGAATAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTG AAAAGATCCGAAAAGATCTATTCTGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(498): Show TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTTTTCGGATCT TTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATAGATCTATTCG GAATAGATCTTTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATA GATCTTTTCGGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATA GATCTATTCGGATCTATTCAGAATAGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02109.hp1 NA18973.hp2 HG00408.hp2 HG02109.hp1 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0001t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0174 a0001c0001t0003g0124 a0001c0002t0001g0076 a0001c0001t0001g0174 a0001c0001t0003g0124 a0001c0002t0001g0076	3	262	0.0115	505	c.129 others(522): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAAAAGATCCGAAAAG ATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCTATTCCG AATAGATCTATTCTGAAAAGATCTATTCCGAATAGATCTATTCTGAAAAG ATCTATTCCGAATAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTG AAAAGATCCGAAAAGATCTATTCTGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar

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Search Results (Total: 10000 hits)