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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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
HRNR_chr1_152207076_152229193	152213253	TGAGCCAG others(1403): Show TGAGCCAGACCCATGTTGGCCGTAGCTGGAAGACTGCCCTGAACCAGACC CGTGTCGGCCGTGGCTAAGAGACTGGCCAGATCCAGCCCCATGTCGGCCA TAGCCAGAAGACTGACTGGAGCCAGAGCCACGGTGGCCATAGCTGGAAGA CTGGCCTGTGCTAGATCCCTCCTGGTCAAAGGTTGATGACTGTCCTGATG TAGAACCATGCTGTCCTTGGCTACAGAAGTGCCCTGAGCCACTACCATGC TGACTGTAAGCAGAGGAATGTCCTGAGCCAGACTCATGTTGACCAAAGAC AGAAGAGTGACCCAAGCGAGACTCATATGGGCCACGGCTGGAAGAACGAC CTGAGCCAGACCCATGTTGGCCGTGGCTGGAGGAGTGCCCCAAACCGGAC CCATGTCGGCCGCGGCTAGGGGACTGGCCAGATCCAGACCCTTGTCGGCC GTGGCCCGAAGACTGACGGGAGCCAGACCCATGCTGACCATAGTGGGAAG ACGAACCTGAGCTAGATCCGTGTCGTTCACCCCTAGATGACTGTCCTGAT CTAGAGCCGTGTTGTCCGTAGCCAGAGGAGTGACCTGAGCCAGACCCATG CTGACTGTAACTAGAGGACTGCCCTGAGCTAGACTCGTGGTGACCAAAGC CAGAAGACTCGCCTAAGCCAGACCCATGTTGGCCACTGCTGGAAGACCGA CCGGAGCCAGACCCATGTCGGCCGTAGCTGGGAGACTGCCTTGACCCAGA CCCACGCTGGCCGTGGCCTGGAGACTGGCCAGATCCAGAGCCCTGTCGGC CATAGCCAGAAGACTGACTTGAGCCAGAGCCATGCTGACCGTGGCTGGAA GACTGACCTGAGCTAGCTCCATGTTGGCCACAGCTCGATGACTGTCCTGA TGTAGAACCATGTTGCCCATGGGTAGAGGAATGACCTGAGCTAGATCCAT GTTGACCGTAGCCAGAGGACTGTCCTGAGCGAGACTCTCGGTGACCTAAG CCAGAAGAGTGACCGGAGCCAGACTCATATGGGCCACGGCTGGAAGACCA CCCTGAGCCAGACCCATATGGGCTGTAGCTGGAAGACTGCCCAGAACCAG ACCCATGTCGGCCACGGCTAGGGCTAGGAGACTGGCCAGATCCAGACCCA TGTTGGCCGTGGCCCAAAGACTGACGGGAGCCAGACCCATGCTGACCATA GCTGGAAGATGAACCTGAGCTAGATCCGTGTCGTTCACCCCTAGATGACT GTCCTGACCTAGAGCCGTGTTGTTCGTAGCTGGAGGAGTGACCTGAGCCA GATCCATGCTGAGTGTAACCAGAGGACTGCCATGAGCTAGACTCGTGGTG ACCAAATCCAGAAGACTGACCTGAGCCAGACCCATGTCGGCCACTGCTGG AAGACCAACCG	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00438.hp2 HG01109.hp1 HG02027.hp2 others(10): Show HG00438.hp2 HG01109.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02809.hp1 HG02965.hp1 HG03225.hp1 NA18522.hp1 NA19043.hp1	a0001 a0001	a0001c0013 a0001c0020 a0001c0037 others(3): Show a0001c0013 a0001c0020 a0001c0037 a0001c0040 a0001c0121 a0001c0175	a0001c0013t0005 a0001c0020t0001 a0001c0037t0001 others(3): Show a0001c0013t0005 a0001c0020t0001 a0001c0037t0001 a0001c0040t0001 a0001c0121t0001 a0001c0175t0001	a0001c0013t0005g0018 a0001c0013t0005g0182 a0001c0020t0001g0021 others(4): Show a0001c0013t0005g0018 a0001c0013t0005g0182 a0001c0020t0001g0021 a0001c0037t0001g0025 a0001c0040t0001g0043 a0001c0121t0001g0127 a0001c0175t0001g0066	13	418	0.0311	-1410	c.696 others(9): Show c.6966_8375del	p.Gly others(15): Show p.Gly2323_Ser2792del	HRNR	ENSG00000197915.7	transcript	ENST00000368801.4	protein_coding	3/3	8451/9629	6966/8553	2322/2850			chr1	TogoVar
HRNR_chr1_152207076_152229193	152215169	CTGAGCTA others(1403): Show CTGAGCTAGATCCGTGTCGTTCACCCCTAGATGACTGTCCTGATCTAGAG CCGTGTTGTCCGTAGCCAGAGGAGTGACCTGAGCCAGACCCATGCTGACT GTAACTAGAGGACTGCCCTGAGCTAGACTCGTGGTGACCAAAGCCAGAAG ACTCGCCTAAGCCAGGCCCATGTTGGCCACTGCTGGAAGACCGACCGGAG CCAGACCCATGTCGGCCATAGCTGGGAGACTGCCTTGACCCAGACCCACG CTGGCCGTGGCCTGGAGACTGGCCAGATCCAGAGCCCTGTCGGCCATAGC CAGAAGACTGACTTGAGCCAGAGCCATGCTGACCGTGGCTGGAAGACTGA CCTGAGCTAGCTCCATGTTGGCCACAGCTCGATGACTGTCCTGATGCAGA ACCATGTTGCCCATGGGTAGAGGAATGACCTGAGCTAGATCCATGTTGAC CGTAGCCAGAGGACTGTCCTGAGCGAGACTCTCGGTGACCTAAGCCAGAA GAGTGACCGGAGCCAGACTCATATGGGCCACGGCTGGAAGACCACCCTGA GCCAGACCCATATGGGCCGTAGCTGGAAGACTGCCCAGAACCAGACCCAT GTCGGCCACGGCTAGGGCTAGGAGACTGGCCAGATCCAGACCCATGTTGG CCGTGGCCCAAAGACTGACGGGAGCCAGACCCATGCTGACCATAGCTGGA AGATGAACCTGAGCTAGATCCGTGTTGTTCACCCCTAGATGACTGTCCTG ACCTAGAGCCGTGTTGTTCGTAGCTGGAGGAGTGACCTGAGCCAGATCCA TGCTGAGTGTAACCAGAGGACTGCCATGAGCTAGACTCATGGTGACCAAA TCCAGAAGACTGACCTGAGCCAGACCCATGTCGGCCACTGCTGGAAGACC AACCGGAGCCAGACCCATGTTGGCCGTAGCTGGAAGAGTGCCCGGAACCG GACCCATGTCGGCCGCGACTAGGAGACTGGCCAGATCCAGAGCCCTGTTG GCCATAGCTAGAAGACTGACTTGAGCCAGAGCCATGCTGACCGTGGCTGG AAGACTGACCTGTGCTAGATCCCTCCTGGTCAAAGGTTGATGACTGTCCT GATGTAGAACCATGCTGTCCTTGGCTACAGAAGTGCCCTGAGCCACTACC ATGCTGACTGTAAGCAGAGGAATGTCCTGAGCCAGACTCATGTTGACCAA AGACAGAAGAGTGACCCGAGCGAGACTCATATGGGCCACGGCTGGAAGAA CGACCTGAGCCAGACCCATGTTGGCCGTGGCTGGAGGAGTGCCCCAAACC GGACCCATGTCGGCCGCGGCTAGGGGACTGGCCAGATCCAGACCCTTGTC GGCCGTGGCCCGAAGACTGACGGGAGCCAGACCCATGCTGACCATAGCGG GAAGACGAACG	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02145.hp1 HG02145.hp1	a0011 a0011	a0011c0052 a0011c0052	a0011c0052t0004 a0011c0052t0004	a0011c0052t0004g0177 a0011c0052t0004g0177	1	418	0.0024	-1410	c.505 others(9): Show c.5050_6459del	p.Arg others(15): Show p.Arg1684_Ser2153del	HRNR	ENSG00000197915.7	transcript	ENST00000368801.4	protein_coding	3/3	6535/9629	5050/8553	1684/2850			chr1	TogoVar
HRNR_chr1_152207076_152229193	152216566	CGGGAAGA others(1403): Show CGGGAAGACGAACGTGAGCTAGATCCGTGTCGTTCACCCCTAGATGACTG TCCTGATCTAGAGCCGTGTTGTCCGTAGCCAGAGGAGTGACCTGAGCCAG ACCCATGCTGACTGTAACTAGAGGACTGCCCTGAGCTAGACTCGTGGTGA CCAAAGCCAGAAGACTCGCCTAAGCCAGACCCATGTTGGCCACTGCTGGA AGACCGACCGGAGCCAGACCCATGTCGGCCGTAGCTGGGAGACTGCCTTG ACCCAGACCCACGCTGGCCGTGGCCTGGAGACTGGCCAGATCCAGAGCCC TGTCGGCCATAGCCAGAAGACTGACTTGAGCCAGAGCCATGCTGACCGTG GCTGGAAGACTGACCTGAGCTAGCTCCATGTTGGCCACAGCTCGATGACT GTCCTGATGTAGAACCATGTTGCCCATGGGTAGAGGAATGACCTGAGCTA GATCCATGTTGACCGTAGCCAGAGGACTGTCCTGAGCGAGACTCTCGGTG ACCTAAGCCAGAAGAGTGACTGGAGCCAGACTCATATGGGCCACGGCTGG AAGACCACCCTGAGCCAGACCCATATGGGCTGTAGCTGGAAGACTGCCCA GAACCAGACCCATGTCGGCCACGGCTAGGGCTAGGAGACTGGCCAGATCC AGACCCATGTTGGCCGTGGCCCAAAGACTGACGGGAGCCAGACCCATGCT GACCATAGCTGGAAGATGAACCTGAGCTAGATCCGTGTCGTTCACCCCTA GATGACTGTCCTGACCTAGAGCCGTGTTGTTCGTAGCTGGAGGAGTGACC TGAGCCAGATCCATGCTGAGTGCAACCAGAGGACTGCCATGAGCTAGACT CGTGGTGACCAAATCCAGAAGACTGACCTGAGCCAGACCCATGTCGGCCA CTGCTGGAAGACCAACCGGAGCCAGACCCATGTTGGCCGTAGCTGGAAGA GTGCCCAGAACCGGACCCATGTCGGCCGCGACTAGGAGACTGGCCAGATC CAGCCCCATGTCGGCCATAGCCAGAAGACTGACTGGAGCCAGAGCCACGG TGGCCATAGCTGGAAGACTGGCCTGTGCTAGATCCCTCCTGGTCAAAGGT TGATGACTGTCCTGATGTAGAACCATGCTGTCCTTGGCTACAGAAGTGCC CTGAGCCACTACCATGCTGACTGTAAGCAGAGGAATGTCCTGAGCCAGAC TCATGTTGACCAAAGACAGAAGAGTGACCCGAGCGAGACTCATATGGGCC ACGGCTGGAAGAACGACCTGAGCCAGACCCATGTTGGCCGTGGCTGGAGG AGTGCCCCAAACCGGACCCATGTCGGCCGCGGCTAGGGGAATGGCCAGAT CCAGACCCTTGTCGGCCGTGGCCCGAAGACTGACGGGAGCCAGACCCATG CTGACCATAGT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00408.hp2 HG00609.hp1 HG00673.hp1 others(67): Show HG00408.hp2 HG00609.hp1 HG00673.hp1 HG00673.hp2 HG00741.hp1 HG01106.hp2 HG01175.hp2 HG01243.hp2 HG01256.hp2 HG01261.hp2 HG01433.hp1 HG01496.hp1 HG01516.hp1 HG01517.hp2 HG01928.hp1 HG01943.hp1 HG01978.hp2 HG01981.hp1 HG02056.hp2 HG02080.hp2 HG02148.hp1 HG02148.hp2 HG02523.hp2 HG02738.hp1 HG03017.hp2 HG03491.hp2 HG03492.hp2 HG03654.hp2 HG03688.hp1 HG03831.hp1 NA18612.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp2 NA18947.hp2 NA18953.hp2 NA18955.hp2 NA18957.hp1 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18973.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18990.hp1 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18998.hp2 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19057.hp2 NA19064.hp1 NA19065.hp1 NA19074.hp2 NA19081.hp1 NA19082.hp1 NA19083.hp1 NA19086.hp1 NA19088.hp1 NA19091.hp2 NA20905.hp2	a0001 a0016 a0001 a0016	a0001c0001 a0001c0003 a0001c0038 others(10): Show a0001c0001 a0001c0003 a0001c0038 a0001c0041 a0001c0182 a0001c0186 a0001c0195 a0001c0196 a0001c0197 a0001c0216 a0001c0221 a0001c0222 a0016c0058	a0001c0001t0002 a0001c0001t0012 a0001c0003t0003 others(11): Show a0001c0001t0002 a0001c0001t0012 a0001c0003t0003 a0001c0038t0003 a0001c0041t0002 a0001c0182t0003 a0001c0186t0002 a0001c0195t0002 a0001c0196t0002 a0001c0197t0002 a0001c0216t0002 a0001c0221t0002 a0001c0222t0002 a0016c0058t0002	a0001c0001t0002g0002 a0001c0001t0002g0026 a0001c0001t0002g0052 others(15): Show a0001c0001t0002g0002 a0001c0001t0002g0026 a0001c0001t0002g0052 a0001c0001t0002g0193 a0001c0001t0002g0240 a0001c0001t0012g0226 a0001c0003t0003g0003 a0001c0038t0003g0041 a0001c0041t0002g0044 a0001c0182t0003g0204 a0001c0186t0002g0205 a0001c0195t0002g0210 a0001c0196t0002g0051 a0001c0197t0002g0211 a0001c0216t0002g0227 a0001c0221t0002g0232 a0001c0222t0002g0233 a0016c0058t0002g0199	70	418	0.1675	-1410	c.365 others(9): Show c.3653_5062del	p.His others(15): Show p.His1218_Ser1687del	HRNR	ENSG00000197915.7	transcript	ENST00000368801.4	protein_coding	3/3	5138/9629	3653/8553	1218/2850			chr1	TogoVar
SAMM50_chr22_43950442_44001529	43984831	TATGTTGG others(1403): Show TATGTTGGCCAGACTGGTCTTGAACTCCTGACCTCGTGATCCACCGGCCT TGGCCTTCTAAAGTGCTGGGATTACAGATGTGAGCCACTGCGCCTGGCCC CTACGTATTATTTTTAAACCCATTTCTCTCATCACCTCCCATAAAAATGT AACAGTATATTTTTATGCGAGTAAATGCCATTTTTAACAGGTACATATTT CATATTATTGACATCCTATATTTTAGTTAATAGGCTTAATTTGTTAGAGC AGTTTTAGGTTTACAGAAAAGTTGGGCAAAAAGTACAGTGTTCCCGTATA ACCCCCATAGCTTCCTTATTATTAGCACCTTGTGTTAGGATGCTTCATTG GTTAGGATTGGTGAAGCAATATGATAACCTTATTAACTCAAGGCCATAGT TTACATGAGGGTTCACTCTTAGTGTTGTACCTTCTGTGGGCTTTGACAAA TGCATGATGTCCTGCATTCACCATTCCAGGATCACACAAAGTGGCTTCAC TGCGCTAAAAATGCTGGGCTCCCTTCATCCCTCCCACCAGACCACTGGAA ACGACAGGTCTTTGAACTATCCATGGAGTTTTGCCTTTTCCAGACAGTTT GGGAGTTGGGATCATACAGTTTGTAGCCTTTTCAAGTTGTCTTCTTTTCC GTAGTAATATGCACTTAAGGTCCCTCCATGTCTTTCTGGGACCCAATAAC TTGTTTCTTCTTATTGCTGAATAATATTCCTTTGTCTGGAAGTACCACAG TTTGTTTGTCCATTCAGCTGCCGAAGGACAGCTTGGTTGCTTCTAGTGTT TGGCAGTGATGAGTAAAGCTTCTATCAACATTCACGCGCAGGTTGTTGTG GACAGCTTCTGGGACATAAGTTGTCACATCTGCTGAGTCAGTGCCGGGGA GCGCAGTTGTTTGGTCACGTGTTAAGAGCACGCCTCCCCTTTGTAAGGAG CTGCCAGGCGAGCTTCCGGGGTGGCCGCGTCCTTTTGCATTTCCCCAGTG AGGAATGAGAGAGAGAAAGTTTATCATCTTAATGGCTGCGTGTTTTGTCT TATGACACACTATTATCTTTTTAAAGACCAAATCCCAAGCTTTGGACATT GAGTTTGTGTTTTTTTTTTTCTTTTATGATTATAAAACAATGTATTCACC TTCGAACTGAATGTTGGTACTCATCTGTAAGTTTTATTTATTTATTTATT TTTTCTTTCTTTCTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGT TGCCCAGACTGGAGTGCATTGGCGCAATCTCAGCTCACTGCAACCTCCAC CTCCCAGGTTCAAGTGATTCTCCTGCCTCATCCTCCTGAGTAGCATGATT ACAGGTGCCCGCCACCATGCCCGGCTAATTTTTCTATTTTTATTAGAGAC GGGGTTTCTCC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG02055.hp1 others(4): Show HG01167.hp1 HG01169.hp2 HG02055.hp1 HG02818.hp1 HG03540.hp1 NA19043.hp2 NA19240.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0101 a0001c0006t0001g0103 a0001c0006t0001g0104 others(4): Show a0001c0006t0001g0101 a0001c0006t0001g0103 a0001c0006t0001g0104 a0001c0006t0001g0107 a0001c0006t0001g0108 a0001c0006t0001g0109 a0001c0006t0001g0110	7	378	0.0185	-1410	c.107 others(18): Show c.1075+843_1075+2252del		SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	12/14					INFO_REALIGN_3_PRIME	chr22	TogoVar
DLGAP2_chr8_732628_1713476	1013627	ACGGTGCC others(1402): Show ACGGTGCCTCCACTGTGTGTGTGACCAGGACAGACGCCTCCACTGTGTGA GACCAGGACAGACGATGCCTCCATTGTGTGTATGACCAGGACAGACGACG CCTCCACTGTGTGTGTGACCAGGACAGACGGTGCCTCCACTGTGTGTGTG ACCAGGACAGACGGCGCCTCCACTGCGTGTGTGACCAGGACAGACGGTGC CTCCACTGTGTGAGACCAGGACAGACGATGCCTCCACTGTGTGTATGACC AGGACAGACGACGCCTCCACTGTGTGTGTGACCAGGACAGACGACGCCTC CACTGTGTGTGTGACCAGGACAGACGCCTCCACTGTGTGAGACCAGGACA GACGATGCCTCCACTGTGTGTATGACCAGGACAGACGGCGCCTCCACTGT GTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGAC GATGCCTCCACTGCGTGAGACCAGGACAGACGATGCCTCCATTGTGTGTA TGACCAGGACAGACGACGCCTCCACTGTGTGTGTGACCAGGACAGACGGT GCCTCCACTGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGCGTGTGT GACCAGGACAGACGGTGCCTCCACTGTGTGAGACCAGGACAGACGATGCC TCCACTGTGTGTATGACCAGGACAGACGACGCCTCCACTGTGTGTGTGAC CAGGACAGACGGTGCCTCCACTGTGTGTGTGACCAGGACAGACGCCTCCA CTGTGTGAGACCAGGACAGACGATGCCTCCATTGTGTGTATGACCAGGAC AGACGACGCCTCCACTGTGTGTGTGACCAGGACAGACGGTGCCTCCACTG TGTGTGTGACCAGGACAGACGCCTCCACTGTGTGAGACCAGGACAGACGA TGCCTCCATTGTGTGTATGACCAGGACAGACGACGCCTCCACTGTGTGTG ACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGATGCCT CCACTGTGTGTGTGACCAGGACAGACGGTGCCTCCACTGTGTGTGTGACC AGGACAGACGGCGCCTCCACTGCGTGTGTGACCAGGACAGACGGTGCCTC CACTGTGTGAGACCAGGACAGACGATGCCTCCACTGTGTGTATGACCAGG ACAGACGACGCCTCCACTGTGTGTGTGACCAGGACAGACGACGCCTCCAC TGTGTGTGTGACCAGGACAGACGCCTCCACTGTGTGAGACCAGGACAGAC GATGCCTCCACTGTGTGTATGACCAGGACAGACGGCGCCTCCACTGTGTG AGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGCC TCCACTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGTGACCA GGACAGACGG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0033 a0001c0003t0006g0033	1	40	0.0250	-1409	c.73+ others(19): Show c.73+105664_73+107072del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
GALNT18_chr11_11265877_11627005	11358071	TGCCTCCA others(1402): Show TGCCTCCATCTCCTATGCCCATGTCCAATTTTAAAATCTCTTCTGTTTTC AGAAATGGTCACATAGAGGGCACCTGATCCCATTGTCTTACCTCAAAGTT TTTTCTTTCTTTTTACCTTAGTTTTATAGTTTTGGCTTTCTGTTGAATCC AGGTATTATATTTCTCTCTATCTTAACACCAACTACATGTTACAAGGAAT ATAATACATCTTCACTGTATGAATGAATAGACAGATGAATAATGCAAGCT TTTTGGTTATTTCCACTGTTATTTCTAATGCCAAACTTGCCACATTTTCC CCCTCAAACTATCTCAAATTCTTCTCTAGCCAATGGCACCCTGAAACCTT CCATCATCTGAGTTTGAAATATCAATGCCATCTTTGTTGGACATTTAATA ACTCATTTATAAGAACTAGGAAAGACTAAGTCTTGACTTCTAATAATCAT TGAAATTATTAAAATCCAAAACAATTCTAAGGGAACAGATGGACAATGAC TCAGCTAAGGCTTTGGGTCATTGGGAAAATTCCCTTTGGAAGCACAAAGG CCTGCAAGCTTGAAATCTGTTTGGTGTCTTTTGAAATTCTTGGTCTCAGA AGACCACATAGAAAAACACTTACACCACCATACAACTGTCAGCCTTCTCT AGGTGTTACCCCACCACAGCAGCTGAAGGATAATGCTAAAGGGATTCCAA TTCATGACACAATGATACAAAACAGTGGCAAAGCTAACAGCCCCAATCCA CACAAAACACACACACACACACACACACACACACACACACACGCACAGAC ATGTTATCCCAAGCTCTCGGGTTATTCTGAACTCCAGCTGGCTTGAGCCA ACCATAACATTTAGAAGCAACTAGAAACTACAATCCAATTTAAGGTGTTT AATTTTCTCTGTGTCCAGGGATGGGAAATAAAAGAATCTGCTTGCAGCTT TTCTGTGAGATGTTGCATCTGGTGGTTTTCTGAGACCTTTTCAGCAGAGG AAAAATGCTGGTCCCCAGACCCCCTTCTCCTCACATCTCTCTAACTGTGT GGGCAAAGACGAGGTTGCTTTACCCAAAACTGTGGTGTCCAATGTTTTTA ATTAATTTCCTTATGGCTAGCTGAGAACGGCCATGATACTAACAGTGAGC TGAGATTACTCAGACCTCTAGGTCCAAGGCCTTTGGGGAGAACCACATAC CCAGTCTATCATGTGCTTCAATAACACACATTAACCTGTACACATTAACC TGCCTGGACTGCCTTCACTGGTAATTTTAGCAAAGTTTCCAGCCCTTTAA CCGTGGATACATATTTTTTAAAGTCTCAAATAGCAGTGATGCCTGTTCTA GGCAATTGCTAGGGACCCTTCCTTGCTTTCTCTTCCTCCTCTTTGTCTCT GCTCCCCTGA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG01071.hp2 others(30): Show HG00099.hp1 HG00280.hp2 HG01071.hp2 HG01074.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01358.hp1 HG01361.hp1 HG01516.hp1 HG02055.hp1 HG02572.hp1 HG02622.hp1 HG02647.hp2 HG02809.hp1 HG02965.hp2 HG03516.hp2 HG03834.hp2 HG04184.hp1 NA18906.hp1 NA18945.hp1 NA18978.hp2 NA18994.hp2 NA19043.hp1 NA19057.hp1 NA19057.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0019 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0019 a0001c0002t0001 a0001c0002t0004 a0001c0002t0006 a0001c0003t0001 a0001c0004t0002 a0001c0004t0007 a0001c0005t0001 a0001c0006t0002 a0001c0017t0001	a0001c0001t0001g0101 a0001c0001t0001g0111 a0001c0001t0001g0112 others(30): Show a0001c0001t0001g0101 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0133 a0001c0001t0001g0141 a0001c0001t0001g0160 a0001c0001t0001g0178 a0001c0001t0001g0212 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0258 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0044 a0001c0001t0002g0051 a0001c0001t0002g0056 a0001c0001t0002g0078 a0001c0001t0002g0094 a0001c0001t0019g0260 a0001c0002t0001g0119 a0001c0002t0001g0152 a0001c0002t0001g0254 a0001c0002t0004g0059 a0001c0002t0004g0065 a0001c0002t0004g0091 a0001c0002t0006g0110 a0001c0003t0001g0104 a0001c0004t0002g0037 a0001c0004t0002g0085 a0001c0004t0007g0090 a0001c0005t0001g0163 a0001c0006t0002g0021 a0001c0017t0001g0239	33	260	0.1269	-1409	c.109 others(21): Show c.1092+13035_1092+14443del		GALNT18	ENSG00000110328.6	transcript	ENST00000227756.5	protein_coding	6/10						chr11	TogoVar
COL23A1_chr5_178232618_178595393	178394846	AGCATTCG others(1401): Show AGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCGGCT GTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCTC TCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCGGCCGTCCTCCGAGAG TCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAAAC GTCCAGGCTTGGTTCCGGCCCCGGCCGTCCTCCGAGAGTCTCTCCCCGGC GGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTTGG TTCCGGCCCCGGCCGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGCGCTC TGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCGG CCGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGC TCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCGGCTGTCCTCCGAG AGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAA ACGTCCAGGCTTGGTTCCGGCCCCGGCTGTCCTCCGAGAGTCTCTCCCCG GCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTT GGTTCCGGCCCCGGCTGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGCGC TCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCC GGCTGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCG GCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCGGCTGTCCTCCG AGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCC AAACGTCCAGGCTTGGTTCCGGCCCCGGCTGTCCTCCGAGAGTCTCTCCC CGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGC TTGGTTCCGGCCCCGGCTGTCCTCCGAGAGTCTCTCCCCGGCGGGCAGGC GCTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCC CCGGCTGTCCTCCGAGAGTCTCTCCCTGGCGGGCAGGCGCTCTGGGCATT CGGCTCTCAGCTCCAAACGTCCAGGCTTGGTTCCGGCCCCGGCTGTCCTC CGAGAGTCTCTCCCCGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCT CCAAACGTCCAGGCTTGGTTCCGGCCCCGGCTGTCCTCCGAGAGTCTCTC CCCGGCGGGCAGGCGCTCTGGGCATTCGGCTCTCAGCTCCAAACGTCCAG GCTTGGTTCCGGCCCCGGCTGTCCTCCGAGAGTCTCTCCCCGGCGGGCAG GCGCTCTGG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG01891.hp2 others(12): Show HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02055.hp1 HG02055.hp2 HG02257.hp2 HG02258.hp2 HG02615.hp2 HG02723.hp2 HG02976.hp2 HG03195.hp1 HG06807.hp2 NA18522.hp2 NA18950.hp1 NA19063.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0021 a0002c0002 others(2): Show a0001c0001 a0001c0021 a0002c0002 a0002c0003 a0004c0006	a0001c0001t0003 a0001c0001t0007 a0001c0021t0006 others(7): Show a0001c0001t0003 a0001c0001t0007 a0001c0021t0006 a0002c0002t0001 a0002c0002t0010 a0002c0003t0002 a0002c0003t0003 a0002c0003t0005 a0002c0003t0006 a0004c0006t0003	a0001c0001t0003g0116 a0001c0001t0003g0210 a0001c0001t0007g0118 others(12): Show a0001c0001t0003g0116 a0001c0001t0003g0210 a0001c0001t0007g0118 a0001c0021t0006g0234 a0002c0002t0001g0032 a0002c0002t0010g0228 a0002c0003t0002g0089 a0002c0003t0002g0112 a0002c0003t0002g0209 a0002c0003t0003g0088 a0002c0003t0005g0068 a0002c0003t0005g0092 a0002c0003t0005g0146 a0002c0003t0006g0229 a0004c0006t0003g0167	15	236	0.0636	-1408	c.362 others(19): Show c.362-89335_362-87928del		COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28						chr5	TogoVar
RUSF1_chr16_31484475_31513391	31505063	GTGGCCTC others(1400): Show GTGGCCTCGTGGGAAGGAAAAGACCTGACTGTTCCCCAGCCCGACACCTG TAAAGGGTCTGTGCTGAGGAGGATTAGGAGAGATATGCTGGCGGCAATGC TGCTCTGCTACTCTGCTACACTGAGATGTCTGGGTGGAGAGAAGCATAAG TCTGGCCTACGTGCACATCCGGGCACAGTACCTTCCCTTGAACTTATTTG TGACAGATTCCTTTGCTCGCATGTTTTCCTGCTGACCTTCTCCCCACTAT CACCCTGTTCTCCTGCCGCATTCCCCTTGCCGAGATAGTGAAAATAGTAA TCAATACTGAGGGAATTCAGAGACCAGTGCTGGTGCTGGTCCTCCGCATG CTGAGTGCCGGTCCCCTGGGCCCACTGTTCTTTCTCTATACTCTGTCTCT GTGTCTTATTTCTTTTCTCAGTCTCTCGTCCCACCTGATGAGAAATACCC ACAGTGTGGAAGGGCTGGCCTCCTTCAGTTCTGAATCAAGGCAATCATGG TAACAGTGACAATGAAGAGGATACTGTTACCACTACAGAAAAAGTGCCTA TAGACAGCACGGTGAGGATGTGGGAGGGGATTACTGTGGCACTAGAGCAG CATACATTCATAACGGAACAAGAAATCAGGCAGTTTATAGAATCCAAGAG AGACTTCTAAGATAGAAACCACAGTTAATGAGGCAAATGACTCTGGAGGA AACATTTTAAAAAGCCATCCAGCAGAACACTTCCTCATCCCTAGAGGACC CGCTTCCTGTCCTTCAACTGCTTCTAATGTTTCTTCTCACCTTAAAAAAA TAAAATATGGTGTCCAGTAACCTTTTCACCAAAACAGCTGAAGACTGACA GCCTGCCGTTTTTGTTGCTGCTGCTATGGTTCAGAAGCTGATACAGGTGT TCTGGTGATCTGCTGTGCTGCTTAGTTACCCTGAACACACAATTTCTCAC TGTATTAGTGGTATATCATGTTTTATACTGTTAAGTACTTCTGTGTGAAT AGGTATAAGAAAATGACTGCTTCTTGGTAGCATATACATTCAGAGTCAGG AACGATGGGGACGCTAACCAACCAGATTGTCCACGTGTGGCTGAGACAGT GACATCTTTGCTTTCTGATGGATCAATGAACACAAACTTTGTTTCATGCA CACCATTGAAAATACTGTATAAAACTGCCTTTAAGGTATGTGTATAAAGT ATATATGAAACATAAACGAATTTCATGTTTAGACTTGAGTCTGATCCCCA ACAAATCTCATTATATACATGAAGATATTCCAAAATCCAAAAAAAATTCC AAAATCCAAAACACTTCTGGTTGCAAGCATTTTGGATAAGGGATATTCAA TCTGTATAGGCAACATGTTGGTGACATCACATGAAAACAAAAACTACTGA CCCAAGCT	G G	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	378	0.0027	-1407	c.415 others(17): Show c.415+1294_415+2700del		RUSF1	ENSG00000140688.18	transcript	ENST00000327237.7	protein_coding	2/12						chr16	TogoVar
TRARG1_chr17_1274662_1305978	1296302	TTCTCCTG others(1400): Show TTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCAGCCACC ACGCCCGACTAATTTTTGTATTTTTAGTAGAGACGGTTTCATCATGTTGG CCAGGTTGGTCTCGAACTCCTGACCTCAGGTTATCCACCCACCTTGGCCG CCTAAAATGCTGGGATGACAGGTGTGAGCCGCCACGCCCAGCCCAGGGGA ACCATTTTCTCTTTCTTTTTTTTTTTTTGAGATGGAGTCTCATTCTGTTG CCCAGGCTGGACTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCACCT CCCAGGTTCAAGTGATTCTCCTGTCTCAGCCTCTCGAGTAGCTGGGCTTA CAGGTGCCCACCACCGCACCCAGCTGATTTTGTATTTTTAGTAGAGATGG GGTTTCATCATATCAGTCAGGCTGGTCTCAAACTCCTGACTTCAGGTGAT CCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGCCTGCCACCA CGCCCGGCTAAGTTTGTATTTTTAGTAGAGATGGGGTTGCATCACGTTGG CCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCAGCCTCGGCCT CCTAAAGTGCTGGGATGACAGGCATGAGCCACCGCGCCTGGCCCAGGGGA ACCATTTTCAAAGGTGACTCTCTGCTGTTCAAGAAACCCATGCAGCTTGG TGAGGTGACTTTGGGGGGTCATCCGGGTCTGAACTGCCGATTTTCTTCCT TTCATACACGTACATCAGGAAGTCCCCAAGGATCTCTGCCCATTTCAATG AACCCTAAGCTTTTCCCCTAAAGACCTCGCTGCTCAAACTGTGCTCCCTG GACCTGTGACGGGATTATCGAGGAATGTGTCAGAAACGCAGAACTCCAGG CTCCATCCCTGAACCGGATTGGAATCTGGACTTTAATAAGACTCCCAGCC CAACCGTCAACGTTGGGAGGCACTGGTCTAGAGTGTGGGGTGCCCAACTT GAGCTTGGGACCGAAAGCCTGGGGTTCAGCTGTGGGGCCGCCAGCAACCT TGGCCACTTAGGAGAGGGAAGCGTTCGGGTTTGGAATCAGCGTGCCCAGC TTCAGAATCCAGGTCCCACACTTTCTCACTGTGTGAATTGGAGCGTGTGT GACAGTTTCCTCCATGAGTGAGTCTGATTGACATGCAGGTACATGCAAGG CAGGAGCCCACCAGCCCAGGACATTAGCCTCCGTCTCACCAAATGACGCC TTGGTCTCCATCCTGCTGCTGCTTGTTATTTTAGCCAGGACTTTTTTTTT TTTTTTTTTTTTTTTTTCCCCAGACAGAGTCTTGCTCTGTCGCCCAGGCT AGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCTGTCTCCCAGGTT CAAGCGAA	T T	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0256 a0004c0004t0002g0256	1	402	0.0025	-1407	c.520 others(15): Show c.520+711_521-511del		TRARG1	ENSG00000184811.4	transcript	ENST00000333813.4	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr17	TogoVar
GAL3ST2_chr2_241771822_241809287	241806161	CCCCTCAG others(1399): Show CCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAC CTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCC CCTCAGCCCAGGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCA GGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGC AGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAA CCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC CTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCC CTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGG GACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAG GCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCC TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCGCCTCAG CCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCT CCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGGGACCCGGGAAGAGCAC CTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAACCCAGG GACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	314	0.0032	-1406	c.19 others(11): Show c.1996_*3401del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					1875		chr2	TogoVar
KANK3_chr19_8317584_8348262	8346856	GGAGGCTG others(1399): Show GGAGGCTGAGGTGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCT GGCCAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGG GTGTGGTGGCACGTGCCTGTAGTCCCAGCTACCAGGGAGGCTGAGGCAGG AGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAAAGCCGAGATTGTGCCA CTGCACTCCATCCTGGGCAGTAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAATGCAGAGAGTAATGCTGAACTTAAGGGTTATATGTAGATTCTCTGGT CATTGAGCATATCCAAGTGAACAAAGTACCTAAGATGCGTCGCCAGACCT ACGGAACTCCGGTCGGATTAACCCATGAATGAGTTCTCCCTGCCACACTG AGATGATTCTTACTGAAAAGGAACAGATTTTTCCTAAGCCAGAGGAGGAG GTTGCCCAAAAGAAAAAGATATCCCAAGGCCGGGCGCAGTGGCTCACGCC TGTAATCCCAGCATTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCG GGAGGTCGAGACCAGCCTGACCAACATGGAGAAACCCCATTTCTACTTAA AATATAAAATTAGCCGAGCGTGGTGGCGCATGCATGTAATCCCAGCTACT CAGGAGGAGGCTGAGGCAGGAGAATCATTTGAACCCGGGTGGCAGAGGTT GCGGTGAGCCGAGATCGCACCATCGCACTCCAGCCTGAGCAACAAGAGTG AAACTCCATCTCGGAAAAAAAAAAAAGAAAGAAAAAGATATCCCAGAAGA AACTGAAGAAACAAAAACTTATGGCATGGGAGTAAATTCAGCATTAAAAT AAATGCAATTAAAAGTAAAAAACAAAAACAAAAAACAAAACAAAACCAAC AACAACAACAAAAAACCCCACAAATGTATAGTTTAAGGAGTTCCTCCAGG GGGTAGTTCTCAACCAGGAGTGATTTTGCCCCATGGGAGAATGTTTGACA ATATCCAGGAGCACTTTTGGGTAATGAGGAGGCGGGTGTTTTTGGCCTCT AGAGGGCGGAGGCCAGGAATGTAGCTAACCACCCTGCAATGCACAGGCCA TCCCCAAGGACCAAGAATTATGTGGCCTGAATGTCAAGAGTGCTAAGTTT CAGAAACCCAGTGCTGAGATGAAGGTCATCGTCGCCTCCACCCGGGCCAA CCAACTGCACTTGCCAGCTACCCCAGAAGCGCCTCCGTGGACTATGTCCT AGTCACAGCTGCCCCTCACTCCCTAAGTAACCACTGTTTTGTGACTTTTA TTTATTTGTTTGTTTATTTATTTATTTATTTTTGAGACAGAATCTCGCTC TGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAGTCTC CTGGGTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00544.hp2 HG00558.hp2 others(22): Show HG00323.hp2 HG00544.hp2 HG00558.hp2 HG00642.hp2 HG00741.hp1 HG01074.hp1 HG01081.hp2 HG01168.hp1 HG01192.hp1 HG01257.hp1 HG01358.hp1 HG01361.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01952.hp2 HG01978.hp2 HG02080.hp2 HG02083.hp1 HG03927.hp2 HG06807.hp2 NA19080.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0030 a0006c0006 a0001c0001 a0001c0030 a0006c0006	a0001c0001t0001 a0001c0030t0001 a0006c0006t0002 a0001c0001t0001 a0001c0030t0001 a0006c0006t0002	a0001c0001t0001g0007 a0001c0001t0001g0019 a0001c0001t0001g0082 others(22): Show a0001c0001t0001g0007 a0001c0001t0001g0019 a0001c0001t0001g0082 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0144 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0170 a0001c0001t0001g0239 a0001c0030t0001g0132 a0006c0006t0002g0112	25	406	0.0616	-1406	c.-50 others(11): Show c.-5066_-3661del		KANK3	ENSG00000186994.12	transcript	ENST00000330915.7	protein_coding					3595		chr19	TogoVar
NEU4_chr2_241804193_241822413	241806161	CCCCTCAG others(1399): Show CCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAC CTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCC CCTCAGCCCAGGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCA GGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGC AGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAA CCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC CTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCC CTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGG GACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAG GCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCC TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCGCCTCAG CCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCT CCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGGGACCCGGGAAGAGCAC CTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAACCCAGG GACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0008 a0002c0003t0002g0008	1	319	0.0031	-1406	c.-31 others(11): Show c.-3116_-1711del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					3031		chr2	TogoVar
RAB19_chr7_140399058_140432974	140409776	GAGGTCAG others(1399): Show GAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTC TACTAAAAATACAAAAAATCAGCCGGGCCTGGTGGCGGGTGCCTGTAGTC CCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCG GAGCTTGCACTGAGCCGAGATCATACCACTGCACTCCAGCCTGGGCAACA GAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGATAATAAATAAA AATTTAAAAAATTAAAAAATACTTCAAAGAAATCAACAGAAAGGGCTAGA TGAAGCAAGTAACAAAATCTCATTAATTATTGAATCTGGGTGATAGGTGT ATGAGGTTCTTTTTTTATGTTTTTGAGACAGGGTCTCACTTTGTTGCCCA GATGGAGGGCAGTGGCGCATGATCTCAGCTCGCTATAGCCTCGACTTCCT GTGCTCAAGGAATCCTCCTGCCTCAGTCTCCCAAGTAGCTGGGACTACAG GCATGCGCCACCATGCCCAGCTAATTTTTGTATTTTTCTTTTTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCCCTGTCACCCAGGCCGAACTGCG GACTGCAGTGGCGCAATCTCGGCTCACTGTAAGCTCCGCTTCCCGGGTTC ACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCC GCCACGGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCA CCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCC TCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC TTTTTGTATTTTTCGTACAGATGGGGTTTCACCACATTGCCCAGGCTGGT CTCAAACCCCTGAGCTTAAGCGATCCGCCACCTCAGCCTCCCAAAGTGCT GGGATCACAGGCATGAGCCACTGCACCCAGCCTCATTTTTCTATTATCTC TAGCTTTGGTGTATGTTTGCAAACTTTCTCTAAAAAATAAATTTTATATA AATAGTATGAGAATATGAAGAAATTGCTACCCTCAGACACTGTGAGAGGC TGTGTGAATTGGTGCTGCCGCTTGGGTGGCTAATTTGGGAGGTATTATTG TGAGAACATTCCAAACATGAACAGCTTGAGTGTTCCTTTAAAATCAGAAC AGTTCGGCCAGTATTATCACCTTTGCCAGTATTCAGATCCACGGGCAGAC TCAAAAGATGAGCCCCCAAATCTGGACCAAGTGATGAGTCAGGAGAAAAG GCAAAGAACACAAGACCCCAGGATAAAATAGGCCCACCTCTCGGCCGGGC GCAGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGCCAGCA GATCACA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0338 a0001c0001t0005g0338	1	442	0.0023	-1406	c.201 others(16): Show c.201+1942_202-680del		RAB19	ENSG00000146955.11	transcript	ENST00000537763.6	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr7	TogoVar
DHRSX_chrX_2214506_2505976	2280759	AGAGGGAG others(1398): Show AGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAG AGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGA GAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAAC GGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGA AATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGA GGGCAAACGAGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGA GAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACG AGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGAT GGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAG GAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACGGGG AGAGAGAGGGAGGGCAAACGAGAGAGGGAGAGAGAAGGAAGAGGAGGAAA TGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGG GAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGA GAGAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAG GGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAG AGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGG AGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGG AGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATG GGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGA GGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGA GAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAG AGAGGGAGAGAGAAGGAGGAGAGGGAGGAAATAGGGGAAAGAGAGAGAAA GAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAG AGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGG AACGGGGAGAGAGAGGGAGGGCAAACGAGAGAGGGAGAGAGAAGGAGGAG GAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAG AGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGG GGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGG GCAAAC	A A	intron_variant intron_variant	MODIFIER	HG02293.hp2 homoSapiens_chm13v2.hp1 HG02293.hp2 homoSapiens_chm13v2.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0013 a0003c0003t0002g0014 a0003c0003t0002g0013 a0003c0003t0002g0014	2	50	0.0400	-1405	c.388 others(18): Show c.388+9338_388+10742del		DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6						chrX	TogoVar
NRXN3_chr14_78165373_79873291	79819756	TACAGGCA others(1398): Show TACAGGCATCAGCCACCGCACCCGGCCCTAAAAGTTCATCTTTAAGGACA TTTCCCACCTTTGTTTTAGATATGCCACTATCTCAGACATGAAACACAAT AACAAACTAAACCAGGGTCATCTCCACCCAGCTTGTACACTACATATTTG GGTAGGAGCTTAACGTCTTGCCCTTCGCTTTGCCAGTGTGTCTTCTGAGC TCCCCACCTCTGCTAGGTGTGGGCTGCATTCACCCCCAATTTTAGACCTC TTTGGCAGTAGCTTCCTTGATCTCCCGCCCACATACTGTGTCATATCCCA GTAATTCTTCCCCAAACCTTGGCTATGGGTTATTGAGCTGACAAATGTCT AAATGACTGAGATACGATTTCACAACCTGCTGAGAGCCTCTTCTTTCCCT GTACTCTTTGATTTGTAGCTTTGTAAGTTTTGTGAGGAAAGTGGGAAAAA CATTCTTGGTGACACAGGCAGTGAATGAGGAGGACACAATGGAGTGGGCA CCATATCTAGGACTCCTGCCTGCATTGCGAGCAAAAGCATGTATTTATAT CTTAGCCCTCTGAATGTTAGAGGTAGCAGATTATACAGTATGGTGCAGGA AGGAGCATCCTATGTCCTGAGGTGAATAACGTGTTCTACCACCTGGCAGC AGATTAGACCAGATCAGGCTATGAGAATACAGGTTCACAGCCAGATTTAG TACTACCAGCCAGATTTAGTACTACTGCAAAAATGGCTTTTCCTTAAGAA GTTTTTGTTTCTAACTTTTATTTTAGGTTTATGGGTACATGTGAAGGTTT GTTACCTATGTAAACATATCATGCGGTTTTGTTGTACATATCATTTGATC ATCTAGGTATTAAGCCCAGTATCAAAAAATTATCTTTTCTGCTCCCTCCA TCCTCTCACCCTCCCTGCTCAAGTAGACTCCATTGTCTGTCGTTTCCTTG TGTTCCTAAGTCATCATTTAGCTCCAACTTGTTGAGAACATGCAGTATAA GTTAATGCTTACTCTCTTTAACATCTTTCACATTAGAAATCTATGGAGAA GAAATATGAAAGACTCATATATAAACATGGGGCAAACCATGAAGCTAAAT CTTAATGTATCCCAAACCCCAGAGGGAGCATAAGGTTAACTTTGGGTGGC CAGGGTGCTTAGTGATAACATTATGAGCTTTCTACATTAGCAGGGCCCCC TGGTGTGGTTTTGTGCCTGGAGATGTAAGGTTCTGAACTACAAAGGAAGC AAACAAAATGAAGAGATGATGCAAGGAGGCAAAAAAGATGGAGGCATTAG GAAAGGCTTTGAGGGCAGGAGGCACGGGGTCATCTTCTAAAATAACCTAT TGGAATGCATGTTTTAATAAGCTTTGAAGATCAAAGAGATTAACAAGAAC AAGAGG	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0024 a0001c0003t0009g0024	1	24	0.0417	-1405	c.409 others(21): Show c.4093+14568_4093+15972del		NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	20/20					INFO_REALIGN_3_PRIME	chr14	TogoVar
ASMT_chrX_1610059_1648081	1640971	CTCCTGTG others(1397): Show CTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGC CTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCC CTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGG GACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGA GGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTC CTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTC TGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCAT CCTGATGATCCATTAGGATGTGGACACAGCCTCTGTGTGTGTGATAGGGA CCATGTCCCAGTGTCCTGTGAGGTCCACCTATCCTGATGGTCCATGAGGA TGTGGACACAGCCGCTCTGTGTGTGATGGGGACAGTGTCCCAGCTCTCCT GTGAGGTCCATCCATCCTGATGGTTCATGGGGACGTGAGCACAGCCTCTG TGTGTGTGTTGGGGACAGTGTCCCAGTTCTCCTGTGAGGTCCACCCATCC TGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGTGATGGGGACA GTGTCCCAGTGTCCTGTGAGGTCCACCCATCCTGGTGGTCCATGAGTACA TGGACACAGCCTCTCTGTGTGAGATGGGGACAGTGTCCCAGTTCTCCTGT GAGGTCCACCCATCCTGGTGGTCCATGAGTACATGGACACAGCCTCTCTG TGTGTGATAAGGACAGTGTTCCAGCTCTCCTGTGAGGTCCACCCATCTTG ATGGTTCATGAGGACTTGGGCATGGCCTCTATGTGTGTGATGGGGACAGT GTCCCAGTGTCCTGTGAGGTCCACCCATCCTGATGGTCCATGAGGATGTG GGCACAACCTCTTTGTGTGTGATGGGGACAGTGTCCCAGTGTCTGTGAGG TCCACCCATCCGATGGTTCATGAGGACGTGGGCACAGCCTCTGTGTGTAA TGGGGATAGCATCCCAGTGTCCTGTGAGGTCCATCCATCCTGATGGCCCA TGAGGATGTGGGCACAGCCTCTGTGTGTGTGTGTGTGATGGGGACGGTGT CCCAGTTCTCCTGTGAGGTCCACCCATCCTGATGGTCCATGAGGACATGG GCACAGCCTCTCTGTGTGTGATAAGGACAGTGTTCCAGCTCTCCTGTGAG GTCCACCCATCTTGATGGTTCATGAGGACTTGGGCACAGCCTCTGTGTGT GTGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATACATCCTGATGG TCCATGAGGACATGGGCACAACCTCTGTGTGTATAATGGGGACAGTGTCC CAGTG	C C	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01981.hp2 HG02004.hp1 others(3): Show HG01978.hp1 HG01981.hp2 HG02004.hp1 HG02148.hp1 HG02273.hp1 HG03491.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0002c0002t0001	a0001c0001t0001g0027 a0001c0001t0001g0037 a0001c0001t0002g0141 others(3): Show a0001c0001t0001g0027 a0001c0001t0001g0037 a0001c0001t0002g0141 a0001c0001t0002g0180 a0001c0001t0005g0165 a0002c0002t0001g0031	6	223	0.0269	-1404	c.911 others(16): Show c.911-1805_911-402del		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
RASA3_chr13_113972783_114137623	114083770	ACGGGGAA others(1397): Show ACGGGGAAGTGGTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGGGA AATCACGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCG GGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCT CGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCG TCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCC TTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGAC TCCCTTCCTCCTCGCGGGGAAATCACGGGGAAGTGCTGAGTCTGGAGTAT CGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGA GTATCGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGGTGAGTC TGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGCTG AGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAGT GCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGG AAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAATCCC GGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAA TCACGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGG GAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCG CGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTC CTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTT CGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTC CCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCG ACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGT ATCGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTG GAGTATCGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAG TCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGC TGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAA GTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGG GGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATC CCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGA AATCC	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01167.hp2 HG01175.hp2 others(6): Show HG00733.hp2 HG01167.hp2 HG01175.hp2 HG01433.hp1 HG02738.hp2 HG04115.hp1 NA18973.hp1 NA18973.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0001 a0001c0002t0002 a0001c0009t0008 a0001c0001t0001 a0001c0002t0002 a0001c0009t0008	a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0014 others(6): Show a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0054 a0001c0001t0001g0064 a0001c0002t0002g0004 a0001c0009t0008g0048	9	67	0.1343	-1404	c.56- others(16): Show c.56-11337_56-9934del		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23						chr13	TogoVar
SMOC2_chr6_168436184_168672992	168560941	TGGAGGAG others(1397): Show TGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCGTT CTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCG TTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTG CATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCAC TGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTC ACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTC TCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGC TCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAG GCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACG AGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACA CGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGA CACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGA GACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCT GAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCC CTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTG CCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCC TGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTT CATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATT TTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCA TTTTCCTGCCCTGAGACACAAGGCTCTCACTGCATTCTTGGAGGAGGTGT CATTTTCATACCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGT GTCATTTTCATACCCTGAGACACAAGGCTCTCACTGCATTCTTGGAGGAG GTGTCATTTTCCTGCCCTGAGACACAAGGCTCTCACTGCATTCTTGGAGG AGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGTGTTCTCGGA GGAGGTGTCATTTTCCTGCCCTGAGACACAAGGCTCTCACTGCATTCTTG GAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGTGTTCT CGGAGGAGGTGTCATTTTCCTGCCCTGAGACACAAGGCTCTCACTGCATT CTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTG TTCTC	T T	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	180	0.0056	-1404	c.637 others(19): Show c.637+11757_637+13160del		SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168561014	GCCCTGAG others(1397): Show GCCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTC CTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTT TCATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCAT TTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTC ATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTG TCATTTTCATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGG TGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGA GGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAG GAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGG AGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCGTTCTT GGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTC TTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCGT TCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGT GTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACT GCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCA CTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCT CACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCT CTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACAAGG CTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGA GGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACAC AAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGAC ACAAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAG ACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTG AGACACAAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCC TGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGC CCTGAGACACAAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCT GCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTC CTGCCCTGAGACACAAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTT TCATA	G G	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0038 a0001c0002t0002g0038	1	180	0.0056	-1404	c.637 others(19): Show c.637+11836_637+13239del		SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12					INFO_REALIGN_3_PRIME	chr6	TogoVar
SNTG2_chr2_945849_1372613	1106794	GAGTGGAC others(1397): Show GAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGT AAGAGTGGTCACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTGCTTG GTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTGCT TGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTC CTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGC TGCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGA GCTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGA GAGCTCCTTGATAATAATGGACACGTGCTGTCACTCGGGTGCAGGGTATG GAGAGCTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTA TGGAGAGCTCCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGG TATGGAGAGCTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAG GGTATGGAGAGCTGCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGC AGGGTATGGAGAGCTCCTTGGTAATAGTGGACACGTGCTGTCACTCGGGT GCAGGGTATGGAGAGCTCCTTGGTAAGAGTGGTCACGTGCTGTCACTCGG GTGCAGGGTATGGAGAGCTGCTTGGTAATAGTGGACACGTGCTGTCACTC GGGTGCAGGGTATGGAGAGCTGCTTGGTAATAGTGGACACGTGCTGTCAC TCGGGTGCAGGGTATGGAGAGCTCCTTGGTAAGAGTGGACACGTGCTGTC ACTCGGGTGCAGGGTATGGAGAGCTGCTTGGTAATAGTGGACACGTGCTG TCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGTAAGAGTGGACACGTGC TGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGTAATAGTGGACACGT GCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGTAAGAGTGGACAC GTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTGCTTGGTAATAGTGGAC ACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGTAAGAGTGG ACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGTAATAGT GGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGTAAGA GTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGTAA TAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGT AAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTGCTTG GTAAT	G G	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01975.hp1 HG02976.hp2 others(3): Show HG01496.hp2 HG01975.hp1 HG02976.hp2 HG03654.hp2 NA20805.hp2 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0002c0003 a0003c0008 others(1): Show a0001c0001 a0002c0003 a0003c0008 a0006c0009	a0001c0001t0001 a0002c0003t0001 a0003c0008t0001 others(1): Show a0001c0001t0001 a0002c0003t0001 a0003c0008t0001 a0006c0009t0001	a0001c0001t0001g0056 a0001c0001t0001g0063 a0001c0001t0001g0067 others(3): Show a0001c0001t0001g0056 a0001c0001t0001g0063 a0001c0001t0001g0067 a0002c0003t0001g0030 a0003c0008t0001g0044 a0006c0009t0001g0050	6	190	0.0316	-1404	c.325 others(17): Show c.325+8442_325+9845del		SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
EVI5_chr1_92503696_92790108	92719086	ATGGATTC others(1396): Show ATGGATTCACAGCCGAATTCTACCAGAGGTACAAAGAGGAGATGGTACCA TTTCTTCTGAAAATATTCCAATCAATAGAAAAAGAGGGAATCCTCCCTAA CTCATTTTCTGAGGCCAGCATCATCCTGATACCAAAGGTTGGCAGAGACA CGATGAAAAAAAGAGAATTTTAGACCAACATCCCTCATGAACATCAATGT GAAAATCCTCAATAAAATACTGGCAAACCGAATCCAGCAGCACATCAAAA AGCTTATCCACTATGACAAAGTGGCCTTCATCCCTGGGATGCAAGGCTGG TTCAACATACACAAATCAATAAACGTAATCCATCACATAAACAGAACCAA CGACAAAAACCACATGATTATCTCAATAGATGCAGAAAAGGTCTTCGACA AAATTCAACAGTCCTTCATGCTAAAAGCTCTCAATAAACTAGGTATTGAT GGAACATATCTCAAAATAATAAGAGCTATTTATGACAAACCCACAGCCAA TATCATACTGAATGGGCAAAAACTGGAAGCATTCCCTTTGAAAACCGGCA CAAGACAGGGATGCCCTCTCTCTCCACTCCTATTCAACATACTGTTGGAA GTTCTCGCCAGGGTAATCAGGCAAGAGAAAGAAATAAAGGATATTCAATT AGGAAAAGAGGAAGTCAAATTGCTCCTGTTTGCAGATGACGTGATTGTAT ATTTGTAAAACCCCATTGTCTCAGCCCAAAATCTCCTTAAGCTGATAAGC AACTTCATACAAAATCAATGTGCAAAAATCACAAGCATTCTTATAAACCA ATAACAGACAGCCAAATTATGAGCAAACTCCCATTCACAATTGCTACAAA TAGAATAAAACACCTAGGAATCCAATTTACAAGGGATGTGAAGGACCTCT TCAAGGAGAACTACAAACCACTGCTCAACAAAATAAAAGAGGACACAAAC AAATGGAAGAACATTCCATGCTCATGAATAGGAAGAATCAATACTGTGAA AATGGCCATACTGCCCAAAGTAATTTATAGATTCAATGCTATCCCCATGA AGCTACAATTGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTC ATATGGAACCAAAAAAGAGCCCACATTGCCGAAACAATCCTAAGCAAAAA GAACAAAGCTGGAAGCATCATGCCACCTGACTTCAAACTACACTACAAGG CTACAGTAACCAAAACAGCATGGTACTGGTATCAAAACAGAGATATAGAC CAATAGAACAGAACAGAGGCCTCAGAAATAACACCGCACATCTACAACCA TCTGCTCTTTGACAAACCTGACAAAAACAAAAAATGGGGAAAGGATTCCC TATTTAATAAATGATGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTG AAAC	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02486.hp1 HG02145.hp2 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0053 a0001c0001t0023g0054 a0001c0001t0023g0053 a0001c0001t0023g0054	2	168	0.0119	-1403	c.150 others(19): Show c.150-15745_150-14343del		EVI5	ENSG00000067208.17	transcript	ENST00000684568.2	protein_coding	2/19						chr1	TogoVar
NOC4L_chr12_132139457_132157468	132148890	ACCTCGGT others(1396): Show ACCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCA CTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCT CGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGA GTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCG CCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCT CGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCA CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGT GAGTGCGGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGC GGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCT CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCATACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCGCTCACACCCCTAATCCCCTCGGTGAG TGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGC CGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTC GCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCAC ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTA ATCC	A A	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19083.hp2 NA19010.hp1 NA19083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0093 a0002c0002t0001g0097 a0002c0002t0001g0093 a0002c0002t0001g0097	2	294	0.0068	-1403	c.901 others(14): Show c.901+62_902-622del		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149045	ACTCACAC others(1396): Show ACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCT ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTC ACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCC TAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCC CCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGG TGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTG CGGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCG CCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGC TCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACAC CACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACC CCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCATACCACACCCCTAAT CCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTC GGTGAGTGCCGCCGCCTCGCTCACACCCCTAATCCCCTCGGTGAGTGCCG CCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCT CGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCA CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGT GAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCG	A A	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0242 a0002c0002t0001g0242	1	294	0.0034	-1403	c.901 others(15): Show c.901+194_902-490del		NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr12	TogoVar
ADARB2_chr10_1172313_1742525	1188991	CTCCAGGA others(1394): Show CTCCAGGAGGGCCATCTCTTCCTCACCGACATGGAAGGGCCATGGCCTCG TGCGCTTTCACTCTCTTTCCATTTCCCCGCAGCCTGAGTCACCCTCAAGG AGGTAACTCCCTGTCCTGGGATGTCTCCTGAGGACACTCCAGCATTGGGA CATCAGGTCACTCCAGGCTCTTCCTTTCTTTGTTTTATTTATTTTGGCCT GGGGGAGCCACTTGGTTTCTCAGGAGCCTTCTGCTCATGTGTGAATGATC TCTCATGGTGCACTGATTTTATAATTTTCCACCAGTTTCCCAGGTGCCGT ACAAAGACATGCAGAGCCTTCTGGGAGCTGGTCCAGTTGCTTGCTCATGG TGTTCCTGTCGAGCACCTTCCTGGCCGTGGAGAAGTGGGTTTCGAAAGGG TTGAAGGTGTTAGGGCTAAACTTTAACTCAGCTGGATTGCATTGCTAGCG GTAGTTGTGGATAGAGCCAGACAAGGTGAAGACACATGTGCTCAGGCCTA GAAATGAAAGCCTGGCTTGTGTTTAATTTTAACTCCTGTGGCTGGAAATG TGAAAATGCATTAACTCCTGGCTCATTCCTCCTGAAGTGGGCATCGGCTG ATTGAAGACGGAACTCGAGTCCCAAGGACAGAGGGTGTCTGCAGCTGCAG GGGCACCTACTCAGGCCTGTCCCACCCTGTTCCTCAAGATAACACAGCAG CACATACCTGGTGACCCAGTCCACCCAGAACACATGGCCCTACCTCCTTC CCCAGAACACGTGGCGCTACCTCCTTCCCCAGAACACGTGGCGCTACCTC CTTCCCCAGAACACGTGGCGCTACCTCCTTCCCCAGAACACGTGGCGCTA CCTCCTTCCCCAGAACACGTGGCGCTACCTCCTTCCCCAGAACACGTGGC GCTACCTCCTTCCCCAGAACACGTGGCGCTACCTCCTTCCCCCGAACACG TGGCGCTACCTCCTTCCCCAGTTCACAGCACAAAATGTCTCCTGGAGGGG ATTCAGGGAATCTCCAGCAGTGAAAGGTGCCAACAGACCTGTGGCGATTG AGGGACAGAGCCTGTGTCGTCTGAACTCAGAAAACGTGAGCATCAGGCCA GCTGAGCTCCAAGGAGAAATGCGTCCTCCTGAGAAATTGCACGCAGGAGT CTGAACTCAGAAAACATGAGCATCAGCAGCTGAGCTCCGAGGAGAAACGC GTCCTCCCAAGAAATTGCACACAGATACCCCAGTGCTGTGGACAAACACG TACACGTGCTTGCACAGGGGTCCCACGCTTCTCACTCTGCAGGCCGCCCT GTGAGGCCAAAATTCCTGTGAACCTCTGGCATCCAGAAGCTACAACAAAT CCAAATTAACCCTGTGGAACACTTCTGTGATGCACCTCCTGCCTTCGGTG TA	C C	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0053 a0002c0002t0053	a0002c0002t0053g0106 a0002c0002t0053g0106	1	106	0.0094	-1401	c.186 others(19): Show c.1865-5353_1865-3953del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	8/9						chr10	TogoVar
BBOF1_chr14_74014349_74071092	74051137	GGGAGGCT others(1394): Show GGGAGGCTGAGGCAGGAGAATCATTTGAATCCAGGAGATGGAGGTTTCAA TGAGCCAAGATCACGCCATTGCACTCCAGCCTGGGTGACAAGAGCAAAAC ACTGTCTCAAAAAAACAAAACAAAAAACAAAAATTAGCTGGGCGTGGTGG CGGGGGTCTGTAGTCCCAGCTACTCAGTAGGCACAAGAATCGCTTGAACC CAGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCATCACTGCACTCCAGCC TGGGCAACAGAGTGAGACCCTGTTTCAAAAAAACAAACAAACAAAAAACC AAAACAATTATTTGTAACAATTCTTTGTTATAGAGAACTGTCCCATGGAT TGGAGGACAATCAGTAGTGCCCCCAGCATTGTATTAACCAAAAGTCCCCC AAAATTTTCCAAAATTTTAGAGATCTGCTGCCACTATGATAAAGGTAACA GAATGTTTGAGACAGTTGCAGACTATATATTACATAATGATTAACTTTGT TTCCTATTAGCATTTTTGTTTCTTAGAGCAGTCTCCTCCCTATAAACCAT GGATTAAATTATAGTCCATTTTGAGGGTTATTCTGAAAGAAAATTATTTT ATATTCCAATGCAATTAGATTCTTCAAAGGCCCTAACTCAAGAAACTTAA AAGGACTGCAGCCTGGAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGC CTCACAAAGCGCTGGGATTACAGGCACGAGCCACCATGCCCAGCCTAACA TCTTCCAAATGTGTTTTTTGCTTTAAATTATTTTTAAAGGACTAATTTTA TAGGTTGTTTTGAATTATATGGCTGTTGAGAAGGTTGGACATGCTCAGTA GTCTCTGATAGATAAGATTCTTCTTCAAAATGCCTAAACTATAATTTACT TCTTGTCATATTCAGAAATCTGTAATACTACTACTGTTACCAAGAGATTT GCTGTAATTTCTCTTTTTTATTTAATACATCAAATAAGTTGAGTCCCTAC CATATATAAGGCAGTTTTCTTTATATCCTTTTGTTTACGAAATAGTAAGT GTTATACATTTTCAGAGGAAGTTAAATGATTGTCTACATTGTTACTGCAG TAACTGGACTCTTCCTATTCTGTGTTCTATGTGACATTTTTGCTACTGAC CACCTTAACACTTTAGCCTTAGTGTCCTATTGCCTCTATCAGCAGGGCAG AAATGGTGGTTAACATATTACATCATCGGGCTGGGCGCAGTGGCTCACGC CTGTAATCCCAGCACTTTGGGAGGTTGAGACAGGTGGATCAAGAGGTCAG GAGTTCAAGACCAGCCTGGCCAAGTTGCTGAAACCCCGTCTCTACTAAAA ATACAAAAATTAGCCAGGCATGATGGCACACACCTGTAATCCCAGCTACT CA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG06807.hp2 NA19043.hp2 HG02145.hp2 HG06807.hp2 NA19043.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0003 a0004c0007t0003	a0004c0007t0003g0361 a0004c0007t0003g0364 a0004c0007t0003g0365 a0004c0007t0003g0361 a0004c0007t0003g0364 a0004c0007t0003g0365	3	386	0.0078	-1401	c.128 others(18): Show c.1286+965_1286+2365del		BBOF1	ENSG00000119636.16	transcript	ENST00000394009.5	protein_coding	8/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
CALD1_chr7_134774634_134975729	134857231	CGATCTCG others(1394): Show CGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCTCCGAGTAGCTGGGACTACAGATGCCCGCCACCACGCCC GGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTTGA TCTCCCGGCCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAAGCGTGAGCCACCGCGCCCGGCCAGTTTTGTGCTATTCTTAAGCAGG CCCCAACTGTGAGCCATTCCCTACCTGAGGAAAAGTCCAGGTATCCCCAA ACTAATAAATGAGTGAAACTGCTATCTAAATGACTCATTACTATCTAAAT TACTATCTAAATATAAAGAAAGAGGAAGCAATCTAAGTACTTTTCAACTT ATTATTTATCTGTAAATATATATGCTTAAATTATATGTCTGTTACATCCA AGGGACATAGCAGATAACATCCTTTAGTTGGGTTTCAAACCTTTCCACCT TGGATTATAAACTTCTAGAAGGTAGTTTTTAACCTGCTTTGCAGTTCCAG AATACAGTAAACACACTTGATGATCATGATGAATAGAAGTCAAATAATTC ACTAGAGAATAATTAGTCCCTGATCAGTAACAGCTTGTCCTTCACATACA AAAATACTGCTATTAACAAAGCACCTCTAGAACACACCTTTGAATTGTTT TCAGCACTATAAATGGATTTGCATCCTGCCATCTAAGCTATCCTACTTTA TATTAGCAAGATAGCTGGCCAAGGCTCTGTATCACTAAACTGGAAGTGTT AGTTGAACAAACCAGTCACAAAAAGCAGGCACATGAGTTGCTGACTTTTT TTTTTTTTTAGCTGAGTAGTTCAGCAAGTCCAGAAGGCCATGCACAAGTT AAACTACTTTTATGTAAAATATGGTGATCTCTGCAGCATGTTTACAACTG GGAAAGGCCCATGGCTTCTGAACTTTCATTCCATGTGAACCACTCTTGGG CCTTGTTACTTAACTTGAAGTGTGATCTTTCTTCAGCCAGTGTCTCAGCT TCTTTTGTATTTGCCAAGCATTTCACTTTCTCAGTTGCAAGTGCCCAGTC ACAGCTAGATTGCCCCCATCCAAAAAGCCTCCATAGGAAAATGGAGAGAG TACCAATGAGGGAATTATGAGAGCACAGCCATGCTTTGAGATGCTGACCC ATACAACACCCCACAACTTACCACATCTTTTCTATGAGATTGTAAGGTCT TTGAAGACAGAAACCATATCTAACATACCTTCATGTCTCTGAAGTGCATA GCATTACTTCACTCAGTACAATCATTTCATATTAGGAGTTGAAAGATCTC TTTTTTTTTTGAGACAGTCTTGTTATGTCACCAGGCTGGAGTGCGGTGGC AT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0089 a0001c0001t0005g0089	1	262	0.0038	-1401	c.-41 others(18): Show c.-41-10443_-41-9043del		CALD1	ENSG00000122786.20	transcript	ENST00000361675.7	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr7	TogoVar
D2HGDH_chr2_241729630_241773811	241765457	TGGGGAGA others(1394): Show TGGGGAGATGGGAGCCCCGGGCTGAGGGATTAGGAAGAGGGGGGAGAAGT TGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGT TGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGT TGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGT TGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGT TGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGT TGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGG TGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGT TGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGT TGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGT TGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGT TGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACT TGGGGAGATGGGAGCCCCGGGCTGAGTGAGTAGGAAGAGGGGGGAGAACT TGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGT TGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGT TGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGT TGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGT TGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGG TGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACT TGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACT TGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGT TGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGT TGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGT TGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGT TGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGT TGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACT TGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACT TGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACT TG	T T	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0113	1	412	0.0024	-1401	c.130 others(18): Show c.1307-2249_1307-849del		D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr2	TogoVar
FNBP4_chr11_47711494_47772341	47740285	TGCGCCTG others(1394): Show TGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGATAGAACTGCTTGTAC CCGGGAGGTGGAAGTTGCAGTGAGCCACGATCGTGACACTGCAGTCCAGC CTGGGTGACAGAGTGAGACCCCGTCTCAAAAAAAAAGTAAATATAACATG GCTTATTAAAATATCAAAATATTAACATGTTAATATTGAGTCTTCCCAGG TTTCTCTGCCATCACAGCCACACCAGATATGACCTCTACCCTCATGGTGC CAGTCATTATGTTCCTTTAGCTTCCTCATGGACAGATCTTTAAGCACAAC ATACATATGTATTTGTTTTTTTTTTCCCCGAGACAGTCTCACTCTGTCGC TTAGGCTGAAGTGCAGTGGCACAAACTCGGCTCACTCCAACTTCCGCCTC CTGGGTTCAGGTGATTTCCTGCCTCAGTCTCCCAAGTAGCTGGGATTACA GGCGAGCACCACCAGGTGCAGATAATTTTGTATTTTTAGTAGAGACGGGG TTTCACCATGTTGGCCAAGATGGTCTCGATCTCCTGACCTCGTGATCCAC CTGCCACGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACC CAGCCACATTTTTTTTGTGTGTGTGATGGAGTCTCATTCTATTGCCCAGG CTGGAGTGCAGTGGTGCCATCTCAGCTCACCACAACCTCCACCTCCCCAG TTCAAGAGATTCTCCTACCTCAGTCTCCCAAGTAGCCGCCACGCCCAGCC TATTTTGCAGTTTTGGTAGAGACGGGGTCTCACCATGTTGGCCAGGCTGG TCTCGAACTCCTGACCTCAGGTGATCCACCCACCATGGCCTCCCAAAGTG CTGGGATTACAGGCGTGAGCCACCGTGCGCCAGTCTGTTTTTCTTTTTCT TTTGAGGCAGGGTCTTGCTCTGTCACTCAGGATGGACTGTAGTGGTGTAA TCATAGCTCACTGCAGCCTCGAACTCCTGGGCTCAAGCTATCTTCCTCCC TCAACATCCTGAGTAGCTGGGATTATATCCGTGTGCCACCACACTGGCTA ATTTTTAAAAAACATTTTAGAGACAGTGTCTTGCTATATTGTCCAGGCTG GTCTTGACTCCTGGCCTCAAATGATCTTTCCGCTTTGCCCTCCGAAAGTA AATATTATTGTTTCTATGATTAAGCCACATTGATGCACATAACTATGGTA TGTTCACTTTGTCACTGCTGCTTAGTATTCCTTTCTAAGAATATACCACA GGGCTGGTCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTG AGGCGGGTGGATCACAAGGTCAGGAGTTCAAGAACAGCCTGGCCAAGATG GTGAAACCCCATCTCTACTAAAAATACAAAAATTAGTCAGGCGCAGTGGC AG	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02559.hp2 HG03579.hp1 others(2): Show HG02257.hp1 HG02559.hp2 HG03579.hp1 NA18522.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0067 a0001c0001t0001g0219 others(2): Show a0001c0001t0001g0036 a0001c0001t0001g0067 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221	5	350	0.0143	-1401	c.145 others(19): Show c.1456+2267_1457-3546del		FNBP4	ENSG00000109920.13	transcript	ENST00000263773.10	protein_coding	8/16						chr11	TogoVar
HIF3A_chr19_46292042_46348433	46314067	TTGGGCTG others(1394): Show TTGGGCTGTTTCCAAGTTTGGGTGATTACAAAAAAACAGCTACTGTAAAC ATTCTCATACAAGATTTTATGAGATCACATGTTTTCATTTCTCTTGGGTA AACAGCTAGGATTGGAATGGATGGGTTATATAGTAAGTGTATATTTAATC TAAGAAACTGCCATGGCTGGGCACAGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAAGCCAAGGAAGGAGGATGACTAGAGCCTCTGAGGTGAAGACC AGCCTGGGCAAAGTGGTTAAGACTCAACCGCAAAAAAAGAAAAACAGAAA ACCTGAAAACAAACCAAAAAAAAAAAACAAACACAAAAATATATATGGTT TTCATGCAGTAAATTCTGTTTATGGTACACAGTTCTGTGAATTTTGACAC ATGCATGCAATTGTGTAACCACTATCACAATCCAGCTATTGACCAATTAG TGTGGTTACACAATTACCACAATTTATTTATTTTTATTTTTATTTATTTA TTTTTTTTGAGACAGAGTTTTGCCCTTGTCACTCAGGCTGGAGTGCACTG GCACGATCTCGGCTCACTTCAACTTCCGCCTCCCGGGTTCAAGCAATTCT TCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGCTGGGATTACACCAAG CCCAGCTAATTTTTGTATTTTTAGTAGAGTCGGGGTTTCACCATGTTGGC CAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTC CCAAAGTGCTGGGATTATAGGCATGAGCCACCACACCCGGCCATTACCAC GATTTTTTACACAAAAATATTCTCTTGTAGTAAACCCCTCCCACACTCCC ATGTCCCTGGCAACCACTGTCCTCAGACCCCAGAGTTTTGCTTTTTCCAG AGGGTCACATACAGGGAATCCTACAGTATGTAGCCTTTTGGGCCTGGCTC TTACTTAGCTTGATATATTTAAAATTCCTCCATGTTGTGGTTTTTCTTTC TTGGTTTTTTTGTTTTGTTTTTGAGACAGAGTCTCATTCTGTTGCCCAGG AGTGCACTGGTGCAATCTCGGCTCACTACAGCCTCCGCCTCTGAGGTTCA AGTGATTCTCCTGCCTCAGCCTCCTGAGTGGCTGGGATTATAGGCGCGCA CCAACACGCCCAGCTAATTTTTATATTTTTAATAGAGAAGGAGTTTCACC AGATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCTCCTGCC TCAGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACCGCGCCCAGCC CATGTTGTGGTTTATATCAGTAGTTCCTTTGTAAATAGTGAACAGTATTC CATGGTATGAATAGAGCACAGTTTTTTTATCCATTCACCAGTTGGAAGAC GC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG00558.hp2 others(104): Show HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG01069.hp2 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01175.hp1 HG01192.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01928.hp2 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02056.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02132.hp2 HG02293.hp2 HG02486.hp2 HG02523.hp2 HG02615.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02886.hp1 HG03490.hp1 HG03579.hp1 HG03669.hp1 HG03704.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 NA18612.hp1 NA18747.hp1 NA18940.hp1 NA18942.hp2 NA18944.hp1 NA18945.hp2 NA18948.hp2 NA18949.hp1 NA18952.hp1 NA18955.hp2 NA18957.hp1 NA18959.hp1 NA18962.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18968.hp2 NA18969.hp2 NA18971.hp1 NA18977.hp1 NA18977.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18992.hp2 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp2 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp2 NA19005.hp1 NA19009.hp1 NA19010.hp1 NA19054.hp2 NA19055.hp2 NA19057.hp1 NA19063.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19084.hp2 NA19085.hp1 NA19091.hp1 NA19091.hp2	a0001 a0002 a0009 others(1): Show a0001 a0002 a0009 a0014	a0001c0001 a0002c0002 a0002c0004 others(4): Show a0001c0001 a0002c0002 a0002c0004 a0002c0007 a0002c0026 a0009c0029 a0014c0030	a0001c0001t0008 a0001c0001t0013 a0001c0001t0027 others(22): Show a0001c0001t0008 a0001c0001t0013 a0001c0001t0027 a0001c0001t0035 a0001c0001t0045 a0001c0001t0052 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0010 a0002c0002t0013 a0002c0002t0015 a0002c0002t0018 a0002c0002t0020 a0002c0002t0032 a0002c0002t0033 a0002c0002t0036 a0002c0004t0021 a0002c0007t0002 a0002c0007t0013 a0002c0007t0034 a0002c0026t0006 a0009c0029t0010 a0014c0030t0010	a0001c0001t0008g0158 a0001c0001t0008g0159 a0001c0001t0013g0005 others(103): Show a0001c0001t0008g0158 a0001c0001t0008g0159 a0001c0001t0013g0005 a0001c0001t0027g0369 a0001c0001t0035g0005 a0001c0001t0045g0315 a0001c0001t0052g0161 a0002c0002t0001g0089 a0002c0002t0001g0109 a0002c0002t0001g0114 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0125 a0002c0002t0001g0133 a0002c0002t0002g0016 a0002c0002t0002g0017 a0002c0002t0002g0019 a0002c0002t0002g0022 a0002c0002t0002g0023 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0045 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0115 a0002c0002t0002g0116 a0002c0002t0002g0119 a0002c0002t0002g0121 a0002c0002t0002g0122 a0002c0002t0002g0123 a0002c0002t0002g0124 a0002c0002t0002g0126 a0002c0002t0002g0128 a0002c0002t0002g0131 a0002c0002t0002g0132 a0002c0002t0002g0135 a0002c0002t0002g0136 a0002c0002t0002g0137 a0002c0002t0002g0138 a0002c0002t0002g0139 a0002c0002t0002g0140 a0002c0002t0002g0142 a0002c0002t0002g0147 a0002c0002t0002g0148 a0002c0002t0002g0149 a0002c0002t0002g0239 a0002c0002t0002g0310 a0002c0002t0002g0314 a0002c0002t0002g0320 a0002c0002t0002g0328 a0002c0002t0002g0350 a0002c0002t0003g0044 a0002c0002t0003g0049 a0002c0002t0003g0050 a0002c0002t0003g0127 a0002c0002t0003g0134 a0002c0002t0003g0146 a0002c0002t0003g0236 a0002c0002t0003g0372 a0002c0002t0004g0046 a0002c0002t0010g0004 a0002c0002t0010g0311 a0002c0002t0013g0113 a0002c0002t0015g0120 a0002c0002t0018g0108 a0002c0002t0020g0105 a0002c0002t0032g0100 a0002c0002t0033g0352 a0002c0002t0036g0011 a0002c0004t0021g0183 a0002c0004t0021g0187 a0002c0007t0002g0009 a0002c0007t0002g0010 a0002c0007t0002g0012 a0002c0007t0002g0013 a0002c0007t0002g0014 a0002c0007t0002g0015 a0002c0007t0002g0065 a0002c0007t0002g0076 a0002c0007t0002g0077 a0002c0007t0002g0079 a0002c0007t0002g0082 a0002c0007t0002g0085 a0002c0007t0002g0112 a0002c0007t0002g0145 a0002c0007t0013g0078 a0002c0007t0034g0080 a0002c0026t0006g0246 a0009c0029t0010g0099 a0014c0030t0010g0141	107	418	0.2560	-1401	c.102 others(19): Show c.1025+1442_1025+2842del		HIF3A	ENSG00000124440.16	transcript	ENST00000377670.9	protein_coding	8/14					INFO_REALIGN_3_PRIME	chr19	TogoVar
IL3RA_chrX_1331785_1387689	1371818	CCTCCAGC others(1394): Show CCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCC GCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGACTAAGACATC TCATAAGAAGAGGAGATGAGGACACAGACACACACAGAGGGACGACCCTG TGGGACACAGGGAGAAGACGGGGTCTCCAAGCCCAGGAGAGGGGCCTCAG GAGGAACCAGCCCTGCCCACACCTGGATCTCAGAACTCCAGCCTCCAGGG CTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTAT TCTGTGACAGCAGCCTGAGATGGACTAAGACATCTCATAAGAAGAGGAGA TGAGGACACAGACACACACAGAGGGACGACCCTGTGAGGACACAGGGAGA AGACGGCGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCCCTG CCCACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAA TGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCC TGAGATGGACTAAGCCATCTCATAAGAAGAGACGAGGACACAGACACACA CAGAGGGACGACCCTGTGAGGGCACAGGGAGAAGACGGCGTCTCCAAGCC CAGGAGAGGGGCCTCAGGAGGAACCAGCCCTGCCCACACCTGGATCTCAG ACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGC CGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGACTAAGCCAT CTCATAAGAAGAGACGAGGACACAGACACACACAGAGGGACGACCCTGTG AGGGCACAGGGAGAAGACGGCGTCTCCAAGCCCAGGAGAGGGGCCTCAGG AGGAACCAGCCCTGCCCACACCTGGATCTCAGAACTCCAGCCTCCAGGGC TGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATT CTGTGACAGCAGCCTGAGATGGACTAAGACATCTCATAAGAAGAGGACAT GAGGACACAGACACACACAGAGGGACGACCCTGTGGGACACAGGGAGAAG ACGGGGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCCCTGCC CACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATG TGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTG AGATGGACTAAGACATCTCATAAGAAGAGGAGATGAGGACACAGACACAC ACAGAGGGACGACCCTGTGGGACACAGGGAGAAGACGGGGTCTCCAAGCC CAGGAGAGGGGCCTCAGGAGGAACCAGCCCTGCCCACACCTGGATCTCAG AA	C C	intron_variant intron_variant	MODIFIER	HG03927.hp1 NA18943.hp1 HG03927.hp1 NA18943.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0013c0016 a0001c0001 a0013c0016	a0001c0001t0001 a0013c0016t0004 a0001c0001t0001 a0013c0016t0004	a0001c0001t0001g0010 a0013c0016t0004g0054 a0001c0001t0001g0010 a0013c0016t0004g0054	2	115	0.0174	-1401	c.874 others(17): Show c.874+6680_875-5327del		IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1373093	AGAGGAGA others(1394): Show AGAGGAGATGAGGACACAGACACACACAGAGGGACGACCCTGTGGGACAC AGGGAGAAGACGGGGTCTCCAAGCCCAGGAGAGGGGCCTCAGGAGGAACC AGCCCTGCCCACACCTGGATCTCAGAACTCCAGCCTCCAGGGCTGTGGGA GAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGAC AGCAGCCTGAGATGGACTAAGACATCTCATAAGAAGAGGACATGAGGACA CAGACACACACAGAGGGACGACCCTGTGGGACACAGAAGACGGGGTCTCC AAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCCCTGCCCACACCTGGAT CTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTC TAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGACTAA GACATCTCATAAGAAGAGGACATGAGGACACAGACACACACAGAGGGACG ACCCTGTGAGGGCACAGGGAGAAGACGGCGTCTCCAAGCCCAGGAGAGAG GCCTCAGGAGGAACCAGCCTTGCCCACACCTGGATCTCAGACCTCCAGCC TCCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCT CTGGTATTCTGTGACAGCAGCCTGAGATGGACTAAGACACCTCATAAGAA GAGGAGATGAGGACACAGACACACACGGAGGAACAACCCTGTGAGGACAC AGGGAGAAGACGGCATCTCCAAGCCCAGGAGAGAGGCCTCAGGAGGAACC AGCCCTGCCCACACCTGGATCTCAGACCTCCAGCCTCCAGGGCTGTGGGA GAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTCTGGTATTCTGTGAC AGCAGCCTGAAACGGACTAAGACATCCCATAAAAAGGAGATGAGGACACA GACACACACGGAGGGACGACCCTGTGGGACACAGGGAGAAGACGGCGTCT CCAAGCCCAGGAGAGGGGCCTCAGGAGGAACCAGCACTGCCCACACCTGG ATCTCAGACCTCCAGCCTCCAGGGCTGTGGGAGAATCAATGTGTTTTGTT TCTAAGCCGCCCAGCCTCTGGTATTCTGTGACAGCAGCCTGAGATGGACT AAGCCATCTCATAAGAAGAGACGAGGACACAGACACACACAGAGGGATGA CCCTGTGAGGGCACAGGGAGAAGACGGCGTCTCCAAGCCCAGGAGAGGGG CCTCAGGAGGAACCAGCACTGCCCACACCTGGATCTCAGACCTCCAGCCT CCAGGGCTGTGGGAGAATCAATGTGTTTTGTTTCTAAGCCGCCCAGCCTC TGGTATTCTGTGACAGCAGCCTGAGATGGACTAAGACATCTCATAAGAAG AG	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0080 a0001c0001t0006g0080	1	115	0.0087	-1401	c.875 others(17): Show c.875-5562_875-4162del		IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chrX	TogoVar
LINGO2_chr9_27932617_29218601	28846388	TTTTGCCA others(1394): Show TTTTGCCATAAAACTTTCTCTTCTCTAGAACAACCACTCTTAAGATTCCC GATTTATTGCAGTTTCTGAGAATTTCCCCTTCCTGAAAGAAAATAAAATA TTAGATGGAAGTGGGTGTTAAATAAAAAATGACTAACTCACCTACCAGAT AACACTGCAGCTAAAGACAAAGGGACAAATAAGTAGACCTTGGTAACTGC ATCCCTGATCATAGTAACTATCAAGAATGTCACTGGATTTGTTTCCACCT TTGTTCTTATTTCCTTTTCTGTTCCAGAATTTGTGCAGCTCCTGACCCAA CAGTTCTAATTACCATCTCTGGGCCCAATCTTCTTCCCTACACTGCATTT CACTTCCCTGTTTCTATACTATCAATGTGAAGTGCATTAGTCAGTTTTTG TTAGACCATGCTACAGTAACAATGAAAATCATTCTCAATGGCTAACAAAA AGCAAGATGGTTTCCCACTCACATTTACATATTCATTGTTGGTTAGCAGT GTTCTGCTCCTCCTACAGTCCAGAATCAAGAGTGAAGGAAAAAAAAAAAG TCCCCATCTTATGCACCACTGTTCCCATGGCAGAGGGAAAAGAACAAGGC TATACCCAGATGATGGCTCTCAAAGCTTATTCCTACAAGTGGCAATATCA GGCCACATATATTTCAGTAGCCCCAACAAGCTACATGGCTAAAGTGAATG CTGATGAGATGGGGAACTATAATTCTCTCAATCAGAGGGGTAGATGGCTG TTGAGCAATGATGCAAATTACTACAGACTTGCCCATTATGCTCAACTCTC TGACCCATTTTTGGCCCCTAAGACTCCAATCACAGGCCTACAGGCCTTGG TAGGCTAATAAGGAAACAGATATCTTTATTATCAATATTATAACAGCACA ATTTAAGAATAAAAACCTGAAGTTCATGCATCCCTCTCTGCCATAGAAAT ATGCCTTCTTTGATCCATTTTTTTTCAATTCAGTCAGACTTAATATGTCA GATTTTTTACAGGAATCACAGGGTTTAATTTATGGCACGTCATTTCATTT AAGCTGCACATGAGACTCATGGGCAGTTATGTCAGTTCTCATCTGTCTGT TATGATCATGTCTTTTCTTCCTTCACATGCCTTTCATCCCCATGGAGCAT ATCCAAGTCCACAGATCCCTTTGAACTGATTTTCTGCTTTGGAAGCAACT CCCAAGAGTCACATGTCAAGACTAGAAAATTAAATTAAATTAAAATGAGT CCATTGCACATTATTCCTTATCCTTTCAACTTCAAATCTAGCAACTGAGC ATCTACATATTGACACACTGTTATTTCCCTAATATATAGTGTCTGTGTAT ATATATATGTTATATATATACACACACATATGTGTATATATAGTATATAT AC	T T	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0055 a0001c0001t0025g0055	1	62	0.0161	-1401	c.-39 others(23): Show c.-395+100029_-395+101429del		LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	2/6						chr9	TogoVar
ASMT_chrX_1610059_1648081	1638675	GTCCATCC others(1393): Show GTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGCCTCTGTGTGT GTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGG TTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCC CAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGAC ACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATC CATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAG ATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATC CATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCA GTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACA GCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCA CCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGAT GGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGTTCAT GAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCT CTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGC CTCTGTGTGTGAGATAAGGACTGTGTCCCAGCTCTCCTGTGAGGTCCACC CATCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGG ACAGTGTCCCAGTGTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGG ATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCT GTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTG TGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCC TGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACA GTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATG TGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGT GAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTG TGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGA TGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATG TCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTG GACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAG A	G G	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0062 a0001c0003t0001g0062	1	223	0.0045	-1400	c.910 others(17): Show c.910+2148_911-2696del		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1638726	TGATGGGG others(1393): Show TGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGT TCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCC AGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACA CAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCC ATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGA TAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCC ATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAG TGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAG CCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCAC CCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATG GGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGTTCATG AGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTC TCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCC TCTGTGTGTGAGATAAGGACTGTGTCCCAGCTCTCCTGTGAGGTCCACCC ATCCTGATGCTTCACGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGA CAGTGTCCCAGTGTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGA TGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTG TGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGT GTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCT GATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAG TGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGT GGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTG AGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGT GTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGAT GGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGT CCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGG ACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGA TCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTG A	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01975.hp2 HG00099.hp1 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0128 a0001c0001t0001g0040 a0001c0001t0001g0128	2	223	0.0090	-1400	c.910 others(17): Show c.910+2170_911-2674del		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1639466	ATGATGGG others(1393): Show ATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCATCCTGATGG CACATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCC CAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCA CAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTC CACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTG ATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCAC ATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAG CTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACA GCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCAT CCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATA GGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCAT GAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTG TCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCC TCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCC ATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGG GACAGTGTCCCAGTGTCCTGTGAGGTCCATCCCTCCTGATGGTTCATGAG GATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTC CTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTC TGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTC CTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGAC CATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCTTCATGAGGA CGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTG AGATCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGT GTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGA TGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTG TCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGG GCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAG GTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGT G	A A	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02257.hp1 HG03486.hp1 others(4): Show HG01070.hp2 HG02257.hp1 HG03486.hp1 HG03516.hp1 HG03540.hp2 HG06807.hp1 NA19030.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0016 a0001c0001 a0002c0002 a0005c0016	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0005c0016t0001	a0001c0001t0001g0012 a0001c0001t0001g0014 a0002c0002t0001g0122 others(4): Show a0001c0001t0001g0012 a0001c0001t0001g0014 a0002c0002t0001g0122 a0002c0002t0001g0221 a0002c0002t0002g0136 a0002c0002t0002g0159 a0005c0016t0001g0045	7	223	0.0314	-1400	c.910 others(17): Show c.910+2938_911-1906del		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1639498	GTCCATCC others(1393): Show GTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGCCTCTGTGTGT GTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGG TTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCC CAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGAC ACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATC CATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAG ATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATC CATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCA GTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACA GCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCA CCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGAT GGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACAT GAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCT CTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGC CTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCC CTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGG GACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGA GGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTC CTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTC TGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCAT CCTGATGCTTCATGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACA GTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATG TGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGT GAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTG TGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGA TGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATG TCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTG GACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAG A	G G	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00741.hp2 HG01175.hp1 others(11): Show HG00597.hp2 HG00741.hp2 HG01175.hp1 HG02451.hp2 HG03195.hp1 HG03453.hp1 HG04184.hp2 NA18942.hp2 NA18963.hp1 NA18968.hp2 NA18969.hp1 NA18992.hp1 NA19064.hp2 NA20300.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0007c0012	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0007c0012t0001	a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0021 others(11): Show a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0081 a0001c0001t0001g0097 a0001c0001t0001g0203 a0001c0003t0001g0023 a0001c0003t0001g0033 a0001c0003t0001g0050 a0001c0003t0001g0059 a0001c0003t0001g0091 a0002c0002t0001g0002 a0002c0002t0001g0042 a0007c0012t0001g0109	14	223	0.0628	-1400	c.910 others(17): Show c.910+2971_911-1873del		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1639553	GGGGACAG others(1393): Show GGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCAT GAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCT CTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGC CTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCC ATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGG GACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGA GGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTC CTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTC TGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCAT CCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGA CAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGA TGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCT GTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTG TGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATCCCTCCT GATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCA TGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATG TGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTG AGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGT GTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGA TGCTTCATGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTC CCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGATGTGGGC ACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGT CCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGT GATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTT CATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCA GCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACAC AGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCA TCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGAT A	G G	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0151 a0002c0002t0001g0151	1	223	0.0045	-1400	c.910 others(17): Show c.910+2999_911-1845del		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
CYP4F11_chr19_15907377_15939529	15932529	AGAATGAG others(1393): Show AGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGCGAGGAGA GGAATGAGTGAGCGGGGAGAGGAATGAGTGAGTGGGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA GGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA AGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA AGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGA GGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGCAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGA AGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGCAGAGGAATGAGTG AGCGAGAAGAGGAATGAGTGAGTGGGCAGAGGAATGAGTGAGCGGGGAGA G	A A	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0235 a0001c0002t0001g0235	1	386	0.0026	-1400	c.198 others(16): Show c.198+282_198+1681del		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar
D2HGDH_chr2_241729630_241773811	241765305	CTTGGGGA others(1393): Show CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGATTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GGTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGTGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GGTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA G	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00423.hp2 others(80): Show HG00140.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00597.hp1 HG00609.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG01074.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01358.hp1 HG01433.hp2 HG01515.hp2 HG01943.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02683.hp1 HG02717.hp1 HG02965.hp2 HG03041.hp2 HG03139.hp1 HG03195.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03831.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18942.hp2 NA18943.hp1 NA18947.hp2 NA18948.hp1 NA18951.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp2 NA18969.hp2 NA18979.hp2 NA18985.hp2 NA18990.hp2 NA19000.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19012.hp2 NA19030.hp2 NA19054.hp2 NA19060.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19081.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19090.hp2 NA19240.hp2 NA20805.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0015	a0001c0001 a0001c0026 a0001c0027 others(8): Show a0001c0001 a0001c0026 a0001c0027 a0002c0002 a0003c0003 a0004c0005 a0005c0004 a0006c0006 a0008c0011 a0009c0010 a0015c0019	a0001c0001t0002 a0001c0001t0006 a0001c0001t0016 others(18): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0016 a0001c0001t0017 a0001c0001t0052 a0001c0026t0002 a0001c0027t0002 a0002c0002t0002 a0002c0002t0033 a0002c0002t0034 a0002c0002t0049 a0003c0003t0002 a0003c0003t0011 a0003c0003t0013 a0003c0003t0044 a0004c0005t0002 a0005c0004t0002 a0006c0006t0002 a0008c0011t0002 a0009c0010t0002 a0015c0019t0002	a0001c0001t0002g0010 a0001c0001t0002g0030 a0001c0001t0002g0033 others(77): Show a0001c0001t0002g0010 a0001c0001t0002g0030 a0001c0001t0002g0033 a0001c0001t0002g0058 a0001c0001t0002g0061 a0001c0001t0002g0080 a0001c0001t0002g0100 a0001c0001t0002g0108 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0129 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0156 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0006g0234 a0001c0001t0006g0236 a0001c0001t0006g0241 a0001c0001t0006g0242 a0001c0001t0006g0267 a0001c0001t0006g0269 a0001c0001t0006g0270 a0001c0001t0006g0271 a0001c0001t0006g0273 a0001c0001t0006g0278 a0001c0001t0006g0282 a0001c0001t0006g0285 a0001c0001t0016g0181 a0001c0001t0016g0184 a0001c0001t0017g0009 a0001c0001t0052g0162 a0001c0026t0002g0087 a0001c0027t0002g0010 a0002c0002t0002g0008 a0002c0002t0002g0070 a0002c0002t0002g0095 a0002c0002t0002g0098 a0002c0002t0002g0105 a0002c0002t0002g0142 a0002c0002t0033g0182 a0002c0002t0033g0183 a0002c0002t0034g0264 a0002c0002t0049g0106 a0003c0003t0002g0336 a0003c0003t0002g0337 a0003c0003t0011g0340 a0003c0003t0011g0341 a0003c0003t0011g0342 a0003c0003t0011g0343 a0003c0003t0011g0366 a0003c0003t0011g0367 a0003c0003t0011g0376 a0003c0003t0013g0368 a0003c0003t0013g0369 a0003c0003t0013g0370 a0003c0003t0044g0316 a0004c0005t0002g0104 a0005c0004t0002g0026 a0005c0004t0002g0345 a0005c0004t0002g0346 a0005c0004t0002g0347 a0006c0006t0002g0296 a0006c0006t0002g0297 a0006c0006t0002g0298 a0006c0006t0002g0299 a0008c0011t0002g0102 a0009c0010t0002g0361 a0015c0019t0002g0096	83	412	0.2015	-1400	c.130 others(18): Show c.1307-2224_1307-825del		D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr2	TogoVar
MAD1L1_chr7_1810795_2237945	1990776	CGAGCACC others(1393): Show CGAGCACCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTG GCCTCACGAGCACCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCA CTGCTGGCCTCACGAGCACCGCTGGGTGCCTGAGCACCTGCCCCACCAGA GCGCCACTGCTGGCCTCACGAGCACCGCTGGGTGCCTGAGCACCTGCCCC ACCAGAGCGCCACTGCTGGCCTCACGAGCACCGCTGGGTGCCTGAGCACC TGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCACCGCTGGGTGCCTG AGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCACCGCTGGG TGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCACC GCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCACG AGCACCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGGC CTCACGAGCACCGCTGGGTGCCTGAGCACCCGCCCCACCAGAGCGCCACT GCTGGCCTCACGAGCACCGCTGGGTGCCTGAGCACCCGCCCCACCAGAGC GCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCCGCCCCAC CAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCCG CCCCACCAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAG CACCTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTG CCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCGCCGC TGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAG CGCCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCT CACGAGCGCCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGC TGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGC CACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCTGCCCCACCA GAGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCTGCC CCACCAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCA CCTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCC TGAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTG GGTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCA CCGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCA T	C C	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	264	0.0038	-1400	c.141 others(20): Show c.1416+9889_1417-10236del		MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	14/18						chr7	TogoVar
ANKRD30B_chr18_14743172_14859667	14856087	CGGGCAGA others(1392): Show CGGGCAGAGGCGCTCCTCACCTCCCAGACGGGGAGACCAGGAAGAGGTGC TCCTCACTTCCCAGATGGGACGGCCAGGCAGAGGCGCTCCTCACTTCCCA GATGGTGTGTCATCCGTGAAGAGGCGCTTCTCACCTCCCAGATGATTGGC AGCCAGAGAAAGGTGCTCCTCACTTCCCAGATGGGGCGGCCGAGAAATGC CACTCCCCATTCCCAGATGGGGTGGAGGTCAGGCAGAGGCGCTCCTCACC TCCCAGATGGGGCAGCCGGGCAGAGGCGCTCCTCACCTCCCAGATGGGGA GGCTGGGCAGAGGCGCTCTTCACTTCCCAGAGGGGGTGGCCGGGCAGAGG CGCTCCTCAACTGCCAGACCGGGCGGCCGGCCAGAGGAACTCCTCACCTC CCAGACAATGGGCGGCTGGGGAGAGGTGCTCCTCACCTCCCAGATGATGG GCAGCCAGGCAGAGGCGCTCCTCACTTCCCAGATGGGGCGGCCGGGCAGA GGCGCTCTTCACTTCCCAGATGGCGCGGCCAGGCAGAGGCGCTCCTCAGT TCCCAGATTGTGTGTCGTCCATTCAGAGGCACTCCTCACCTACCAGATGA TGGGCAGCTGGAGGGAGGCACTCCTCACCTCCCAGATGGGGCGACTGGGA AGAGGCGCTCCCCACTTCCCAGACAGGGTGGGAGCTGGGCAGAGGCGCTC CTCACAACCCAGACAGGGTGGCCGGGCAGAGGCACTCCTCACCTCCCAGA CAATGGGCAGCCAGGCAGAGGCACTCCTCACTTCCCAGATGGGGCGGCTG GGCAGAGGTGCTCCTCACTTCCCAGATGGGGCAGCTGGGCAGAGGCGCTC CTCACTTCCCAGATGGGGCAACCAGGCAAGAGGTGCTCCTCATTTCCCAG ATGGGGCGGCTGGGAAGAGGCACTCCTCACCTACCAGACGAAGGGCAGCC AGGCAGAGGCACTCCTCACATCCCAAACGATGGGTGGCCGGGCAGAGGCA CTCCTCACCTCCCAAACGGGGCGGCTGGGCAGAGGTGCTCCTCACCTCCC AGGGGGGGCAGCCAGGCAGAGGGGCTCCTCACCTCCCAGACAATGGGCAG CCAGGCAGAGGTGCTCCTCATTTCCCAGACGGGGTGGCCAGGCAGAGGCA CTCCTCACCTCCCAGACATCACGGCCAGGCAGAGGTGCTCCCCACTTCCC AGACGGGGCGGCTGGGCAGAGGCGCTCCTCACCTCCCAGATGAGGCGGCC TGGCAGAGGAACTCCTCACCTCCCAGATGATGGGCAGCTGGGCAAAGGCG CTCCTCACCTCCCAGACTGGGCGGCCAGGCAGAGGTGCTCCTCGCCTCCC ACATGGGGTGGCCGGGCAGAGGCACTCCTCACCTCCTAGATGGGGTGGCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0013 a0013	a0013c0017 a0013c0017	a0013c0017t0001 a0013c0017t0001	a0013c0017t0001g0009 a0013c0017t0001g0009	1	316	0.0032	-1399	c.19 others(11): Show c.1930_*3328del		ANKRD30B	ENSG00000180777.15	transcript	ENST00000690538.1	protein_coding					1421		chr18	TogoVar
ASMT_chrX_1610059_1648081	1637186	GTCCTGTG others(1392): Show GTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGC CTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCC CTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTATGATGGGGA CAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGCTTCACGAGGA CGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTG AGGTCCACCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGT GTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGA TGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTG TCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGG GCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAG GTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGT GTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGG TTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCC CAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGC ACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGT CCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGT GATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTT CATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCA GCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCAC AGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCC ATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGA TGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCA TGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGC TCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAG CCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATC CCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAG GGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGGCACATG AGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTC	G G	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0022 a0001c0003t0001g0022	1	223	0.0045	-1399	c.910 others(16): Show c.910+641_910+2039del		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1637201	TCCATCCT others(1392): Show TCCATCCTGATGGCACATGAGGATGTGGACACAGCCTCTGTGTGTGTGAT GGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCAT GAGGATGTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTC CTGTGAGATCCATCCCTCCTGATGCTTCACGAGGACGTGGGCACAGCCTC TGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCACCCATCCT GATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCA TGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGATCCATGAGGATG TGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTG AGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGT GTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGA TGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTG TCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGG GCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAG GTCCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGT GAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATG ATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTC CCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGC ACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGT CCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGA GATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGAT CCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCC AGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCAC AGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCC ATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGA TGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCA TGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGC TCTCCTGTGAGGTCCATCCATCCTGATGGCACATGAGGATGTGGGCACAG CCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCAC	T T	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0009 a0002c0002t0001g0009	1	223	0.0045	-1399	c.910 others(16): Show c.910+653_910+2051del		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
C2CD6_chr2_201482421_201624178	201508948	TGCGAAAT others(1392): Show TGCGAAATTTCTTCAAGGTCCTGTTTTGAATTCTTTTAGATATATACCCA GAAATAGGTATGTATCTATGTATCAGAAATAGGATCACATGATAATTCTA TTTTTAATATTTTGAGGCACCTCCATGTTGTTTTCCATAGTGGCTGCATC ATTTTACATTTCCACCAACAGTGCACAAGGGTTCCAATTTCTCCACATCC TCACCAACACGTTATTTTCTTTTCTTTTGATAGAGGCCATCCCAGTGGGT GGGAGGTGATAATTCACTGTGGTTTTGATTGGCATTTGTCTTATGATTTG TAATGTTGAGCATCTTTTCATATGCTTATTGGCCATTTGTATAGCTTCTT TGGAGAACTCTCCATTTTTTAACTGTGTTGTTTTTTGTTGGTGTTGAGTT GTAGAAGTTCCTTATATATTCTGGATATTAACCCCTTATCAGATATATGA TTTGCAAATGTTCGCTACCATTCCATGGATTACCTTTTTACTCTATTGTT TCCTTGATGCAAGAAGTTTTTAAGTTTGATGTAGTCCCACTTGTCTATTT TTACATTCAGTTTTAAATGCTCTGAAACTTAGACCCCTCAAACCACTTCT GGATAAAGACTTTACCAGTTTTCTCATGAAAAGAGATAAGATATCTATAC TAAAACCATGTTCTATTTGTCACTTAAGTGGAAACTCCAAATAGTGTTAT TTTACATAGTAAATTATGTGATTAAAAACAATTATTTACTTTTCATTATT TTCATGCTTAGAAATTTTACTATCTTATTTTTCTTCTCAAAATATTTGTT AATTTTTAAATGAATCTATTTGTCATTCATTCACTTATTAAGTAATTATT TAACAAAAATATGGAGCAGCTATTATAAACCAGGCACTCTCCCAAGTTTT AGATCACAACTGTTCTCTCCTTCCATTCCTTACTCCCCAAATGGGGTAAC CTTTAAGTACAATCAACCCTAATATATAATATATACATTTAATTTTAAAG ATATCGCTGCATTTTATGAAGTTTGCCTTAGAAATAATATACTTTATTTT AAATAGGAAATACAGTGGCTCATTTAACTAGGAATTCTAAGGGATGGGCA TGGCTGGCTCCAGGGACTTAATGTGATCAGGACACTCTCTCTCCATGTTG GCTTTTACAGGCATTCTCTCTTCATCTGGTAGGAAATTACCACTGCTAGC TCTTGGTTTAAAAGAATAAGGGGTCGGGGATGTGGCTCACACCTGTAATC ATTTGGGAGGCCAAGGTGGGCTGATCACCTGAGGTCAGGAGTTCAAGACC AGCCTGGCCAACATGGTGTAACCCTGTCTCTACTAAAAATACAACAATTA GCCAGGTGTGGTGGTGTGCGCCTATAGTCCCAGCTACTCGGGAGGCTGAG	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02615.hp2 HG02922.hp2 others(4): Show HG02486.hp2 HG02615.hp2 HG02922.hp2 HG03130.hp2 HG03225.hp2 HG03486.hp1 NA19043.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0029	a0001c0001 a0002c0007 a0006c0009 others(2): Show a0001c0001 a0002c0007 a0006c0009 a0006c0034 a0029c0020	a0001c0001t0001 a0002c0007t0001 a0006c0009t0001 others(2): Show a0001c0001t0001 a0002c0007t0001 a0006c0009t0001 a0006c0034t0001 a0029c0020t0001	a0001c0001t0001g0102 a0002c0007t0001g0060 a0006c0009t0001g0019 others(4): Show a0001c0001t0001g0102 a0002c0007t0001g0060 a0006c0009t0001g0019 a0006c0009t0001g0020 a0006c0009t0001g0021 a0006c0034t0001g0034 a0029c0020t0001g0015	7	270	0.0259	-1399	c.150 others(21): Show c.1507-14378_1507-12980del		C2CD6	ENSG00000155754.15	transcript	ENST00000439140.6	protein_coding	13/15						chr2	TogoVar
EXOC3_chr5_438176_472290	467405	CCTCCTGG others(1392): Show CCTCCTGGTCCCCTCCTGTCTGACATCCCCTCAGCCTAGAGGGCGCCCTC CTGGTCCCCTCCTGTCTGACATCCCCTCAGCCTAGAGGGTGCCTTCCTGA TCCCCTCATGTCTGACATCCCCTCAGCCTGGAGGGCGCCCTCCTGGTCCC CTCCTGTCTGACATCCCCTCAGCCTGGATGGCGCCCTCCTGGTCCCCTCC TGTCTGACATCCCCTCAGCCTAGAGGGCGCCCTCCTGGTCCCCTCCTGTC TGACATCCCCTCAGCCTGGATGGCGCCCTCCTGGTCCCCTCCTGTCTGAC ATCCCCTCAGCCTAGAGGGTGCCCTCCTGATCCCCTCATGTCTGACATCC CCTCAGCCTGGATGGCGCCCTCCTGGTCCCCTCCTGTCTGACATCCCCTC AGCCTAGAGGGTGCCCTCCTGGTCCCCTCATGTCTGACATCCCCTCAGCC TAGAGGGCGCCCTCCTGATCCCCTCATGTCTGACATCCCCTCAGCCTGGA GGGCGCCCTCCTGGTCCCCTCGTATCTGACATCCCCTCAGCCTGGAGGGC GCCCTCCTGGTCCCCTCCTGTCTGACATCCCCTCAGCCTGGAGGGCGCCC TCCTGATCCCCTCCTGTCTGACATCCCCTCAGCCTGGAGGGCGCCCTCCT GGTCCCCTCGTATCTGACATCCCCTCAGCCTGGAGGGCGCCCTCCTGGTC CCCTCCTGTCTGACATCCCCTCAGCCTGGAGGGCGCCCTCCTGATCCCCT CCTGTCTGACATCCCCTCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCGTA TCTGACATCCCCTCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCGTATCTG ACATCCCCTCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCGTATCTGACAT CCCCTCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCCTGTCTGACATCCCC TCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCCTGTCTGACATCCCCTCAG CCTGGAGGGCGCCCTCCTGGTCCCCTCCTGTCTGACATCCCCTCAGCCTG GAGGGCGCCCTCCTGGTCCCCTCCTGTCTGACATCCCCTCAGCCTGGAGG GTGCCCTCCTGGTCCCCTCCTGTTTGACATCCCCAGAGTTACTCCTTGGG TCCTTTGAGAGATGAGACACCAGCTGCACCCAGCAAGCCCTGTCCCCACC CCCAGGTGAGCAGACCTCTGGCACCGGGTGTTGCCAGCCAAGTCAGCCAT ACCTGGTAGACGAGCAATGGCAGGAGTGTAAATTTTGGTAAAAGTAAATA TGAAAGTGAATATTTACTTGGAGTACACTTCAAGACCCGCGAATCATGCT TTCCCTGATAGAGAATCCTTTAAATTCTCTTTTCTAAAATGTACCCATCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	418	0.0024	-1399	c.50 others(10): Show c.508_*1906del		EXOC3	ENSG00000180104.16	transcript	ENST00000512944.6	protein_coding					116		chr5	TogoVar
SLC9A3_chr5_465456_529449	467405	CCTCCTGG others(1392): Show CCTCCTGGTCCCCTCCTGTCTGACATCCCCTCAGCCTAGAGGGCGCCCTC CTGGTCCCCTCCTGTCTGACATCCCCTCAGCCTAGAGGGTGCCTTCCTGA TCCCCTCATGTCTGACATCCCCTCAGCCTGGAGGGCGCCCTCCTGGTCCC CTCCTGTCTGACATCCCCTCAGCCTGGATGGCGCCCTCCTGGTCCCCTCC TGTCTGACATCCCCTCAGCCTAGAGGGCGCCCTCCTGGTCCCCTCCTGTC TGACATCCCCTCAGCCTGGATGGCGCCCTCCTGGTCCCCTCCTGTCTGAC ATCCCCTCAGCCTAGAGGGTGCCCTCCTGATCCCCTCATGTCTGACATCC CCTCAGCCTGGATGGCGCCCTCCTGGTCCCCTCCTGTCTGACATCCCCTC AGCCTAGAGGGTGCCCTCCTGGTCCCCTCATGTCTGACATCCCCTCAGCC TAGAGGGCGCCCTCCTGATCCCCTCATGTCTGACATCCCCTCAGCCTGGA GGGCGCCCTCCTGGTCCCCTCGTATCTGACATCCCCTCAGCCTGGAGGGC GCCCTCCTGGTCCCCTCCTGTCTGACATCCCCTCAGCCTGGAGGGCGCCC TCCTGATCCCCTCCTGTCTGACATCCCCTCAGCCTGGAGGGCGCCCTCCT GGTCCCCTCGTATCTGACATCCCCTCAGCCTGGAGGGCGCCCTCCTGGTC CCCTCCTGTCTGACATCCCCTCAGCCTGGAGGGCGCCCTCCTGATCCCCT CCTGTCTGACATCCCCTCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCGTA TCTGACATCCCCTCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCGTATCTG ACATCCCCTCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCGTATCTGACAT CCCCTCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCCTGTCTGACATCCCC TCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCCTGTCTGACATCCCCTCAG CCTGGAGGGCGCCCTCCTGGTCCCCTCCTGTCTGACATCCCCTCAGCCTG GAGGGCGCCCTCCTGGTCCCCTCCTGTCTGACATCCCCTCAGCCTGGAGG GTGCCCTCCTGGTCCCCTCCTGTTTGACATCCCCAGAGTTACTCCTTGGG TCCTTTGAGAGATGAGACACCAGCTGCACCCAGCAAGCCCTGTCCCCACC CCCAGGTGAGCAGACCTCTGGCACCGGGTGTTGCCAGCCAAGTCAGCCAT ACCTGGTAGACGAGCAATGGCAGGAGTGTAAATTTTGGTAAAAGTAAATA TGAAAGTGAATATTTACTTGGAGTACACTTCAAGACCCGCGAATCATGCT TTCCCTGATAGAGAATCCTTTAAATTCTCTTTTCTAAAATGTACCCATCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0198 a0001c0001t0031g0198	1	218	0.0046	-1399	c.45 others(11): Show c.4575_*5973del		SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding					3050		chr5	TogoVar
ASMT_chrX_1610059_1648081	1639397	GTGTCCCA others(1391): Show GTGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGCTTCACGAGGAC GTGGGCACAGCCTCTGTGTATGATGGGGACAGTGTCCCAGTGTCCTGTGA GGTCCATCCATCCTGATGGCACATGAGGATGTGGACACAGCCTCTGTGTG TGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTGATG GTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTC CCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGA CACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGAT CCATCCATCCTGATGGCACATGAGGATGTGGGCACAGCCTCTGTGTGTGA GATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCATCCATCCTGATGAT CCATGAGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCC AGTGTCCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCAC AGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCC ACCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGTGTGTGTGA TGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACA TGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGC TCTCCTGTGAGGTCCACCCATCCTGATGATCCATGAGGATGTGGACACAG CCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGGTCCATC CCTCCTGATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAG GGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCATCCTGATGATCCATG AGGATGTGGACACAGCCTCTGTGTGTGTGATGGGGACAGTGTCCCAGTGT CCTGTGAGATCCATCCCTCCTGATGGTTCATGAGGATGTGGGCACAGCCT CTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTGTGAGGTCCACCCA TCCTGATGCTTCATGAGGACGTGGGCACAGCCTCTGTGTATGATGGGGAC AGTGTCCCAGTGTCCTGTGAGATCCATCCATCCTGATGGCACATGAGGAT GTGGGCACAGCCTCTGTGTGTGAGATAGGGACCATGTCCCAGCTCTCCTG TGAGGTCCATCCATCCTGATGATCCATGAGGATGTGGACACAGCCTCTGT GTGTGTGATGGGGACAGTGTCCCAGTGTCCTGTGAGATCCATCCCTCCTG ATGGTTCATGAGGATGTGGGCACAGCCTCTGTGTGTGAGATAGGGACCA	G G	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0199 a0002c0002t0002g0199	1	223	0.0045	-1398	c.910 others(17): Show c.910+2875_911-1971del		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	8/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
HRNR_chr1_152207076_152229193	152218701	GCTAGATC others(1391): Show GCTAGATCCATGTTGTTCGCTCCTAGATGACTGTCCTGACCTAGAGCCGT GTTGTTCGTAGCTGGAGGAGTGACCTGAGCCAGATCCATGCTGAGTGTAA CCAGAGGACTGCCCTGAGCTAGACTTGTGACCAAAGCCAGAAGACTGGCC TGAGCCAGACCCATGTCGGCCACTGCTGGAAGACCGACCGGAGCCAGACC CATGTCGGCCATAGCTGGGAGACTGCCCTGACCCAGACCCACGCTGGCCG TGGCCTGGAGACTGGCCAGATCCAGAGCCATGTCGGCCGCGGCCCGAAGC GTGATGGGAGGCAGACTCATGCTGACCATAGCTGGAAGATTGACCTGAGC TAGAGTCATGTTGGCCGGAGCTTGATGACTGCCCTGACGTAGATCCATGT CGTCCCTGGCTAGAGAAGTGACCTGAGGCAGAACCATGCTGACTATAGCC CTGTCCTGAGCCAGACTCGTGTTGCCCAAAACCAGAAGCCTGGCCTGAGC CAGACTCATAATGGCCACAGCTGGAAGAACAACTTGTGCCAGACCCGTGT TGGCCGTGGCTGGAGGAGTGCCCTGAACTGGACCCATGTCGGACACGGCT AGGAGAGTGGCCAGATCCAGACCCTTGTCGGCCGTGGCCCGAAGATTGAT GGGAGCCCGACCCATGCTGACCATAGCTGGAAGACAAACCTGAGCTAGAT CCGTGTTGTTCACTCCTAGATGACTGTCCTGACCTAGAGCCGTGTTTTCT GTAGCCGGAGGAGTGACTTGAGCCAGATCCATGCTGACTGTAACCAGAGG ACTGCCCTGAGCCAGACTTGTGACCAAAGCCGGAAGACTGGCCTGAGACA GACCCATGTGGGCCATTGCTTGAAGACCAACCGGAGCCAGACCCATGTTG GCCGTAGCTGGAAGAGTGCCCAAAATCGGACCCATGTCGGCCGCGACTAG GAGACTGGCCAGATCCAGAGCCCTGTTGGCCATAGCGAGAAGACTGACTT GAGCCAGAGCCATGCTGACCGTGGCTGGAAGACTGACCTGAGGTAGCTCC ATGTTGGCCACAGCTCGATGACTGTCCTGATGTAGAACCATGTTGCCCAT GGGTAGAGGAATGACCCGAGCTAGATCCGTGTTGACCGTAGCCAGAGGAC TGTCCTGAGCGAGACTCTTGGTGACCTAAGCCAGAAGAGTGACCGGAGCC AGACTCATATGGGCCACGGCTTGAAGACCTCCCTGAGCCATACCCATGTG GGCCATAGCTGGAAGACTGCCTGGAACCAGACTCATGTCGGCCACGGCTA GGGCTAGGAGACTGGCCAGATCCAGACCCATGTCGGCTGTGTCCCAAAGA TTGACGGGAGCCAGACCCATGCTGACCATAGCTGGAAGATGAACCTGCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0180 a0001c0180	a0001c0180t0001 a0001c0180t0001	a0001c0180t0001g0071 a0001c0180t0001g0071	1	418	0.0024	-1398	c.153 others(9): Show c.1530_2927del	p.Ala others(13): Show p.Ala511_Ser976del	HRNR	ENSG00000197915.7	transcript	ENST00000368801.4	protein_coding	3/3	3003/9629	1530/8553	510/2850			chr1	TogoVar
ARK2C_chr18_46329018_46468140	46397555	TGAGGGTG others(1390): Show TGAGGGTGTGTGTGTGTGTGTGGTCATGCTGGGGTGTGAGGGTGTGTGTG TGTGTGTGGTCATGCTGAGGTGTGAGGGTGTGTGTGTGTGTGGGGTCATG CTGGGGCAGAATTGTGTGTGTGTGTGTGTGTGGTTATGCTGGGGTGTGAG GGTGTGTGTGCATGTGGTGTGTGTGTGTGATCATGCTGAGGTGTGAGGGT GTGTGTGCATGTGGTGTGTGTGTGTGATCATGCTGAGGTGTGAGGGTGTG TGTGCATGTGGTGTGTGTGTGTGGTCATGCTGGGGTAGGAGGGTGTGTGT GCATGTGGTGCGTATGTGTGTGTGTGATCATGCTGAGGTGTGAGGGGGTG TGTGCATGTGGTGTGTGTGTGATGATGCTGGGGTGCGAGGGTGTGTGTGC ATGTGGGGTGTGTGTGTGTGGTCATGCGGAGGTGTGAGGGTGTGTGTGCA TGTGGTATGTGTGTGTGGTCATGTGGAGGTGTGAGGGTGTGTGTACCTGT GGTGTGTGTGTGTGGTCATGCTGACGTGTGAGGGTGTGTGCGCATGTGGT GTGTGTGTGAGATCATGCTGGGGTGGGAAGGTGTGTGTGTGGCCATGCAG AGGTGTGAGGGTGTGTGTGCATGTGGTGTATGTGTGTGGTCATGCAGAAG TGTGAGGGTGTGTGTGCCTGTGGTGTGTGTGTGGGGTCATGCGGAGGTGT GAGGGTGTGTGTGCATGTGGTGTGTGTGTGAGTGTGTGTGTTCACAGTGA GGCCGCAGGGCAGGAAGAAGGAAGCAGGTAGGGAGGGGGAGCGACACCAG GCGAGCAGGTGTTGGATGGCAAGTGAAGTGTGTGTCAAGTGCCCCGAGCC TTCATCAGGGCTGTGGAGGGTCTGGCAGAAGAAACCTAGCCCCTTACCCC CAAGGTGCCTGCTGGTGGGCACAGGAAGCTGACACAGGTGAGACAATTGG CCAGCAAATCTGGACAGTGTCCGGTGAGATATCAGAGAGTGTGGCCGGGA CTTTAGTGCTAGAGGAACCCATGGGTGGGAGATCAGGGAGAGTGGGAAGA GAAGGGCTGGAGTTGGGCTGACACCATGGGTTGGTGGGTCTGAATTGCAG GGGTCCACGCTGCTGAACTGAGAGCACACGGTCTAGCCCCACAGGCTCTG TAAGACCAGTGCCCTTAAAGCTCCTGGCACCTGTGACAGGAGGGGCCAGA TATCCCAAATACTCGGGCTCCTCCCTCATGGCTCAGTGCTCCTGGTGGGG TGTGGTTACTGTCCTTTGACCTGCTGGCTTCTGCCCTCTCTCGTCTGGTC ATTATCTCAAATGAGACACGTCGACAACATCTAGTCATCGTCTAGGATGC ACATGTAGGGCAGTGGTTCTGAAACCTCACTGTGCCAAAGAATCCCCA	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	260	0.0039	-1397	c.62- others(17): Show c.62-35633_62-34237del		ARK2C	ENSG00000141622.14	transcript	ENST00000269439.12	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr18	TogoVar
DENND5B_chr12_31377226_31596136	31501293	GCCATATG others(1390): Show GCCATATGAAGAAGGATGTGTTTACTTCCCCTTCCGCCACAATTGTAAGT TTCCTGAGGCCTCCCCAGCCCTATGGAACTGTGAGTCAATTCAACCTCTT TCCTTTATAAATTGCCCGGTCTCAAGTCTATCTTTATTAGCAGCATGAAA ACAGACGAATACAAGAATATTAAGTAAAAACTAAAGAAATCTAAATAGAG GCCGGGCGCAGTGGCTCATGCCCGTAATCCCAATACTTTGGGAGGCCAAG GAAGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATG GCAAAACCCTGTCTCCACTAAAAATACAAAATTAACCAGGCATGGTGGTG CATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAGAATTGCCTG AACCCGGGAGGTGGAGGCTGCAGTGAGCTGAGAACGCGCCACTGCACTCC AGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAGAAAG AAAAAAGAAATCTAAATAGAGTGTAGACTTTAGTTAGCAATAATGTATCA ATATTTATTCATTAATTATAACTAATGTACCATACTACGAGAGGTTAATG ATAGGGGAAATTGTGTGTGTGGGGTGAGGCAAGTATATGGGAACTCCATT CTCAATTTTTCTGCAAATATAAAAACAACTTTATTTTAGAAATTACATTC CAGTATTTAAGGTAAAAACACCAGCAACATTATATTCAATCTTGCCGGGC GCAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCGGAGGTGGGCG GATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCC CATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCACACACCTG TAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAGAATCCCTCAAACCCGGG AGGTGGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGG TGACAGAGCAAAGCTGTCTCAAAAACAAAAACAAAAACAAAAAAAACATT ATATTCAATCTTATAAGTAATCTACCTTTTATAAATCATGTTTATCAATG CAAACATAAGCTGAAATTTGCTTTATACTGATATCCCATTTCGTCAATAA TATTCCTAAGCATAATTATAAAGTGTCAACTCTTGGAGGAAAGTTTACTA CTGTAACGACACAGGCTATAACTTAGCAGCTTTGAAGAGTGTAAAAACTT CTGAATGTCTTTTATTGGTTACTCAGATGTCTAAAACTCAGATATCTTTA AAGAGATGTCAGAGTCTTTCTTTTAAATAGTCAATAATGATAATGTAGGG TACCAATGGCCAAGAGAGCTTGCTATCCACACCCCCAACGTTTGATGA	G G	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0255 a0001c0001t0003g0255	1	308	0.0033	-1397	c.128 others(17): Show c.128-6771_128-5375del		DENND5B	ENSG00000170456.16	transcript	ENST00000389082.10	protein_coding	1/20						chr12	TogoVar

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Search Results (Total: 2609 hits)