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	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
GALNT9_chr12_132191372_132334589	132232692	CTGCCACA others(185): Show CTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGT GCCACACACTCGATGGGGCGACAGAGGAGACAGTGTGGAGTCCCTACTGC CACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCA CACACTCGATGGGGCGACAGAGGAGACAGTGTGGAGTCCCTAG	C C	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0106 a0001c0004t0001g0106	1	183	0.0055	-192	c.107 others(21): Show c.1077+15026_1077+15217del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GALNT9_chr12_132191372_132334589	132233866	CAGAGGAG others(185): Show CAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACA GAGGAGACAGTGTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGA GGAGACAGCGTGGAGTCCCTGGTGCCACACACTCGATGGGGCGACAGAGG AGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGCGTGAG	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02148.hp2 HG03209.hp2 others(1): Show HG01167.hp1 HG02148.hp2 HG03209.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0014 others(1): Show a0001c0001 a0001c0004 a0001c0014 a0001c0029	a0001c0001t0011 a0001c0004t0001 a0001c0014t0003 others(1): Show a0001c0001t0011 a0001c0004t0001 a0001c0014t0003 a0001c0029t0003	a0001c0001t0011g0050 a0001c0004t0001g0016 a0001c0014t0003g0153 others(1): Show a0001c0001t0011g0050 a0001c0004t0001g0016 a0001c0014t0003g0153 a0001c0029t0003g0107	4	183	0.0219	-192	c.107 others(21): Show c.1077+13852_1077+14043del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GALNT9_chr12_132191372_132334589	132234418	AGTGCCAC others(185): Show AGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCATGGAGTCCCTAG TGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTG CCACACACTCGATGGGGCGACAGAGGAGACAGTGTGGAGCCCCTAGTGCC ACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02717.hp2 HG02976.hp1 HG02109.hp1 HG02717.hp2 HG02976.hp1	a0001 a0001	a0001c0014 a0001c0019 a0001c0014 a0001c0019	a0001c0014t0003 a0001c0019t0003 a0001c0014t0003 a0001c0019t0003	a0001c0014t0003g0074 a0001c0014t0003g0146 a0001c0019t0003g0145 a0001c0014t0003g0074 a0001c0014t0003g0146 a0001c0019t0003g0145	3	183	0.0164	-192	c.107 others(21): Show c.1077+13300_1077+13491del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GALNT9_chr12_132191372_132334589	132234605	TCCCTGGT others(185): Show TCCCTGGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTC CCTAGTGCCACACACTCGATGGCGTGAGAGAGGAGACAGCGTGGAGTCCC TAGTGCCACACACTCGATGGCGTGAGAGAGGAGACAGCGTGGAGTCCCTA GTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGC	T T	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0002 a0002	a0002c0032 a0002c0032	a0002c0032t0002 a0002c0032t0002	a0002c0032t0002g0167 a0002c0032t0002g0167	1	183	0.0055	-192	c.107 others(21): Show c.1077+13113_1077+13304del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GNAL_chr18_11684264_11890685	11804105	GTGGAACA others(185): Show GTGGAACACGGAGATACTGTGTAGTGGTGAAGTACAGGTGCAGTTTGGAT GGAACACGGAGATACTGTGTAGTGGTGAAGTACAGGTGCGGTTTGGATGG AACACGGAGATACTGTGTAGTGGTGAAGTACAGGTGCGGTTTGGATGGAA CACGGAGATACTGTGTAGTGGTGAAGTACAGGTGCGGTTTGGA	G G	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02055.hp1 HG02145.hp2 others(8): Show HG01952.hp2 HG02055.hp1 HG02145.hp2 HG02486.hp1 HG02630.hp1 HG02922.hp1 HG03579.hp1 HG06807.hp1 NA18906.hp2 NA19043.hp2 NA19240.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0003 a0001c0001t0031 a0001c0001t0154 others(7): Show a0001c0001t0003 a0001c0001t0031 a0001c0001t0154 a0001c0001t0166 a0001c0001t0171 a0001c0001t0176 a0001c0001t0184 a0001c0001t0185 a0004c0004t0034 a0004c0004t0035	a0001c0001t0003g0069 a0001c0001t0003g0093 a0001c0001t0031g0011 others(8): Show a0001c0001t0003g0069 a0001c0001t0003g0093 a0001c0001t0031g0011 a0001c0001t0154g0092 a0001c0001t0166g0008 a0001c0001t0171g0077 a0001c0001t0176g0016 a0001c0001t0184g0078 a0001c0001t0185g0076 a0004c0004t0034g0003 a0004c0004t0035g0004	11	248	0.0444	-192	c.625 others(19): Show c.625-20772_625-20581del		GNAL	ENSG00000141404.17	transcript	ENST00000334049.11	protein_coding	4/11					INFO_REALIGN_3_PRIME	chr18	TogoVar
GNAL_chr18_11747085_11890685	11804105	GTGGAACA others(185): Show GTGGAACACGGAGATACTGTGTAGTGGTGAAGTACAGGTGCAGTTTGGAT GGAACACGGAGATACTGTGTAGTGGTGAAGTACAGGTGCGGTTTGGATGG AACACGGAGATACTGTGTAGTGGTGAAGTACAGGTGCGGTTTGGATGGAA CACGGAGATACTGTGTAGTGGTGAAGTACAGGTGCGGTTTGGA	G G	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02055.hp2 HG02145.hp1 others(8): Show HG01952.hp1 HG02055.hp2 HG02145.hp1 HG02486.hp2 HG02630.hp2 HG02922.hp2 HG03579.hp2 HG06807.hp2 NA18906.hp2 NA19043.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0035 a0001c0001t0041 others(7): Show a0001c0001t0003 a0001c0001t0035 a0001c0001t0041 a0001c0001t0147 a0001c0001t0152 a0001c0001t0164 a0001c0001t0166 a0001c0003t0088 a0001c0003t0169 a0001c0003t0170	a0001c0001t0003g0068 a0001c0001t0003g0072 a0001c0001t0035g0073 others(8): Show a0001c0001t0003g0068 a0001c0001t0003g0072 a0001c0001t0035g0073 a0001c0001t0041g0067 a0001c0001t0147g0074 a0001c0001t0152g0258 a0001c0001t0164g0066 a0001c0001t0166g0071 a0001c0003t0088g0065 a0001c0003t0169g0063 a0001c0003t0170g0064	11	284	0.0387	-192	c.394 others(19): Show c.394-20772_394-20581del		GNAL	ENSG00000141404.17	transcript	ENST00000423027.8	protein_coding	4/11					INFO_REALIGN_3_PRIME	chr18	TogoVar
GRIN2B_chr12_13532337_13986602	13934663	ATCTGGCC others(185): Show ATCTGGCCATCACGTACAACTTCATCACTGGCAGGAAGCCAAGACCCCAA TCCACATGCTGAGTCCTGACGCCTGGCTTCCACTTGCTGTTGCACTCACT CCTCAGGAGTGATGCTCACCAACACTCTATATGGAAAGCATGGCTCCAAG TTCTGATGTCAGCAAAGCCATGTGTGCTCATACATCCTCAGCC	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02257.hp1 HG02622.hp2 others(4): Show HG02109.hp1 HG02257.hp1 HG02622.hp2 HG03139.hp1 HG03471.hp1 NA19030.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0001c0006 a0001c0011 others(3): Show a0001c0003 a0001c0006 a0001c0011 a0001c0023 a0001c0036 a0003c0037	a0001c0003t0012 a0001c0006t0123 a0001c0011t0008 others(3): Show a0001c0003t0012 a0001c0006t0123 a0001c0011t0008 a0001c0023t0060 a0001c0036t0026 a0003c0037t0064	a0001c0003t0012g0167 a0001c0006t0123g0156 a0001c0011t0008g0144 others(4): Show a0001c0003t0012g0167 a0001c0006t0123g0156 a0001c0011t0008g0144 a0001c0011t0008g0172 a0001c0023t0060g0187 a0001c0036t0026g0110 a0003c0037t0064g0173	7	194	0.0361	-192	c.-19 others(19): Show c.-19+45073_-19+45264del		GRIN2B	ENSG00000273079.7	transcript	ENST00000609686.4	protein_coding	2/13						chr12	TogoVar
GUCA2A_chr1_42157690_42169745	42167173	TGTGTGTG others(185): Show TGTGTGTGTATACACTGAGGTGTGTGTGAGTGCTGACATGTGTGTATACA CTGAGGAGCGTGTGTGTGCTGAGGTATGTGTGCGCTGATGTGTGTGTATA CACTGAGGTGCGTGTGTGTGCTGAGGTGTGTGTGTGCTGACATGTGTGTA TACACTGAGGTGCGTGTATGTGCTGAGGTGTGTGAGTGCTGAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG01081.hp1 HG01433.hp1 others(2): Show HG00642.hp1 HG01081.hp1 HG01433.hp1 HG02109.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	5	436	0.0115	-192	c.-26 others(11): Show c.-2653_-2462del		GUCA2A	ENSG00000197273.4	transcript	ENST00000357001.3	protein_coding					2429		chr1	TogoVar
IBA57_chr1_228160804_228187257	228174320	GCTGTGGG others(185): Show GCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGC TGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTG TGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTG GGCGTGGCTCGCTGTGGGCGTGGCTCGCTGTGGGCGTGGCTCC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG01167.hp2 others(38): Show HG00099.hp1 HG00140.hp1 HG01167.hp2 HG01257.hp1 HG01258.hp1 HG01358.hp2 HG01934.hp1 HG02027.hp1 HG02056.hp1 HG02071.hp2 HG02132.hp1 HG02165.hp1 HG02683.hp2 HG02698.hp1 HG02735.hp1 HG03209.hp1 HG03491.hp2 HG03942.hp1 NA18943.hp1 NA18963.hp2 NA18971.hp1 NA18971.hp2 NA18979.hp2 NA18981.hp1 NA18982.hp2 NA18986.hp2 NA18995.hp2 NA19000.hp2 NA19002.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19075.hp2 NA19085.hp1 NA19090.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0006 a0001c0001 a0002c0002 a0005c0006	a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 others(22): Show a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0020 a0001c0001t0025 a0001c0001t0033 a0001c0001t0053 a0001c0001t0064 a0001c0001t0065 a0001c0001t0096 a0001c0001t0120 a0002c0002t0001 a0002c0002t0003 a0002c0002t0014 a0002c0002t0020 a0002c0002t0027 a0002c0002t0029 a0002c0002t0042 a0002c0002t0062 a0002c0002t0089 a0002c0002t0117 a0002c0002t0154 a0005c0006t0084	a0001c0001t0005g0109 a0001c0001t0005g0110 a0001c0001t0009g0018 others(32): Show a0001c0001t0005g0109 a0001c0001t0005g0110 a0001c0001t0009g0018 a0001c0001t0009g0198 a0001c0001t0010g0039 a0001c0001t0014g0018 a0001c0001t0015g0116 a0001c0001t0020g0018 a0001c0001t0025g0203 a0001c0001t0033g0048 a0001c0001t0053g0122 a0001c0001t0064g0039 a0001c0001t0065g0102 a0001c0001t0096g0108 a0001c0001t0120g0114 a0002c0002t0001g0003 a0002c0002t0001g0005 a0002c0002t0003g0003 a0002c0002t0003g0005 a0002c0002t0003g0078 a0002c0002t0003g0084 a0002c0002t0003g0126 a0002c0002t0003g0147 a0002c0002t0003g0148 a0002c0002t0014g0003 a0002c0002t0020g0003 a0002c0002t0027g0003 a0002c0002t0027g0005 a0002c0002t0029g0003 a0002c0002t0042g0005 a0002c0002t0062g0005 a0002c0002t0089g0200 a0002c0002t0117g0003 a0002c0002t0154g0146 a0005c0006t0084g0018	41	416	0.0986	-192	c.342 others(15): Show c.342-368_342-177del		IBA57	ENSG00000181873.13	transcript	ENST00000366711.4	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr1	TogoVar
IQGAP2_chr5_76398285_76713132	76699719	TTCTCTCT others(185): Show TTCTCTCTCTCTCTCTCTCACTCTCACTCTCGTGCTCTCTCTCTCTCCAT ATATAGTTCATTTGCTTCAGGCTTCTTTCTGTTTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCTCTCACTCTCGTGCTCTCTCTCTCTCC ATATATAGTTCATTTGCTTCAGGCTTCTTTCTGTTTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00639.hp2 HG01099.hp2 others(25): Show HG00558.hp2 HG00639.hp2 HG01099.hp2 HG02129.hp1 HG02135.hp1 HG02165.hp2 HG02647.hp2 HG02897.hp2 HG02922.hp1 HG02976.hp1 HG03195.hp2 HG03831.hp1 HG04184.hp1 NA18941.hp1 NA18941.hp2 NA18957.hp1 NA18968.hp2 NA18979.hp1 NA18983.hp1 NA18985.hp2 NA18988.hp2 NA18995.hp1 NA18998.hp1 NA19007.hp1 NA19054.hp2 NA19068.hp1 NA19068.hp2 NA19085.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0007 a0011 a0023	a0001c0002 a0001c0003 a0001c0042 others(8): Show a0001c0002 a0001c0003 a0001c0042 a0002c0001 a0003c0004 a0003c0015 a0005c0012 a0007c0010 a0007c0031 a0011c0025 a0023c0046	a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 others(15): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0003t0002 a0001c0003t0005 a0001c0042t0002 a0002c0001t0002 a0002c0001t0003 a0002c0001t0005 a0002c0001t0010 a0003c0004t0002 a0003c0015t0002 a0005c0012t0002 a0005c0012t0005 a0007c0010t0002 a0007c0031t0008 a0011c0025t0005 a0023c0046t0002	a0001c0002t0002g0145 a0001c0002t0002g0151 a0001c0002t0003g0205 others(25): Show a0001c0002t0002g0145 a0001c0002t0002g0151 a0001c0002t0003g0205 a0001c0002t0005g0027 a0001c0002t0005g0030 a0001c0002t0005g0031 a0001c0002t0005g0052 a0001c0002t0005g0221 a0001c0003t0002g0188 a0001c0003t0002g0201 a0001c0003t0005g0032 a0001c0042t0002g0160 a0002c0001t0002g0104 a0002c0001t0002g0121 a0002c0001t0002g0142 a0002c0001t0003g0132 a0002c0001t0005g0042 a0002c0001t0010g0064 a0003c0004t0002g0136 a0003c0015t0002g0144 a0005c0012t0002g0140 a0005c0012t0005g0049 a0005c0012t0005g0063 a0007c0010t0002g0166 a0007c0031t0008g0010 a0011c0025t0005g0016 a0011c0025t0005g0041 a0023c0046t0002g0176	28	222	0.1261	-192	c.436 others(19): Show c.4368-1338_4368-1147del		IQGAP2	ENSG00000145703.17	transcript	ENST00000274364.11	protein_coding	33/35					INFO_REALIGN_3_PRIME	chr5	TogoVar
ITGAM_chr16_31254975_31337877	31316038	CAAAAAAT others(185): Show CAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCAGAGCTTGCAGT GAGTCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(230): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18945.hp1 NA18945.hp2 NA18951.hp1 NA18951.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18975.hp1 NA18975.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19002.hp1 NA19002.hp2 NA19057.hp1 NA19057.hp2 NA19063.hp1 NA19063.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010	a0001c0001 a0001c0002 a0001c0005 others(11): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0001c0008 a0001c0013 a0002c0003 a0003c0004 a0004c0006 a0005c0009 a0006c0010 a0007c0011 a0008c0015 a0010c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0002 a0001c0002t0007 a0001c0005t0004 a0001c0007t0004 a0001c0007t0009 a0001c0008t0004 a0001c0013t0008 a0002c0003t0003 a0003c0004t0005 a0003c0004t0006 a0004c0006t0003 a0005c0009t0002 a0006c0010t0004 a0007c0011t0004 a0008c0015t0001 a0010c0012t0004	a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0001g0032 others(229): Show a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0064 a0001c0001t0001g0075 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0103 a0001c0001t0001g0118 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0002g0076 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0174 a0001c0001t0004g0114 a0001c0001t0004g0115 a0001c0001t0004g0147 a0001c0002t0002g0021 a0001c0002t0002g0026 a0001c0002t0002g0029 a0001c0002t0002g0035 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0042 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0002g0045 a0001c0002t0002g0046 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0063 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0087 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0094 a0001c0002t0002g0101 a0001c0002t0002g0104 a0001c0002t0002g0108 a0001c0002t0002g0117 a0001c0002t0002g0128 a0001c0002t0002g0129 a0001c0002t0002g0130 a0001c0002t0002g0168 a0001c0002t0002g0180 a0001c0002t0002g0186 a0001c0002t0002g0191 a0001c0002t0002g0192 a0001c0002t0002g0197 a0001c0002t0002g0211 a0001c0002t0002g0215 a0001c0002t0002g0229 a0001c0002t0002g0231 a0001c0002t0007g0030 a0001c0005t0004g0001 a0001c0005t0004g0149 a0001c0005t0004g0150 a0001c0005t0004g0151 a0001c0005t0004g0152 a0001c0005t0004g0153 a0001c0005t0004g0154 a0001c0005t0004g0155 a0001c0005t0004g0156 a0001c0005t0004g0157 a0001c0005t0004g0158 a0001c0005t0004g0159 a0001c0005t0004g0160 a0001c0005t0004g0161 a0001c0005t0004g0162 a0001c0005t0004g0163 a0001c0005t0004g0165 a0001c0005t0004g0243 a0001c0007t0004g0023 a0001c0007t0004g0024 a0001c0007t0004g0109 a0001c0007t0004g0143 a0001c0007t0004g0144 a0001c0007t0004g0145 a0001c0007t0004g0146 a0001c0007t0004g0148 a0001c0007t0009g0142 a0001c0008t0004g0140 a0001c0008t0004g0141 a0001c0013t0008g0175 a0002c0003t0003g0016 a0002c0003t0003g0060 a0002c0003t0003g0061 a0002c0003t0003g0062 a0002c0003t0003g0074 a0002c0003t0003g0080 a0002c0003t0003g0085 a0002c0003t0003g0088 a0002c0003t0003g0092 a0002c0003t0003g0102 a0002c0003t0003g0110 a0002c0003t0003g0111 a0002c0003t0003g0112 a0002c0003t0003g0113 a0002c0003t0003g0116 a0002c0003t0003g0119 a0002c0003t0003g0120 a0002c0003t0003g0121 a0002c0003t0003g0122 a0002c0003t0003g0123 a0002c0003t0003g0124 a0002c0003t0003g0125 a0002c0003t0003g0126 a0002c0003t0003g0127 a0003c0004t0005g0019 a0003c0004t0005g0022 a0003c0004t0005g0025 a0003c0004t0005g0027 a0003c0004t0005g0031 a0003c0004t0005g0036 a0003c0004t0005g0037 a0003c0004t0005g0047 a0003c0004t0005g0051 a0003c0004t0005g0054 a0003c0004t0005g0077 a0003c0004t0005g0078 a0003c0004t0005g0079 a0003c0004t0005g0086 a0003c0004t0005g0095 a0003c0004t0005g0096 a0003c0004t0005g0097 a0003c0004t0005g0098 a0003c0004t0005g0099 a0003c0004t0005g0105 a0003c0004t0005g0106 a0003c0004t0005g0107 a0003c0004t0006g0034 a0004c0006t0003g0002 a0004c0006t0003g0003 a0004c0006t0003g0004 a0004c0006t0003g0005 a0004c0006t0003g0006 a0004c0006t0003g0007 a0004c0006t0003g0008 a0004c0006t0003g0009 a0004c0006t0003g0010 a0004c0006t0003g0011 a0004c0006t0003g0012 a0004c0006t0003g0013 a0004c0006t0003g0014 a0004c0006t0003g0015 a0005c0009t0002g0050 a0005c0009t0002g0093 a0006c0010t0004g0018 a0007c0011t0004g0017 a0008c0015t0001g0172 a0010c0012t0004g0164	233	244	0.9549	-192	c.170 others(19): Show c.1708-5196_1708-5005del		ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding	14/29					INFO_REALIGN_3_PRIME	chr16	TogoVar
JAKMIP3_chr10_132060946_132189858	132116503	GGTGTGAG others(185): Show GGTGTGAGTGTGTGCATCATGGACGCTCCCCCCGAATACACATTCAGATG TGTGAGTGTGTGCATCATGGACGCTCCCCCCGAATACACATTCAGATGTG TGAGTGTGTGCATCATGGACGCTCCCCCCGAATACACATTCAGATGTGTG AGTGTGTGCATCATGGACGCTCCCCCCGAATACACATTCAGAT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00738.hp2 HG01106.hp2 others(11): Show HG00099.hp1 HG00738.hp2 HG01106.hp2 HG01109.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01346.hp2 HG01981.hp2 HG02015.hp1 HG02027.hp2 HG02135.hp1 HG03834.hp2 NA19081.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0008	a0001c0013 a0001c0015 a0002c0005 others(5): Show a0001c0013 a0001c0015 a0002c0005 a0003c0002 a0003c0021 a0004c0007 a0005c0012 a0008c0039	a0001c0013t0016 a0001c0013t0036 a0001c0015t0001 others(8): Show a0001c0013t0016 a0001c0013t0036 a0001c0015t0001 a0002c0005t0001 a0003c0002t0001 a0003c0021t0001 a0004c0007t0002 a0005c0012t0007 a0005c0012t0011 a0005c0012t0033 a0008c0039t0002	a0001c0013t0016g0155 a0001c0013t0036g0005 a0001c0015t0001g0030 others(11): Show a0001c0013t0016g0155 a0001c0013t0036g0005 a0001c0015t0001g0030 a0002c0005t0001g0049 a0003c0002t0001g0001 a0003c0002t0001g0003 a0003c0021t0001g0032 a0004c0007t0002g0026 a0005c0012t0007g0047 a0005c0012t0007g0048 a0005c0012t0007g0050 a0005c0012t0011g0002 a0005c0012t0033g0046 a0008c0039t0002g0133	14	158	0.0886	-192	c.136 others(15): Show c.136-479_136-288del		JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	2/23					INFO_REALIGN_3_PRIME	chr10	TogoVar
KIR3DL1_chr19_54811468_54835778	54833234	TCCTGGAG others(185): Show TCCTGGAGTGGAGATATGGGCCTGGAGTGGAGATATGGGTCTGCAGTGGA GTTATGGGCCTGGAGTGAAGTTATGGGCCTGGAGGTGGAGATATGGGCCT GGAGTGGAGATATGGGACTAGAGTGGAGATAGGGGCCTGGAGGTGGAGAT CTGGGCCTGGAGTGGAGATCTGGGCCTGGAGTGGAGATCTGGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG00673.hp1 others(46): Show HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00735.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01192.hp2 HG01255.hp1 HG01515.hp2 HG01952.hp1 HG02055.hp2 HG02074.hp1 HG02257.hp2 HG02280.hp1 HG02486.hp2 HG02723.hp1 HG02738.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG03041.hp2 HG03490.hp2 HG04184.hp1 HG06807.hp2 NA18747.hp2 NA18943.hp1 NA18945.hp2 NA18948.hp1 NA18950.hp2 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18979.hp1 NA18981.hp2 NA18987.hp1 NA18993.hp2 NA18997.hp2 NA19007.hp1 NA19065.hp2 NA19072.hp1 NA19082.hp1 NA19083.hp2 NA19085.hp2 NA20129.hp1 NA21309.hp1	a0001 a0005 a0007 others(4): Show a0001 a0005 a0007 a0014 a0027 a0028 a0030	a0001c0001 a0005c0005 a0007c0008 others(5): Show a0001c0001 a0005c0005 a0007c0008 a0007c0016 a0014c0015 a0027c0035 a0028c0024 a0030c0020	a0001c0001t0001 a0005c0005t0006 a0005c0005t0007 others(6): Show a0001c0001t0001 a0005c0005t0006 a0005c0005t0007 a0007c0008t0005 a0007c0016t0005 a0014c0015t0007 a0027c0035t0010 a0028c0024t0005 a0030c0020t0010	a0001c0001t0001g0042 a0005c0005t0006g0005 a0005c0005t0006g0141 others(16): Show a0001c0001t0001g0042 a0005c0005t0006g0005 a0005c0005t0006g0141 a0005c0005t0006g0143 a0005c0005t0007g0005 a0005c0005t0007g0021 a0005c0005t0007g0142 a0007c0008t0005g0011 a0007c0008t0005g0014 a0007c0008t0005g0037 a0007c0008t0005g0071 a0007c0008t0005g0072 a0007c0008t0005g0073 a0007c0016t0005g0036 a0014c0015t0007g0005 a0014c0015t0007g0047 a0027c0035t0010g0139 a0028c0024t0005g0014 a0030c0020t0010g0068	49	395	0.1241	-192	c.29 others(11): Show c.2960_*3151del		KIR3DL1	ENSG00000167633.18	transcript	ENST00000391728.8	protein_coding					2457		chr19	TogoVar
KNDC1_chr10_133155219_133231412	133220178	AGAGGAGG others(185): Show AGAGGAGGGGCTCAGGCGGCCGCGCGCCCAGGAGAGGAGGGGCTCAGGCG GCCGCGCGCCCAGGTGAGGAGGGGCTCAGGCGGGCGCGCGCCCAGGAGAG GAGGGGCTCAGGCGGCCGCGCGCCCAGGTGAGGAGGGGCTCAGGCGGGCG CGCGCCCAGGAGAGGAGGGGCTCAGGCGGGCGCGCGCCCAGGT	A A	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG01515.hp1 HG01517.hp2	a0013 a0013	a0013c0023 a0013c0023	a0013c0023t0004 a0013c0023t0004	a0013c0023t0004g0305 a0013c0023t0004g0306 a0013c0023t0004g0305 a0013c0023t0004g0306	2	332	0.0060	-192	c.501 others(16): Show c.5018+98_5018+289del		KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	29/29					INFO_REALIGN_3_PRIME	chr10	TogoVar
KNDC1_chr10_133155219_133231412	133220274	AGAGGAGG others(185): Show AGAGGAGGGGCTCAGGCGGCCGCGCGCCCAGGTGAGGAGGGGCTCAGGCG GGCGCGCGCCCAGGAGAGGAGGGGCTCAGGCGGGCGCGCGCCCAGGTGAG GAGGGGCTCAGGCGGCCGCGCGCCCAGGTGAGGAGGTGCTCAGGCGGGCG CGCGCCCAGGAGAGGAGGGGCTCAGGCGGCCGCGCGCCCAGGT	A A	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	-192	c.501 others(17): Show c.5018+213_5018+404del		KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	29/29					INFO_REALIGN_3_PRIME	chr10	TogoVar
KNDC1_chr10_133155219_133231412	133220338	AGAGGAGG others(185): Show AGAGGAGGGGCTCAGGCGGGCGCGCGCCCAGGTGAGGAGGGGCTCAGGCG GCCGCGCGCCCAGGTGAGGAGGTGCTCAGGCGGGCGCGCGCCCAGGAGAG GAGGGGCTCAGGCGGCCGCGCGCCCAGGTGAGGAGGGGCTCAGGCGGCCG CGCGCCCAGGTGAGGAGGGGCTCAGGCGGCCGCGCGCCCAGGT	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0121 a0002c0002t0002g0121	1	332	0.0030	-192	c.501 others(17): Show c.5018+277_5018+468del		KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	29/29					INFO_REALIGN_3_PRIME	chr10	TogoVar
LAMP1_chr13_113292239_113328672	113314087	CCAGTGTG others(185): Show CCAGTGTGGAGATGCCCGTGTGCCTGGGGCGTGGCCTCCCGGAGGGAGTC AGTGTGGAGATGCCCGTGTGCCTGGGGCGTGGCCTACTAGAGGGAGTCAG TGTGGAGATGCCCGTGTGCCTGGGGCGTGGCCTCCTGGAGGGAACCAGTG CGGAGATGTCGGTGTGCCTGGGGCGTGGCCTCCCGGAGGGAGT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA21309.hp2 HG02809.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0017 a0003c0003t0002 a0001c0001t0017 a0003c0003t0002	a0001c0001t0017g0321 a0003c0003t0002g0333 a0001c0001t0017g0321 a0003c0003t0002g0333	2	354	0.0057	-192	c.562 others(17): Show c.562+3234_562+3425del		LAMP1	ENSG00000185896.11	transcript	ENST00000332556.5	protein_coding	4/8					INFO_REALIGN_3_PRIME	chr13	TogoVar
LAMP1_chr13_113292239_113328672	113314231	CCAGTGCG others(185): Show CCAGTGCGGAGATGTCGGTGTGCCTGGGGCGTGGCCTCCCGGAGGGAGTC AGTGTGGAGATGTCGGTGTGCCTGGGGCGTGGCCTCCTGGAGGGAGCCAG TGCGGAGATGCCCGTGTGCCTGGGGCGGGGCCTCCTGGAGGGAACCAGCG TGGAGATGCCCATGTGCCTGGGGCGTGGCCTCCTAGAGGGAGT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0012 a0004c0004t0012	a0004c0004t0012g0052 a0004c0004t0012g0052	1	354	0.0028	-192	c.562 others(17): Show c.562+3370_562+3561del		LAMP1	ENSG00000185896.11	transcript	ENST00000332556.5	protein_coding	4/8					INFO_REALIGN_3_PRIME	chr13	TogoVar
LAMP1_chr13_113292239_113328672	113314487	AGTGTGCC others(185): Show AGTGTGCCTGGGGCGTGGCCTCCTAGAGGGAGTCAGTGTGGAGATGCCCG TGTGCCTGGGGCGTGGCCTCCTGGAGGGAACCAGTGTGGAGATGTCGGTG TGCCTGGGGCGTGGCCTCCTAGAGGGAGTCAGTGTGGAGATGCCCGTGTG CCTGGGGCGTGGCCTCCTGGAGGGAACCAGTGTGGAGATGTCG	A A	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	354	0.0028	-192	c.562 others(17): Show c.562+3765_562+3956del		LAMP1	ENSG00000185896.11	transcript	ENST00000332556.5	protein_coding	4/8					INFO_REALIGN_3_PRIME	chr13	TogoVar
LIPG_chr18_49557057_49604185	49579001	GGGGAGAG others(185): Show GGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 NA18944.hp2 NA19058.hp1 others(1): Show HG02622.hp2 NA18944.hp2 NA19058.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0094 a0001c0001t0097 others(1): Show a0001c0001t0001 a0001c0001t0094 a0001c0001t0097 a0001c0001t0098	a0001c0001t0001g0210 a0001c0001t0094g0030 a0001c0001t0097g0267 others(1): Show a0001c0001t0001g0210 a0001c0001t0094g0030 a0001c0001t0097g0267 a0001c0001t0098g0268	4	384	0.0104	-192	c.794 others(17): Show c.794-2368_794-2177del		LIPG	ENSG00000101670.12	transcript	ENST00000261292.9	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
LRFN2_chr6_40386591_40592364	40491451	ACTCCATT others(185): Show ACTCCATTTTGCTGTGTGACTGTGGGTAGGTAGGCAGCTTACCCTCTCTG AGTGTGTTTCCCTCACTCTATTTTGCCATGTGACTGTGGGTAGGTAGGCA GTTTACCCTCTCTGAGTGTGTTTCCCTCACTCTATTTTGCCGTGTGACTG TGGGTAGGTAGGCAGCTTACCCTCTCTGAGTGTGTTTCCCTCT	A A	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	228	0.0044	-192	c.-18 others(19): Show c.-18-58512_-18-58321del		LRFN2	ENSG00000156564.10	transcript	ENST00000338305.7	protein_coding	1/2						chr6	TogoVar
LRFN2_chr6_40386591_40592364	40491528	ATGTGACT others(185): Show ATGTGACTGTGGGTAGGTAGGCAGTTTACCCTCTCTGAGTGTGTTTCCCT CACTCTATTTTGCCGTGTGACTGTGGGTAGGTAGGCAGCTTACCCTCTCT GAGTGTGTTTCCCTCTCTCCATTTTGCTGTGTGACTGTGGGTAGGTAGGC AGCTTACCCTCTCTGAGTGTGTTTCCCTCACTCTATTTTGCCG	A A	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02738.hp2 HG02602.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0092 a0001c0001t0001g0067 a0001c0001t0001g0092	2	228	0.0088	-192	c.-18 others(19): Show c.-18-58589_-18-58398del		LRFN2	ENSG00000156564.10	transcript	ENST00000338305.7	protein_coding	1/2						chr6	TogoVar
LYPD8_chr1_248734415_248760759	248746750	CCAGCAGC others(185): Show CCAGCAGCACCCACCCAGGGCATCGCCCGCACGGCCAGCACCCACCCAGG GCATCGCCCGCACGGCCAGCACCCACCCAGGGCATCCCCCGCACGGCCAG CACCCACCCAGGGCATCACCCGCACGGCCAGCACCCACCCAGGGCATCGC CCGCACGGCCAGCACCCACCCAGGGCATCGCCCGCACGGCCAG	C C	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	374	0.0027	-192	c.337 others(17): Show c.337+1347_338-1472del		LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	5/6						chr1	TogoVar
LYPD8_chr1_248734415_248760759	248746784	CCAGCACC others(185): Show CCAGCACCCACCCAGGGCATCGCCCGCACGGCCAGCACCCACCCAGGGCA TCCCCCGCACGGCCAGCACCCACCCAGGGCATCACCCGCACGGCCAGCAC CCACCCAGGGCATCGCCCGCACGGCCAGCACCCACCCAGGGCATCGCCCG CACGGCCAGCAGCACCCACCCAGGGCATCGCCCGCACGGCCAG	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG03492.hp1 NA18948.hp2 others(3): Show HG01081.hp1 HG03492.hp1 NA18948.hp2 NA18967.hp1 NA19054.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0104 a0001c0001t0001g0111 others(3): Show a0001c0001t0001g0005 a0001c0001t0001g0104 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0117 a0001c0001t0001g0118	6	374	0.0160	-192	c.337 others(17): Show c.337+1313_337+1504del		LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	5/6						chr1	TogoVar
MICALL2_chr7_1429359_1464470	1444070	ACCTGTCC others(185): Show ACCTGTCCCCGCGTCCACTCAGACCCGCCAGCGTGGGTCCCGCTCGCGAC CTGTCCCCGCGTCCACTCAGACCCGCCAGCGTGGGTCCCGCTCGCGACCT GTCCCCGCGTCCACTCAGACCCGCCAGCGTGGGTCCCGCTCGCGACCTGT CCCCGCGTCCACTCAGACCCGCCAGCGTGGGTCCCGCTCGCGG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02451.hp2 HG02723.hp2 others(4): Show HG02280.hp1 HG02451.hp2 HG02723.hp2 HG03130.hp2 NA19043.hp2 NA19240.hp2 NA20300.hp1	a0008 a0036 a0037 a0008 a0036 a0037	a0008c0008 a0008c0014 a0036c0038 others(1): Show a0008c0008 a0008c0014 a0036c0038 a0037c0025	a0008c0008t0001 a0008c0014t0001 a0036c0038t0002 others(1): Show a0008c0008t0001 a0008c0014t0001 a0036c0038t0002 a0037c0025t0001	a0008c0008t0001g0021 a0008c0008t0001g0024 a0008c0008t0001g0025 others(4): Show a0008c0008t0001g0021 a0008c0008t0001g0024 a0008c0008t0001g0025 a0008c0014t0001g0020 a0008c0014t0001g0022 a0036c0038t0002g0233 a0037c0025t0001g0023	7	280	0.0250	-192	c.141 others(17): Show c.1418+390_1418+581del		MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	6/16						chr7	TogoVar
MOV10L1_chr22_50085006_50166687	50147175	GGCAGGCC others(185): Show GGCAGGCCGCTCTCTCAGAGGCACTCTGTGCAGAAGCAGGGAGGGTGCTG CAGGCCGCTCTCTCAGAGGCGCTCTGTGCAGAAGCAGGGAGGGTGCTGCA GGCCGCTCTCTCAGAGGCGCTCTGTGCAGAAGCAGGGAGGGTGCTGCAGG CCGCTCTCTCAGAGGCGCTCTGTGCAGAAGCAGGGAGGGTGCT	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01070.hp1 HG01074.hp2 others(26): Show HG00741.hp1 HG01070.hp1 HG01074.hp2 HG01109.hp2 HG01192.hp1 HG01255.hp2 HG01358.hp2 HG01516.hp2 HG01517.hp2 HG01934.hp2 HG01975.hp1 HG02300.hp1 HG02451.hp2 HG02622.hp2 HG02647.hp2 HG02698.hp1 HG02886.hp1 HG03017.hp1 HG03139.hp1 HG03453.hp2 HG03471.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03579.hp2 NA18998.hp2 NA19001.hp1 NA19001.hp2 NA19043.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0017	a0001c0001 a0001c0007 a0002c0002 others(4): Show a0001c0001 a0001c0007 a0002c0002 a0002c0013 a0003c0012 a0006c0006 a0017c0032	a0001c0001t0001 a0001c0007t0001 a0002c0002t0002 others(4): Show a0001c0001t0001 a0001c0007t0001 a0002c0002t0002 a0002c0013t0002 a0003c0012t0002 a0006c0006t0001 a0017c0032t0001	a0001c0001t0001g0001 a0001c0001t0001g0075 a0001c0001t0001g0149 others(24): Show a0001c0001t0001g0001 a0001c0001t0001g0075 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0213 a0001c0001t0001g0226 a0001c0007t0001g0050 a0001c0007t0001g0052 a0001c0007t0001g0053 a0001c0007t0001g0055 a0001c0007t0001g0219 a0001c0007t0001g0221 a0001c0007t0001g0228 a0002c0002t0002g0007 a0002c0002t0002g0027 a0002c0002t0002g0391 a0002c0013t0002g0038 a0003c0012t0002g0325 a0003c0012t0002g0327 a0003c0012t0002g0340 a0006c0006t0001g0067 a0006c0006t0001g0068 a0006c0006t0001g0069 a0017c0032t0001g0093	29	400	0.0725	-192	c.262 others(19): Show c.2627+1387_2627+1578del		MOV10L1	ENSG00000073146.17	transcript	ENST00000262794.10	protein_coding	19/26					INFO_REALIGN_3_PRIME	chr22	TogoVar
MOV10L1_chr22_50085006_50166687	50147197	ACTCTGTG others(185): Show ACTCTGTGCAGAAGCAGGGAGGGTGCTGCAGGCCGCTCTCTCAGAGGCGC TCTGTGCAGAAGCAGGGAGGGTGCTGCAGGCCGCTCTCTCAGAGGCGCTC TGTGCAGAAGCAGGGAGGGTGCTGCAGGCCGCTCTCTCAGAGGCGCTCTG TGCAGAAGCAGGGAGGGTGCTGCAGGCCGCTCTCTCAGAGGCG	A A	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01361.hp2 HG02027.hp2 others(21): Show HG01346.hp1 HG01361.hp2 HG02027.hp2 HG02293.hp1 HG02809.hp2 HG03017.hp2 HG03490.hp1 HG03669.hp2 HG03942.hp1 HG04184.hp1 NA18945.hp1 NA18945.hp2 NA18959.hp1 NA18980.hp1 NA18995.hp2 NA18999.hp1 NA19004.hp2 NA19074.hp2 NA19077.hp2 NA19082.hp2 NA19087.hp1 NA19091.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 others(4): Show a0001 a0004 a0005 a0006 a0011 a0020 a0021	a0001c0001 a0001c0005 a0004c0008 others(5): Show a0001c0001 a0001c0005 a0004c0008 a0005c0004 a0006c0006 a0011c0017 a0020c0038 a0021c0027	a0001c0001t0001 a0001c0005t0001 a0004c0008t0001 others(5): Show a0001c0001t0001 a0001c0005t0001 a0004c0008t0001 a0005c0004t0001 a0006c0006t0001 a0011c0017t0001 a0020c0038t0001 a0021c0027t0001	a0001c0001t0001g0142 a0001c0001t0001g0237 a0001c0001t0001g0249 others(21): Show a0001c0001t0001g0142 a0001c0001t0001g0237 a0001c0001t0001g0249 a0001c0001t0001g0254 a0001c0001t0001g0258 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0272 a0001c0001t0001g0279 a0001c0001t0001g0282 a0001c0001t0001g0291 a0001c0005t0001g0172 a0001c0005t0001g0174 a0001c0005t0001g0189 a0001c0005t0001g0196 a0004c0008t0001g0080 a0005c0004t0001g0091 a0005c0004t0001g0103 a0005c0004t0001g0115 a0006c0006t0001g0264 a0006c0006t0001g0273 a0011c0017t0001g0269 a0020c0038t0001g0171 a0021c0027t0001g0161	24	400	0.0600	-192	c.262 others(19): Show c.2627+1610_2627+1801del		MOV10L1	ENSG00000073146.17	transcript	ENST00000262794.10	protein_coding	19/26					INFO_REALIGN_3_PRIME	chr22	TogoVar
MOV10L1_chr22_50085006_50166687	50166268	ATCCCAGC others(185): Show ATCCCAGCGTGGCCCACGTCTCCGATCCCAGCGTGGCTCAAGCCTGCAAT CCCAGCGTGGCTCAAGCCTGCAATCCCAGCGTGGCCCACGCCTGCAATCC CAGCGTGGCTCACGCCTGCAGTCCCAGCGTGGCCCACGCCTGCAGTCCCA GCGTGGCCCACGCCTGCAGTCCCAGCGTGGCCCACATCTCCAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0016 a0016	a0016c0029 a0016c0029	a0016c0029t0001 a0016c0029t0001	a0016c0029t0001g0206 a0016c0029t0001g0206	1	400	0.0025	-192	c.48 others(11): Show c.4820_*5011del		MOV10L1	ENSG00000073146.17	transcript	ENST00000262794.10	protein_coding					4582		chr22	TogoVar
MPPED1_chr22_43407014_43512848	43496569	AGATGGTG others(185): Show AGATGGTGGTGGTGGTGGTGGAGATGGTGGTGGTGGAGGTAGTGGTGGTG GAGATGGTGGTGGAGATGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTAGT GGTGGTGGAGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG TAGTGGTGGTGGAAGTGGTGGTGGTGGAGGTAGTGGTGGTGGT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02922.hp2 NA18966.hp2 HG02622.hp2 HG02922.hp2 NA18966.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0007 a0001c0003 a0001c0004 a0001c0007	a0001c0003t0020 a0001c0004t0001 a0001c0007t0006 a0001c0003t0020 a0001c0004t0001 a0001c0007t0006	a0001c0003t0020g0031 a0001c0004t0001g0227 a0001c0007t0006g0190 a0001c0003t0020g0031 a0001c0004t0001g0227 a0001c0007t0006g0190	3	250	0.0120	-192	c.633 others(17): Show c.633-1651_633-1460del		MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
MUC4_chr3_195741771_195816929	195780359	GACCTGTG others(185): Show GACCTGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGACGTGA CCTGTAGATACTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGGTGTGACC TGAGGATGATGAGGAAGGGATGGTGACAGGAAGAGGGGTGGCCTGACCTG TGGATGCTGAGGAAGTGTCCGTGACAGGAAGACGGGTGGTGTC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00099.hp1 HG02015.hp1 HG02040.hp2 others(10): Show HG00099.hp1 HG02015.hp1 HG02040.hp2 HG02145.hp1 HG02895.hp2 HG03688.hp2 HG03942.hp2 HG04199.hp2 NA18948.hp1 NA18979.hp2 NA18982.hp1 NA18998.hp1 NA19086.hp1	a0011 a0024 a0025 others(6): Show a0011 a0024 a0025 a0074 a0076 a0119 a0148 a0156 a0170	a0011c0008 a0011c0028 a0024c0012 others(7): Show a0011c0008 a0011c0028 a0024c0012 a0025c0010 a0074c0167 a0076c0168 a0119c0078 a0148c0073 a0156c0106 a0170c0110	a0011c0008t0001 a0011c0028t0001 a0024c0012t0001 others(7): Show a0011c0008t0001 a0011c0028t0001 a0024c0012t0001 a0025c0010t0001 a0074c0167t0001 a0076c0168t0001 a0119c0078t0001 a0148c0073t0001 a0156c0106t0001 a0170c0110t0001	a0011c0008t0001g0058 a0011c0008t0001g0059 a0011c0028t0001g0057 others(10): Show a0011c0008t0001g0058 a0011c0008t0001g0059 a0011c0028t0001g0057 a0024c0012t0001g0114 a0024c0012t0001g0156 a0025c0010t0001g0078 a0025c0010t0001g0141 a0074c0167t0001g0067 a0076c0168t0001g0082 a0119c0078t0001g0099 a0148c0073t0001g0150 a0156c0106t0001g0144 a0170c0110t0001g0103	13	249	0.0522	-192	c.110 others(11): Show c.11029_11220del	p.Asp others(15): Show p.Asp3677_Gly3740del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	11332/16756	11029/16239	3677/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195780478	ATGGTGAC others(185): Show ATGGTGACAGGAAGAGGGGTGGCCTGACCTGTGGATGCTGAGGAAGTGTC CGTGACAGGAAGACGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGG TGACAGGAAGAGGGGTGGCGTGACCTGTGGATACTGAGGAAGCGTCGGTG ACAAGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAAGGC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02486.hp1 HG03098.hp1 HG02486.hp1 HG03098.hp1	a0049 a0050 a0049 a0050	a0049c0145 a0050c0147 a0049c0145 a0050c0147	a0049c0145t0008 a0050c0147t0004 a0049c0145t0008 a0050c0147t0004	a0049c0145t0008g0055 a0050c0147t0004g0231 a0049c0145t0008g0055 a0050c0147t0004g0231	2	249	0.0080	-192	c.109 others(11): Show c.10910_11101del	p.Ser others(15): Show p.Ser3637_Thr3700del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	11213/16756	10910/16239	3637/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195781067	GAGTGCTG others(185): Show GAGTGCTGGTGTCACCTGTGGATGCTGAGGAAGGGATGGTGACATGAAGA GGGGTGGTGTGACCTGTAGATGCTGAGGAAGGGCTGGTGACAGGAAGAGG GGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGG TGGTGTGACCTGTAGATGCTGAGGAAGTGCTGGTGACAGGAAC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01884.hp1 HG02976.hp1 HG03225.hp2 others(1): Show HG01884.hp1 HG02976.hp1 HG03225.hp2 NA18906.hp2	a0070 a0073 a0080 others(1): Show a0070 a0073 a0080 a0105	a0070c0174 a0073c0176 a0080c0170 others(1): Show a0070c0174 a0073c0176 a0080c0170 a0105c0124	a0070c0174t0002 a0073c0176t0005 a0080c0170t0005 others(1): Show a0070c0174t0002 a0073c0176t0005 a0080c0170t0005 a0105c0124t0003	a0070c0174t0002g0211 a0073c0176t0005g0228 a0080c0170t0005g0240 others(1): Show a0070c0174t0002g0211 a0073c0176t0005g0228 a0080c0170t0005g0240 a0105c0124t0003g0116	4	249	0.0161	-192	c.103 others(11): Show c.10321_10512del	p.Val others(15): Show p.Val3441_Thr3504del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	10624/16756	10321/16239	3441/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195781247	TGGTGACA others(185): Show TGGTGACAGGAACAGGGGTGGCGTGACCGGTGGATGCTGAGGAAGTGCTG GTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGGGCTAGT GACAGGAAGAGGCATGGTGTCACCTGTGGATACTGAGGAAGTGTTGGTGA CAGGAAGAGGGGTGGCCTGACCTGTGGATGCCGAGGAAATGTC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00738.hp2 HG00738.hp2	a0179 a0179	a0179c0032 a0179c0032	a0179c0032t0002 a0179c0032t0002	a0179c0032t0002g0193 a0179c0032t0002g0193	1	249	0.0040	-192	c.101 others(11): Show c.10141_10332del	p.Asp others(15): Show p.Asp3381_Thr3444del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	10444/16756	10141/16239	3381/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195781680	GGTGACAA others(185): Show GGTGACAAGAAGAGGGGTGGTGTCACCTGTGGATGATGAGGAAGTGTCGG TGACAGGAAGAGAGGTGGTGTCACCTGTGTATGCTGAGGAAGTGTCGGTG ACAGGAAGAGAGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGAC AGGAAGAGAGGTGGCATGACCGGTGGATGCTGAGGAAGGGCTA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02723.hp2 HG02723.hp2	a0036 a0036	a0036c0150 a0036c0150	a0036c0150t0007 a0036c0150t0007	a0036c0150t0007g0189 a0036c0150t0007g0189	1	249	0.0040	-192	c.970 others(9): Show c.9708_9899del	p.Ser others(15): Show p.Ser3237_Thr3300del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	10011/16756	9708/16239	3236/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195782255	TAGTGACA others(185): Show TAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCTG GTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGT GACAGGAAGCGGGGTGGCGTGACCGGTGGATGCTGAGGAAGGGCTGGTGA CATGAAGAGGGTTGGCGTGACCTGTGGATGCTGAGGAAGTGTC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(4): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00738.hp2 HG01106.hp2 HG01167.hp1 HG01515.hp2	a0026 a0175 a0178 others(3): Show a0026 a0175 a0178 a0179 a0180 a0181	a0026c0009 a0175c0031 a0178c0034 others(3): Show a0026c0009 a0175c0031 a0178c0034 a0179c0032 a0180c0033 a0181c0036	a0026c0009t0002 a0175c0031t0001 a0178c0034t0002 others(3): Show a0026c0009t0002 a0175c0031t0001 a0178c0034t0002 a0179c0032t0002 a0180c0033t0002 a0181c0036t0002	a0026c0009t0002g0112 a0026c0009t0002g0192 a0175c0031t0001g0190 others(4): Show a0026c0009t0002g0112 a0026c0009t0002g0192 a0175c0031t0001g0190 a0178c0034t0002g0194 a0179c0032t0002g0193 a0180c0033t0002g0195 a0181c0036t0002g0191	7	249	0.0281	-192	c.913 others(9): Show c.9133_9324del	p.Asp others(15): Show p.Asp3045_Thr3108del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	9436/16756	9133/16239	3045/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195782769	TACTGAGG others(185): Show TACTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCCTGACCTGTGGATG CTGAGGAAGTGTCGGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACT GAGGAAAGGCTGGTGAGAGGAAGAGGGGTAGCGTGACCTGTGGACACTGA GGAAGCGTCGGTGACAGGAAGAGGGGTGGCATGACCTGTGGAC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00280.hp2 HG00280.hp2	a0178 a0178	a0178c0034 a0178c0034	a0178c0034t0002 a0178c0034t0002	a0178c0034t0002g0194 a0178c0034t0002g0194	1	249	0.0040	-192	c.861 others(9): Show c.8619_8810del	p.Ser others(15): Show p.Ser2874_Val2937del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	8922/16756	8619/16239	2873/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195783504	GGTGACAG others(185): Show GGTGACAGGAAGAGAGGTGGCATGACCGGTGGATGCTGAGGAAGGGCTAG TGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCTGGTG ACAGGAAGAGGGGTGGCCTGACCTGTGGATGCTGAGGAAGCGTCGGTGAC AAGAAGAGGAGTGGCGTGACCTGTGGATGCTGAGGAAGGGCTA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01891.hp2 HG02647.hp1 HG02723.hp2 HG01891.hp2 HG02647.hp1 HG02723.hp2	a0035 a0036 a0061 a0035 a0036 a0061	a0035c0151 a0036c0150 a0061c0198 a0035c0151 a0036c0150 a0061c0198	a0035c0151t0007 a0036c0150t0007 a0061c0198t0008 a0035c0151t0007 a0036c0150t0007 a0061c0198t0008	a0035c0151t0007g0186 a0036c0150t0007g0189 a0061c0198t0008g0222 a0035c0151t0007g0186 a0036c0150t0007g0189 a0061c0198t0008g0222	3	249	0.0121	-192	c.788 others(9): Show c.7884_8075del	p.Ser others(15): Show p.Ser2629_Thr2692del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	8187/16756	7884/16239	2628/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195783647	CGGTGACA others(185): Show CGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATGCTGAGGAAGGGCTA GTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCTGGT GACAGGAAGAGGGGTGGCCTGACCTGTGGATGCTGAGTAAGTGTCGGTGA CAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGCT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00642.hp1 HG00642.hp1	a0046 a0046	a0046c0164 a0046c0164	a0046c0164t0002 a0046c0164t0002	a0046c0164t0002g0046 a0046c0164t0002g0046	1	249	0.0040	-192	c.774 others(9): Show c.7741_7932del	p.Ser others(15): Show p.Ser2581_Thr2644del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	8044/16756	7741/16239	2581/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195783791	CGGTGACA others(185): Show CGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGCTG GTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGCGGAAGTGTCGGT GACAGGAAGAGAGGTGGCGTGACCTGTGGATGCTGAGGAAGGGCTGGTGA CATGAAGAGAGGTGGCGTGACGTGTGGATAATGAGGAAGCATT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG04228.hp2 HG04228.hp2	a0039 a0039	a0039c0162 a0039c0162	a0039c0162t0002 a0039c0162t0002	a0039c0162t0002g0166 a0039c0162t0002g0166	1	249	0.0040	-192	c.759 others(9): Show c.7597_7788del	p.Asn others(15): Show p.Asn2533_Thr2596del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	7900/16756	7597/16239	2533/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195783833	AAGTGCTG others(185): Show AAGTGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGCGGAA GTGTCGGTGACAGGAAGAGAGGTGGCGTGACCTGTGGATGCTGAGGAAGG GCTGGTGACATGAAGAGAGGTGGCGTGACGTGTGGATAATGAGGAAGCAT TGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGG	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02015.hp1 HG02145.hp1 HG02015.hp1 HG02145.hp1	a0024 a0024	a0024c0012 a0024c0012	a0024c0012t0001 a0024c0012t0001	a0024c0012t0001g0114 a0024c0012t0001g0156 a0024c0012t0001g0114 a0024c0012t0001g0156	2	249	0.0080	-192	c.755 others(9): Show c.7555_7746del	p.Pro others(15): Show p.Pro2519_Thr2582del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	7858/16756	7555/16239	2519/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195784677	GTGACCTG others(185): Show GTGACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGAGTGGTGT CACCTGTGGATACTGAGGAAAGGCTGGTGACAGGAAGAGAGGTGGCGTGA CCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGTGTCACC TGTGGATGCTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(4): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00738.hp2 HG01106.hp2 HG01167.hp1 HG01515.hp2	a0026 a0175 a0178 others(3): Show a0026 a0175 a0178 a0179 a0180 a0181	a0026c0009 a0175c0031 a0178c0034 others(3): Show a0026c0009 a0175c0031 a0178c0034 a0179c0032 a0180c0033 a0181c0036	a0026c0009t0002 a0175c0031t0001 a0178c0034t0002 others(3): Show a0026c0009t0002 a0175c0031t0001 a0178c0034t0002 a0179c0032t0002 a0180c0033t0002 a0181c0036t0002	a0026c0009t0002g0112 a0026c0009t0002g0192 a0175c0031t0001g0190 others(4): Show a0026c0009t0002g0112 a0026c0009t0002g0192 a0175c0031t0001g0190 a0178c0034t0002g0194 a0179c0032t0002g0193 a0180c0033t0002g0195 a0181c0036t0002g0191	7	249	0.0281	-192	c.671 others(9): Show c.6711_6902del	p.Gln others(15): Show p.Gln2237_Gly2300del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	7014/16756	6711/16239	2237/5412			chr3	TogoVar
MUC5AC_chr11_1152953_1206138	1185937	GCTGTTCC others(185): Show GCTGTTCCCACCACCAGCATAACCTCTGCACCTACAACCAGCACAAACTC TGCCCCTATAAGCAGCACAACCTCTGCCACTACAACCAGCAGAATCTCTG GTCCTGAAACTACTCCCAGCCCTGTTCCTACCGCCAGCACAACCTCTGCT TCTACAACTAGCACAACCTCTGGTCCTGGAACTACTCCCAGCC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01109.hp2 HG01109.hp2	a0065 a0065	a0065c0066 a0065c0066	a0065c0066t0001 a0065c0066t0001	a0065c0066t0001g0039 a0065c0066t0001g0039	1	292	0.0034	-192	c.780 others(9): Show c.7800_7991del	p.Thr others(15): Show p.Thr2601_Pro2664del	MUC5AC	ENSG00000215182.8	transcript	ENST00000621226.2	protein_coding	31/49	7847/17448	7800/16965	2600/5654		INFO_REALIGN_3_PRIME	chr11	TogoVar
MUC5AC_chr11_1152953_1206138	1190886	CAGCACAA others(185): Show CAGCACAACCTCTGGTCCTGGAACTACTCCAAGCCCTGTTCCCAGCACCA GTACAACCTCTGCTGCTACAACCAGCACAACCTCTGCTCCTACAACCAGA ACAACATCTGCTCCTACAAGCAGCATGACCTCTGGTCCTGGAACTACTCC CAGCCCTGTTCCCACCACCAGCACAACCTCTGCTCCTACAACT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01891.hp2 HG02109.hp2 HG02922.hp1 HG01891.hp2 HG02109.hp2 HG02922.hp1	a0017 a0028 a0017 a0028	a0017c0040 a0017c0041 a0028c0082 a0017c0040 a0017c0041 a0028c0082	a0017c0040t0003 a0017c0041t0002 a0028c0082t0003 a0017c0040t0003 a0017c0041t0002 a0028c0082t0003	a0017c0040t0003g0228 a0017c0041t0002g0226 a0028c0082t0003g0045 a0017c0040t0003g0228 a0017c0041t0002g0226 a0028c0082t0003g0045	3	292	0.0103	-192	c.127 others(11): Show c.12771_12962del	p.Ser others(15): Show p.Ser4258_Pro4321del	MUC5AC	ENSG00000215182.8	transcript	ENST00000621226.2	protein_coding	31/49	12818/17448	12771/16965	4257/5654		INFO_REALIGN_3_PRIME	chr11	TogoVar
MUSK_chr9_110663791_110811558	110701650	CTATTTAT others(185): Show CTATTTATTTTATTTATTTTATTTTATTTTTTTTACTTTACTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA18956.hp1 HG02258.hp2 NA18956.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0012 a0004c0006t0001 a0001c0001t0012 a0004c0006t0001	a0001c0001t0012g0178 a0004c0006t0001g0322 a0001c0001t0012g0178 a0004c0006t0001g0322	2	326	0.0061	-192	c.628 others(17): Show c.628+4190_628+4381del		MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	5/14					INFO_REALIGN_3_PRIME	chr9	TogoVar
NDST3_chr4_118029486_118263634	118066554	TATGTTAT others(185): Show TATGTTATATATTATATATACATTATATATAACATGTTATATATTATATA TACATTATATATAACATGTTATATATTATATATACATTATATATAACATG TTATATATTATATATACATTATATATAACATGTTATATATTATATATACA TTATATATAACATGTTATATATTATATATACATTATATATAAC	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	216	0.0046	-192	c.981 others(19): Show c.981+11875_981+12066del		NDST3	ENSG00000164100.9	transcript	ENST00000296499.6	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr4	TogoVar
NFATC1_chr18_79390930_79534323	79494221	AACCTGGT others(185): Show AACCTGGTGTGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAA CCTGGTACCGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACC TGGTACGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCGACCTG GTACCGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCG	A A	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0235 a0002c0002t0001g0235	1	322	0.0031	-192	c.278 others(19): Show c.2782+7292_2782+7483del		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
NGEF_chr2_232873701_233018256	232900421	CTTACATG others(185): Show CTTACATGCTCTCACAGTCACTCATATACACGTTCACTCACATTCACTCA CACACACGCTCTCACAGTCACTCATATACACGTTCACTCACATTCACTTA GACACATGCTCTCACAGTCACTCATATACACGTTCACTCACATTCACTCA CACACACGCTCTCACAGTCACTCATATACACGTTCACTCACAT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0011 a0001c0001t0023g0011	1	362	0.0028	-192	c.829 others(17): Show c.829-5697_829-5506del		NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	5/14						chr2	TogoVar
NOL10_chr2_10565754_10694975	10587052	TATACATA others(185): Show TATACATATATATATACATATATATACATATATATACATATATATACACA TATATATACATATATATACATATATATACATATATACACATATATATACA TATATACACATATATACACATATATATACACATATATATACACATATATA TACACATATATATATACATATATATACATATATATATACATAC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02027.hp1 HG02145.hp1 others(5): Show HG01081.hp2 HG02027.hp1 HG02145.hp1 HG03927.hp1 NA18947.hp2 NA18959.hp2 NA19005.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0288 a0001c0001t0001g0294 a0001c0001t0001g0295 others(5): Show a0001c0001t0001g0288 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0301 a0001c0001t0001g0313 a0001c0001t0001g0334 a0001c0001t0001g0342 a0001c0001t0001g0343	8	372	0.0215	-192	c.184 others(19): Show c.1844+1799_1844+1990del		NOL10	ENSG00000115761.17	transcript	ENST00000381685.10	protein_coding	19/20						chr2	TogoVar
NTN5_chr19_48656407_48678017	48669384	CCACCACC others(185): Show CCACCACCATCACCACCACCACCATCACCACCACCATCACCACCATCACC ACCACCACCACCATCACCACCATGACCACCATCATCACCACCATCACCAC CATCACCATCACCACCACCACGACCATCATCACCACCACCACCATCACCA CCACCATCACCACCACCACCATCACCACCACCATCACCACCAT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	412	0.0024	-192	c.631 others(15): Show c.631+780_631+971del		NTN5	ENSG00000142233.14	transcript	ENST00000270235.11	protein_coding	2/6						chr19	TogoVar
OBP2A_chr9_135541126_135554969	135548977	ACTCTGGG others(185): Show ACTCTGGGCTGCGATGCGGTCTGGGGCTCCGCGCTCTGGGCTGCGATGGG GTCTGGGGCTCCGCGCTCTGGGCTGCGATGGGGTCTGGGGCTCCGCGCTC TGGGCTGCGATGGGGTCTGGGGCTCCGCGCTCTGGGCTGCGATGGGGTCT GGGGCTCCGCGCTCTGGGCTGCGATGGGGTCTGGGGCTCCGCG	A A	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0055 a0002c0002t0003g0055	1	455	0.0022	-192	c.490 others(15): Show c.490+184_491-124del		OBP2A	ENSG00000122136.14	transcript	ENST00000371776.6	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr9	TogoVar

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Search Results (Total: 10000 hits)