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
MARK2_chr11_63834110_63916020	63854693	GGCATGGT others(499): Show GGCATGGTGGTGGGTGCCTGTAATGTCAGCTACTCGGGAGGCTGAGGCAG GAGAATTGCAGTGAGCCGAGATCGCACCATTGCACTCTAGCCTGGACCAA CAACAGCGAGACACCATCCCAAAAAAAAAAAAAAAAAAAGGGTATTCCAA GTGAGGAAATACAAAGTATTCATGAGGCATTGCTGCTGTATGCCAAACTT GAGGAAAGCACATGTGTTGGAGCTGAACCAGCTGCAGGGATCATAATTTT TTCTTGAAAGAACAACTGATGGACAAACTAGAGTTGTTCATATGGACATT TTATGAAAATGAACAAAGTGAGCCTGTCATTGTTGCCAGTGATAAAATTC AAGTTTTCAAGTGAAAATTAGAATTTTGGAAAACTTGTGTCTGCTAAAAC TTTTCCGAGATTGGTAGTAAAATTAATGAATGTGATTTTTTGACATTGTG TGAAACGTCAGTGTTTGGAAATTCTGCACAATTCAGTGAAGAAATATTTT CCAGATT	G G	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18957.hp2 NA19081.hp2 others(1): Show NA18943.hp2 NA18957.hp2 NA19081.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0140 a0001c0001t0001g0141 others(1): Show a0001c0001t0001g0128 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143	4	232	0.0172	-506	c.54+ others(17): Show c.54+15136_54+15641del		MARK2	ENSG00000072518.23	transcript	ENST00000402010.8	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr11	TogoVar
NCAPG2_chr7_158626169_158709804	158667304	CCCTTAGC others(499): Show CCCTTAGCCGCTACTGTGTCCCTCCGCTACTGTGTCCCTCCGCTCCTTAG CCACTACCGGATCCCTCCGCCCCCCCTTACCCACTACTGGGTCCCTCCGC CCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGT CCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCAC TACTGGGTCCCTCCGCCCTCCTTACCTACCCTGTGGCCCTCCACCCGCTT ACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCC GCCCTCCTTACCTACCCTGTGGCCCTCCACCCTCTTACCCACTACTGGGT CCCTCCGCCTTCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCAC TACTGGGTCCCTCCGCCCTCCTTACCTACCCTGTGGCCCTCCGCCCTCCC TTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCT CCGCCCT	C C	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0279	1	378	0.0027	-506	c.148 others(19): Show c.1480-3060_1480-2555del		NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27						chr7	TogoVar
PPP1R12C_chr19_55085918_55122637	55093493	CCCCAGCC others(499): Show CCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGACCTCCAGCCCCTCC TCCCTCAGACCCAGGAGCCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAG GAGTCCAGACCTCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGACCCC AGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCAGCCCCTCCTCCCT CAGACCCAGGAGCCCAGACCCCAGCCCCTCCTCCCTCAGACCCAGGAGCC CAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGACCCCAGCCCC TCCTCCCTCAGACCCAGGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACC CAGGAGTCCAGACCTCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGAC CCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCAGCCCCTCCTC CCTCAGACCCAGGAGCCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGA GTCCAGG	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03098.hp2 HG02630.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0273 a0001c0001t0001g0274	2	390	0.0051	-506	c.168 others(17): Show c.1683+346_1684-261del		PPP1R12C	ENSG00000125503.13	transcript	ENST00000263433.8	protein_coding	13/21						chr19	TogoVar
S100A8_chr1_153385032_153396073	153385239	ATACATAG others(499): Show ATACATAGGGAGATTATCTTTGCCTAGAGGATTGCTCACACCAGGAAAAA ACTACCAGTCCTTCAGGCCCTGAGGTGTGCCAGGTAAAGTCCTGGGCAAG GAAAAGTGGCCCAAGAAAGAAGCTCATCTGGTACCTCCTCTCCCTACTCC TCACTCTGGACAGCAGAGACCCTATAGGGGATGAGGAGAAAGAGGCCAGG CAGGCAGGCGAGGAATGGCTGTCCCATCCACACCCAGGGTGGAAAACGGC TACAAGAGAGCACCTTCATGTTTTAATTAGGGTCTCTTTCTTGGAGACAG TAGAGATCTGATTCTACCTCTGCCACTTGCCAGATTCATAAGCTTTGTCA AGTTTCTGAGTCTACTCATGTACAAAATGGAAATAGTAGTTACCTCTCTC ATAGGGTTGTTATGAGAAATGAGATAAGTTACCACAATGTCTTGAGCTAA AAAGCGAAATCATTAACAAAATAATTGGCCTGTGTCAAAATTTTTGTTTC AATTCAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	322	0.0031	-506	c.43 others(11): Show c.4358_*4863del		S100A8	ENSG00000143546.10	transcript	ENST00000368733.4	protein_coding					4792		chr1	TogoVar
SOX11_chr2_5687384_5706385	5705879	GCTGGGGT others(499): Show GCTGGGGTGGAGGAGCTGGGAGACCAGGGTAGAGGAGTTGAGGAGGCCGG GGTGGAGGAATTGGGGAGGCTGGAGTGGAGGAGCAGGGGAGAAAGGGGTG GAGGAAAAGGGGAAGAAGGGGTGGAGGAGGAGGGGAGGCAGGGGTGGAGC TGGGGGGACCGGGGTGGAGGAGCTGGGAGGCCAGGGTGGAGGAGTTGAGG AGGCTGGGGTAGAGGAGCAGGGAGGCTGGGGTAGAGGAGCAGGGAGGCTG GGGTAGAGGAGCAGGGAGGCTGGGGTAGAGGAGCAGGGAGACTGGGGTAG AGGAACAGGTAGGCTGGGGTGGAGGAGCTGGGAGGCCAGGGTGGAGGAGT TGAGGAGGCTGGGGTAGAGGAGCAGGGAGGCTGGGGTAGAGGAGCAGGGA GGCTGGGGTAGAGGAGCAGGGAGGCTGGGGTAGAGGAGCAGGGAGGCTGG GGTGGAGGAGCAGGGAGGCTGGGGTGGAGGAGCAGGGAGACTGGGGTGGA GAAGCTG	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0096 a0001c0001t0096	a0001c0001t0096g0000 a0001c0001t0096g0000	1	434	0.0023	-506	c.11 others(13): Show c.11833_*12338del		SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding					4495		chr2	TogoVar
STIM1_chr11_3850664_4098208	3961125	TCTGAGTA others(499): Show TCTGAGTAGCTGGGACTACAGGCATGCACCACCATGCTTGGCTTTTATAG AGATGGGGTCTCACTATGTTGCCCAGACAGATTTTGAACTCCTGGGCTCA AGCAATGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTAGTGAGCCACT GTACCTGGCCCTGCAGGCTGATTTTGACAGTGTTGCAGAAGATGTGAGGA AGCTGAAAACAAGACCAGATGAGGAAGGACTGAAACAACTCTATGGGCTT TAGAAACAAGCTATAACTGGGGACATTAATATTGAGTGTTCAGGAATGCT AGATTTAAAAGGCAAGGCCAAATGAGAAGCATTGAATTTCCAAAATGGGA TATCAAAGGACAATGTGATGAGTATATATATATATACATATATTTTTTTT TTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAATGGCACGAT CTCCGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTATCCTGCCT CAGTCTC	T T	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA19240.hp1 HG03195.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0160 a0001c0001t0005g0161 a0001c0001t0005g0160 a0001c0001t0005g0161	2	300	0.0067	-506	c.140 others(17): Show c.140-6412_140-5907del		STIM1	ENSG00000167323.13	transcript	ENST00000526596.2	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr11	TogoVar
TCERG1L_chr10_131087391_131316721	131228490	TTTCCTCA others(499): Show TTTCCTCAAGGTCTCTGGAGTCTCCACTCCAGAAAGGCATTTCCTCAAGG CCTCACGAGTCTCCCCTCCAGACAGGCATTTCCTCAAGGCCTCCGGAGTC TTCCCTCCAGACAGGCATTTCCTCAAGGCCTCCGGAGTCTCCCCTCCAGA CAGGCATTTCCTCAAGGCCTCCGGAGTCTCCCCTCCAGACAGGCATTTCC TCAAGGCCTCCGGAGTCTCCCCTCCAGACAGGCATTTCCTCAAGGCCTCC GGAGTCTTCCCTCCAGACAGGCATTTCCTCAAGGTCTCCGGAGTCTCCCC TCCAGACAGGCATTTCCTCAAGGCCTCCGGAGTCTTCCCTCCAGACAGGC ATTTCCTCAAGGTCTCCGGAGTCTCCCCTCCAGACAGGCATTTCCTCAAG GCCTCACGAGTCTCCCCTCCAGACAGGCATTTCCTCAAGGCCTCCGGAGT CTCCCCTCCAGACAGGCATTTCCTCAAGGCCTCCGGAGTCTTCCCTCCAG ACAGGCA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA18612.hp1 NA18952.hp2 others(8): Show HG00423.hp2 NA18612.hp1 NA18952.hp2 NA18956.hp1 NA18957.hp2 NA18960.hp1 NA18971.hp2 NA18974.hp1 NA18975.hp2 NA19007.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0003 a0001c0003t0003	a0001c0001t0001g0032 a0001c0001t0001g0061 a0001c0001t0001g0110 others(8): Show a0001c0001t0001g0032 a0001c0001t0001g0061 a0001c0001t0001g0110 a0001c0001t0002g0205 a0001c0001t0002g0207 a0001c0001t0002g0244 a0001c0002t0001g0153 a0001c0002t0003g0130 a0001c0002t0003g0135 a0001c0002t0003g0176 a0001c0003t0003g0012	11	324	0.0340	-506	c.856 others(19): Show c.856+31263_856+31768del		TCERG1L	ENSG00000176769.9	transcript	ENST00000368642.4	protein_coding	4/11						chr10	TogoVar
TMEM117_chr12_43831081_44394758	44325620	TTGCACAT others(499): Show TTGCACATTAAAGAAATTACCCCTTTTCCTGTTATATATGTTACACATAT TTGTTCTGAGTTTTATTTGTTGAGATTGTTTACAACAGTTGTTTTCAAGA TTGAATCTACCCAAGAATCACCTGATATGTGTGTGTTTATGTCTGTATGT GGTGTGGAGTGGGTGTGTCCATGCGTGTATACAAATTCTTGAACACTGCT CATAGAAAATTTTATATAAAACATATAAAAAAGGTCAGGATAGAACTCTG GCATGTGAAGGCTGGGTGCAGTGGCTCACGCCTATAATTCCAGCACTCTG GGTGTCCAAGGGGGGCAGATCTACTTGAGGTCAGGGATTCAAGACCAGCC TGGCCAACATGGTGAAACCCCATCTCTACCAAAAAATACAAAAATTAGCC AAGTGTGGTGGCGTGCGCCTGGAATCCCAGCTCCTCCAGAGGCTGAGGTG GGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAAATCCT GCCACAC	T T	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	110	0.0091	-506	c.768 others(19): Show c.768+25887_768+26392del		TMEM117	ENSG00000139173.10	transcript	ENST00000266534.8	protein_coding	6/7					INFO_REALIGN_3_PRIME	chr12	TogoVar
WDR7_chr18_56646359_57034792	56967164	AGCCTGCT others(499): Show AGCCTGCTCAATAGGGAGCGCTTGGGTGGAAAAGTTGAAGCAGCACTGCC TTAGGCCATGTGAAGGTTTCCTTTCTGCAGGCTGTTCTTGCCTGTGGTGG TAGCTGAGTCTCCACTGATTATGGAGATCAGAAACTTTGATGCAATTCAG TAGTTAAGGTCCTGCTGTGCTGCTGACTGTGCTTTTACTTGGGAACCGCC AGCAATTTAGGAACATACCTGACTGGAATTTTACTTAATTTTTTTTTTAA GTATCTAACTCCCTATGAAGAAGTGCTTAAATTGTGTTTGATAGGCTGTG CTCTTGCTAAGCAGATGAATTAGGGTCCCTGACTCCTTAGCGGTCCAGGC ATGTGTTTGGTTAAGTCAGCAATGAAAATCTTCCCTCTATCAATATTTGC CTTTGGTTTGGCAGACTTGATATCATATCTCACTGATTTCTAATCCTTTT TGAATGCATTCTTTGTAATAACTGCTCGCTCTTTGCAAGATTCTCTTAGG CTCGTGT	A A	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0089 a0001c0003t0002g0089	1	144	0.0069	-506	c.416 others(19): Show c.4164+4636_4164+5141del		WDR7	ENSG00000091157.15	transcript	ENST00000254442.8	protein_coding	26/27						chr18	TogoVar
ZC3H3_chr8_143432659_143546447	143487451	CCACCACG others(499): Show CCACCACGAAGCTCAGACACAGAACAGCACCCGCTACACGGCCCCATCAC CACGAAGCTCACACACAGAACAGCACCCGCTACACGGCCCCATCACCACG AAGCTCACACACAGAACAGCACCCGCTACACGGCCCCACCACCACGAAGC TCAGACACAGAACAGCACCCGCTACACGACCCCACCACCACGAAGCTCAC ACACAGAACAGCACCCGCTACACGACCCCATCACCACGAAGCTCACACAC AGAACAGCACCCGCTACACTGCCCCATCACCACGAAGCTCAGACACAGAA CAGCACCCGCTACACGGCCCCATCACCACGAAGCTCAGACACAGAACAGC ACCCGCTACACGGCCCCATCACCACGAAGCTCAGACACAGAACAGCACCC GCTCCACGGCCCCATCACCACGAAGCTCACACACAGAACAGCACCCGCTC CACGACCCCATCACCACGAAGCTCACACACAGAACAGCACCCGCTACACA GCCCCAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00597.hp2 others(56): Show HG00099.hp2 HG00408.hp2 HG00597.hp2 HG01099.hp1 HG01109.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01433.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01981.hp1 HG02004.hp1 HG02055.hp1 HG02055.hp2 HG02559.hp2 HG02602.hp1 HG02630.hp2 HG02698.hp2 HG02723.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02976.hp1 HG03195.hp1 HG03453.hp1 HG03492.hp2 HG03579.hp2 HG03669.hp2 HG03831.hp2 HG03927.hp1 HG06807.hp2 NA18747.hp1 NA18950.hp2 NA18952.hp2 NA18956.hp2 NA18965.hp1 NA18980.hp1 NA18998.hp2 NA19065.hp2 NA19081.hp2 NA20129.hp1 NA20300.hp2 NA21309.hp2	a0001 a0007 a0011 others(5): Show a0001 a0007 a0011 a0013 a0014 a0018 a0024 a0035	a0001c0001 a0001c0027 a0007c0009 others(6): Show a0001c0001 a0001c0027 a0007c0009 a0011c0011 a0013c0016 a0014c0017 a0018c0022 a0024c0048 a0035c0036	a0001c0001t0001 a0001c0001t0002 a0001c0027t0001 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0027t0001 a0007c0009t0001 a0007c0009t0003 a0011c0011t0001 a0013c0016t0002 a0014c0017t0003 a0018c0022t0001 a0024c0048t0001 a0035c0036t0001	a0001c0001t0001g0001 a0001c0001t0001g0021 a0001c0001t0001g0022 others(53): Show a0001c0001t0001g0001 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0147 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0033 a0001c0027t0001g0144 a0001c0027t0001g0145 a0007c0009t0001g0233 a0007c0009t0001g0238 a0007c0009t0001g0240 a0007c0009t0001g0241 a0007c0009t0001g0242 a0007c0009t0003g0239 a0011c0011t0001g0243 a0011c0011t0001g0244 a0011c0011t0001g0248 a0013c0016t0002g0018 a0013c0016t0002g0049 a0014c0017t0003g0234 a0014c0017t0003g0235 a0014c0017t0003g0236 a0018c0022t0001g0002 a0024c0048t0001g0237 a0035c0036t0001g0038	59	352	0.1676	-506	c.171 others(21): Show c.1716-12372_1716-11867del		ZC3H3	ENSG00000014164.7	transcript	ENST00000262577.6	protein_coding	4/11						chr8	TogoVar
ZC3H3_chr8_143432659_143546447	143487512	CACACAGA others(499): Show CACACAGAACAGCACCCGCTACACGGCCCCATCACCACGAAGCTCACACA CAGAACAGCACCCGCTACACGGCCCCACCACCACGAAGCTCAGACACAGA ACAGCACCCGCTACACGACCCCACCACCACGAAGCTCACACACAGAACAG CACCCGCTACACGACCCCATCACCACGAAGCTCACACACAGAACAGCACC CGCTACACTGCCCCATCACCACGAAGCTCAGACACAGAACAGCACCCGCT ACACGGCCCCATCACCACGAAGCTCAGACACAGAACAGCACCCGCTACAC GGCCCCATCACCACGAAGCTCAGACACAGAACAGCACCCGCTCCACGGCC CCATCACCACGAAGCTCACACACAGAACAGCACCCGCTCCACGACCCCAT CACCACGAAGCTCACACACAGAACAGCACCCGCTACACAGCCCCATCACC ACGAAGCTCAGACACAGAACAGCACCCGCTACACGGCCCCATCACCACGA AGCTCAG	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02109.hp1 HG00733.hp1 HG02109.hp1	a0007 a0034 a0007 a0034	a0007c0009 a0034c0037 a0007c0009 a0034c0037	a0007c0009t0001 a0034c0037t0002 a0007c0009t0001 a0034c0037t0002	a0007c0009t0001g0232 a0034c0037t0002g0030 a0007c0009t0001g0232 a0034c0037t0002g0030	2	352	0.0057	-506	c.171 others(21): Show c.1716-12433_1716-11928del		ZC3H3	ENSG00000014164.7	transcript	ENST00000262577.6	protein_coding	4/11						chr8	TogoVar
CBLC_chr19_44772890_44805652	44801443	CCTCCCTC others(498): Show CCTCCCTCAGACCCAGGAGTCCATACTGCAGCCCCTCCTCCCTCAGACCC AGGAGTCCATACTCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCATACTG CAGCCCCTTCTCCCTCAGACCCAGGAGTCCATACTGCAGCCCCTCCTTCC TCAGACCCAGGAGTCCATACTGCAGCCCCTTCTCCCTCAGACCCAGGAGT CCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCATACTGCAGCCC CTCCTCCCTCAGACCCAGGAGTCCATACTCCAGCCCCTCCTCCCTCAGAC CCAGGAGTCCATACTGCAGCCCCTCCTCCCTCAGACCCAGGAGTCCATAC TGCAGCCCCTCCTTCCTCAGACCCAGTAGTCCATACTGCAGCCCCTCCTC CCTCAGACCCAGGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCTAGGA GTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGACCCCCAA CCCCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02559.hp1 HG01884.hp2 HG02559.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0116 a0001c0006t0001g0117 a0001c0006t0001g0116 a0001c0006t0001g0117	2	344	0.0058	-505	c.90 others(10): Show c.901_*1405del		CBLC	ENSG00000142273.13	transcript	ENST00000647358.2	protein_coding					792		chr19	TogoVar
DMRT2_chr9_1045357_1062552	1059012	ATTCAGCA others(498): Show ATTCAGCAGTGTGAAAACACTTTGAATTACTTAGAAATGATTTTGCTACT AATGACCTCATGTAAACCTCCTGGGATTCTCTGAATTGTTGCTTAAAATT AGCATCAATTTCAAAAAACAACAAGCCAAACCTTGGGTTGACTTTCAGTT TGTACTTGTAAAATAATACTTGGTTTTATTGAGTCAAATTTAGTTATTTG TATTATTGCAAAAGTCAGAGTGAATGGACGTTTGCCAGAGGCAAAGGATT TGAAAACAGGCAGAGATTCCAATAACTTTTAAAGATTATCATTAAGCGGA AAAATGTTTTCCAGCCAAGTGTGCCCTGATGTCAGAGACAGAATCTAACT CCAGTTTTCCCTCCCAGTCGTCTCTGCTTTGTCTATAATCACTAATTTTT GTCTTTCTATTGGAAATTTACTTTTTTGTTTCAAGTGTTAAATGTATCCT TAGCATTTAATTAAACTGCTTCAAAGGTAATGAGGGGGAACGTATTAGAA TAAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0022 a0001c0026t0022	a0001c0026t0022g0030 a0001c0026t0022g0030	1	488	0.0021	-505	c.17 others(11): Show c.1740_*2244del		DMRT2	ENSG00000173253.16	transcript	ENST00000358146.7	protein_coding					1461		chr9	TogoVar
DNPEP_chr2_219367043_219392912	219367952	TTGCACTC others(498): Show TTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAACACAC ACACACACACACACACACACACACACACACACACACAAATTTTCTCTGTA GAGATCTTGCATAACTTTATTGACAGATACTTGATTTTTATGCTTGTAGA AGTAAACCTTTTAAAAATTTCGTTTTCTACCCATTTTTTATTGGTATGTA GAAATAAAATTGATATTTGTATGTTGATTTTTCAGCCAGCTGTATTGATA AACTCTCTCATTACGGCCGGGTGCAGTGGCTTACACCTGTAATCCCAGCA CTTTTGGAGGCCGAGGCAGGCCGATCACGAGGCCAGGAGATCAAGACCAT CCTGGCCAGCATGGTGAAACCCTGTCTCTACTAAAAGTACAAAAATTACC TGGGTGTGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGACTGAGGC AGGAGAATGGCTTGAACCTTGGAGGCAGAGGTTGAAGTGAACCAAGATCA CACCAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(52): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00544.hp1 HG00597.hp2 HG00639.hp2 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01257.hp2 HG01346.hp2 HG01433.hp2 HG01952.hp2 HG01993.hp1 HG02080.hp1 HG02129.hp2 HG02132.hp1 HG02165.hp1 HG02300.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02683.hp2 HG03492.hp1 HG03704.hp2 HG03710.hp2 HG04204.hp2 NA18747.hp1 NA18945.hp1 NA18948.hp1 NA18949.hp2 NA18951.hp1 NA18957.hp2 NA18959.hp1 NA18964.hp2 NA18970.hp2 NA18974.hp2 NA18975.hp2 NA18984.hp1 NA18991.hp1 NA19003.hp2 NA19004.hp1 NA19009.hp1 NA19010.hp2 NA19012.hp2 NA19056.hp2 NA19064.hp1 NA19066.hp1 NA19074.hp1 NA19083.hp2 NA19089.hp1 NA20300.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0022 a0001c0001t0001 a0001c0001t0002 a0001c0001t0022	a0001c0001t0001g0039 a0001c0001t0002g0002 a0001c0001t0002g0007 others(15): Show a0001c0001t0001g0039 a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0011 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0048 a0001c0001t0002g0100 a0001c0001t0002g0107 a0001c0001t0002g0125 a0001c0001t0002g0130 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0144 a0001c0001t0002g0147 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0022g0169	55	370	0.1487	-505	c.58 others(11): Show c.5835_*6339del		DNPEP	ENSG00000123992.20	transcript	ENST00000273075.9	protein_coding					4090		chr2	TogoVar
EXOC3_chr5_438176_472290	467477	CCCCTCAG others(498): Show CCCCTCAGCCTAGAGGGTGCCTTCCTGATCCCCTCATGTCTGACATCCCC TCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCCTGTCTGACATCCCCTCAG CCTGGATGGCGCCCTCCTGGTCCCCTCCTGTCTGACATCCCCTCAGCCTA GAGGGCGCCCTCCTGGTCCCCTCCTGTCTGACATCCCCTCAGCCTGGATG GCGCCCTCCTGGTCCCCTCCTGTCTGACATCCCCTCAGCCTAGAGGGTGC CCTCCTGATCCCCTCATGTCTGACATCCCCTCAGCCTGGATGGCGCCCTC CTGGTCCCCTCCTGTCTGACATCCCCTCAGCCTAGAGGGTGCCCTCCTGG TCCCCTCATGTCTGACATCCCCTCAGCCTAGAGGGCGCCCTCCTGATCCC CTCATGTCTGACATCCCCTCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCG TATCTGACATCCCCTCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCCTGTC TGACAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	-505	c.58 others(10): Show c.580_*1084del		EXOC3	ENSG00000180104.16	transcript	ENST00000512944.6	protein_coding					188		chr5	TogoVar
P2RX5_chr17_3668227_3701155	3685656	CTCCCAGC others(498): Show CTCCCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTC CCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCC CAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTGAGAACAGGAG AACACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCCG CCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCC AACGTCCCCCGCCCCCCGCCCAGCCTGAGAACAGGAGAACACACAGCGGG GCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAA CGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCC AGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAAC GTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCC CCCAGG	C C	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18978.hp1 NA18980.hp2 others(3): Show NA18944.hp1 NA18978.hp1 NA18980.hp2 NA18998.hp1 NA19055.hp1 NA19077.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0076 a0001c0001t0002g0147 a0002c0002t0002g0002 others(1): Show a0001c0001t0002g0076 a0001c0001t0002g0147 a0002c0002t0002g0002 a0002c0002t0002g0343	6	362	0.0166	-505	c.981 others(17): Show c.981+1851_981+2355del		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11						chr17	TogoVar
PXMP2_chr12_132682587_132709985	132692905	CAGTTAGT others(498): Show CAGTTAGTTAGTGAGCGCCCTTGCCAGTTAGTGAGCGCCCTTGCCAGTTA GTTAGTGAGCTCCCTTAGCCAGTTAGTGAGCTCCCTTGCCAGTTAGTGAG CGCCCTTGCCAGTTAGTTAAGTGAGCGCCCTTAGCCAGTTAGATAGTGAG CGCCCTTAGCCAGTTAGTTAGTGAGCGCCCTTGCCAGTTAGTTAGTGAGC ACCCTTGCCAGTTAGTTAGTGAGCTCCCTTAGCCAGTTAGTGAGCTCCCT TAGTTAGTTAGTGAGCTCCCTTGCCAGTTAGTTAGTGAGCTCCCTTAGCC AGTTAGTTAGTGAGCTCCCTTAGCCAGTTAGTGAGCTCCCTTGCCAGTTA GTGAGTGCCCTTGCCAGTTAGTTAAGTGAGCGCCCTTAGCCAGTTAGATA GTGAGCGCCCTTAGCCAGTTAGTTAGTGAGCGCCCTTGCCAGTTAGTTAG TGAGCACCCTTGCCAGTTAGTTAGTGAGCTCCCTTAGCCAGTTAGTGAGC TCCCTT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03471.hp1 HG03139.hp1 HG03471.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0070 a0001c0005t0005g0071 a0001c0005t0005g0070 a0001c0005t0005g0071	2	350	0.0057	-505	c.236 others(17): Show c.236+2545_237-2459del		PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr12	TogoVar
SCUBE1_chr22_43192280_43348372	43280735	TCCTCGGC others(498): Show TCCTCGGCCACCCTCCTGTCACCTCCCTCATTGGCCACCCTCCTGTCATC TCCTCCTCAGCTACCCTGTCACCTCCCTCAGCCATCCTCCTGTCACCTCC CTCTTTGGCCACCCTCCTGTCACCTCCTCCTCAGTCACCCTGTCACCTCC CTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTACCCTGTCACCTCCCTC AGCCATCCTCCTGTCACCTCCCTCTTTGGCCACCCTCCTGTCACCTCCTC CTCAGTCACCCTGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTC AGCTATCCTGTCACCTCCCTCAGCCATCCTCCTGTCACCTCCCTTGGCCA CCCTCCTGTCACCTCCTCCTCAGTCACCCTGTCACCTCCCTTGGCCACCC TTCTGTCATCTCCTCCTCAGCTATCCTGTCACCTCCCTCAGCCATCCTCC TGTCACCTCCCTTGGCCACCCTCCTGTCACCTCCTCCTCAGTCACCCTGT CACCTC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00544.hp2 HG00738.hp1 others(24): Show HG00280.hp1 HG00544.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01074.hp2 HG01361.hp2 HG01928.hp2 HG01975.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02056.hp2 HG02074.hp2 HG02148.hp1 HG02155.hp2 HG02258.hp1 HG02738.hp1 HG03492.hp2 HG03710.hp1 HG04204.hp2 NA18990.hp1 NA19007.hp1 NA19009.hp2 NA19064.hp1 NA19068.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0010 a0015	a0001c0003 a0001c0004 a0001c0012 others(6): Show a0001c0003 a0001c0004 a0001c0012 a0002c0005 a0002c0009 a0002c0046 a0003c0001 a0010c0029 a0015c0033	a0001c0003t0003 a0001c0004t0004 a0001c0004t0037 others(11): Show a0001c0003t0003 a0001c0004t0004 a0001c0004t0037 a0001c0004t0041 a0001c0004t0088 a0001c0012t0043 a0002c0005t0001 a0002c0009t0090 a0002c0046t0069 a0003c0001t0001 a0003c0001t0003 a0003c0001t0045 a0010c0029t0007 a0015c0033t0009	a0001c0003t0003g0123 a0001c0003t0003g0227 a0001c0004t0004g0120 others(23): Show a0001c0003t0003g0123 a0001c0003t0003g0227 a0001c0004t0004g0120 a0001c0004t0037g0249 a0001c0004t0041g0180 a0001c0004t0088g0276 a0001c0012t0043g0161 a0002c0005t0001g0094 a0002c0009t0090g0270 a0002c0046t0069g0192 a0003c0001t0001g0063 a0003c0001t0001g0197 a0003c0001t0001g0208 a0003c0001t0001g0217 a0003c0001t0001g0219 a0003c0001t0001g0225 a0003c0001t0001g0230 a0003c0001t0001g0232 a0003c0001t0001g0243 a0003c0001t0001g0244 a0003c0001t0001g0245 a0003c0001t0003g0002 a0003c0001t0045g0054 a0010c0029t0007g0095 a0010c0029t0007g0221 a0015c0033t0009g0061	27	280	0.0964	-505	c.484 others(18): Show c.484+9806_484+10310del		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21						chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43280739	CGGCCACC others(498): Show CGGCCACCCTCCTGTCACCTCCCTCATTGGCCACCCTCCTGTCATCTCCT CCTCAGCTACCCTGTCACCTCCCTCAGCCATCCTCCTGTCACCTCCCTCT TTGGCCACCCTCCTGTCACCTCCTCCTCAGTCACCCTGTCACCTCCCTTG GCCACCCTTCTGTCATCTCCTCCTCAGCTACCCTGTCACCTCCCTCAGCC ATCCTCCTGTCACCTCCCTCTTTGGCCACCCTCCTGTCACCTCCTCCTCA GTCACCCTGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGCT ATCCTGTCACCTCCCTCAGCCATCCTCCTGTCACCTCCCTTGGCCACCCT CCTGTCACCTCCTCCTCAGTCACCCTGTCACCTCCCTTGGCCACCCTTCT GTCATCTCCTCCTCAGCTATCCTGTCACCTCCCTCAGCCATCCTCCTGTC ACCTCCCTTGGCCACCCTCCTGTCACCTCCTCCTCAGTCACCCTGTCACC TCCCTT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02622.hp2 HG02615.hp2 HG02622.hp2	a0002 a0007 a0002 a0007	a0002c0002 a0007c0041 a0002c0002 a0007c0041	a0002c0002t0002 a0007c0041t0081 a0002c0002t0002 a0007c0041t0081	a0002c0002t0002g0265 a0007c0041t0081g0236 a0002c0002t0002g0265 a0007c0041t0081g0236	2	280	0.0071	-505	c.484 others(18): Show c.484+9802_484+10306del		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21						chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43280749	CCTGTCAC others(498): Show CCTGTCACCTCCCTCATTGGCCACCCTCCTGTCATCTCCTCCTCAGCTAC CCTGTCACCTCCCTCAGCCATCCTCCTGTCACCTCCCTCTTTGGCCACCC TCCTGTCACCTCCTCCTCAGTCACCCTGTCACCTCCCTTGGCCACCCTTC TGTCATCTCCTCCTCAGCTACCCTGTCACCTCCCTCAGCCATCCTCCTGT CACCTCCCTCTTTGGCCACCCTCCTGTCACCTCCTCCTCAGTCACCCTGT CACCTCCCTTGGCCACCCTTCTGTCATCTCCTCCTCAGCTATCCTGTCAC CTCCCTCAGCCATCCTCCTGTCACCTCCCTTGGCCACCCTCCTGTCACCT CCTCCTCAGTCACCCTGTCACCTCCCTTGGCCACCCTTCTGTCATCTCCT CCTCAGCTATCCTGTCACCTCCCTCAGCCATCCTCCTGTCACCTCCCTTG GCCACCCTCCTGTCACCTCCTCCTCAGTCACCCTGTCACCTCCCTTGGCC ACCCTT	C C	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0076 a0001c0010t0076	a0001c0010t0076g0040 a0001c0010t0076g0040	1	280	0.0036	-505	c.484 others(18): Show c.484+9792_484+10296del		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21						chr22	TogoVar
SDHA_chr5_213320_262082	251867	ACCTGCCC others(498): Show ACCTGCCCTGTGGAGGAAATGCCAGTTTATTAAATAACGAGTAAGCCACC GTTTCAAACCTGCCCTGTGGAGGAAATGCCAGTTTATTAAATAACGAGTA AGCCACCGTTTCAAGCCTGCCCTGTGGAGGAAATGCCAGTTTATTAAATA ACGAGTAAGCCACCGTTTCAGACCTGCCCTGTGGTGGAAATGCCAGTTTA TTAAATAACGAGTAAGCCACTGTTTCAAACCTGCCCTGTGGAGGAAATGC CAGTTTATTAACGAGTAAGTCACTGTTTCAAACCTGTCCTGTGGAGGAAA TGCCAGTTTATTAACGAATAAGCCACCGTTTCAAACCTGCCCTGTGAAGG AAATGCCAGTTTATTAAATAAGGAGTAAGCCACCGTTTCAAGCCTGCCCT GTGGAGGAAATGCCCGTTTATTAAATAACGAGTAAGCCACCGTTTCAAGC CTGCCCTGTGGAGGAAATGCCCGTTTATTAAATAAGGAGTAAGCCACCAT TTCAAG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01943.hp2 NA18939.hp1 others(8): Show HG00544.hp1 HG01943.hp2 NA18939.hp1 NA18952.hp2 NA18973.hp2 NA18979.hp2 NA18981.hp2 NA18984.hp1 NA19004.hp2 NA19068.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0004 a0001c0001t0002g0047 a0001c0001t0002g0069 others(3): Show a0001c0001t0002g0004 a0001c0001t0002g0047 a0001c0001t0002g0069 a0001c0001t0002g0080 a0001c0001t0002g0085 a0001c0001t0005g0004	11	266	0.0414	-505	c.179 others(17): Show c.1794+456_1794+960del		SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding	13/14					INFO_REALIGN_3_PRIME	chr5	TogoVar
STMN3_chr20_63634712_63658424	63636171	ATCTCTAC others(498): Show ATCTCTACTAAAAATACAAAATTAGCCAGGTGGTGCATGCCTGTAATCCC AGCTACTCGGGAGGCCGAGGCTGGAGAATCGCTTGAATCCAGGAGGTGGA GGTTACAGTGAGTCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAG AGCGAAACTCTGTCTCAAAAAATAAAATAAAATAAAATACATTCACAAGG CCGGGCACTGTGGCTCACGCCTGTAATCCCAGCTACTTGGGAGACTGAGG CAGGAGAATCGCTTATAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGAT CACACCGCTACACTCTAGCTTGGGCAACAAGAGTGAAACTCCGTCTCAAA AAAGTAAAATAAGGCCAGGCATGGTGGCCCACACCTGTAATCCCAGCACT TTAGGAGGCCAAGGCGGTCGGATCACGAGGTCAGGAGTTCGAGACCAGCC TGGCCAACATGATGAAACCCCGTCTCTACTAGCCTAGCCAACATGGGGAA ACCCTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(98): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01256.hp2 HG01257.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01952.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02074.hp2 HG02109.hp2 HG02148.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp2 HG02683.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03239.hp2 HG03453.hp2 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04204.hp2 NA18906.hp1 NA18944.hp2 NA18946.hp2 NA18970.hp2 NA18973.hp1 NA18984.hp1 NA19067.hp1 NA19080.hp1 NA19081.hp2 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(18): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0001t0019 a0001c0001t0029 a0001c0001t0032 a0001c0001t0033 a0001c0001t0035 a0001c0001t0039 a0001c0001t0054 a0001c0001t0055 a0001c0001t0058 a0001c0001t0062 a0001c0002t0001 a0001c0002t0013	a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0032 others(79): Show a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0067 a0001c0001t0001g0100 a0001c0001t0001g0135 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0167 a0001c0001t0001g0171 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0231 a0001c0001t0001g0269 a0001c0001t0001g0285 a0001c0001t0004g0141 a0001c0001t0005g0007 a0001c0001t0005g0158 a0001c0001t0005g0174 a0001c0001t0005g0200 a0001c0001t0006g0017 a0001c0001t0006g0251 a0001c0001t0007g0008 a0001c0001t0009g0040 a0001c0001t0009g0156 a0001c0001t0009g0196 a0001c0001t0009g0201 a0001c0001t0012g0024 a0001c0001t0012g0237 a0001c0001t0012g0245 a0001c0001t0012g0249 a0001c0001t0012g0286 a0001c0001t0013g0050 a0001c0001t0013g0051 a0001c0001t0013g0181 a0001c0001t0017g0103 a0001c0001t0019g0042 a0001c0001t0019g0290 a0001c0001t0019g0291 a0001c0001t0029g0258 a0001c0001t0029g0264 a0001c0001t0032g0148 a0001c0001t0032g0186 a0001c0001t0033g0204 a0001c0001t0033g0216 a0001c0001t0035g0236 a0001c0001t0035g0239 a0001c0001t0039g0250 a0001c0001t0039g0252 a0001c0001t0054g0235 a0001c0001t0055g0271 a0001c0001t0058g0128 a0001c0001t0062g0230 a0001c0002t0001g0180 a0001c0002t0001g0183 a0001c0002t0001g0187 a0001c0002t0013g0182	101	388	0.2603	-505	c.46 others(11): Show c.4662_*5166del		STMN3	ENSG00000197457.10	transcript	ENST00000370053.3	protein_coding					3540		chr20	TogoVar
TMEM132D_chr12_129066726_129909025	129087979	GGGTGTCC others(498): Show GGGTGTCCTCCATGACCGGGGTGTCCTCCATGACCGGGTGTCCTCCATGA CCGGGGTGTCCTCTATGACCGGGTGTCCTCCATGACCGGGGTGTCCTCCC TGACCGGGTGTCCTCCCTGACCGGGGTGTCCTCCCTGACCGGGTGTCCTC CATGACCGGGGTGTCCTCCCTGACCGGGTGTCCTCCCTGACCGGGTGTCC TCCCTGACCGGGGTGTCCTCCATGACCGGGTGTCCTCCATGACCGGGTGT CCTCCATGACCGGGGTGTCCTCTATGACTGGGTGTCCTCCCTGACCGGGG TGTCCTCTATGACCGGGTGTCCTCCATGACCGGGTGTCCTCCCTGACCGG GGTGTCCTCTATGACCGGGTGTCCTCCATGACCGGGGTGTCCTCCATGAC CGGGGTGTCCTCTATGACCGGGTGTCCTCCCTGACTGGGGTGTCCTCTAT GACCGGGTGTCCTCCATGACCGGGTGTCCTCCATGACCGGGGTGTCCTCC ATGACC	G G	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0044 a0001c0001t0021g0044	1	94	0.0106	-505	c.144 others(19): Show c.1444-3782_1444-3278del		TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	5/8						chr12	TogoVar
TRPM2_chr21_44348621_44447644	44396157	GGCTGTGG others(498): Show GGCTGTGGAGGGGTGTGGAGGCTGTGGAGGGGTGTGGAGGCTGTGGAGGG GTGTGGAGGCTGTGGAGGGGTGTGGAGGGGTGTGGAGGGCTGTGGAGGGG TGTGGAGGGGTGTGGAGGGCTGTGGAGGGATGTGGAGGGCTGTGGAGGCT GTGGAGGGGTGTGGAGGATGTGGAGGGGTGTGGAGGGCTGTGGAGGGATG TGGAGGGGTGTGGAGGGGTGTGGAGGGGTGTGGAGGGCTGTGGAGGGATG TGGAGGCTTGTGGAGGGCTGTGGAGGGATGTGGAGGCTGTGGAGGGGTGT GGAGGGGTGTGGAGGGGTGTGGAGGCTGTGGAGGGATGTGGAGACTGTGG AAGGGTGTGGAGGCTGTGGAGGGGTGTGGAGGCTGTGGAGGGGTGTGGAG GCTGTGAAGGGGTGTGGAGGCTGTGGAGGGGTGTAGAGGGGTGTAGAGGG TTGTGGAGGCTGTGGAGGGGTGTGGAGGGCTGTGGAGGGGTGTGGAGGGG TGTGGA	G G	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02273.hp1 HG02293.hp2 HG02004.hp1 HG02273.hp1 HG02293.hp2	a0003 a0009 a0003 a0009	a0003c0007 a0009c0015 a0003c0007 a0009c0015	a0003c0007t0003 a0009c0015t0002 a0003c0007t0003 a0009c0015t0002	a0003c0007t0003g0001 a0003c0007t0003g0003 a0009c0015t0002g0002 a0003c0007t0003g0001 a0003c0007t0003g0003 a0009c0015t0002g0002	3	44	0.0682	-505	c.193 others(18): Show c.1932+608_1933-1084del		TRPM2	ENSG00000142185.18	transcript	ENST00000397928.6	protein_coding	12/31					INFO_REALIGN_3_PRIME	chr21	TogoVar
TRPM6_chr9_74717495_74892921	74853523	TTCTGCCT others(498): Show TTCTGCCTTGGGATGCTGTTAATCTATAACCTTACCCCCAACCCTGTGCT CTCTGAAACATGTGCTGTGTCCACTCAGGGTTAAATGGATTAAGGGCGGT GCAAGATGTGCTTTTTTAAACAGATGCTTGAAGGCAGCATGCTCGTTAAG AGTCATCGCCACTCCCTAATCTCAAGTACCCAGGGACACAAACACTGCGG AAGGCCGCAGGGTCCTCTGCCTAGGAAAACCAGAGACCCTTGTTCACATG TTTATCTGCTGAGCTTCCCTCCACTATTGTCCTATGACCCTGCCAAATCC CCCTCTCCGAGAAACACCCAAGAATGATCAATAAATACTAAAAAAATAAA ATAAAATAAAATAAATGCATAAAAGTGTTTTGAAAAGTAAAAACAATTTT TAAAAGATAAATAAAGTATAGGAAACTTACCCTATCAGATATCAAGACAT ATATTACAAAACTATAATAATGAAACAGAGTGGCATTTGACAAGCATAGA AGTAGA	T T	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0003 a0004c0008t0003	a0004c0008t0003g0110 a0004c0008t0003g0110	1	286	0.0035	-505	c.152 others(17): Show c.152+1499_152+2003del		TRPM6	ENSG00000119121.22	transcript	ENST00000360774.6	protein_coding	3/38						chr9	TogoVar
ADARB2_chr10_1172313_1742525	1237037	TCTGCCTC others(497): Show TCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCGGTGGTTAATTCCCTCT TGCCTCCGGTGGTTAACTCCCCCCTGCCTCCGGTTGTTAACTCCCCCCTG CCTCCGGGTGTTAACTCCCCTCTCCCTCCGGGTGTTAACTCCCCCCTGCC TCCGGGTGTTAACTCCCCTCTCCCTCCGGTGTTTACTCCCCTCTGCCTCC CGGTGTTTACTCCCCTCTGCCCTCCCGGTGTTTACTCCCCCCTGCCTCCC GGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGG TGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTG TTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTT TACTCCCCTCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTA CTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACT CCCCC	T T	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0085 a0001c0001t0003g0085	1	106	0.0094	-504	c.136 others(19): Show c.1362-3696_1362-3193del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111163	CACCTGCC others(497): Show CACCTGCCCGCCGTGAGCACCTCCCTCCTAATCCCTCCAGACAACCTGCC CACCACAGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACAG GCACCTCCCTCCTAATCCCACCAGACAACCTGCCCCCCCGGGAACCATCC CTCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAAT CCCACCAGACAACCTGCCCACCACGGACACCTCCCTCCTAATCCCACCAG ACAACCTGCCCACCACGGACACCTCCCTCCTAATCCCACCAGACAACCTG CCCACCACGGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCAC AGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGGACACCT CCCTCCTAATCCCACCAGACAACCTGCCCACCACGGACACCTCCCTCCTA ATCCCACCAGACAACCTGCCCACCACGGACACCTCCCTCCTAATCCCACC AGACA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00738.hp1 HG01496.hp1 others(14): Show HG00099.hp2 HG00738.hp1 HG01496.hp1 HG02080.hp2 HG02145.hp1 HG02698.hp1 HG03704.hp2 NA18747.hp1 NA18942.hp2 NA18969.hp1 NA18980.hp2 NA18983.hp1 NA18993.hp2 NA19005.hp2 NA19060.hp1 NA19060.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0005 a0001c0001t0010 a0001c0001t0024 others(6): Show a0001c0001t0005 a0001c0001t0010 a0001c0001t0024 a0001c0001t0048 a0001c0002t0001 a0001c0002t0007 a0001c0002t0014 a0001c0002t0072 a0001c0006t0023	a0001c0001t0005g0039 a0001c0001t0010g0324 a0001c0001t0024g0044 others(14): Show a0001c0001t0005g0039 a0001c0001t0010g0324 a0001c0001t0024g0044 a0001c0001t0048g0284 a0001c0002t0001g0069 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0161 a0001c0002t0001g0167 a0001c0002t0001g0189 a0001c0002t0001g0202 a0001c0002t0001g0249 a0001c0002t0007g0271 a0001c0002t0007g0285 a0001c0002t0014g0156 a0001c0002t0072g0191 a0001c0006t0023g0114	17	368	0.0462	-504	c.401 others(17): Show c.401+8330_401+8833del		ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr10	TogoVar
ANKRD11_chr16_89262630_89495561	89429382	GACTCTCA others(497): Show GACTCTCAACTCTCGCGCTCAGACGTTCTAGTACACAGCAGGGACTCTCA ACTCTCGCGCTCAGACGTTCTAGTACACAGCAGGGACTCTCAACTCTCGC GCTCAGTCGTTCTAGTACACAGCAGGGACTCTCAACTCTCAGGCTCAGAC GTTCTAGTACACAGCAGGGACTCTCAACTCTCGCGCTCAGTCGTTCTAGT ACACAGCAGGGACTCTCAACTCTCAGGCTCAGTCGTTCTAGTACACAGCA GGGACTCTCAACTCTCGCGCTCAGTCGTTCTAGTACACAGCAGGGACTCT CAACTCTCACGCTCAGTCGTTCTAGTACACAGCAGGGACTCTCAACTCTC ACGCTCAGTCGTTCTAGTACACAGCAGGGACTCTCAACTCTCACGCTCAG TCGTTCTAGTACACAGCAGGTACTCTCAACTCTCGCGCTCAGACGTTCTA GTACACAGCAGGGACTCTCAACTCTCACGCTCAGACGTTCTAGTACACAG CAGGT	G G	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0153 a0002c0002t0002g0153	1	310	0.0032	-504	c.-14 others(21): Show c.-144-11518_-144-11015del		ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	1/12						chr16	TogoVar
ART1_chr11_3640128_3669416	3653862	ATCCTCAC others(497): Show ATCCTCACTGCCATTCTCCCATCAGACATCAAGTCTTGTAAATTCCACCT CCTACCTCTGTCTATCCTCACTGCCATTCTCCCATCAGACATCAAGTCTT GTAAATTCCACCTCCTACCTCTGTCTGTCCTCACTGCCATTCTCCCATCA GACATCAAGTCTTGTAAATTCCACCTCCTACCTCTGTCTGTACTCACTGC CATTCTCCCATCAGACATCAAGTTTTGTAAATTCCAACTCCTACCTCTGT CTATCCTCACTGCCATTCTCCCATCAGACATCAAGTCTTGTAAATTCCAC CTCCTACCTCTGTCTATCCTCACTGCCATTCTCCCATCAGACATCAAGTC TTGTAAATTCCACCTCCTACCTCTGTCTATCCTCACTGCCATTCTCCCAT CAGACATCAAGTCTTGTAAATTCCACCTCCTACCTCTGTCTATCCTCACT GCCATTCTCCCATCAGACATCAAGTCTTGTAAATTCCACCTCCTACCTCT GTCTG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02965.hp1 HG03225.hp1 HG02257.hp1 HG02965.hp1 HG03225.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0018 a0003c0003t0002g0062 a0003c0003t0002g0018 a0003c0003t0002g0062	3	394	0.0076	-504	c.-52 others(17): Show c.-52-5109_-52-4606del		ART1	ENSG00000129744.3	transcript	ENST00000250693.2	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr11	TogoVar
ATP10A_chr15_25673712_25868327	25758096	CCACCTGC others(497): Show CCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCA TTCCTATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCT AACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTC CACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCAC CTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCC GACCACCTGATCCACCCTAACTCATTCCAATCACCTGCTCCACCCTAACT CATTCCGACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACC CTAACTCATTCCTATCACCTGCTCCACCCTAACTCATTCCGACCACCTGC TCCACCCTAACTCATTCCTATCACCTGCTCCACCCTAACTCATTCCGACC ACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATT CCGAT	C C	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0169 a0002c0002t0001g0169	1	300	0.0033	-504	c.654 others(19): Show c.654+22419_655-21956del		ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20						chr15	TogoVar
CHMP1A_chr16_89639435_89662708	89647572	TGCGGGGT others(497): Show TGCGGGGTCAGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGT CGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAG AAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCC GCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGT GGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCC AGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGG GTCCGTGGAGAAAAGGCCGCCGACGTGGACACCCAGCGCGGGGTCGGTGG AGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGG CCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGAC GTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGAC CCAGC	T T	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	392	0.0026	-504	c.253 others(15): Show c.253-745_253-242del		CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6						chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89647816	GGACCCAG others(497): Show GGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAG CGCGGGGTCCGTGGAGAAAAGGCCGCCGACGTGGACACCCAGCGCGGGGT CGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAG AAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCC GCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGT GGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCC AGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGG GTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGG AGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGG CCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGAC GTGGA	G G	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0023 a0001c0001t0003g0023	1	392	0.0026	-504	c.253 others(15): Show c.253-989_253-486del		CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6						chr16	TogoVar
CTDP1_chr18_79674803_79759503	79745262	TGCGTCCC others(497): Show TGCGTCCCTCCCGTGCGCGTTCTGTCCCTGCGTCCCTCCCGTGCGCGTTC TGTCCCTGCGTCCCTCCCGTGCGCGTTCTGTGCCCGCGTCCCTCCCGTGC GCGTTCTGTGCCCGCGTCCCTCCCGTGCGCGTTCTGTCCCCGCGTCCCTC CCGTGCGCGTTCTGTCCCCGCGTCCCTCCCGTGCGCGTTCTGTCCCCGCG TCCCTCCCGTGCGCGTTCTGTCCCCGCGTCCCTCCCGTGCGCGTTCTGTC CCCGCGTCCCTCCCGTGCGGGTTCTGTCCCCGCGTCCCTCCCGTGCGCGT TCTGTCCCCGCGTCCCTCCCGTGCGCGTTCTGTGCCCGCGTCCCTCCCGT GCGCGTTCTGTGCCCGCGTCCCTCCCGTGCGCGTTCTGTGCCCGCGTCCC TCCCGTGCGCGTTCTGTGCCCGCGTCCCTCCCGTGCGCGTTCTGTGCCCG CGTCCCTCCCGTGCGCGTTCTGTGCCCGCGTCCCTCCCGTGCGCGTTCTG TCCCC	T T	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03225.hp1 HG03516.hp2 HG02818.hp2 HG03225.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0022 a0001c0001 a0001c0022	a0001c0001t0006 a0001c0022t0001 a0001c0001t0006 a0001c0022t0001	a0001c0001t0006g0088 a0001c0001t0006g0089 a0001c0022t0001g0344 a0001c0001t0006g0088 a0001c0001t0006g0089 a0001c0022t0001g0344	3	378	0.0079	-504	c.274 others(19): Show c.2748-8362_2748-7859del		CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12					INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDP1_chr18_79674803_79759503	79752619	CGGCTGGT others(497): Show CGGCTGGTTATGCAGAGGCTCGTAAGGAAAGCCTAGTGGCACCGGCTGGT TATGCAGAGGCTCGTAAGGAAAGCCTAGTGGCACCGGCTGGTTATGCAGA GGCTCCTAAGGAAAGCCTAGTGGCACCCGCTGGTTATGCAGAGGCTCCTA AGGAAAGCCTAGTGGCACCGGCTGGTTATGCAGAGGCTCGTAAGGAAAGC CTAGTGGCACCGGCTGGTTATGCAGAGGCTCCTAAGGAAAGCCTAGTGGC ACCGGCTGGTTATGCAGAGGCTCGTAAGGAAAGCCTAGTGGCACCGGCTG GTTATGCAGAGGCTCGTAAGGAAAGCCTAGTGGCACCGGCTGGTTATGCA GAGGCTCCTAAGGAAAGCCTAGTGGCACCGGCTGGTTATGCAGAGGCTCC TAAGGAAAGCCTAGTGGCACCGGCTGGTTATGCAGAGGCTCCTAAGGAAA GCCTAGTGGCACCGGCTGGTTATGCAGAGGCTCGTAAGGAAAGCCTAGTG GTACT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp2 NA20300.hp2 HG01255.hp2 NA20300.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0085 a0001c0018t0001g0086 a0001c0018t0001g0085 a0001c0018t0001g0086	2	378	0.0053	-504	c.274 others(17): Show c.2748-973_2748-470del		CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12					INFO_REALIGN_3_PRIME	chr18	TogoVar
DGKZ_chr11_46342463_46385551	46355354	CGCCTCAG others(497): Show CGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCC GGCTATTTTCTTTCTTAAAACTTTCAGTAAACTGGGGAATTGTTTCCCAG GAACAAACACTTTCTCCTTCAAGCCTGCAACACTCCCTTGAGAGAGACGA GGGTGGGCATTAGCCCTATTTATCAGATCAGGAAACTGAGGCTGAGGCAG GTTAAAAGGCTTAGCTTGAGGTCATGTAGCTGGTCAGAGGCAGATCCTCT GGGCCTTTGAAGCTAAACCTACTGTGAAGGCCTTTGTCCCCTGTGTGAGT AGTGTGGAAGCCTGGAGAGTGGGGTGGGGCCCTGGGGGCTGATGGGGGAG GGAGCAACATGGTCAGAAAGTTGAGGGGGGAGGTGTTAAATTTTTTTTTT TTCTTTTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGTTGGAGCGCAA TGGCGCGGTCTCGGCTCACCGCAACCCCTGCCTCTGAGGTTCAAGCGATT CACCT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	272	0.0037	-504	c.161 others(17): Show c.161+7550_161+8053del		DGKZ	ENSG00000149091.15	transcript	ENST00000456247.7	protein_coding	1/30					INFO_REALIGN_3_PRIME	chr11	TogoVar
DPH7_chr9_137549444_137583925	137565424	ACTCTGTC others(497): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCC CCTGGGTGACTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGATGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC GGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAG GAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACT	A A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	340	0.0029	-504	c.641 others(15): Show c.641-774_641-271del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
DPH7_chr9_137549444_137583925	137567454	TGGGTGAC others(497): Show TGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGA AGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCCGTGAGGAAGCTCCCCGGGGTGACTCTGTCCG TGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTG ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTG TGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTG ACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCT CCCCG	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00733.hp2 HG00735.hp1 others(33): Show HG00558.hp2 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01106.hp2 HG01168.hp2 HG01169.hp2 HG01243.hp1 HG01257.hp1 HG01943.hp1 HG02015.hp2 HG02055.hp1 HG02145.hp2 HG02273.hp1 HG02630.hp2 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG03098.hp2 HG03225.hp1 HG03688.hp2 HG03942.hp2 HG04115.hp1 HG04204.hp2 NA18747.hp1 NA18950.hp2 NA18984.hp1 NA18999.hp2 NA19009.hp1 NA19010.hp2 NA19054.hp1 NA20752.hp1 NA20805.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0010 a0001c0001 a0007c0010	a0001c0001t0001 a0007c0010t0001 a0001c0001t0001 a0007c0010t0001	a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0034 others(31): Show a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0047 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0066 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0158 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0179 a0001c0001t0001g0192 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0211 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0007c0010t0001g0147	36	340	0.1059	-504	c.641 others(17): Show c.641-2804_641-2301del		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
EDDM13_chr19_56267748_56315454	56306537	TGGCTTCT others(497): Show TGGCTTCTCCCACGTCGCCAGAGAAAGTACTAAGGACAGATGGGAGATTT CTCTTCCCTTGATAGCTACAAAGAGGCTCCTCCCTGGCCTCTCCCACGTC GCCAGAGAAAGTACTAAGGACAGATGGGAGACTTCTCTTCCCTCGGTATC TGCAAAGAGGGTCCCCCCCGGCCTCTCCCCTGTTGCCAGAGAAAGTACTA AGGACAGATGGGAGATTTCTCTTCCCTTGATAGCTACAAAGAGGCTCCTC CCTGGCTTCTCCCACGTCGCCAGAGAAAGTACTAAGGACAGATGGGAGAT TTCTCTTCCCTTGATAGCTACAAAGAGGCTCCTCCCTGGCCTCTCCCACG TCGCCAGAGAAAGTACTAAGGACAGATGGGAGACTTCTCTTCCCTTGATA GCTACAAAGAGGCTCCTCCCTGGCCTCTCCCACGTCGCCAGAGAAAGTAC TAAGGACAGATGGGAGACTTCTCTTCCCTCGGTATCTGCAAAGAGGGTCC CCCCC	T T	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG04115.hp2 NA18960.hp2 HG02129.hp1 HG04115.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0229 a0001c0001t0003g0296 a0001c0001t0005g0175 a0001c0001t0003g0229 a0001c0001t0003g0296 a0001c0001t0005g0175	3	396	0.0076	-504	c.461 others(17): Show c.461+1711_461+2214del		EDDM13	ENSG00000267710.9	transcript	ENST00000649256.2	protein_coding	14/14					INFO_REALIGN_3_PRIME	chr19	TogoVar
EDDM13_chr19_56267748_56315454	56306552	CGCCAGAG others(497): Show CGCCAGAGAAAGTACTAAGGACAGATGGGAGATTTCTCTTCCCTTGATAG CTACAAAGAGGCTCCTCCCTGGCCTCTCCCACGTCGCCAGAGAAAGTACT AAGGACAGATGGGAGACTTCTCTTCCCTCGGTATCTGCAAAGAGGGTCCC CCCCGGCCTCTCCCCTGTTGCCAGAGAAAGTACTAAGGACAGATGGGAGA TTTCTCTTCCCTTGATAGCTACAAAGAGGCTCCTCCCTGGCTTCTCCCAC GTCGCCAGAGAAAGTACTAAGGACAGATGGGAGATTTCTCTTCCCTTGAT AGCTACAAAGAGGCTCCTCCCTGGCCTCTCCCACGTCGCCAGAGAAAGTA CTAAGGACAGATGGGAGACTTCTCTTCCCTTGATAGCTACAAAGAGGCTC CTCCCTGGCCTCTCCCACGTCGCCAGAGAAAGTACTAAGGACAGATGGGA GACTTCTCTTCCCTCGGTATCTGCAAAGAGGGTCCCCCCCGGCCTCTCCC CTGTT	C C	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	396	0.0025	-504	c.461 others(17): Show c.461+1838_461+2341del		EDDM13	ENSG00000267710.9	transcript	ENST00000649256.2	protein_coding	14/14					INFO_REALIGN_3_PRIME	chr19	TogoVar
ERC1_chr12_986223_1500931	1121640	GATCTCTA others(497): Show GATCTCTATCTCTATCTCTATCTCTATCTCTATCTCTATCTATCTCTATC TCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCTATCTC TATCTATCTCTATCTCTATCTCTATCTATCTCTATCTCTATCTATCTCTA TCTCTATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATC TATCTCTATCTCTATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTA TCTCTATCTCTATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATC TATCTCTATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTA TCTCTATCTCTATCTCTATCTATCTCTATCTCTATCTCTATCTATCTCTA TCTCTATCTATCTATCTCTATCTCTATCTCTATATCTCTATCTCTATCTG TGTCTCTATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTA TCTCT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02145.hp2 HG02280.hp2 others(7): Show HG01891.hp1 HG02145.hp2 HG02280.hp2 HG02717.hp1 HG02895.hp1 HG02965.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03516.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0013 a0002c0002 others(1): Show a0001c0001 a0001c0013 a0002c0002 a0009c0008	a0001c0001t0001 a0001c0001t0005 a0001c0001t0074 others(7): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0074 a0001c0013t0063 a0002c0002t0047 a0002c0002t0055 a0002c0002t0060 a0002c0002t0066 a0002c0002t0127 a0009c0008t0041	a0001c0001t0001g0076 a0001c0001t0005g0041 a0001c0001t0074g0039 others(7): Show a0001c0001t0001g0076 a0001c0001t0005g0041 a0001c0001t0074g0039 a0001c0013t0063g0077 a0002c0002t0047g0104 a0002c0002t0055g0137 a0002c0002t0060g0040 a0002c0002t0066g0139 a0002c0002t0127g0155 a0009c0008t0041g0140	10	162	0.0617	-504	c.156 others(19): Show c.1569+5630_1569+6133del		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
LYRM4_chr6_5103419_5265950	5135010	GCTGTGGA others(497): Show GCTGTGGAGGGTGCGGATCGCTCCCGGGGCTGTGGAGGGTGCGGATCGCT CCCGGGACTGTGGAGGGTGCGGTTCACTCCCGGGACTGTGGAGGGTGCGG ATCGCTCCCGGGACTGTGGAGGGTGCGGATCGCTCCCGGGGCTGTGGAGG GTGCGGTTCTCTCCCGGGGCTGTGGAGGGTGCGGTTCACTCCCGGGGCTG TGGAGGGTGCGGTTCACTCCCGGGGCTGTGGAGGGTGCGGTTCACTCCCG GGACTGTGGAGGGTGCGGATCGCTCCTGGGGCTGTGGAGGGTGCGGTTCA CTCCCGGGACTGTGGAGGGTGCGGATCGCTCCCGGGACTGTGGAGGGTGC GGATCGCTCCCGGGGCTGTGGAGGGTGCGGTTCTCTCCCGGGGCTGTGGA GGGTGCGGTTCACTCCCGGGGCTGTGGAGGGTGCGGTTCACTCCCGGGAC TGTGGAGGGTGCGGATCGCTCCTGGGGCTGTGGAGGGTGCGGTTCACTCC CGGGA	G G	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0088 a0001c0001t0004g0088	1	286	0.0035	-504	c.208 others(19): Show c.208-26023_208-25520del		LYRM4	ENSG00000214113.11	transcript	ENST00000330636.9	protein_coding	2/2						chr6	TogoVar
MAD1L1_chr7_1810795_2237945	1991285	ACCGCTGG others(497): Show ACCGCTGGGTGCCTGAGCACCCGCCCCACCAGAGCGCCACTGCTGGCCTC ACGAGCACCGCTGGGTGCCTGAGCACCCGCCCCACCAGAGCGCCACTGCT GGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCCGCCCCACCAGAGCGCC ACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCCGCCCCACCAG AGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCACCTGCCC CACCAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCTGAGCAC CTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGGGTGCCT GAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCGCCGCTGG GTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCACGAGCGC CGCTGGGTGCCTGAGCACCTGCCCCACCAGAGCGCCACTGCTGGCCTCAC GAGCG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00544.hp2 others(44): Show HG00140.hp2 HG00408.hp2 HG00544.hp2 HG00673.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp2 HG01167.hp1 HG01361.hp1 HG01515.hp1 HG01517.hp1 HG01891.hp2 HG02132.hp2 HG02155.hp1 HG02165.hp2 HG02258.hp1 HG02293.hp1 HG02451.hp2 HG02559.hp1 HG02647.hp2 HG02896.hp2 HG02897.hp2 HG03017.hp1 HG03017.hp2 HG03139.hp2 HG03471.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG04115.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18612.hp2 NA18944.hp2 NA18952.hp2 NA18963.hp2 NA18971.hp1 NA18984.hp2 NA18995.hp2 NA19009.hp1 NA19030.hp1 NA19064.hp1 NA19065.hp1 NA19088.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0001c0010 a0001c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0003t0001 a0001c0004t0003 a0001c0010t0001 a0001c0015t0001	a0001c0001t0001g0085 a0001c0001t0001g0105 a0001c0001t0001g0106 others(44): Show a0001c0001t0001g0085 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0115 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0212 a0001c0001t0001g0216 a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0235 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0249 a0001c0001t0002g0087 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0173 a0001c0001t0002g0225 a0001c0001t0009g0247 a0001c0003t0001g0029 a0001c0003t0001g0051 a0001c0003t0001g0059 a0001c0003t0001g0061 a0001c0003t0001g0062 a0001c0003t0001g0095 a0001c0003t0001g0133 a0001c0003t0001g0134 a0001c0004t0003g0119 a0001c0010t0001g0084 a0001c0015t0001g0238	47	264	0.1780	-504	c.141 others(21): Show c.1416+10276_1417-10745del		MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	14/18						chr7	TogoVar
NPIPB11_chr16_29376310_29411711	29383169	TGCAGATG others(497): Show TGCAGATGCTCGGCAGGTGTCTTGATATTATCATCTGCTGAGGGTGGAGC TGAGGGTGGAAGGGGAGTGAGCTGACGCTCGGAAGGTGTCTTGAGATTAT CATCCGCTGAGGGTGGAAGCGGCCCCCGCAGATGCTCGGCAGTTGTCTTG ATATTATCATCTGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCTG ACGCTCAGAAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAAGCGGCC CCCGCAGATGCTCGGCAGGTGTCTTGATATTATCATCTGCTGAGGGTGGA GCTGAGGGTGGAAGGGGAGTGAGCTGACGCTCAGAAGGTGTCTTGAGATT ATCATCGGCTGAGGGTGGAAGCGGCCCCCGCAGACGCTCGGCAGGTGTCT TGATATTATCATCTGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGC TGACGCTCAGAAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAAGCGG CCCCC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02055.hp1 HG02486.hp1 HG02055.hp1 HG02486.hp1	a0042 a0042	a0042c0046 a0042c0046	a0042c0046t0015 a0042c0046t0015	a0042c0046t0015g0022 a0042c0046t0015g0022	2	428	0.0047	-504	c.125 others(9): Show c.1259_1762del	p.Arg others(13): Show p.Arg420_Leu587del	NPIPB11	ENSG00000254206.6	transcript	ENST00000698511.1	protein_coding	8/8	4509/6369	1259/3486	420/1161			chr16	TogoVar
NPIPB11_chr16_29376310_29411711	29383249	GGAAGGTG others(497): Show GGAAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAAGCGGCCCCCGCA GATGCTCGGCAGTTGTCTTGATATTATCATCTGCTGAGGGTGGAGCTGAG GGTGGAAGGGGAGTGAGCTGACGCTCAGAAGGTGTCTTGAGATTATCATC CGCTGAGGGTGGAAGCGGCCCCCGCAGATGCTCGGCAGGTGTCTTGATAT TATCATCTGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCTGACGC TCAGAAGGTGTCTTGAGATTATCATCGGCTGAGGGTGGAAGCGGCCCCCG CAGACGCTCGGCAGGTGTCTTGATATTATCATCTGCTGAGGGTGGAGCTG AGGGTGGAAGGGGAGTGAGCTGACGCTCAGAAGGTGTCTTGAGATTATCA TCCGCTGAGGGTGGAAGCGGCCCCCGCAGATGCTCGGCAGGTGTCTTGAT ATTATCATCTGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCTGAC GCTCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00323.hp1 HG00738.hp2 HG01070.hp2 others(9): Show HG00323.hp1 HG00738.hp2 HG01070.hp2 HG01074.hp2 HG01109.hp2 HG01261.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG02735.hp2 HG03239.hp1 NA20752.hp2	a0007 a0069 a0125 a0007 a0069 a0125	a0007c0007 a0007c0094 a0007c0118 others(2): Show a0007c0007 a0007c0094 a0007c0118 a0069c0095 a0125c0137	a0007c0007t0002 a0007c0094t0002 a0007c0118t0002 others(2): Show a0007c0007t0002 a0007c0094t0002 a0007c0118t0002 a0069c0095t0002 a0125c0137t0002	a0007c0007t0002g0012 a0007c0007t0002g0013 a0007c0007t0002g0287 others(7): Show a0007c0007t0002g0012 a0007c0007t0002g0013 a0007c0007t0002g0287 a0007c0007t0002g0288 a0007c0007t0002g0322 a0007c0007t0002g0334 a0007c0094t0002g0245 a0007c0118t0002g0300 a0069c0095t0002g0236 a0125c0137t0002g0269	12	428	0.0280	-504	c.117 others(9): Show c.1179_1682del	p.Glu others(13): Show p.Glu394_Ser561del	NPIPB11	ENSG00000254206.6	transcript	ENST00000698511.1	protein_coding	8/8	4429/6369	1179/3486	393/1161			chr16	TogoVar
NPIPB11_chr16_29376310_29411711	29383301	TGCTCGGC others(497): Show TGCTCGGCAGTTGTCTTGATATTATCATCTGCTGAGGGTGGAGCTGAGGG TGGAAGGGGAGTGAGCTGACGCTCAGAAGGTGTCTTGAGATTATCATCCG CTGAGGGTGGAAGCGGCCCCCGCAGATGCTCGGCAGGTGTCTTGATATTA TCATCTGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCTGACGCTC AGAAGGTGTCTTGAGATTATCATCGGCTGAGGGTGGAAGCGGCCCCCGCA GACGCTCGGCAGGTGTCTTGATATTATCATCTGCTGAGGGTGGAGCTGAG GGTGGAAGGGGAGTGAGCTGACGCTCAGAAGGTGTCTTGAGATTATCATC CGCTGAGGGTGGAAGCGGCCCCCGCAGATGCTCGGCAGGTGTCTTGATAT TATCATCTGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCTGACGC TCAGAAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAAGCGGCCCCCG CAGAC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00140.hp1 HG00408.hp1 HG00438.hp1 others(55): Show HG00140.hp1 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp2 HG01109.hp1 HG01167.hp1 HG01192.hp1 HG01346.hp1 HG01943.hp2 HG01975.hp2 HG02004.hp1 HG02056.hp2 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02155.hp2 HG02523.hp2 HG02922.hp1 NA18747.hp2 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18948.hp1 NA18949.hp1 NA18951.hp1 NA18952.hp1 NA18955.hp2 NA18957.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18974.hp2 NA18978.hp2 NA18979.hp1 NA18982.hp2 NA18983.hp2 NA18987.hp1 NA18989.hp2 NA18990.hp2 NA18994.hp2 NA18999.hp2 NA19004.hp2 NA19009.hp1 NA19011.hp2 NA19055.hp2 NA19057.hp1 NA19060.hp2 NA19063.hp1 NA19079.hp1 NA19082.hp1 NA19083.hp1 NA19085.hp1 NA19085.hp2 NA19091.hp1	a0003 a0044 a0045 others(11): Show a0003 a0044 a0045 a0053 a0112 a0114 a0115 a0116 a0117 a0118 a0121 a0122 a0123 a0133	a0003c0002 a0003c0130 a0003c0160 others(13): Show a0003c0002 a0003c0130 a0003c0160 a0044c0043 a0045c0044 a0053c0155 a0112c0121 a0114c0122 a0115c0123 a0116c0126 a0117c0127 a0118c0125 a0121c0124 a0122c0132 a0123c0133 a0133c0056	a0003c0002t0001 a0003c0002t0002 a0003c0002t0006 others(15): Show a0003c0002t0001 a0003c0002t0002 a0003c0002t0006 a0003c0130t0001 a0003c0160t0001 a0044c0043t0001 a0045c0044t0001 a0053c0155t0001 a0112c0121t0001 a0114c0122t0001 a0115c0123t0001 a0116c0126t0033 a0117c0127t0006 a0118c0125t0001 a0121c0124t0001 a0122c0132t0001 a0123c0133t0009 a0133c0056t0001	a0003c0002t0001g0008 a0003c0002t0001g0083 a0003c0002t0001g0095 others(54): Show a0003c0002t0001g0008 a0003c0002t0001g0083 a0003c0002t0001g0095 a0003c0002t0001g0096 a0003c0002t0001g0098 a0003c0002t0001g0099 a0003c0002t0001g0100 a0003c0002t0001g0102 a0003c0002t0001g0104 a0003c0002t0001g0106 a0003c0002t0001g0108 a0003c0002t0001g0109 a0003c0002t0001g0110 a0003c0002t0001g0111 a0003c0002t0001g0112 a0003c0002t0001g0114 a0003c0002t0001g0115 a0003c0002t0001g0117 a0003c0002t0001g0119 a0003c0002t0001g0121 a0003c0002t0001g0124 a0003c0002t0001g0126 a0003c0002t0001g0197 a0003c0002t0001g0198 a0003c0002t0001g0199 a0003c0002t0002g0326 a0003c0002t0002g0327 a0003c0002t0002g0328 a0003c0002t0006g0214 a0003c0002t0006g0215 a0003c0002t0006g0216 a0003c0002t0006g0217 a0003c0002t0006g0218 a0003c0002t0006g0219 a0003c0002t0006g0220 a0003c0002t0006g0222 a0003c0002t0006g0223 a0003c0002t0006g0224 a0003c0002t0006g0225 a0003c0002t0006g0226 a0003c0130t0001g0123 a0003c0160t0001g0204 a0044c0043t0001g0094 a0044c0043t0001g0200 a0045c0044t0001g0103 a0045c0044t0001g0125 a0053c0155t0001g0116 a0112c0121t0001g0107 a0114c0122t0001g0120 a0115c0123t0001g0122 a0116c0126t0033g0382 a0117c0127t0006g0221 a0118c0125t0001g0101 a0121c0124t0001g0097 a0122c0132t0001g0118 a0123c0133t0009g0392 a0133c0056t0001g0113	58	428	0.1355	-504	c.112 others(9): Show c.1127_1630del	p.Arg others(13): Show p.Arg376_Glu543del	NPIPB11	ENSG00000254206.6	transcript	ENST00000698511.1	protein_coding	8/8	4377/6369	1127/3486	376/1161			chr16	TogoVar
NPIPB4_chr16_21829582_21862756	21835108	GGCTGAGG others(497): Show GGCTGAGGGTGGAAGCGGCCCCCGCAGACGCTCGGCAGGTGTCTTGATAT TATCATCTGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCTGACGC TCGGAAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAAGCGGCCCCCG CAGACGCTCGGCAGGTGTCTTGATATTATCATCTGCTGAGGGTGGAGCTG AGGGTGGAAGGGGAGTGAGCTGACGCTCGGAAGGTGTCTTGAGATTATCA TCCGCTGAGGGTGGAAGCGGCCCCCGCAGACGCTCGGCAGGTGTCTTGAT ATTATCATCTGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCTGAC GCTCGGAAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAAGCGGCCCC CGCAGACGCTCGGCAGGTGTCTTGATATTATCATCTGCTGAGGGTGGAGC TGAGGGTGGAAGGGGAGTGAGCTGACGCTCGGAAGGTGTCTTGAGATTAT CATCC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01081.hp2 HG01256.hp1 HG01257.hp2 others(3): Show HG01081.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 NA19088.hp2 NA20300.hp1	a0020 a0021 a0036 others(1): Show a0020 a0021 a0036 a0083	a0020c0019 a0021c0025 a0036c0073 others(1): Show a0020c0019 a0021c0025 a0036c0073 a0083c0045	a0020c0019t0001 a0021c0025t0001 a0036c0073t0001 others(1): Show a0020c0019t0001 a0021c0025t0001 a0036c0073t0001 a0083c0045t0001	a0020c0019t0001g0069 a0020c0019t0001g0070 a0021c0025t0001g0039 others(3): Show a0020c0019t0001g0069 a0020c0019t0001g0070 a0021c0025t0001g0039 a0021c0025t0001g0040 a0036c0073t0001g0187 a0083c0045t0001g0152	6	204	0.0294	-504	c.277 others(9): Show c.2775_3278del	p.Asp others(14): Show p.Asp926_Ala1093del	NPIPB4	ENSG00000185864.19	transcript	ENST00000682606.1	protein_coding	8/8	3493/4020	2775/3669	925/1222			chr16	TogoVar
NPIPB4_chr16_21829582_21862756	21835517	TCGGCAGG others(497): Show TCGGCAGGTGTCTTGATATTATCATCTGCTGAGGGTGGAGCTGAGGGTGG AAGGGGAGTGAGCTGACGCTCGGAAGGTGTCTTGAGATTATCATCCGCTG AGGGTGGAAGCGGCCCCCGCAGACGCTCGGCAGGTGTCTTGATATTATCA TCTGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCTGACGCTCGGA AGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAAGCGGCCCCCGCAGAC GCTCGGCAGGTGTCTTGATATTATCATCTGCTGAGGGTGGAGCTGAGGGT GGAAGGGGAGTGAGCTGACGCTCGGAAGGTGTCTTGAGATTATCATCCGC TGAGGGTGGAAGCGGCCCCCGCAGACGCTCCCCGCAGACGCTCGGCAGGT GTCTTGATATTATCATCTGCTGAGGGTGGAGCTGAGTGTGGAAGGGGAGT GAGCTGACGCTCGGAAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAA GCGGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00621.hp1 HG00621.hp2 HG01975.hp2 others(5): Show HG00621.hp1 HG00621.hp2 HG01975.hp2 HG02074.hp2 NA18957.hp2 NA18983.hp2 NA19088.hp1 NA19091.hp2	a0009 a0023 a0046 a0009 a0023 a0046	a0009c0009 a0023c0024 a0046c0040 a0009c0009 a0023c0024 a0046c0040	a0009c0009t0001 a0023c0024t0001 a0046c0040t0001 a0009c0009t0001 a0023c0024t0001 a0046c0040t0001	a0009c0009t0001g0121 a0009c0009t0001g0135 a0009c0009t0001g0179 others(5): Show a0009c0009t0001g0121 a0009c0009t0001g0135 a0009c0009t0001g0179 a0009c0009t0001g0189 a0009c0009t0001g0198 a0023c0024t0001g0019 a0023c0024t0001g0042 a0046c0040t0001g0122	8	204	0.0392	-504	c.236 others(9): Show c.2366_2869del	p.Gly others(13): Show p.Gly789_Ala956del	NPIPB4	ENSG00000185864.19	transcript	ENST00000682606.1	protein_coding	8/8	3084/4020	2366/3669	789/1222			chr16	TogoVar
NPIPB4_chr16_21829582_21862756	21836536	GTTATCAT others(497): Show GTTATCATCTGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCTGAC GCTCGGAAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAAGCGGCCCC CGCAGACGCTCGGCAGGTGTCTTGATATTATCATCTGCTGAGGGTGGAGC TGAGGGTGGAAGGGGAGTGAGCTGACGCTCGGAAGGTGTCTTGAGATTAT CATCCGCTGAGGGTGGAAGCGGCCCCCGCAGACGCTCGGCAGGTGTCTTG ATATTATCATCTGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCTG ACGCTCGGAAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAAGCGGCC CCCGCAGACGCTCGGCAGGTGTCTTGATATTATCATCTGCTGAGGGTGGA GCTGAGGGTGGAAGGGGAGTGAGCTGACGCTCGGAAGGTGTCTTGAGATT ATCATCCGCTGAGGGTGGAAGCGGCCCCCGCAGACGCTCAGCAGGTGTCT TGATA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19068.hp2 NA19068.hp2	a0045 a0045	a0045c0031 a0045c0031	a0045c0031t0001 a0045c0031t0001	a0045c0031t0001g0113 a0045c0031t0001g0113	1	204	0.0049	-504	c.134 others(9): Show c.1347_1850del	p.Ile others(13): Show p.Ile450_Asn617del	NPIPB4	ENSG00000185864.19	transcript	ENST00000682606.1	protein_coding	8/8	2065/4020	1347/3669	449/1222			chr16	TogoVar
NPIPB5_chr16_22505891_22541535	22534729	GATCTCAA others(497): Show GATCTCAAGACACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGC TCCACCCTCAGCAGATGATAATATCAAGATACCTGCTGAGCGTCTGCGGA TTCCGCTTCCACCATCAGCCGATGATAATCTCAAGACACCTTCCGAGCGT CAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCAGCAGATGATAATAT CAAGACACCTGCCGAGCGTCTGCGGGGGCCGCTTCCACCCTGAGCGGATG ATAATCTCAAGACACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTCA GCTCCACCCTCAGCAGATGATAATATCAAGACACCTGCCGAGCGTCTGCG GGGGCCGCTTCCACCCTCAGCAGATGATAATCTCAAGACACCTTCCGAGC GTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCAGCAGATGATAAT ATCAAGACACCTGCCGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCGGA TGATA	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00642.hp2 HG00642.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0001 a0008c0013t0001	a0008c0013t0001g0033 a0008c0013t0001g0033	1	47	0.0213	-504	c.182 others(9): Show c.1825_2328del	p.Tyr others(13): Show p.Tyr609_Arg776del	NPIPB5	ENSG00000243716.12	transcript	ENST00000424340.7	protein_coding	7/7	4736/6463	1825/3402	609/1133		INFO_REALIGN_3_PRIME	chr16	TogoVar
OR6B3_chr2_240039571_240058521	240042075	CGAAGGGC others(497): Show CGAAGGGCCGTGGGTGAAGAGGCATGGACGAAGGGCCGTGGGTGAAGAGG CATGGAGGAAGGGCCGTGGGTGAAGAGGCATGGACGAAGGGCCGTGGGTG AAGAGGCATGGAGGAAGGGCCGTGGGTGAAGAGGCATGGACGAAGGGCCG TGGGTGAAGAGGCATGGACGAAGGGCCGTGGGTGAAGAGGCATGGACGAA GGGCCGTGGGTGAAGAGGCATGGAGGAAGGGCCGTGGGTGAAGAGGCATG GAGGAAGGGCCGTGGGTGAAGAGGCATGGACGAAGGGCCGTGGGTGAAGA GGCATGGACGAAGGGCCGTGGGTGAAGAGGCATGGACGAAGGGCCGTGGG TGAAGAGGCATGGACGAAGGGCCGTGGGTGAAGAGGCATGGAGGAAGGGC CGTGGGTGAAGAGGCATGGAGGAAGGGCCGTGGGTGAAGAGGCATGGAGG AAGGGCCGTGGGTGAAGAGGCATGGAGGAAGGGCCGTGGGTGAAGAGGCA TGGAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00738.hp1 others(23): Show HG00408.hp1 HG00438.hp2 HG00738.hp1 HG01069.hp2 HG01099.hp1 HG01243.hp2 HG01975.hp1 HG01993.hp1 HG02040.hp1 HG02129.hp2 HG02273.hp2 HG02293.hp1 HG02559.hp2 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG03195.hp1 HG03209.hp2 HG03654.hp1 HG04199.hp1 HG04204.hp2 NA18970.hp2 NA19043.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0003c0005 a0006c0010 a0001c0001 a0003c0005 a0006c0010	a0001c0001t0001 a0003c0005t0001 a0003c0005t0004 others(1): Show a0001c0001t0001 a0003c0005t0001 a0003c0005t0004 a0006c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0020 a0001c0001t0001g0036 others(10): Show a0001c0001t0001g0001 a0001c0001t0001g0020 a0001c0001t0001g0036 a0001c0001t0001g0078 a0003c0005t0001g0103 a0003c0005t0001g0104 a0003c0005t0004g0006 a0003c0005t0004g0037 a0003c0005t0004g0039 a0003c0005t0004g0076 a0003c0005t0004g0116 a0003c0005t0004g0124 a0006c0010t0001g0024	26	444	0.0586	-504	c.24 others(11): Show c.2498_*3001del		OR6B3	ENSG00000178586.7	transcript	ENST00000641019.2	protein_coding					2495		chr2	TogoVar

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Search Results (Total: 10000 hits)