Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
FAM210A_chr18_13658347_13731558	13674895	CTTCTTTA others(177): Show CTTCTTTATTTCCAGTTTCCTGATTATTAACATTCCTGAGCCGTGACTTA TTTCCAGTTTCCTGATTATTAACATTCCTGAGCCCTGGCTTCTTTATTTC CTGTTTCCTGATTATTAACATTCCTGAGCCCTGGCTTCTTTATTTCCTGT TTCCTGATTATTAACATTCCTGAGCCCCAACTTCA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02895.hp2 HG02922.hp1 others(1): Show HG01891.hp1 HG02895.hp2 HG02922.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0009 a0001c0001t0014 a0001c0001t0006 a0001c0001t0009 a0001c0001t0014	a0001c0001t0006g0260 a0001c0001t0009g0045 a0001c0001t0014g0006 a0001c0001t0006g0260 a0001c0001t0009g0045 a0001c0001t0014g0006	4	326	0.0123	-184	c.474 others(17): Show c.474-3106_474-2923del	FAM210A	ENSG00000177150.13	transcript	ENST00000651643.1	protein_coding	2/3			chr18	TogoVar
GAL3ST2_chr2_241771822_241809287	241806140	GACCTCCG others(177): Show GACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	314	0.0032	-184	c.19 others(11): Show c.1975_*2158del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1854		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241806596	TCCGCAGG others(177): Show TCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCT CAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0066	1	314	0.0032	-184	c.24 others(11): Show c.2431_*2614del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2310		chr2	TogoVar
GAS6_chr13_113815549_113869076	113828919	ACCACCTG others(177): Show ACCACCTGATCCTCCCCTGAGCCAAGAGGGTCCCGACCTCAGGGAGACCA CCTGATCCTCCCCTGAGCCAAGAGGGTCCCGATCTCAGGGAGACCACCTG ATCCTCACCTGGGCCAAGAGGGTCTCAATCTCAGGCAGACCACATGATCC TCACCTGGGCCAAGAGGGTCCCGATCTCAGGGAGG	A A	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18990.hp1 NA19088.hp1 NA18522.hp1 NA18990.hp1 NA19088.hp1	a0001 a0001	a0001c0003 a0001c0008 a0001c0003 a0001c0008	a0001c0003t0001 a0001c0008t0001 a0001c0003t0001 a0001c0008t0001	a0001c0003t0001g0062 a0001c0003t0001g0123 a0001c0008t0001g0079 a0001c0003t0001g0062 a0001c0003t0001g0123 a0001c0008t0001g0079	3	143	0.0210	-184	c.114 others(17): Show c.1144-392_1144-209del	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	10/14			chr13	TogoVar
GCNT3_chr15_59606783_59627723	59610988	CCCCTCCC others(177): Show CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCCTCCCCTCACCCTCCCCCTCCCCTCGCCCTCCCCCTCCCCTCGCCCT CCCCCTCCCCTTCTCCTCCCCCTCCCCTTCTCCTCCCCCTCCCCTTCTCC TCCCCCTCCCCTTCTCCTCCCCCTCCCCTTCTCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp1 NA18946.hp2 NA18954.hp2 others(5): Show HG01943.hp1 NA18946.hp2 NA18954.hp2 NA18957.hp1 NA18999.hp2 NA19005.hp2 NA19065.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0013 a0001c0002t0008 a0001c0002t0009 others(3): Show a0001c0001t0013 a0001c0002t0008 a0001c0002t0009 a0001c0002t0011 a0001c0002t0099 a0001c0002t0100	a0001c0001t0013g0002 a0001c0002t0008g0002 a0001c0002t0009g0002 others(4): Show a0001c0001t0013g0002 a0001c0002t0008g0002 a0001c0002t0009g0002 a0001c0002t0009g0010 a0001c0002t0011g0002 a0001c0002t0099g0002 a0001c0002t0100g0002	8	428	0.0187	-184	c.-12 others(11): Show c.-1243_-1060del	GCNT3	ENSG00000140297.13	transcript	ENST00000396065.3	protein_coding		794		chr15	TogoVar
GEN1_chr2_17749138_17793946	17778248	GTATACAC others(177): Show GTATACACACATATGTGTGTACATATATGTATATACACACACATGTGTGT GTACATATATGTATATACACACACACGTGTACATATATGTATACACACAC ATGTGTGTACATATATGTATATACACACACATATATGTGTGTACATATAT GTATATACACACATATATGTGTGTACATATATGTA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0047 a0003c0003t0047	a0003c0003t0047g0054 a0003c0003t0047g0054	1	318	0.0031	-184	c.126 others(17): Show c.1264+196_1264+379del	GEN1	ENSG00000178295.15	transcript	ENST00000381254.7	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
GFOD1_chr6_13352830_13492600	13434165	GCAGGGCA others(177): Show GCAGGGCATTATGGGAACACAGGAATCAAGTGCATGGCATTATGAGAACA CAAATCAAGTGCAGAGCATTATGGAAGCACAGAAGTCAAGTGCAGGGCCT TATGGGAACACAGAAGTCAAGTGCAGGGCTTTATGGGAACACAGAAATCA AGTGCAGGGCATTATGGGAATATAGAGGTCAAGTT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0002 a0001c0001t0033g0002	1	230	0.0044	-184	c.253 others(19): Show c.253+52289_253+52472del	GFOD1	ENSG00000145990.11	transcript	ENST00000379287.4	protein_coding	1/1			chr6	TogoVar
GLYATL1B_chr11_59081307_59099786	59090492	CGTGATTT others(177): Show CGTGATTTTTCCATTAAGTTTACCCTTAGGTATTTTATATTATTTTTTAA GATTATTAAATTATTTTTCCTTTTCTATTTCTGAGCATTATTATTTTGTT ATTGCTTTCTATTTATATTCTTCATTTCCAAATATGTCACACTATGCTTT AAAATCTTCTTTGTTTGCCTGGGGTGTTATTTGTT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA18982.hp2 HG00609.hp1 NA18982.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0000 a0006c0006t0000	a0006c0006t0000g0027 a0006c0006t0000g0027	2	436	0.0046	-184	c.187 others(17): Show c.187-3036_187-2853del	GLYATL1B	ENSG00000255151.2	transcript	ENST00000527482.2	protein_coding	2/4			chr11	TogoVar
GPM6A_chr4_175627937_175817264	175637538	CAATATAT others(177): Show CAATATATTATATATTATATAAAAATATATTATATATTATATAAAATATA TTATATATTATGTAAAATATATAATATATAATATATATTATATATATATT ATATATTATATAAAATATAAAATATATAATATATATAATATATATATAAT ATATAATATATTATATATTATATATATTTATATAT	C C	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18974.hp2 NA18955.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0254 a0001c0001t0001g0255	2	270	0.0074	-184	c.684 others(17): Show c.684+2407_685-2482del	GPM6A	ENSG00000150625.17	transcript	ENST00000393658.7	protein_coding	6/6			chr4	TogoVar
HDAC4_chr2_239043168_239406020	239232656	CCCCTCAC others(177): Show CCCCTCACCAAGCCAAGGGTGGCCCTTCCCCTCACCAAGCCAAGGGTGGC CCTTCCCTCACCAAGCCAAGGGTGGCCCTTCCCCTCACCAAGCCAAGGTG GCCCTTCCCTCTCCAAGCCAAGGGCGGCCCTTCCCCTCACCAAGCCAAGG GTGGCCCTTCCCTCACCAAGCCAAGGGTGGCCCTT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01099.hp1 HG01168.hp1 others(1): Show HG00642.hp1 HG01099.hp1 HG01168.hp1 HG01169.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0014 a0001c0001 a0001c0002 a0004c0014	a0001c0001t0005 a0001c0002t0009 a0004c0014t0002 a0001c0001t0005 a0001c0002t0009 a0004c0014t0002	a0001c0001t0005g0099 a0001c0002t0009g0100 a0004c0014t0002g0101 others(1): Show a0001c0001t0005g0099 a0001c0002t0009g0100 a0004c0014t0002g0101 a0004c0014t0002g0102	4	242	0.0165	-184	c.94+ others(15): Show c.94+3753_94+3936del	HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	3/26			chr2	TogoVar
HSD17B14_chr19_48808018_48841491	48834486	GCTGAGGT others(177): Show GCTGAGGTCTGGACTCCTGGGTCTGAGGAAGTAGGGCCTGGGGGCCTGGA CTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCCGA GGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCT GGGAGCCTGGACTCCTGGGTCCGAGGAAGTAGGGC	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0319 a0002c0002t0001g0319	1	394	0.0025	-184	c.128 others(15): Show c.128-312_128-129del	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8			chr19	TogoVar
HSD17B14_chr19_48808018_48841491	48835081	AGCCTGGA others(177): Show AGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCT GGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCCGAGGAAGT AGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGTGCTGGGAGC CTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGG	A A	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03491.hp2 homoSapiens_chm13v2.hp1 HG03239.hp2 HG03491.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234	3	394	0.0076	-184	c.127 others(15): Show c.127+540_127+723del	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8			chr19	TogoVar
IL1A_chr2_112768925_112789493	112776428	TCCCAAAA others(177): Show TCCCAAAAACCCACAACCATGACCCGCCCCCTCCTCTGAATGTCCTACCC AAAAACCCACAACCACGACCCGCCCCCTCCTCTGAATGTCCTACCCAAAA ACCCACAACCACGACCCGCCCCCTCCTCTGAATGTCCTACCCAAAAACCC ACAACCACGACCCGCCCCCTCCTCTGAATGTCCTA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00423.hp1 others(181): Show HG00099.hp1 HG00323.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp2 HG01109.hp1 HG01168.hp1 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01346.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02129.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04184.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18943.hp1 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18952.hp1 NA18955.hp1 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18981.hp2 NA18983.hp2 NA18986.hp1 NA18990.hp2 NA18991.hp2 NA18993.hp1 NA19000.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19060.hp2 NA19064.hp1 NA19066.hp1 NA19068.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19080.hp1 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19090.hp1 NA19091.hp1 NA20129.hp2 NA20300.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0007	a0001c0001 a0001c0003 a0001c0008 others(5): Show a0001c0001 a0001c0003 a0001c0008 a0002c0002 a0003c0004 a0004c0005 a0005c0007 a0007c0009	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(9): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0003t0005 a0001c0008t0004 a0002c0002t0002 a0002c0002t0004 a0003c0004t0005 a0004c0005t0003 a0005c0007t0005 a0007c0009t0002	a0001c0001t0003g0003 a0001c0001t0003g0005 a0001c0001t0003g0018 others(48): Show a0001c0001t0003g0003 a0001c0001t0003g0005 a0001c0001t0003g0018 a0001c0001t0003g0021 a0001c0001t0003g0024 a0001c0001t0003g0076 a0001c0001t0003g0078 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0004g0016 a0001c0001t0004g0017 a0001c0001t0004g0032 a0001c0001t0004g0068 a0001c0001t0004g0075 a0001c0001t0004g0079 a0001c0001t0005g0063 a0001c0001t0005g0064 a0001c0001t0006g0015 a0001c0001t0006g0062 a0001c0001t0006g0065 a0001c0001t0006g0066 a0001c0001t0006g0067 a0001c0003t0005g0023 a0001c0008t0004g0083 a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0008 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0004g0096 a0003c0004t0005g0031 a0004c0005t0003g0073 a0005c0007t0005g0070 a0007c0009t0002g0103	184	358	0.5140	-184	c.616 others(17): Show c.616-1345_616-1162del	IL1A	ENSG00000115008.6	transcript	ENST00000263339.4	protein_coding	6/6			chr2	TogoVar
IL1R2_chr2_101986960_102033544	102003002	ATGTCTGT others(177): Show ATGTCTGTGTCTGTGTCTCTGTCTGTGTCTGTGTCTATGCCTATGTCTAT ATCTGTGTCTGTGTCTGGCTGTGGCTGTGTCCGTGTCTGTGTCTATGTCT GTGTCTATGTCTGTGTCTGTGTCTCTGTCTGTGTCTATGTCTGTGTCTGT GTCTCTGTCTGTGTCTATGTCTGTGTCTGTGTCTC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(83): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00639.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01081.hp2 HG01099.hp2 HG01168.hp2 HG01257.hp2 HG01346.hp1 HG01358.hp1 HG01934.hp1 HG01952.hp2 HG01975.hp1 HG01993.hp2 HG02004.hp2 HG02040.hp1 HG02071.hp2 HG02080.hp2 HG02132.hp2 HG02148.hp1 HG02273.hp1 HG02300.hp2 HG02451.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG03017.hp1 HG03491.hp2 HG03492.hp2 HG03688.hp1 HG03704.hp2 NA18612.hp2 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18947.hp2 NA18949.hp2 NA18951.hp2 NA18952.hp2 NA18955.hp2 NA18956.hp1 NA18959.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp2 NA18967.hp1 NA18971.hp1 NA18978.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18989.hp2 NA18993.hp1 NA18999.hp2 NA19001.hp1 NA19003.hp1 NA19007.hp2 NA19011.hp1 NA19058.hp1 NA19060.hp1 NA19063.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19085.hp1 NA19086.hp2 NA20129.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0001c0009 a0005c0016	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 others(2): Show a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0009t0001 a0005c0016t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(69): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0003t0001g0084 a0001c0004t0001g0073 a0001c0009t0001g0092 a0005c0016t0001g0003	86	426	0.2019	-184	c.-61 others(17): Show c.-61-5501_-61-5318del	IL1R2	ENSG00000115590.14	transcript	ENST00000332549.8	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
KCNQ3_chr8_132115861_132486095	132164243	ATTGCCCA others(177): Show ATTGCCCAAGGTCTACACTGAGCAAATCCCCTCACAAGTGGAATGGTACT CTGTCATTATTACGTGGATCACATTGTAGTAGAATTACATGTAGTCTCGT TTTTTTTTTTTCTTGTCTAAAATATGAGCACTCTGGAGCCCAGCACGTGA GAGTGCTCACTAAATGTTGAAAGAATGACTGGCCT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG01884.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0058 a0001c0001t0056 a0001c0001t0058	a0001c0001t0056g0087 a0001c0001t0058g0065 a0001c0001t0056g0087 a0001c0001t0058g0065	2	176	0.0114	-184	c.123 others(17): Show c.1236-933_1236-750del	KCNQ3	ENSG00000184156.18	transcript	ENST00000388996.10	protein_coding	8/14			chr8	TogoVar
KNDC1_chr10_133155219_133231412	133223499	GTGTGCAT others(177): Show GTGTGCATGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGT GTGCGTGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGT GTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTCTGTGTGT GTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA19240.hp1 HG02630.hp2 NA19240.hp1	a0012 a0012	a0012c0018 a0012c0045 a0012c0018 a0012c0045	a0012c0018t0006 a0012c0045t0006 a0012c0018t0006 a0012c0045t0006	a0012c0018t0006g0267 a0012c0045t0006g0244 a0012c0018t0006g0267 a0012c0045t0006g0244	2	332	0.0060	-184	c.501 others(18): Show c.5019-1155_5019-972del	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	29/29		INFO_REALIGN_3_PRIME	chr10	TogoVar
LMF1_chr16_848634_975984	858063	TCGGGATG others(177): Show TCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGG GATGGGTGTGAGTGGTGTCACGGGATGGGTGTGAGTGGTGTCTCGGGATG GGTGTGCGTGGTGTCACGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTG TGCGTGGTGTCACGGGATGGGTGTGAGTGGTGTCA	T T	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0001 a0001c0026t0001	a0001c0026t0001g0234 a0001c0026t0001g0234	1	294	0.0034	-184	c.153 others(19): Show c.1530-3541_1530-3358del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	904196	TGGTGACC others(177): Show TGGTGACCTCTGCATCGCCCACAGGACGCCTGTCTCTGCTGCGTCGTGGT GACCTCTGCATCGCCCACAGGACGCCTGTCTCTGATGTGTGGTGGTGACC TCTGCACTGCCTGTGGGGACGCCTGTCTCTGCTGCGTGGTGGTGACCTCT GCATCGCCCACAGGACGCCTGTCTCTGCTGCGTGG	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01071.hp1 HG01258.hp2 others(4): Show HG00741.hp2 HG01071.hp1 HG01258.hp2 HG01978.hp1 HG02300.hp1 HG03239.hp1 HG04204.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0010 a0002c0035 a0008c0036 a0001c0010 a0002c0035 a0008c0036	a0001c0010t0001 a0002c0035t0001 a0008c0036t0003 a0001c0010t0001 a0002c0035t0001 a0008c0036t0003	a0001c0010t0001g0115 a0001c0010t0001g0271 a0001c0010t0001g0272 others(4): Show a0001c0010t0001g0115 a0001c0010t0001g0271 a0001c0010t0001g0272 a0001c0010t0001g0273 a0001c0010t0001g0276 a0002c0035t0001g0280 a0008c0036t0003g0277	7	294	0.0238	-184	c.663 others(17): Show c.663+6551_663+6734del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	4/10			chr16	TogoVar
LMF1_chr16_848634_975984	960966	CACAGACT others(177): Show CACAGACTCACGGTGACAGCACGGGATCACGACCCAGACAGACTCACGGT GACAGCACGGGATCACGACCCAGACACAGACTCACGGTGACAGCACGGGA TCACGACCCAGACACAGACTCACGGTGACAGCACGGGATCACGACCCAGA CAGACTCACGGTGACAGCACGGGATCACGACCCAG	C C	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	294	0.0034	-184	c.194 others(17): Show c.194-6484_194-6301del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10			chr16	TogoVar
LRRC24_chr8_144517388_144532033	144531294	AAGGGCAC others(177): Show AAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATAGCAG GCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAG ACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGA GTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0034 a0002c0002t0001g0034	1	398	0.0025	-184	c.-45 others(11): Show c.-4578_-4395del	LRRC24	ENSG00000254402.7	transcript	ENST00000529415.7	protein_coding		4262		chr8	TogoVar
MAP4K3_chr2_39244266_39442285	39327703	AAAATTTA others(177): Show AAAATTTAAATTACTATAAGAAAAGCGAATTTCAAAGTGTCAGTTATTAC TTTTATGATGACTAGATTCCAAGTAGCTGGTAGAAATGCCCTAGTGGAGT GGGAAATGCATGCAAGTGATACGCTCCTAACTTGCCTCCCCTTACTAGTT CACCACATTAGCTGATGCTCTCCCTTCTTCTATGT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0005 a0002c0010t0005	a0002c0010t0005g0017 a0002c0010t0005g0017	1	232	0.0043	-184	c.531 others(17): Show c.531-1610_531-1427del	MAP4K3	ENSG00000011566.15	transcript	ENST00000263881.8	protein_coding	8/33			chr2	TogoVar
MBD3L5_chr19_7025578_7038011	7035766	ATATATAT others(177): Show ATATATATAATATAATTATATAACATATAAATTATATTATATATATAATA TAATTATATAACATATAAATTATATTATATATATAATATAATTATATAAC ATATAAATTATATTATATATAATATAATTCTATAACATATAAATTATATT ATATATAATATAATTATATAACATATAAATTATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	1	249	0.0040	-184	c.28 others(11): Show c.2873_*3056del	MBD3L5	ENSG00000237247.6	transcript	ENST00000329753.5	protein_coding		2756		chr19	TogoVar
MUC4_chr3_195741771_195816929	195767681	TCACTGGC others(177): Show TCACTGGCCACCCCCCAAAAAATACCACCATCGGCCACCACCACCATCAC CACCACCATCACCATCGCCACCACCACCATCACCACCACCACCACCATCA CCACCATCATTGCCACCACCATCATCACCACCATCACCACCACCACCACC ATCACCACCACCACCATCGCCACCATCACCCCCAA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02976.hp1 HG01884.hp1 HG02976.hp1	a0070 a0073 a0070 a0073	a0070c0174 a0073c0176 a0070c0174 a0073c0176	a0070c0174t0002 a0073c0176t0005 a0070c0174t0002 a0073c0176t0005	a0070c0174t0002g0211 a0073c0176t0005g0228 a0070c0174t0002g0211 a0073c0176t0005g0228	2	249	0.0080	-184	c.135 others(20): Show c.13530-1114_13530-931del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	7/24			chr3	TogoVar
NEO1_chr15_73047463_73310205	73191318	TGTAACTT others(177): Show TGTAACTTTAGGATAATAGTAATTGGAAAGAACATAGAAAGACAGAGTAT CGATGAGAATTCAATAGTCAGCATTAAAGGAGATTAAAAGTGAAGATAAA AGCTTAACTTTATGAAGCAAAGTTTGAAGGTTTTTTCAAAATAGACAACA GAAATCTTTAGGATAATAGTAACTTTAGGATAATA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00673.hp2 others(99): Show HG00408.hp1 HG00423.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01261.hp1 HG01433.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02040.hp1 HG02071.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02523.hp2 HG02622.hp2 HG02683.hp1 HG02738.hp1 HG02896.hp1 HG02897.hp1 HG03017.hp1 HG03098.hp2 HG03139.hp1 HG03239.hp2 HG03491.hp2 HG03654.hp2 HG03669.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG04204.hp1 NA18747.hp2 NA18941.hp1 NA18948.hp2 NA18950.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18957.hp1 NA18960.hp1 NA18962.hp2 NA18965.hp1 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp2 NA18981.hp1 NA18985.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18999.hp1 NA19000.hp2 NA19009.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19056.hp1 NA19060.hp2 NA19074.hp2 NA19077.hp1 NA19081.hp1 NA19083.hp1 NA19084.hp1 NA19085.hp2 NA19088.hp1 NA19090.hp2 NA19091.hp1 NA20300.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0001c0004 a0001c0018 others(3): Show a0001c0002 a0001c0004 a0001c0018 a0001c0019 a0001c0020 a0003c0022	a0001c0002t0001 a0001c0002t0005 a0001c0002t0008 others(12): Show a0001c0002t0001 a0001c0002t0005 a0001c0002t0008 a0001c0002t0009 a0001c0002t0010 a0001c0002t0011 a0001c0002t0012 a0001c0002t0014 a0001c0002t0015 a0001c0004t0001 a0001c0004t0003 a0001c0018t0001 a0001c0019t0016 a0001c0020t0001 a0003c0022t0001	a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0006 others(99): Show a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0037 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0043 a0001c0002t0001g0058 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0214 a0001c0002t0001g0268 a0001c0002t0001g0274 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0001g0281 a0001c0002t0001g0282 a0001c0002t0001g0283 a0001c0002t0001g0284 a0001c0002t0001g0285 a0001c0002t0001g0286 a0001c0002t0001g0287 a0001c0002t0001g0288 a0001c0002t0001g0289 a0001c0002t0001g0290 a0001c0002t0001g0291 a0001c0002t0001g0292 a0001c0002t0001g0294 a0001c0002t0001g0296 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0001g0299 a0001c0002t0001g0303 a0001c0002t0001g0304 a0001c0002t0001g0306 a0001c0002t0001g0307 a0001c0002t0001g0308 a0001c0002t0001g0309 a0001c0002t0001g0310 a0001c0002t0001g0311 a0001c0002t0001g0312 a0001c0002t0001g0313 a0001c0002t0001g0314 a0001c0002t0001g0319 a0001c0002t0001g0320 a0001c0002t0001g0321 a0001c0002t0001g0322 a0001c0002t0001g0323 a0001c0002t0005g0085 a0001c0002t0008g0280 a0001c0002t0008g0300 a0001c0002t0009g0016 a0001c0002t0009g0024 a0001c0002t0010g0020 a0001c0002t0010g0032 a0001c0002t0011g0324 a0001c0002t0012g0036 a0001c0002t0014g0262 a0001c0002t0015g0076 a0001c0004t0001g0105 a0001c0004t0001g0279 a0001c0004t0001g0293 a0001c0004t0001g0301 a0001c0004t0003g0007 a0001c0004t0003g0061 a0001c0004t0003g0062 a0001c0004t0003g0110 a0001c0004t0003g0119 a0001c0004t0003g0127 a0001c0004t0003g0184 a0001c0018t0001g0318 a0001c0019t0016g0047 a0001c0020t0001g0305 a0003c0022t0001g0084	102	324	0.3148	-184	c.129 others(21): Show c.1291+13047_1291+13230del	NEO1	ENSG00000067141.17	transcript	ENST00000261908.11	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr15	TogoVar
NEU4_chr2_241804193_241822413	241806140	GACCTCCG others(177): Show GACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0126 a0002c0003t0002g0126	1	319	0.0031	-184	c.-31 others(11): Show c.-3137_-2954del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3052		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806578	CCCCTCAG others(177): Show CCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCT CCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	1	319	0.0031	-184	c.-26 others(11): Show c.-2699_-2516del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2614		chr2	TogoVar
NFATC1_chr18_79390930_79534323	79521031	GTGTATGG others(177): Show GTGTATGGGGGTGGGAGCATCCACTGATGTGTGTCCATGTGTGTGTGGGG GCATCCGCTGATGTGTGTGTCTGTGTGTGTGTGGGGGGCGTCTGCTGATG TGTGTGTCTGTGTGTGTGTGTAGGGGGGGAGCATCCACTGATGTGTGTCC ATGTGTGTGTGGGGGCATCAGCTGATATGTGTGTC	G G	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0008 a0003c0007t0008	a0003c0007t0008g0032 a0003c0007t0008g0032	1	322	0.0031	-184	c.278 others(19): Show c.2783-6493_2783-6310del	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79521103	GTGTGTGT others(177): Show GTGTGTGTGTGGGGGGCGTCTGCTGATGTGTGTGTCTGTGTGTGTGTGTA GGGGGGGAGCATCCACTGATGTGTGTCCATGTGTGTGTGGGGGCATCAGC TGATATGTGTGTCTGTGTGTGGGGGGTGGAGCATCCACTGATGTGTGTCC ATGTGTGTGTGGGGGCATCCGCTGATGTGTGTGTC	G G	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0008 a0001c0027t0008	a0001c0027t0008g0013 a0001c0027t0008g0013	1	322	0.0031	-184	c.278 others(19): Show c.2783-6409_2783-6226del	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NMRK2_chr19_3928069_3947416	3937327	GGGGTCCG others(177): Show GGGGTCCGCCCTCCTGCAATGCCCGCTCCCCCTCCACTATTCCCCCGGGG TCCGCCCTCCTGCAATGCCCGCTCCCCCTCCACTATTCCCCCGGGGTCCG CCCTCCTGCAATGCCCGCTCCCCCTCCACTATTCCCCCGGGGTCCGCCCT CCTGCAATGCCCGCTCCCCCTCCACTATTCCCCCA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	404	0.0025	-184	c.166 others(15): Show c.166+171_166+354del	NMRK2	ENSG00000077009.14	transcript	ENST00000168977.7	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
PARL_chr3_183824271_183889880	183881694	GCTGCAGT others(177): Show GCTGCAGTGAGCTATGATAGTGCCACTGCACTTCAACCTAGGTGACAGAA CAACTCGCCTCTAAAAAATACAAAAGATACTGGGCGGGAGGATGGATTCT ACATAAACTCTGGCATAACAAAATTATTTTCTTGACCCCATCGTGAGTTA ATAGATGGTCAGTTAAAACAAAATATAATATATAC	G G	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0019 a0005c0005t0001g0019	1	358	0.0028	-184	c.125 others(17): Show c.125+2844_125+3027del	PARL	ENSG00000175193.14	transcript	ENST00000317096.9	protein_coding	1/9			chr3	TogoVar
PBX3_chr9_125742373_125972377	125780627	TGGCCGGG others(177): Show TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCT GGCCGGGCGGGGGGCTGACCACCCCCACCTCCCTCCCGGACGGGGGGCTG ACCCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGCC	T T	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0094 a0001c0001t0002g0094	1	294	0.0034	-184	c.274 others(19): Show c.274+32007_274+32190del	PBX3	ENSG00000167081.18	transcript	ENST00000373489.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
PGAM5_chr12_132705842_132727734	132718358	TGGTGTCC others(177): Show TGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGAGTGGGGTGC GTGCTGGGTGGGGGTGTCCTGGGTGGGGTGTGTGCTGGGTGGGGGGTCCT GGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGG TGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGG	T T	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0007 a0001c0008t0007	a0001c0008t0007g0158 a0001c0008t0007g0158	1	394	0.0025	-184	c.719 others(15): Show c.719+278_719+461del	PGAM5	ENSG00000247077.8	transcript	ENST00000498926.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
PLAA_chr9_26898372_26952242	26933225	GCCACTGC others(177): Show GCCACTGCACTCCAGCCTGGTGAAAGAGCAAGACTCTGTCTAAAAAAAAA AAAACCATAAAAAAGCTGCGCATGGTGGTGGGCACCTGTAATCCCAGCTA CTCTGGAGGCTGAGGCAGGAGAATCGCTTCAACCCGGGAGGCAGTCCTGG CAGAGGCTATAGTGAGCCGAGATCACAAGATCACA	G G	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0072	1	374	0.0027	-184	c.343 others(17): Show c.343+1604_343+1787del	PLAA	ENSG00000137055.15	transcript	ENST00000397292.8	protein_coding	2/13			chr9	TogoVar
PLEKHA4_chr19_48832097_48873617	48834486	GCTGAGGT others(177): Show GCTGAGGTCTGGACTCCTGGGTCTGAGGAAGTAGGGCCTGGGGGCCTGGA CTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCCGA GGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCT GGGAGCCTGGACTCCTGGGTCCGAGGAAGTAGGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0097 a0002c0002t0002g0097	1	300	0.0033	-184	c.26 others(11): Show c.2619_*2802del	PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding		2610		chr19	TogoVar
PLEKHA4_chr19_48832097_48873617	48835081	AGCCTGGA others(177): Show AGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCT GGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCCGAGGAAGT AGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGTGCTGGGAGC CTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp2 homoSapiens_chm13v2.hp1 HG03491.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0205 a0001c0001t0011g0104 a0001c0001t0001g0205 a0001c0001t0011g0104	2	300	0.0067	-184	c.20 others(11): Show c.2024_*2207del	PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding		2015		chr19	TogoVar
POLG_chr15_89311320_89339824	89325087	AGTGAGTG others(177): Show AGTGAGTGAGTGAGAGAGTGAGAGAGAGTGAGTGAGTGAGTGAGAGAGTG AGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAG TGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAG AGTGAGTGAGTGAGAGAGAGAGTGAGTGAGTGAGT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(107): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01175.hp2 HG01192.hp1 HG01256.hp2 HG01257.hp1 HG01496.hp2 HG01891.hp2 HG01928.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02015.hp2 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02083.hp1 HG02129.hp2 HG02155.hp2 HG02165.hp1 HG02273.hp2 HG02293.hp1 HG02486.hp2 HG02523.hp2 HG02602.hp2 HG02683.hp1 HG02738.hp2 HG02886.hp1 HG03239.hp1 HG03239.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG04184.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp1 NA18612.hp1 NA18942.hp1 NA18946.hp2 NA18947.hp2 NA18949.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18967.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18978.hp1 NA18979.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp2 NA18984.hp1 NA18985.hp2 NA18992.hp1 NA18994.hp1 NA18994.hp2 NA19002.hp2 NA19004.hp2 NA19005.hp1 NA19054.hp1 NA19056.hp1 NA19060.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19079.hp1 NA19084.hp1 NA19085.hp1 NA19086.hp2 NA19088.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0006 a0011 a0013 a0014 a0017	a0001c0001 a0001c0017 a0002c0002 others(8): Show a0001c0001 a0001c0017 a0002c0002 a0003c0005 a0004c0004 a0004c0021 a0006c0007 a0011c0016 a0013c0022 a0014c0024 a0017c0027	a0001c0001t0002 a0001c0017t0002 a0002c0002t0002 others(8): Show a0001c0001t0002 a0001c0017t0002 a0002c0002t0002 a0003c0005t0002 a0004c0004t0002 a0004c0021t0002 a0006c0007t0002 a0011c0016t0002 a0013c0022t0002 a0014c0024t0002 a0017c0027t0002	a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0007 others(49): Show a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 a0001c0001t0002g0015 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0038 a0001c0001t0002g0040 a0001c0001t0002g0044 a0001c0001t0002g0185 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0212 a0001c0001t0002g0214 a0001c0001t0002g0217 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0227 a0001c0001t0002g0232 a0001c0001t0002g0239 a0001c0001t0002g0245 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0256 a0001c0017t0002g0225 a0002c0002t0002g0043 a0003c0005t0002g0026 a0004c0004t0002g0023 a0004c0004t0002g0211 a0004c0004t0002g0213 a0004c0004t0002g0226 a0004c0004t0002g0236 a0004c0021t0002g0218 a0006c0007t0002g0039 a0006c0007t0002g0230 a0011c0016t0002g0224 a0013c0022t0002g0254 a0014c0024t0002g0228 a0017c0027t0002g0240	110	398	0.2764	-184	c.194 others(17): Show c.1949+179_1949+362del	POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22			chr15	TogoVar
PPP1R9A_chr7_94902594_95301400	95072684	TATATATT others(177): Show TATATATTATGTAATATAATATATAATATATTATATGTATATTTATTACA TATAATATAATATATAATATTATATTAAATATATATATTAAATATATATA TTTATATATTATATTTATAATTATTATATATAATAATTATTATATATATA ATAATTATTATATATAATATAAGTTATATAATATA	T T	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0003 a0004c0005t0003	a0004c0005t0003g0153 a0004c0005t0003g0153	1	290	0.0035	-184	c.139 others(21): Show c.1396-38569_1396-38386del	PPP1R9A	ENSG00000158528.12	transcript	ENST00000433360.6	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
RBM34_chr1_235126183_235166250	235135084	ACCCAGGC others(177): Show ACCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCAATGAAACCTCTGCC TCCCAGGTTCAAGTGATTCTCCTTCCTCGGCCTCCCAAGTAGCTGGGATT ACAGGTATGAGCCACCACATCTGGCTAATTTTTAAATTTTTTGTATTTTT TTTTTTCCCCCTTGAGATGGAGTCTTGCTCTGTGG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00733.hp2 HG00738.hp2 others(35): Show HG00642.hp2 HG00733.hp2 HG00738.hp2 HG01070.hp2 HG01071.hp1 HG01099.hp1 HG01109.hp1 HG01255.hp1 HG01261.hp1 HG01361.hp1 HG01891.hp2 HG02027.hp1 HG02109.hp1 HG02257.hp2 HG02258.hp2 HG02451.hp2 HG02572.hp2 HG02622.hp1 HG02647.hp1 HG02735.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG03041.hp2 HG03453.hp2 HG03540.hp1 HG03654.hp1 HG04115.hp1 HG04115.hp2 NA18943.hp1 NA18954.hp2 NA18978.hp2 NA18995.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0011 a0001c0002 a0001c0004 a0001c0011	a0001c0002t0002 a0001c0004t0002 a0001c0011t0002 a0001c0002t0002 a0001c0004t0002 a0001c0011t0002	a0001c0002t0002g0037 a0001c0002t0002g0286 a0001c0002t0002g0287 others(34): Show a0001c0002t0002g0037 a0001c0002t0002g0286 a0001c0002t0002g0287 a0001c0002t0002g0288 a0001c0002t0002g0289 a0001c0002t0002g0290 a0001c0002t0002g0291 a0001c0002t0002g0292 a0001c0002t0002g0293 a0001c0002t0002g0294 a0001c0002t0002g0295 a0001c0002t0002g0297 a0001c0002t0002g0299 a0001c0002t0002g0300 a0001c0002t0002g0301 a0001c0002t0002g0302 a0001c0002t0002g0303 a0001c0002t0002g0304 a0001c0002t0002g0305 a0001c0002t0002g0306 a0001c0002t0002g0307 a0001c0002t0002g0308 a0001c0002t0002g0309 a0001c0002t0002g0310 a0001c0002t0002g0311 a0001c0002t0002g0312 a0001c0002t0002g0313 a0001c0002t0002g0314 a0001c0002t0002g0315 a0001c0002t0002g0316 a0001c0002t0002g0317 a0001c0002t0002g0318 a0001c0002t0002g0319 a0001c0002t0002g0321 a0001c0004t0002g0296 a0001c0004t0002g0298 a0001c0011t0002g0320	38	388	0.0979	-184	c.100 others(17): Show c.1008+384_1008+567del	RBM34	ENSG00000188739.15	transcript	ENST00000408888.8	protein_coding	10/10			chr1	TogoVar
RHOF_chr12_121772754_121798688	121785466	GCCCAGGC others(177): Show GCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGTAAGCTACGCC TCCTGGGTTCAAGTGGTTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGACT ACAGGCAGGTGCCACCATGCCTGGCTAATTTTTTTTGTATTTTTATTATT TTATTTTATTTTTGAGACGGAGTCTCACTCTGTCA	G G	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0127 a0001c0001t0043g0127	1	386	0.0026	-184	c.227 others(17): Show c.227-4458_227-4275del	RHOF	ENSG00000139725.8	transcript	ENST00000267205.7	protein_coding	2/4			chr12	TogoVar
RNF126_chr19_642526_668214	650009	GCCCAGGC others(177): Show GCCCAGGCTGGGGATGGGGACAGGCACCCCCACCCACTCACCAGGGGCCC AGGCTGGGGATGGGGACAGGCACCCCCTCCTACTCACCAGGGGCCCAGGC TGGGGATGGGGACAGGCACCCCCTCCTACTCACCAGGGACCCTGGCTGGG GATGGGGACAGGCACCCCCACCCACTCACCAGGGA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00735.hp1 HG01109.hp1 others(21): Show HG00639.hp2 HG00735.hp1 HG01109.hp1 HG01891.hp1 HG02280.hp2 HG02622.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG03041.hp2 HG03209.hp2 HG03491.hp2 HG03492.hp1 NA18965.hp1 NA18973.hp2 NA18979.hp2 NA18980.hp2 NA18995.hp2 NA19030.hp1 NA19079.hp2 NA19089.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0002t0001 a0001c0002t0003 a0001c0008t0003	a0001c0001t0001g0084 a0001c0001t0003g0054 a0001c0001t0003g0055 others(20): Show a0001c0001t0001g0084 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0060 a0001c0001t0003g0071 a0001c0001t0003g0096 a0001c0001t0003g0099 a0001c0001t0003g0114 a0001c0001t0003g0195 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0278 a0001c0001t0003g0351 a0001c0001t0008g0037 a0001c0002t0001g0276 a0001c0002t0003g0014 a0001c0002t0003g0083 a0001c0002t0003g0397 a0001c0008t0003g0239	24	434	0.0553	-184	c.506 others(14): Show c.506+41_506+224del	RNF126	ENSG00000070423.18	transcript	ENST00000292363.10	protein_coding	5/8			chr19	TogoVar
RNF213_chr17_80255852_80403794	80315585	GTGGTGGT others(177): Show GTGGTGGTGGTGGTGGTACTGGAGGTGATGGTGGTCCGTGGAGGTGATGG TGGTGGTGGTAATGGAGGTGATGGTGGTGGTACTGGAGGTGATGGTGGTG GTGAAGGTGATGGTAGAGGTAATGGAAGTGATGGTGGAGGTACTGGAGGT GATGGTGGTGGTGGTGGAGGTGACAGTGGTGATGC	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00597.hp1 HG00609.hp2 others(60): Show HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00639.hp2 HG00738.hp2 HG00741.hp2 HG01071.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01243.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01952.hp2 HG02040.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02723.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03130.hp1 HG03130.hp2 HG03486.hp2 HG03579.hp1 HG03831.hp1 HG04228.hp1 HG06807.hp1 NA18906.hp2 NA18944.hp1 NA18946.hp1 NA18952.hp2 NA18954.hp1 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp2 NA18970.hp2 NA18973.hp1 NA18986.hp1 NA19004.hp1 NA19005.hp2 NA19030.hp2 NA19060.hp1 NA19065.hp2 NA19081.hp1 NA19082.hp1 NA20300.hp2 NA21309.hp1	a0001 a0002 a0003 others(30): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0011 a0013 a0014 a0017 a0019 a0020 a0023 a0024 a0025 a0032 a0038 a0039 a0040 a0051 a0052 a0053 a0054 a0062 a0069 a0074 a0089 a0091 a0097 a0103	a0001c0001 a0001c0004 a0001c0006 others(41): Show a0001c0001 a0001c0004 a0001c0006 a0001c0021 a0001c0029 a0001c0094 a0001c0124 a0002c0002 a0002c0039 a0002c0099 a0003c0005 a0003c0030 a0003c0077 a0004c0009 a0005c0105 a0006c0045 a0007c0008 a0008c0013 a0010c0138 a0011c0036 a0011c0037 a0013c0012 a0014c0118 a0017c0019 a0019c0142 a0020c0031 a0023c0088 a0024c0026 a0025c0038 a0032c0022 a0038c0146 a0039c0147 a0040c0104 a0051c0135 a0052c0134 a0053c0136 a0054c0137 a0062c0055 a0069c0065 a0074c0068 a0089c0115 a0091c0113 a0097c0042 a0103c0120	a0001c0001t0029 a0001c0004t0007 a0001c0004t0011 others(51): Show a0001c0001t0029 a0001c0004t0007 a0001c0004t0011 a0001c0004t0014 a0001c0006t0011 a0001c0021t0001 a0001c0021t0002 a0001c0029t0007 a0001c0094t0001 a0001c0124t0002 a0002c0002t0005 a0002c0002t0009 a0002c0039t0014 a0002c0099t0058 a0003c0005t0007 a0003c0005t0011 a0003c0005t0080 a0003c0030t0007 a0003c0077t0023 a0004c0009t0005 a0004c0009t0009 a0004c0009t0019 a0005c0105t0021 a0006c0045t0011 a0007c0008t0008 a0008c0013t0028 a0008c0013t0044 a0010c0138t0012 a0011c0036t0042 a0011c0036t0043 a0011c0037t0020 a0013c0012t0049 a0014c0118t0057 a0017c0019t0024 a0019c0142t0030 a0020c0031t0012 a0023c0088t0013 a0024c0026t0007 a0025c0038t0006 a0032c0022t0012 a0038c0146t0048 a0039c0147t0045 a0040c0104t0008 a0051c0135t0078 a0052c0134t0008 a0053c0136t0025 a0054c0137t0016 a0062c0055t0005 a0069c0065t0025 a0074c0068t0019 a0089c0115t0006 a0091c0113t0021 a0097c0042t0008 a0103c0120t0050	a0001c0001t0029g0079 a0001c0004t0007g0047 a0001c0004t0007g0268 others(60): Show a0001c0001t0029g0079 a0001c0004t0007g0047 a0001c0004t0007g0268 a0001c0004t0011g0048 a0001c0004t0014g0046 a0001c0006t0011g0051 a0001c0021t0001g0063 a0001c0021t0001g0080 a0001c0021t0002g0069 a0001c0029t0007g0039 a0001c0094t0001g0162 a0001c0124t0002g0068 a0002c0002t0005g0073 a0002c0002t0009g0042 a0002c0039t0014g0240 a0002c0099t0058g0255 a0003c0005t0007g0058 a0003c0005t0011g0253 a0003c0005t0080g0052 a0003c0030t0007g0037 a0003c0030t0007g0049 a0003c0077t0023g0056 a0004c0009t0005g0273 a0004c0009t0009g0043 a0004c0009t0009g0265 a0004c0009t0019g0272 a0005c0105t0021g0270 a0006c0045t0011g0202 a0007c0008t0008g0078 a0007c0008t0008g0286 a0008c0013t0028g0241 a0008c0013t0028g0250 a0008c0013t0044g0236 a0010c0138t0012g0005 a0011c0036t0042g0281 a0011c0036t0043g0280 a0011c0037t0020g0282 a0011c0037t0020g0283 a0013c0012t0049g0217 a0014c0118t0057g0167 a0017c0019t0024g0017 a0017c0019t0024g0034 a0017c0019t0024g0278 a0019c0142t0030g0178 a0020c0031t0012g0019 a0023c0088t0013g0165 a0024c0026t0007g0140 a0025c0038t0006g0007 a0032c0022t0012g0170 a0038c0146t0048g0172 a0039c0147t0045g0175 a0040c0104t0008g0023 a0051c0135t0078g0016 a0052c0134t0008g0014 a0053c0136t0025g0011 a0054c0137t0016g0015 a0062c0055t0005g0076 a0069c0065t0025g0029 a0074c0068t0019g0252 a0089c0115t0006g0035 a0091c0113t0021g0031 a0097c0042t0008g0208 a0103c0120t0050g0249	63	292	0.2158	-184	c.281 others(19): Show c.2812-1586_2812-1403del	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
SCNN1D_chr1_1275436_1297025	1288273	TCCCCCGA others(177): Show TCCCCCGAGTCTCTGCTCCGTCCCGTGTCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGT CCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCC GTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCC	T T	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0268 a0001c0001t0011g0268	1	290	0.0035	-184	c.166 others(17): Show c.1662+240_1662+423del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDK1_chr7_3296252_4274000	4194222	ACACGTAT others(177): Show ACACGTATGTGTATACATGTATAGATATATGTATGCACGTATGTGTATAC ATGTATAGATATATGTATGCACGTATGTGTATACATGTATACATATATGT ATGCACGTATGTGTATACATGTATAGATATATGTATGCACGTATGTGTAT ACATGTATGTGTATACATGTATACATATATGTATG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02976.hp1 HG03041.hp1 others(1): Show HG01243.hp2 HG02976.hp1 HG03041.hp1 NA20129.hp1	a0001 a0021 a0034 a0001 a0021 a0034	a0001c0037 a0001c0071 a0021c0045 others(1): Show a0001c0037 a0001c0071 a0021c0045 a0034c0081	a0001c0037t0002 a0001c0071t0057 a0021c0045t0015 others(1): Show a0001c0037t0002 a0001c0071t0057 a0021c0045t0015 a0034c0081t0008	a0001c0037t0002g0077 a0001c0071t0057g0031 a0021c0045t0015g0046 others(1): Show a0001c0037t0002g0077 a0001c0071t0057g0031 a0021c0045t0015g0046 a0034c0081t0008g0075	4	116	0.0345	-184	c.509 others(21): Show c.5099-11653_5099-11470del	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	35/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SHTN1_chr10_116876477_117010187	116980866	ATGAGATT others(177): Show ATGAGATTATATCACCAATGTCCAGAAGTTTTATTAGTATACCAGGACCA CTTAAACAAGAATAGACAATTTTATTGAAGCCACATCCCAAAATAATCCT TGAAAACTAGTCCATAAAATAGGTGAATGTGTACATGTAAAGATATAGTT CTGAAAATAATTACATTTACAGGCTGGGCGTGGTG	A A	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0204 a0001c0001t0005g0204	1	292	0.0034	-184	c.59- others(15): Show c.59-1742_59-1559del	SHTN1	ENSG00000187164.20	transcript	ENST00000355371.9	protein_coding	1/16			chr10	TogoVar
SLC30A9_chr4_41985530_42095461	42021918	TTTTTTTT others(177): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTT GCCCAGGCCGGACTGCGGACTGCAGTGGCACAATCTCGGCTCACTGCAAG CTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACCACGCCCGGCTAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00735.hp1 others(59): Show HG00140.hp1 HG00140.hp2 HG00735.hp1 HG01074.hp1 HG01081.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01258.hp2 HG01516.hp2 HG01891.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02145.hp1 HG02559.hp1 HG02572.hp1 HG02622.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03490.hp1 HG03492.hp1 HG03579.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG04199.hp1 HG06807.hp2 NA18906.hp1 NA18950.hp1 NA18950.hp2 NA18973.hp2 NA18995.hp2 NA18998.hp1 NA19007.hp2 NA19066.hp2 NA19076.hp1 NA19076.hp2 NA19078.hp2 NA19084.hp2 NA19090.hp1 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0004 a0002c0002 a0002c0009 others(2): Show a0001c0004 a0002c0002 a0002c0009 a0002c0010 a0005c0008	a0001c0004t0005 a0001c0004t0013 a0001c0004t0015 others(15): Show a0001c0004t0005 a0001c0004t0013 a0001c0004t0015 a0001c0004t0016 a0001c0004t0020 a0001c0004t0024 a0001c0004t0025 a0001c0004t0026 a0002c0002t0002 a0002c0002t0005 a0002c0002t0008 a0002c0002t0017 a0002c0002t0018 a0002c0002t0019 a0002c0002t0021 a0002c0009t0002 a0002c0010t0002 a0005c0008t0015	a0001c0004t0005g0114 a0001c0004t0005g0115 a0001c0004t0005g0116 others(59): Show a0001c0004t0005g0114 a0001c0004t0005g0115 a0001c0004t0005g0116 a0001c0004t0005g0117 a0001c0004t0005g0118 a0001c0004t0013g0146 a0001c0004t0013g0147 a0001c0004t0015g0003 a0001c0004t0016g0151 a0001c0004t0020g0113 a0001c0004t0024g0149 a0001c0004t0025g0150 a0001c0004t0026g0134 a0002c0002t0002g0013 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0098 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0104 a0002c0002t0002g0108 a0002c0002t0002g0109 a0002c0002t0002g0110 a0002c0002t0002g0112 a0002c0002t0005g0072 a0002c0002t0005g0103 a0002c0002t0005g0106 a0002c0002t0008g0093 a0002c0002t0008g0096 a0002c0002t0008g0097 a0002c0002t0008g0099 a0002c0002t0017g0102 a0002c0002t0018g0080 a0002c0002t0019g0079 a0002c0002t0021g0105 a0002c0009t0002g0065 a0002c0010t0002g0107 a0005c0008t0015g0004	62	164	0.3781	-184	c.435 others(15): Show c.435-914_435-731del	SLC30A9	ENSG00000014824.14	transcript	ENST00000264451.12	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC9A3_chr5_465456_529449	467399	GGGCGCCC others(177): Show GGGCGCCCTCCTGGTCCCCTCCTGTCTGACATCCCCTCAGCCTAGAGGGC GCCCTCCTGGTCCCCTCCTGTCTGACATCCCCTCAGCCTAGAGGGTGCCT TCCTGATCCCCTCATGTCTGACATCCCCTCAGCCTGGAGGGCGCCCTCCT GGTCCCCTCCTGTCTGACATCCCCTCAGCCTGGAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp2 HG04115.hp2 NA20805.hp1 others(1): Show HG01517.hp2 HG04115.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0003 a0001c0009 a0001c0019 a0001c0003 a0001c0009 a0001c0019	a0001c0003t0009 a0001c0009t0009 a0001c0019t0009 a0001c0003t0009 a0001c0009t0009 a0001c0019t0009	a0001c0003t0009g0007 a0001c0009t0009g0081 a0001c0009t0009g0090 others(1): Show a0001c0003t0009g0007 a0001c0009t0009g0081 a0001c0009t0009g0090 a0001c0019t0009g0008	4	218	0.0184	-184	c.57 others(11): Show c.5796_*5979del	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding		3056		chr5	TogoVar
SLC9A3_chr5_465456_529449	467491	GGGTGCCT others(177): Show GGGTGCCTTCCTGATCCCCTCATGTCTGACATCCCCTCAGCCTGGAGGGC GCCCTCCTGGTCCCCTCCTGTCTGACATCCCCTCAGCCTGGATGGCGCCC TCCTGGTCCCCTCCTGTCTGACATCCCCTCAGCCTAGAGGGCGCCCTCCT GGTCCCCTCCTGTCTGACATCCCCTCAGCCTGGAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 NA18943.hp2 NA19074.hp2 HG00099.hp1 NA18943.hp2 NA19074.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0006 a0002c0004t0015 a0002c0004t0006 a0002c0004t0015	a0002c0004t0006g0173 a0002c0004t0006g0209 a0002c0004t0015g0037 a0002c0004t0006g0173 a0002c0004t0006g0209 a0002c0004t0015g0037	3	218	0.0138	-184	c.57 others(11): Show c.5704_*5887del	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding		2964		chr5	TogoVar
SLC9A3_chr5_465456_529449	467696	CTGTCTGA others(177): Show CTGTCTGACATCCCCTCAGCCTAGAGGGTGCCCTCCTGATCCCCTCATGT CTGACATCCCCTCAGCCTGGATGGCGCCCTCCTGGTCCCCTCCTGTCTGA CATCCCCTCAGCCTAGAGGGTGCCCTCCTGGTCCCCTCATGTCTGACATC CCCTCAGCCTAGAGGGCGCCCTCCTGATCCCCTCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 HG02451.hp1 HG02559.hp2 HG01361.hp2 HG02451.hp1 HG02559.hp2	a0002 a0002	a0002c0004 a0002c0005 a0002c0004 a0002c0005	a0002c0004t0015 a0002c0004t0025 a0002c0005t0006 a0002c0004t0015 a0002c0004t0025 a0002c0005t0006	a0002c0004t0015g0133 a0002c0004t0025g0143 a0002c0005t0006g0214 a0002c0004t0015g0133 a0002c0004t0025g0143 a0002c0005t0006g0214	3	218	0.0138	-184	c.54 others(11): Show c.5499_*5682del	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding		2759		chr5	TogoVar
SLC9A3_chr5_465456_529449	468020	GTCTGACA others(177): Show GTCTGACATCCCCTCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCGTATCT GACATCCCCTCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCCTGTCTGACA TCCCCTCAGCCTGGAGGGCGCCCTCCTGATCCCCTCCTGTCTGACATCCC CTCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCGTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG01071.hp2 HG01074.hp1 others(2): Show HG00735.hp2 HG01071.hp2 HG01074.hp1 HG01243.hp1 HG03688.hp2	a0001 a0001	a0001c0003 a0001c0030 a0001c0003 a0001c0030	a0001c0003t0008 a0001c0030t0008 a0001c0003t0008 a0001c0030t0008	a0001c0003t0008g0038 a0001c0003t0008g0039 a0001c0003t0008g0112 others(2): Show a0001c0003t0008g0038 a0001c0003t0008g0039 a0001c0003t0008g0112 a0001c0003t0008g0152 a0001c0030t0008g0150	5	218	0.0229	-184	c.51 others(11): Show c.5175_*5358del	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding		2435		chr5	TogoVar
SPAG16_chr2_213279464_214415501	213980268	TTCTCTAT others(177): Show TTCTCTATATATATAGAATATATGTGTGTATATATATTCTCTATATATAT AGAATATATGTGTGTATATATATTCTCTATATATATAGAATATATGTGTG TATATATATTCTCTATATATATAGAATATATGTGTGTATATATATTCTAT ATATATATAGAATATATGTGTGTATATATATTCTA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01256.hp2 HG01361.hp2 others(6): Show HG00735.hp2 HG01256.hp2 HG01361.hp2 HG02559.hp1 HG03225.hp2 HG03471.hp1 HG03490.hp1 HG03831.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0015 a0001c0001t0001g0027 a0001c0001t0001g0030 others(6): Show a0001c0001t0001g0015 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008	9	86	0.1047	-184	c.140 others(21): Show c.1401-33681_1401-33498del	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar

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