Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
GALNT9_chr12_132191372_132334589	132233502	CCCTAGTG others(568): Show CCCTAGTGCCACACACTCGATGGGGTGACAGAGGAGACAGTGTGGAGCCC CTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCT GGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAG TGCCACACACTCGATGGCGTGAGAGAGGAGACAGCGTGGAGTCCCTAGTG CCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTAGTGCC ACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCAC ACACTCGATGGGGCGACAGAGGAGACAGCATGGAGTCCCTAGTGCCACAC ACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACAC TCGATGGGGCGACAGAGGAGACAGTGTGGAGCCCCTAGTGCCACACACTC GATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTGGTGCCACACACTCGA TGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATG GCGTGAGAGAGGAGACAGCGTGGAGT	C C	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0177 a0001c0009t0002g0177	1	183	0.0055	-575	c.107 others(21): Show c.1077+13833_1077+14407del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
MAD1L1_chr7_1810795_2237945	2058452	AGGCTGGA others(568): Show AGGCTGGAGAGGGAGTGTGGCCAGAGGAGAGAAGCAGGGCTGGAGAGGGA GTGTGGCCAGAGGAGAGGAGAGGCGCAGGGCTGGAGAGGGAGTGTGGCCA GAGGAGAGAAGCAGGGCTGGAGAGGGAGTGTGGCCAGAGGAGAGGAGAGG CGCGGGGCTAGAGTGGGAGTGTGGCCAGGGGAGAGGCGCAGGGCTGGAGA GGGAGTGTGGCCAGAGGAGAGGAGAGGCTTGAGGCTGGAGAGGGAGTGTG GCCAGGGGAGAGGAGAGGCGCAGGGCTGGAGAGGGAGTGTGGCTAGAGGA GAGAAGCAGGGCTGGAGAGGGAGTGTGGCCAGAGAAGAGGAGAGGCGCGG GGCTGGAGTGGGAGTGTGGCCAGAGGAGAGAAGCAGGGCTGGAGAGGGAG TGTGGCCAGAGGAGAGGAGAGGCGCGGGGCTAGAGTGGGAGTGTGGCCAG GGGAGAGGCGCAGGGCTGGAGAGGGAGTGTGGCCAGAGGAGAGGAGAGGC GCGGGGCTAGAGTGGGAGTGTGGCCAGGGGAGAGGCGCAGGGCTGGAGAG GGAGTGTGGCCAGAGGAGAGAAGCAG	A A	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	264	0.0038	-575	c.121 others(21): Show c.1218+10167_1218+10741del	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	12/18			chr7	TogoVar
NKD2_chr5_1003802_1043943	1026001	TCAGCCCA others(568): Show TCAGCCCATTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCCCAGCCCAT TGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCATTGTCCCTGC TCTTCCCACCCTCTGTGGGTGCCCCAGCCCATTGTCCCTGCTCTTCCCAC CCGCTGTGGGCGTCCCAGCCCTTTGTCCCTGCTCTTCCCACCCTCTGTGG GCGTCTCAGCCCATTGTCCCTGCTCTTCCCACCTGCTAGTGGGCGTCTCA GCCCATTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCTTTGT CCCTGCTCTTCCCACCCGCTGTGGGCGTCTCGGTCCATTGTCCCTGCTCT TCCCACCCTCTGTGGGCGTCTCGGCCCATTGTCCCTGCTCTTCCCACCCG CTGTGGGCGTCCCAGCCCTTTTTCCCTGCTCTTCCCACCCTCTGTGGGCG TCTCAGCCCATTGTCCCTGCTCTTCCCATCTGCTGTGGGCGTCTCAGCCC ATTGTCCCTGCTCTTCCCACCCGCTGTGGGTGTCCCAGCCCATTGTCCCT GCTCTTCCCACCCTCTGTGGGTGTCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00438.hp1 others(87): Show HG00099.hp2 HG00323.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01070.hp1 HG01099.hp1 HG01109.hp1 HG01175.hp2 HG01243.hp1 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG01361.hp2 HG01496.hp2 HG01517.hp2 HG01928.hp2 HG01934.hp1 HG01993.hp1 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp2 HG02165.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02615.hp1 HG02615.hp2 HG02683.hp1 HG02735.hp2 HG02886.hp1 HG02897.hp1 HG02922.hp2 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03540.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp2 HG03834.hp2 HG03942.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18948.hp1 NA18952.hp1 NA18960.hp2 NA18962.hp2 NA18968.hp1 NA18973.hp2 NA18980.hp2 NA18984.hp2 NA18992.hp1 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19011.hp1 NA19057.hp1 NA19064.hp1 NA19065.hp2 NA19074.hp1 NA19079.hp2 NA19088.hp2 NA19090.hp2 NA19240.hp2 NA20300.hp1 NA20300.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0001c0002 a0001c0008 others(4): Show a0001c0001 a0001c0002 a0001c0008 a0001c0010 a0002c0003 a0004c0007 a0006c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0002t0001 a0001c0002t0003 a0001c0008t0023 a0001c0008t0024 a0001c0010t0001 a0002c0003t0001 a0004c0007t0006 a0006c0015t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(76): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0070 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0137 a0001c0001t0001g0144 a0001c0001t0001g0162 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0209 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0218 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0237 a0001c0001t0001g0241 a0001c0001t0002g0212 a0001c0001t0003g0108 a0001c0001t0003g0124 a0001c0001t0005g0003 a0001c0001t0005g0080 a0001c0001t0005g0091 a0001c0001t0006g0266 a0001c0001t0006g0267 a0001c0001t0006g0268 a0001c0001t0006g0269 a0001c0001t0006g0270 a0001c0001t0006g0271 a0001c0001t0008g0086 a0001c0001t0008g0094 a0001c0001t0009g0083 a0001c0001t0009g0084 a0001c0001t0009g0085 a0001c0001t0009g0096 a0001c0001t0012g0120 a0001c0001t0019g0193 a0001c0001t0020g0202 a0001c0001t0021g0010 a0001c0001t0022g0199 a0001c0002t0001g0185 a0001c0002t0001g0194 a0001c0002t0003g0006 a0001c0002t0003g0054 a0001c0002t0003g0055 a0001c0002t0003g0056 a0001c0002t0003g0110 a0001c0002t0003g0262 a0001c0008t0023g0021 a0001c0008t0024g0021 a0001c0010t0001g0210 a0002c0003t0001g0034 a0002c0003t0001g0041 a0002c0003t0001g0208 a0002c0003t0001g0211 a0004c0007t0006g0078 a0004c0007t0006g0079 a0006c0015t0001g0231	90	319	0.2821	-575	c.142 others(17): Show c.142-6122_142-5548del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
PRDM15_chr21_41793225_41884344	41844607	TCCCCCTC others(568): Show TCCCCCTCACAGGGACACACAGCCCCTCCCCCCTCACAGAGACACACATA CACAGTCCCTCCCCCCTCACAGGGACACACACAGCCCCTCCTCCATCACA GGGACACACACACACACACACACACACACACACACAGAGTCCCTTCCCCC TCACAGGGACACACACAGTCCCTCCCCCCTCACAGGGACACACACAGTCC CTCCCCCCTCACAGGGACACACACAGCCCCTCCCCCCTCACAGGGACACA CAGCCCCTCCCCCTCACAAGGACACACACAGCCCCTCCCCCTCACAGGGA CACACACAGCCTCTCCCCCCACACAGGGACACACAGCCCCTCCCCCCTCA CAGGGACACACACAGCCCCTCCCCCCTCACAGGGACACACAGCCCCTCCC CCCTCACAGGGACACACACAGCCCCTCCCCCCTCGCAGGGACACACAGCC CCTCCCCCTCACAGGGACACACAGCCCCTCCCCCCTCACAGGGACACACA CACACAGCCCCTCCCCCCTCACAGGGACACACACACACAGCCCCTCCCCC CCTCACAGGGACACACACAGCCCCTC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00099.hp2 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0160 a0001c0001t0017g0161 a0001c0001t0017g0160 a0001c0001t0017g0161	2	406	0.0049	-575	c.640 others(17): Show c.640+1908_640+2482del	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	6/23			chr21	TogoVar
RASA3_chr13_113972783_114137623	114006700	TCCCCCCT others(568): Show TCCCCCCTCCTGCCCTGCCGGACGCCACCTTACCCTTCTCCCCACTCCTG CCCTGCTGGATGCCACCTTACCCTTCTCCCCTCCTGCCCTGCTGGACACC ACCTTACCCTTCTCCCCTCCTGCCCTGCCGGACGCCACCTTACCCTTCTC CCCACTCCTGCCCTGCCGGATGCCACCTTACCCTTCTCCCCTCCTGCCCT GCTGGACACCACCTTACCCTTCTCCCCTCCTGCCCTGCCGGACGCCACCT TACCCTTCTCCCCACTCCTGCCCTGCCGGATGCCACCTTACCCTTCTCCC CTCCTGCCCTGCTGGACACCACCTTACCCTTCTCCCCACTCCTGCCCTGC CGGACACCACCTTACCCTTCTCCCCACTCCTGCCCTGCCGGATGCCACCT TACCCTTCTCCCCTCCTGCCCTGCTGGACACCACCTTACCCTTCTCCCCA CTCCTGCCCTGCCGGACACCACCTTACCCTTCTCCCCTCCTGCCCTGCCG GACGCCACCTTACCCTTCTCCCCTCCTGCCCTGCCGGACGCCACCTTACC CTTCTCCCCCCTCCTGCCCTGCCGCC	T T	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0042 a0001c0011t0001g0042	1	67	0.0149	-575	c.174 others(17): Show c.1742+258_1742+832del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	18/23			chr13	TogoVar
DGKB_chr7_14140049_14907751	14211748	ATTTACTC others(567): Show ATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACT CTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTT TTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCGTGTTTTGTGATT TTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCT CGTGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTT TGTGATATTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGAT ATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTC TCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCGTGTTT TGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATT TTACTCTCGTGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTC ATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTG TGATTTTACTCTCATGTTTTGTGAT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0011 a0002c0005t0011	a0002c0005t0011g0062 a0002c0005t0011g0062	1	148	0.0068	-574	c.212 others(21): Show c.2123-34171_2123-33598del	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14211801	ATGTTTTG others(567): Show ATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTG TGATTTTACTCTCATGTTTTGTGATTTTACTCTCGTGTTTTGTGATTTTA CTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCGT GTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGT GATATTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATATT TACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCA TGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCGTGTTTTGT GATTTTACTCTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTA CTCTCGTGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATG TTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGA TTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACT CTCATGTTTTGTGATTTTACTCTCG	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0077 a0001c0008t0003g0077	1	148	0.0068	-574	c.212 others(21): Show c.2123-34224_2123-33651del	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
JPH2_chr20_44101590_44192188	44161632	CTCTGAAA others(567): Show CTCTGAAAGCAAAGATATGTGTGTGATACTGTGATTCTACAAAGTTGTGC TCACGTGTGAGGTCACCTGAGTTGTATGACAAGCTGATACACAGCTGCCA AAATAACTTCATCCTTCACCCCCATCCTGACATGTAGTTCTCCCCAGGGC TCATCCAAAAACCTTCTCCTATTCTCTCTAGATGACTGCACATCTAGTGT TTTTAAACTGCCATTTATGTCCTGCTGACCTCCCCAAATATATCCCCAAC CCCTCCCTCTCCCTTCGGTAGCTCCAGATGTCACCTTGGAAATTTGTGTT CCCTCAGATGGTACACAGCCACCTCCAGCTCACATCTGCCCTCACTCACC CCACACACACACCTGGGCCACAGTCCTGGTCTTTCTTTCCCACAGCAGTG CTGCTGAAAGGCAGTTCTCTGCCTTCGTCTTTGTACCTCCACCATGTAGA ACGGTACCTGATACATAACGTTCACTGCACCGAAGGCAGAAATTCTGAGG CTTCTTTGTTTTAAACACAAGCTGATACATTCTCCCTAGTTAACAAAAAC CAAAAGGTCTTCCTGCTAATAAATG	C C	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA19066.hp2 NA18962.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0049 a0001c0006t0105 a0001c0001t0049 a0001c0006t0105	a0001c0001t0049g0076 a0001c0006t0105g0313 a0001c0001t0049g0076 a0001c0006t0105g0313	2	338	0.0059	-574	c.380 others(17): Show c.380-1799_380-1226del	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	1/5			chr20	TogoVar
NWD2_chr4_37239743_37454463	37330789	GTACAATA others(567): Show GTACAATACCACCAGAATCATCACCCTACTTGAGTATTTCTGTACAATAC CACCAGAATCATCACCCTACTTGAGTATTTCTATACAATACCACCAGAAT CATCACCCTACTTGAGTATTTCTATACAATACCACCAGAATCATCACCCT ACTTGAGTATTTCTGTACAATACCACCAGAATCATCACCCTACTTGAGTA TTTCTATACAATACCACCAGAATCATCACCCTACTTGAGTATTTCTGTAC AATACCACCAGAATCATCACCCTACTTGAGTATTTCTGTACAATACCACC AGAATCATCACCCTACTTGAGTATTTCTATACAATACCACCAGAATCATC ACCCTACTTGAGTATTTCTGTACAATACCACCAGAATCATCACCCTACTT GAGTATTTCTGTACAATACCACCAGAATCATCACCCTACTTGAGTATTTC TATACAATACCACCGGAATCATCACCCTACTTGAGTATTTCTATACAATA CCACCAGAATCATCACCCTACTTGAGTATTTCTGTACAATACCACCAGAA TCATCACCCTACTTGAGTATTTCTA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00597.hp2 HG00609.hp2 others(43): Show HG00408.hp2 HG00597.hp2 HG00609.hp2 HG00642.hp1 HG00738.hp2 HG01069.hp2 HG01071.hp2 HG01256.hp2 HG01258.hp2 HG01517.hp1 HG01884.hp2 HG02004.hp1 HG02056.hp2 HG02071.hp2 HG02135.hp1 HG02523.hp1 HG02602.hp1 HG02698.hp2 HG02735.hp2 HG03669.hp1 HG03688.hp2 HG03710.hp2 HG03834.hp1 HG03942.hp1 NA18948.hp2 NA18954.hp1 NA18956.hp1 NA18959.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18966.hp2 NA18970.hp2 NA18971.hp1 NA18972.hp2 NA18973.hp2 NA18980.hp2 NA18989.hp1 NA19003.hp2 NA19004.hp1 NA19076.hp2 NA19079.hp1 NA19087.hp2 NA19090.hp2 NA20905.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0001c0002 a0001c0004 others(6): Show a0001c0001 a0001c0002 a0001c0004 a0001c0014 a0001c0020 a0001c0029 a0002c0003 a0003c0016 a0007c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0002t0004 a0001c0002t0008 a0001c0004t0001 a0001c0014t0011 a0001c0020t0007 a0001c0029t0002 a0002c0003t0003 a0002c0003t0010 a0003c0016t0001 a0007c0024t0002	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 others(43): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0067 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0164 a0001c0001t0001g0207 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0250 a0001c0001t0002g0029 a0001c0001t0002g0037 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0110 a0001c0001t0002g0125 a0001c0001t0005g0278 a0001c0001t0005g0279 a0001c0001t0007g0255 a0001c0001t0007g0265 a0001c0001t0007g0289 a0001c0002t0004g0070 a0001c0002t0004g0072 a0001c0002t0004g0112 a0001c0002t0004g0136 a0001c0002t0004g0224 a0001c0002t0004g0231 a0001c0002t0004g0244 a0001c0002t0008g0251 a0001c0002t0008g0253 a0001c0004t0001g0044 a0001c0004t0001g0222 a0001c0014t0011g0154 a0001c0020t0007g0266 a0001c0029t0002g0180 a0002c0003t0003g0093 a0002c0003t0010g0267 a0002c0003t0010g0291 a0003c0016t0001g0111 a0007c0024t0002g0078	46	296	0.1554	-574	c.240 others(17): Show c.240+4847_240+5420del	NWD2	ENSG00000174145.8	transcript	ENST00000309447.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
PARVB_chr22_44019302_44177939	44094540	GGTGCGGT others(567): Show GGTGCGGTGATATGATCACAGCTCATGGCAGCCTTTACCGTCCAGGTTCA AGTGATCCTCCTGCCTTAGCCTCCTGAGTAGCTGGGACTACAGGCATGTG CCACCCCGCCCACCTAACTTTTTAATTTATTTGTAGAGATGGGGTCTTGC CATGTTGCTCAGACTGGTCTCCAACTCCTGGGCTCAAGCAGTTCTCCTGC CTCGGTTTCCCAAAGTGCAGGGACTACAGATATGAGCCACTGCGCCTGGC CCCAACACCCTTACTGTGGCTTTCTCTGAAGGAATGGGCAAGGCTGGGTG AACAGGCCTAGGCCTGGCTTGTTGGAATCGTTTCACTGGGCTTTGCGGTG CAGGAGCTGTCCTGAGTCTTCTCAGTAAGAAGACTCTTCTTCTTCCACAC CACGTGGCGTGGCGTGGTATGGTGTGGCGTGGCGTGGCATGTCCCCAGGG CCAGGGGAGATTAGGGTGAGGATATTGGCTGGGAGTGTAGGAGCCCCGTG AGAGCCCAAGGAAAGAGGTGGCTGGGGACTCTGGGCTCTGCGGCTCAGGC TCTGAGTGGTTTTCATATGAAAGGT	G G	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG06807.hp1 HG02809.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0014 a0001c0001t0005 a0001c0001t0014	a0001c0001t0005g0204 a0001c0001t0014g0196 a0001c0001t0005g0204 a0001c0001t0014g0196	2	332	0.0060	-574	c.202 others(16): Show c.202+528_202+1101del	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PCMT1_chr6_149744741_149816419	149762543	TCTATGAT others(567): Show TCTATGATATATATATATCTATGATATATATATCTATGATATATATATCT ATGATATATATATCTATGATATATATATATCTATGATATATATATATCTA TGATATATATATGATATATATATCTATGATATATATATATCTATGATATA TATATATCTATGATATATATATCTATGATATATATATCTATGATATATAT ATATCTATGATATATATACCTATGATATATATATACCTATGATATATATA CCTATGATATATATATCTATGATAATCTATGATATATATGATATATATAT CTATGATATATATCTATGATATATATATCTATGATATATATGTTATATAT ATCTATGATATATATCTATGATATATATATCTATGATATATATGATATAT ATATCTATGATATGTATATCTATGATATATATGATATATATATCTATGAT ATATATGATATATATATCTATGATATATATGATATATCTATGATATCTAT GATATGTATATCTATGATATATATATCTATGATATGTATATCTATGATAT ATATGATATATATATCTATGATATG	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	334	0.0030	-574	c.56- others(15): Show c.56-8618_56-8045del	PCMT1	ENSG00000120265.21	transcript	ENST00000464889.7	protein_coding	1/7			chr6	TogoVar
PTPRD_chr9_8309246_10618002	9933698	GAATTGAA others(567): Show GAATTGAACTCAGCTCTGCACCAAGCGGACCTAATAGACATCTACAGAAC TCTCCACCCCAAATCAACAGAATATACATTTTTTTCAGCACCACACCACA CCTATTCCAAAATTGACCACATACTTGGAAGTAAAGGTCTCCTCAGAAAA TGTAAAAGAACAGAAATTATAACAAACTATCTCTCAGACCACAGTGCAAT CAAACTAGAACTCAGGATTAAGAATCTCACTCAAAGCTGCTCAACTACAT GGAAACTGAACAACCTGCTCCTGAATGACTACTGGGTACATAATGAAATG AAGGCAGAAATAAAGATGTTCTTTGAAACCAACGAGAACAAAGACACAAC ATACCAGAATCTCTGGGACACATTCAAAGCAGTGTGTAGAGGGAAATTTA TAGCACTAAACGCCCACAAGAGAAAGCAGGTAAGATCCAAAATTGACACC CTAACATCACAATTAAAAGAACTAGAAAAGCAAGAGCAAACACATTCAAA AGCTAGCAGAAGGCAAGAAATAAGTAAGATCAGAGCAGAACTGAAGGAAA TAGAGACACAAAAAACCCTTCAAAA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0019 a0001c0005t0001g0019	1	34	0.0294	-574	c.-36 others(19): Show c.-368+4235_-368+4808del	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	5/45			chr9	TogoVar
SGTA_chr19_2749715_2788273	2773408	TCCGAGGG others(567): Show TCCGAGGGCAGAGGTGGGTGACGCGGCCACACGGCAGGGACACCGAGGGC AGAGATGGGTGACGCGGCCACACGGCAGGGACACCGAGGGCAGAGGTGGG TGACGCGGCCACAGGGCAGGGACACCGAGGGCAGAGGTGGGTGACGCGGC CACACGGCAGGGACACCGAGGGCAGAGGTGGGTGACACGGCCACACGGCA GGGACTCCGAGGGCAGAGATGGGTGACGCGGCCACAGGGCAGGGACACCG AGGGCAGAGATGGGTGACGCGGCCACACGGCAGGGACACCGAGGGCAGAG ATGGGTGACGCGGCCACACGGCGGGGACACCGAGGGCAGAGGTGGGTGAC GCGGCCACACGGCGGGGACACCGAGGGCAGAGGTGGGTGACGCGGCCACA CGGCAGGGACACCGAGGGCAGAGGTGGGTGACGCGGCCACACGGCAGGGA CACCGAGGGCAGAGGTGGGTGACACGGCCACACGGCAGGGACTCCGAGGG CAGAGATGGGTGACGCGGCCACACGGCAGGGACTCCGAGGGCAGAGATGG GTGACGCGGCCACAGGGCAGGGACA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02257.hp1 HG02970.hp2 HG01243.hp1 HG02257.hp1 HG02970.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0014 a0001c0003t0003g0051 a0001c0003t0003g0014 a0001c0003t0003g0051	3	396	0.0076	-574	c.-23 others(17): Show c.-23-4891_-23-4318del	SGTA	ENSG00000104969.11	transcript	ENST00000221566.7	protein_coding	1/11			chr19	TogoVar
SHOX_chrX_625791_656584	647604	GGCCTCCC others(567): Show GGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCAGGCCTGGGTAA CTTTCTGGTATTTTTAGTAGAGACAGGGTTTCAGCCTCCCGAGTAGCTGG GATTACAGGCACCTGCCACCAGGCCTGGGTAACTTTCTGGTATTTTTAGT AGAGACAGGGTTTCGGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCA CCAGGCCTGGGTAACTTTCTGGTATTTTTAGTACAGACAGGGTTTCAGCC TCCCGAGTAGCTGGGATTACAGGCACCTGCCACCAGGCCTGGGTAACTTT CTGGTATTTTTAGTAGAGACAGGGTTTCGGCCTCCCGAGTAGCTGGGATT ACAGGCACCTGCCACCAGGCCTGGGTAACTTTCTGGTATTTTTAGTAGAG ACAGGGTTTCGGCCTCCCGAGTAGCTGGGATTACAGGCACCTGCCACCAG GCCTGGGTAACTTTCTGGTATTTTTAGTAGAGACAGGGTTTCGGCCTCCT GAGTAGCTGGGATTACAGGCACCTGCCACCAGGCCTGGGTAACTTTCTGG TATTTTTAGTAGAGACAGGGTTTCA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01891.hp1 HG02109.hp1 HG02970.hp2 others(1): Show HG01891.hp1 HG02109.hp1 HG02970.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0090 a0001c0001t0096 a0001c0003t0190 others(1): Show a0001c0001t0090 a0001c0001t0096 a0001c0003t0190 a0001c0003t0191	a0001c0001t0090g0084 a0001c0001t0096g0121 a0001c0003t0190g0123 others(1): Show a0001c0001t0090g0084 a0001c0001t0096g0121 a0001c0003t0190g0123 a0001c0003t0191g0013	4	220	0.0182	-574	c.30 others(11): Show c.3037_*3610del	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding	5/5	3037	INFO_REALIGN_3_PRIME	chrX	TogoVar
TWIST2_chr2_238843085_238915534	238880515	AGTGTGTT others(567): Show AGTGTGTTAGTATTGGTATTAGTGTTAGTGTTAGTATTTATTAGTATTAG TATTACTGTTAGTATTAGTATTAGTGTTATGTTAGTATTAGTGTTAGTAT TTATTAGTATTAGTGTTACTGTTAGTCTTAGTGTTAGTGTCAGTATTAGT ATTAGTGTTAGTGTCAGTATTAGTGTATTTATTAGTGTTAGCATTAGTAT TAATGTTAGTATCTATTAGTATTAGTGTTAGTGTTGGTGTTAATATTAGC ATTAGTGTCAGTGTTAGTATTAGTGTTAGTGTTAGTATTTATTAGTATTA GTGTTAGTATTTATTGGTATTAGTGTTAGTACTAGTATTTATTAGTGTTA GTGTTATTGTTAGTGTTAGTGTTGGTATTTATTATTATTAGTGTTAGTGT CAGTATTAGTGTTAGTATTTATTTGTGTTAGCATTAGTATTAATGTTAGT GTTAGTATTTATTAGTGTTAGTGTTGGTAATATTTATTAGCATTAGTGTT AGTGTTAGTATTTATTAGTATTAGTTACTATTTATTAGTGTCAGTGTTAG TGTTAGTGTCAGCATTAGTATTAGT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0293 a0001c0001t0002g0293	1	338	0.0030	-574	c.36 others(19): Show c.36-29322_*36-28749del	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
ZNF516_chr18_76352682_76500242	76392812	AAGGCAGG others(567): Show AAGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGG GAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAG GCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAG GTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGG TCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGG GGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAG GCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAG GTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGG TCAGGTGGGGGGAGGGCAGGTGGTC	A A	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0199 a0001c0001t0018g0199	1	346	0.0029	-574	c.181 others(21): Show c.1811-13083_1811-12510del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
CACNA1H_chr16_1148106_1226768	1190979	TTTCGGTG others(566): Show TTTCGGTGACCCAGCAGGCTGCCCTGGCTGTGTGGCCTCAGGCACACTCG GGGTCTCTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTC GGGGTCTCTCTGACTCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACA CTCGGGGTCTCTCTGACTCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGC ACACTCGGGGTCTCTCTTACTCAGCAGGCTGGCCTGGCTGTGTGGCCTCA GGCACACTCGGGGTCTCTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTC AGGCACACTCGGGGTCTCTCTTACTCAGCAGGCTGGCCTGGCTGTGTGGC CTCCGGCACACTCGGGGTCTCTGACCCAGCAGGCTGGCCTGGCTGTGTGG CCTCAGGCACACTCGGGGTTTCGGTGACCCAGCAGGCTGGCCTGGCTGTG TGGCCTCAGGCACACTCAGGGTTTTGGTGACCCAGCAGGCTGGCCTGGCT GTGTGGCCTCAGGCACACTTGGGGTCTCTGACCCAGTAGGCTGGCCTGGC TGTGTGGCCTCAGGCACACTCGGG	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02572.hp1 HG03579.hp2 HG02055.hp1 HG02572.hp1 HG03579.hp2	a0001 a0003 a0030 a0001 a0003 a0030	a0001c0001 a0003c0028 a0030c0067 a0001c0001 a0003c0028 a0030c0067	a0001c0001t0001 a0003c0028t0004 a0030c0067t0020 a0001c0001t0001 a0003c0028t0004 a0030c0067t0020	a0001c0001t0001g0322 a0003c0028t0004g0325 a0030c0067t0020g0323 a0001c0001t0001g0322 a0003c0028t0004g0325 a0030c0067t0020g0323	3	338	0.0089	-573	c.300 others(17): Show c.300-3992_300-3420del	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34			chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1191298	CTTACTCA others(566): Show CTTACTCAGCAGGCTGGCCTGGCTGTGTGGCCTCCGGCACACTCGGGGTC TCTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCGGGGT TTCGGTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCAG GGTTTTGGTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACT TGGGGTCTCTGACCCAGTAGGCTGGCCTGGCTGTGTGGCCTCAGGCACAC TCGGGGTCTCTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACA CTCGGGGTTTCGGTGACCCAGCAGGCTGGCCTGGTTGTGTGGCCTCAGGC ACACTCAGGGTTTTGGTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTCA GGCACACTCGGGGTCTCTGACCCAGTAGGCTGGCCTGGCTGTGTGGCCTC AGGCACACTCGGGGTCTCTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCT CAGGCACACTCGGGGTTTCGGTGACCCAGCAGGCTGGCCTGGTTGTGTGG CCTCAGGCACACTCAGGGTTTTGG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0001 a0001c0031t0001	a0001c0031t0001g0217 a0001c0031t0001g0217	1	338	0.0030	-573	c.300 others(17): Show c.300-3672_300-3100del	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
EDIL3_chr5_83935554_84389880	84113206	GGTAGTCT others(566): Show GGTAGTCTGCATTTCCTGGCTGTAAGATCTGTGTTTATGCATCCTTGGTA TTGTGCTTGCTTTTGTCAGGTACGACAATAATCCTAAATTAATGAGTCCA TTCAACATTGGCTACCAGAGAATTTCAGGCACCTTTTATACAGTCATTTA AAATAATTACACTGCCTGAATTGTCTGAGTAGACTGGAAGTGCCTTCTGA CCTGACACCCTGCTGTTCAGACTAATACTGAGCAAGTGAGTCACCTGGCA GGTTGAGCAGGAGCAGCTGGGCTAGCTGGGGGCCAAACTTCAAGTGCCTC CCCATAGCAACTTTTCTGCTTTGGCCAAGAGGGATGTGAATAAAATAGCT TCAAAGTGGAGTCCTTCTCACTCTGCAAATTCATTCTCTGGAGTATGGCA AAGAATGGCTTCTGCATTTTATTGATCTTGCAGCTGACAAGTAAGCAGTG CCTCAAGATGTCTCGCATCTTGTTCCTGAGTGTGCTGATTAAGCCTTTCA AATAAGTGAGATGCACAGCTGAATCCGCAACAGGAATGTACTGCTTTCAT TTGCTCTATCTCAATATCCAGACA	G G	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0017 a0001c0001t0004g0017	1	158	0.0063	-573	c.470 others(17): Show c.470-6949_470-6377del	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	5/10			chr5	TogoVar
EIF3B_chr7_2349827_2385745	2377465	GATGGAGG others(566): Show GATGGAGGAAGGAGCAGGCACGAGCGCTCCTGGGATGCTGTGTTGTGTGA ATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCACGAGCGCTCCTGGGAT GCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCG AGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGG AAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCT GGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTT CTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCC TGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCA GGCGCGAGCGCTCCTGGGAAGCCGTGTTGTGTGAATGACCCTGGGTGTCG AGGAAGGAGAAGGCGCGAGCACTGCTGGGATGCCGTGTTCTGTGAATGAC CCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGATGCTGT GTTCTGTGAATGACCCTGGGTGTC	G G	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01175.hp2 HG01981.hp2 others(4): Show HG01099.hp2 HG01175.hp2 HG01981.hp2 HG02109.hp1 HG03942.hp1 NA19043.hp2 NA20805.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0007c0025	a0001c0001t0005 a0001c0003t0001 a0002c0002t0001 others(1): Show a0001c0001t0005 a0001c0003t0001 a0002c0002t0001 a0007c0025t0001	a0001c0001t0005g0008 a0001c0001t0005g0180 a0001c0003t0001g0223 others(3): Show a0001c0001t0005g0008 a0001c0001t0005g0180 a0001c0003t0001g0223 a0001c0003t0001g0229 a0002c0002t0001g0349 a0007c0025t0001g0345	7	384	0.0182	-573	c.215 others(17): Show c.2154+434_2155-608del	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
FER_chr5_108742897_109201841	108969615	TTGAACAC others(566): Show TTGAACACTGTGAATGTATTACCTATTCAAAAGGTAAGATTAAGAAATAT TGAAAACATGGCACCTGTCCTCAAGCAAATATAAATTTTTAGGATGATGC TTTATTGAGAAATTATTGATAAGAAGACAAAATATTCATGCTATATATTG TTAAAGTAGGAAAAGCAGTTTATAAAATAGCATTATGGTATTTATCTGAT TTTTATTAAATAAAGTATAGATATCCAAATACATGGAAAAAGTTGGAAGG CTATATTCCAGGATATTAATTATGATTACCTTAGAGTGGAGTAGTAATGG GTGATTTGGGGCAGTTTAAAAACGTTTTTCATTGAACATGTTACTATGTT TGTAATATGAACATTTTCTAAAATTATATTACATGCTAATGTTTTGTAGA ACACTATAGAGCAATGTTTTAAAAACTATTTTTCCCATAATTTATATGAA GAAATCGCATTGTAGTTTAAGACTCAGGACACACAAACTTGAGAGTATTG ATATTTATGTGTGTGCGTAACTAAAACAAGTTTTCCAAACACTGTTTTAT GCTTCCTAAATGAGCTGCATTATA	T T	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0002 a0003c0009t0002	a0003c0009t0002g0058 a0003c0009t0002g0058	1	138	0.0073	-573	c.165 others(21): Show c.1656+10270_1656+10842del	FER	ENSG00000151422.14	transcript	ENST00000281092.9	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
GALNT9_chr12_132191372_132334589	132234592	AGACAGCG others(566): Show AGACAGCGTGGAGTCCCTGGTGCCACACACTCGATGGGGCGACAGAGGAG ACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGCGTGAGAGAGGAGAC AGCGTGGAGTCCCTAGTGCCACACACTCGATGGCGTGAGAGAGGAGACAG CGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCG TGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTG GAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCATGGA GTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGT CCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGTGTGGAGCCC CTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCT GGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAG TGCCACACACTCGATGGCGTGAGAGAGGAGACAGCGTGGAGTCCCTAGTG CCACACACTCGATGGGGTGACAGG	A A	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03486.hp1 HG02895.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0026 a0001c0001 a0001c0026	a0001c0001t0001 a0001c0026t0014 a0001c0001t0001 a0001c0026t0014	a0001c0001t0001g0149 a0001c0026t0014g0052 a0001c0001t0001g0149 a0001c0026t0014g0052	2	183	0.0109	-573	c.107 others(21): Show c.1077+12745_1077+13317del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
LAMP1_chr13_113292239_113328672	113314053	CCCGTGTG others(566): Show CCCGTGTGCCTGGGGCGTGGCCTCCTGGAGGGAACCAGTGTGGAGATGCC CGTGTGCCTGGGGCGTGGCCTCCCGGAGGGAGTCAGTGTGGAGATGCCCG TGTGCCTGGGGCGTGGCCTACTAGAGGGAGTCAGTGTGGAGATGCCCGTG TGCCTGGGGCGTGGCCTCCTGGAGGGAACCAGTGCGGAGATGTCGGTGTG CCTGGGGCGTGGCCTCCCGGAGGGAGTCAGTGTGGAGATGTCGGTGTGCC TGGGGCGTGGCCTCCTGGAGGGAGCCAGTGCGGAGATGCCCGTGTGCCTG GGGCGGGGCCTCCTGGAGGGAACCAGCGTGGAGATGCCCATGTGCCTGGG GCGTGGCCTCCTAGAGGGAGTCAGTGTGGAGATGCCCGTGTGCCTGGGGC GTGGCCTCCTGGAGGGAACCAGTGTGGAGATGCCAGTGTGCCTGGGGCGT GGCCTCCTAGAGGGAGTCAGTGTGGAGATGCCCGTGTGCCTGGGGCGTGG CCTCCTGGAGGGAACCAGTGTGGAGATGTCGGTGTGCCTGGGGCGTGGCC TCCTAGAGGGAGTCAGTGTGGAGA	C C	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0021 a0002c0002t0002g0021	1	354	0.0028	-573	c.562 others(17): Show c.562+3187_562+3759del	LAMP1	ENSG00000185896.11	transcript	ENST00000332556.5	protein_coding	4/8			chr13	TogoVar
OTUD7A_chr15_31470398_31875673	31510730	AACATACA others(566): Show AACATACATATGTATATCTATATGTAACATACATATGTATATCTATATGT AACATACATATGTATATCTATATGTAACATACATATGTATATCTATATGT AACATACATATGTATATCTATATGTAACATATATGTATATCTATATGTAA CATATATGTATATCTATATGTAACATATATGTATATCTATATGTAACATA TATGTATATCTATATGTAACATATATGTATATCTATATGTAACATATGTA TATCTATATGTAACATATGTATATCTATATGTAACATACATGTATATCTA TATGTAACATACATGTATATCTATATGTAACATACATATATATGTATATC TATATGTAACATACATATGTATATCTATATGTAACATACATATGTATATC TATATGTAACATACATATGTATATCTATATGTAACATACATATGTATATC TATATGTAACACACATATGTATATCTATATGTAACACACATACATATGTA TATCTATATGTAACACACATACATATGTATATCTATATGTAACACACATA CATATGTATATCTATATGTAACAC	A A	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0024 a0001c0002t0024	a0001c0002t0024g0217 a0001c0002t0024g0218 a0001c0002t0024g0217 a0001c0002t0024g0218	2	244	0.0082	-573	c.894 others(17): Show c.894-7485_894-6913del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
RABEP1_chr17_5277284_5391340	5374099	ATCTGTCA others(566): Show ATCTGTCACCCAGGCTGGAGTGCAATGGCATCATCTCTGCTCACTGCAAC CTCCGCCTCACAGGTTTAAACGATTCTCCTGCCTCAGCCTCCCCAGTAGC TGGGATTACAAGCGCCTGCCACCATGCCCAGCTAATTTTTTGCATTTATA GTATAGATGGGGTTTCACCATGTTTGCCAGGCTGGTCTTGAGCTCCTGAC CTCACGTGAGCCACCATGCCCAGCCAAAGATGGCACTTTTGGTCACTTAC ATTCTTCTGTGGTTGGGTAAACCTGGGCTACAAAACTGGTTTCCCAGAGA CATTCATAATTCTCTCCTTAACTTTATCCAAGCTTAATTTTTAATTTTTA TTTTTTGAGACACAGTTTCATTCTGTCCCCTAGGCTGGAGTGCAGTGGTG TGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGTGCGCCAGCACGCTGG GCTAATTTGTTTCTGTATTTTTATTTTTTTTATTATTTTTTATTTTATTT TTATTTTTTGAGATGGAGTCTTGC	A A	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03041.hp1 HG02965.hp2 HG03041.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0012 a0001c0004t0012	a0001c0004t0012g0164 a0001c0004t0012g0165 a0001c0004t0012g0164 a0001c0004t0012g0165	2	352	0.0057	-573	c.202 others(18): Show c.2025+669_2025+1241del	RABEP1	ENSG00000029725.17	transcript	ENST00000537505.6	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
SLC12A7_chr5_1045384_1117063	1071000	GAGCCCCC others(566): Show GAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCA GCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGC ATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGCATCACACTTA TGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCC CAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCAGTGAGCC CCCAGCACACGGTATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAG CCCCCAGCACACGGTATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCA CACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGCATC ACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTAT GCAGCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCC AGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCAGTGAGCCCC CAGCACACGGCATCACACTTATGC	G G	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0114 a0001c0009t0002g0114	1	118	0.0085	-573	c.224 others(19): Show c.2241+2060_2241+2632del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC66A2_chr18_79897420_79956653	79919702	CAGGAACC others(566): Show CAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGG GAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGG TCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAG AGACAGGAACCGAGTGAGAGGTCAGGGTCAGTGAGGAGAGACAGGAACCG AGTGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGGGAGAGGTCA AGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAGGGTCAGTGGAG GAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAA CCGAGTGAGAGGTCAAGGTCAGTGGAGGAGAGACAGGAACCGAGGGAGAG GTCAAGGTCAGTGGGGAGAGACGGAACCGAGGGAGAGGTCAGGGTCAGTG AGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGGAGGAGAGACAG GAACCGAGTGAGAGGTCAAGGTCAGTGAGGAGAGACGGAACCGAGGGAGA GGTCAGGGTCAGTGAGGAGAGACA	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03486.hp1 HG02723.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0021 a0001c0001t0007 a0001c0001t0021	a0001c0001t0007g0269 a0001c0001t0021g0268 a0001c0001t0007g0269 a0001c0001t0021g0268	2	352	0.0057	-573	c.392 others(15): Show c.392-875_392-303del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79920619	AGGAACCG others(566): Show AGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGGG AGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGT CAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGA GACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGA GGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAA GGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGG AGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAAC CGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGG TCAAGCTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTG AGGAGAGACAGGAACCGAGTGAGAGGTCAAGCTCAGTGGGGAGAGATGGA ACCGAGTGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGGGAGAG GTCAGGGTCAGAGGAGGAGAGACG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp2 HG01891.hp1 others(18): Show HG01243.hp1 HG01243.hp2 HG01891.hp1 HG01891.hp2 HG02055.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02976.hp1 HG03486.hp2 HG03516.hp2 NA18522.hp1 NA19030.hp2 NA19043.hp1 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0015 a0001c0001t0023 others(1): Show a0001c0001t0002 a0001c0001t0015 a0001c0001t0023 a0001c0001t0037	a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0149 others(16): Show a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0149 a0001c0001t0002g0154 a0001c0001t0002g0160 a0001c0001t0002g0184 a0001c0001t0002g0216 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0234 a0001c0001t0002g0244 a0001c0001t0015g0222 a0001c0001t0023g0321 a0001c0001t0037g0150	21	352	0.0597	-573	c.392 others(17): Show c.392-1792_392-1220del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
TDRD12_chr19_32714767_32834580	32729359	GGGTATCT others(566): Show GGGTATCTGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACG GAGTTTCATCGTGTTAGCTAGGATGGTCTCGATCTCCTGACCTCGTGATC CGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGT GCCTGGCCTAAATTTTTATTTTTCATTTATGAAATTTACGTTTTCCACAG CTTGTGTGTGTGTATCTATATCTATACATGTATAAATAGATACATATCTA TATACATATAGAGTTTCCATTTCTTAAGTGAGATTCTTTTGTTTTCAACT CACTCTAACCATCTCATCTTTAAGTTCTGTATTTATAATAGCTGTTTTTA AGTCCTCGCCTGTTAATTCCAATATCTGGGTATCTTGGGTTCACTTTCTG GTGACTACTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGT GAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCT CGGCTCACTGCAAGCTCCACCACCCGGTTTCACACCATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGACTACA	G G	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0136 a0001c0001t0004g0136	1	380	0.0026	-573	c.25- others(15): Show c.25-2261_25-1689del	TDRD12	ENSG00000173809.18	transcript	ENST00000639142.2	protein_coding	1/32		INFO_REALIGN_3_PRIME	chr19	TogoVar
ABCC4_chr13_95014835_95306451	95185628	CACACTGC others(565): Show CACACTGCACAGGGCCTGGGGAGAGCCCTTTAATGCCATTATTCACTGAT TTTTATGGCCCAAAGAAGGTAACATAGTATTTATCAGTATTTACCATTTT TTCTATCTTCTAGAACTTATAGCCCTCTATTAAGTATGCTCAGTTTTCAT CAACTATCCACCAGGTTTATGAAAACCTCAGTGTACAATCAAACACTTCA TCTTTTCTGAAAACAATCACTCTCTTGGTGAAATGATACACAATGAAAAA TAAATTTTAAAACAGTTTCCTTTAAATAATAAATTGCACTGTAAATTTAT CCATGTAACCAAAAACCACCCGTACCCCAAAATCTACTGAAACAAATTTT CTTTTTTAAAGGGAGTGGAGAAGGAAACCTGTGGTTTGAGAGGGACCCAA GCAGGAAACATCAGCCAAGTGCACGGTGCAGACATCTTCCGGAGTCTGAC GCAAACCAATGGGTAATGAGATACTAAAGCACTGTAATCTCTGCCTAGCC GGTTGATGATAGCAAGAAATTCTGGTGATTTTTTTTCTTGAGTGAGATGT AATTTTTTTTCAAAAGTGTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0072 a0002c0072	a0002c0072t0002 a0002c0072t0002	a0002c0072t0002g0041 a0002c0072t0002g0041	1	248	0.0040	-572	c.154 others(18): Show c.1545+501_1545+1072del	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	11/30			chr13	TogoVar
ABR_chr17_998519_1184981	1052434	TTCACAGG others(565): Show TTCACAGGGTCAGAGGGAGGGTTCCGGAAGGGGCTGGGGGAGGGCTCACA GGGTCAGAGGGAGGGTTCCGGAAGGGGCTGGGGGAGGGTTCACAGGGTCA GAGGGAGGGTGCCGGAAGGGGCTGGGGGAGGGGTCACAGGGTCAGAGGGA GGGTTCCGGAAGGGGCTGGGGGAGGGGTCACAGGGTCAGAGGGAGGGTTC CGGAAGGGGCTGGGGGAGGGGTCACAGGGTCAGAGGGAGGGTTCCGGAAG GGGCTGGGGGAGGGTTCACAGGGTCAGAGGGAGGGTTCCGGAAGGGGCTG GGGGACGGCTCACAGGGTCAGAGGGAGGGTTCCGGAAGGGGCTGGGGGAG GGTTCACAGGGTCAGAGGGAGGGTTCCGGAAGGGGCTGGGGGAGGGTTCA CAGGGTCAGAGGGAGGGTTCCGGAAGGGGCTGGGGGAGGGGTCACAGGGT CAGAGGGAGGGTTCAGGAAGGGGCTGGGGGAGGGCTCACAGGGTCAGAGG GAGGGTTCCGGAAGGGGCTGGGGGAGGGGTCACAGGGTCAGAGCGAGGGT TCCGGAAGGGGCTGGGGGAGGGC	T T	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	337	0.0030	-572	c.156 others(19): Show c.1562-2372_1562-1801del	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	14/22			chr17	TogoVar
ABR_chr17_998519_1184981	1052522	TTCACAGG others(565): Show TTCACAGGGTCAGAGGGAGGGTGCCGGAAGGGGCTGGGGGAGGGGTCACA GGGTCAGAGGGAGGGTTCCGGAAGGGGCTGGGGGAGGGGTCACAGGGTCA GAGGGAGGGTTCCGGAAGGGGCTGGGGGAGGGGTCACAGGGTCAGAGGGA GGGTTCCGGAAGGGGCTGGGGGAGGGTTCACAGGGTCAGAGGGAGGGTTC CGGAAGGGGCTGGGGGACGGCTCACAGGGTCAGAGGGAGGGTTCCGGAAG GGGCTGGGGGAGGGTTCACAGGGTCAGAGGGAGGGTTCCGGAAGGGGCTG GGGGAGGGTTCACAGGGTCAGAGGGAGGGTTCCGGAAGGGGCTGGGGGAG GGGTCACAGGGTCAGAGGGAGGGTTCAGGAAGGGGCTGGGGGAGGGCTCA CAGGGTCAGAGGGAGGGTTCCGGAAGGGGCTGGGGGAGGGGTCACAGGGT CAGAGCGAGGGTTCCGGAAGGGGCTGGGGGAGGGCTCACAGGGTCAGAGG GAGGGTTCCGGAAGGGGCTGGGGGAGGGTTCACAGGGTCAGAGGGAGGGT TCCGGAAGGGGCTGGGGGAGGGG	T T	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0255 a0001c0001t0004g0255	1	337	0.0030	-572	c.156 others(19): Show c.1562-2460_1562-1889del	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	14/22			chr17	TogoVar
ABR_chr17_998519_1184981	1052815	GGGGCTGG others(565): Show GGGGCTGGGGGAGGGTTCACAGGGTCAGAGGGAGGGTTCCGGAAGGGGCT GGGGGAGGGGTCACAGGGTCAGAGGGAGGGTTCAGGAAGGGGCTGGGGGA GGGCTCACAGGGTCAGAGGGAGGGTTCCGGAAGGGGCTGGGGGAGGGGTC ACAGGGTCAGAGCGAGGGTTCCGGAAGGGGCTGGGGGAGGGCTCACAGGG TCAGAGGGAGGGTTCCGGAAGGGGCTGGGGGAGGGTTCACAGGGTCAGAG GGAGGGTTCCGGAAGGGGCTGGGGGAGGGGTCACAGGGTCAGAGGGAGGG TTCCGGAAGGGGCTGGGGGAGGGGTCACAGGGTCAGAGGGAGGGTTCCGG AAGGGGCTGGGGGAGGGGTCACAGGGTCAGAGGGAGGGTTCCGGAAGGGG CTGGGGGAGGGCTCACAGGGTCAGAGGGAGGGTTCCGGAAGGGGCTGGGG GAGGGTTCACAGGGTCAGAGGGAGGGTTCCGGAAGGGGCTGGGGGAGGGT TCACAGGGTCAGAGGGAGGGTTCGAGAAGGGGCTGGGGGAGGGCTCACAG GGTCAGAGGGAGGGTTCCGGAAC	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02080.hp1 HG02698.hp2 others(5): Show HG00639.hp2 HG02080.hp1 HG02698.hp2 HG03834.hp1 NA18950.hp1 NA18955.hp2 NA18967.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0022 a0001c0007t0003	a0001c0001t0002g0084 a0001c0001t0004g0293 a0001c0001t0006g0075 others(5): Show a0001c0001t0002g0084 a0001c0001t0004g0293 a0001c0001t0006g0075 a0001c0001t0006g0094 a0001c0001t0009g0018 a0001c0001t0010g0321 a0001c0001t0022g0031 a0001c0007t0003g0140	8	337	0.0237	-572	c.156 others(19): Show c.1561+2648_1562-2182del	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	14/22			chr17	TogoVar
ANKRD30B_chr18_14743172_14859667	14858104	CTCCCAGA others(565): Show CTCCCAGACAATGGGCGGCTGGGGAGAGGTGCTCCTCACCTCCCAGATGA TGGGCAGCCAGGCAGAGGCGCTCCTCACTTCCCAGATGGGGCGGCCGGGC AGAGGCGCTCTTCACTTCCCAGATGGCGCGGCCAGGCAGAGGCGCTCCTC AGTTCCCAGATTGTGTGTCGTCCATTCAGAGGCACTCCTCACCTACCAGA TGATGGGCAGCTGGAGGGAGGCACTCCTCACCTCCCAGATGGGGCGACCG GGAAGAGGCGCTCCCCACTTCCCAGACAGGGTGGGAGCTGGGCAGAGGCG CTCCTCACAACCCAGACAGGGTGGCCGGGCAGAGGCACTCCTCACCTCCC AGACAATGGGCAGCCAGGCAGAGGCACTCCTCACTTCCCAGATGGGGCGG CTGGGCAGAGGTGCTCCTCACTTCCCAGATGGGGCAGCTGGGCAGAGGCG CTCCTCACTTCCCAGATGGGGCAACCAGGCAAGAGGTGCTCCTCATTTCC CAGATGGGGCGGCTGGGAAGAGGCACTCCTCACCTACCAGACGAAGGGCA GCCAGGCAGAGGCACTCCTCACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01255.hp2 HG01106.hp1 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0275 a0001c0001t0003g0279 a0001c0001t0003g0275 a0001c0001t0003g0279	2	316	0.0063	-572	c.39 others(11): Show c.3947_*4518del	ANKRD30B	ENSG00000180777.15	transcript	ENST00000690538.1	protein_coding		3438		chr18	TogoVar
DIRAS1_chr19_2709567_2726372	2713669	CCACCTCC others(565): Show CCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCGTCACCT CCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCACCACCTCCTCCA CCCTTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTC ATCCCATCCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCATCCCA TCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCATTCCTC ACTTCCTACACCCACCACCTCCTCCACCCTTCATCCCATTCCTCACTTCC TACACCCACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACC CATCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTCCACCCACCAC CTCCTCCACCCTTCACCCCATCCCTCACTTCCTACACCCATCACCTCCTC CACCCTTCACACCATCCCTCACTTCCTACACCCACCACTTCCTCCACCCT TCATCCCATCCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCACCC CATCCCTCACTTCCTACACCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	412	0.0024	-572	c.29 others(11): Show c.2969_*3540del	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		897		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713732	TCCCATCC others(565): Show TCCCATCCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCATCCCAT CCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCATCCCTCA CTTCCTACACCCACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCT ACACCCGTCACCTCCTCCACCCTTCATCCCATTCCTCACTTCCTACACCC ACCACCTCCTCCACCCTTCATCCCATTCCTCACTTCCTACACCCACCACC TCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCATCACCTCCTCC ACCCTTCATCCCATCCCTCACTTCCTCCACCCACCACCTCCTCCACCCTT CACCCCATCCCTCACTTCCTACACCCATCACCTCCTCCACCCTTCACACC ATCCCTCACTTCCTACACCCACCACTTCCTCCACCCTTCATCCCATCCCT CACTTCCTACACCCACCACCTCCTCCACCCTTCACCCCATCCCTCACTTC CTACACCCGTCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACAC CCACCACCTTCTCAACCCTTCAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00438.hp1 others(114): Show HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp2 HG01070.hp1 HG01081.hp1 HG01081.hp2 HG01123.hp1 HG01175.hp1 HG01261.hp1 HG01361.hp1 HG01361.hp2 HG01516.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp2 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02148.hp2 HG02165.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02615.hp1 HG02717.hp2 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG03195.hp1 HG03669.hp1 HG03927.hp2 HG04204.hp2 NA18612.hp2 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18970.hp2 NA18971.hp2 NA18974.hp2 NA18975.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19012.hp1 NA19012.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19077.hp1 NA19079.hp1 NA19080.hp2 NA19083.hp2 NA19084.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(11): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0015 a0001c0001t0020 a0001c0001t0021 a0001c0002t0001 a0001c0002t0005 a0001c0002t0007 a0001c0002t0034 a0001c0002t0044 a0001c0002t0046 a0001c0002t0047 a0001c0002t0048	a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0021 others(23): Show a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0021 a0001c0001t0005g0022 a0001c0001t0005g0071 a0001c0001t0005g0087 a0001c0001t0005g0095 a0001c0001t0007g0014 a0001c0001t0007g0096 a0001c0001t0015g0035 a0001c0001t0020g0039 a0001c0001t0021g0036 a0001c0002t0001g0002 a0001c0002t0001g0006 a0001c0002t0001g0040 a0001c0002t0001g0068 a0001c0002t0001g0101 a0001c0002t0001g0105 a0001c0002t0005g0009 a0001c0002t0005g0082 a0001c0002t0007g0034 a0001c0002t0034g0084 a0001c0002t0044g0104 a0001c0002t0046g0092 a0001c0002t0047g0072 a0001c0002t0048g0070	117	412	0.2840	-572	c.29 others(11): Show c.2906_*3477del	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		834		chr19	TogoVar
DLGAP2_chr8_732628_1713476	1406175	GTATTGAG others(565): Show GTATTGAGAACTTACTGAGCGCCACCTCCTCGTCCTCCAGAGTCGTGTAT TGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGTGTATTGAG AACTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGCT ACTGAGCGCACCACAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCTGAG TCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTTGTCCTCCTGAGTCGT GTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCAGAGTCGTGTAT TGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCAAAGTCGTGTATTGAG TGCTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGCT TACTGAGCGCCACCTCCTCATCCTCCAGAGTCGTGTATTGAGTGCTTACT GAGCGCTCCCTCCTTGTCCTCCGGAGTCGTGTATTGAGTGCTTACTGAGT GCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCACTC CCTCCTTGTCCTCCGGAGTCGTA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0013 a0002c0001t0002g0013	1	40	0.0250	-572	c.107 others(19): Show c.107-95183_107-94612del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
GAL3ST2_chr2_241771822_241809287	241806950	CCTTCCCT others(565): Show CCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCT CAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC CTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCC CTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGG AACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAG GCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCC TCCCGCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGGGACCC GGGAAGAGCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCC CTCAACCCAGGGACCTCCGCAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	314	0.0032	-572	c.27 others(11): Show c.2785_*3356del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2664		chr2	TogoVar
HNRNPR_chr1_23299688_23349284	23324300	AGCTCACG others(565): Show AGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCA CAAGGTCAGGAGATCGAGACTATCCTGGCTAACATGGTGAAACCCCGTCT CCACTAAAAATACAAAAAATTCTCCGGGCATGGTGGCAGGCGCCTGTACT CCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAGCCCGGGAGGT GGAGCTTGCAGCGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAAC AGAGCAAGACTCCATCTCTAAATAAATAAATAAATAAATAAAAAGCAATC TCAATATTTTTCAGAAACTCCAGTGCTTCAATCTATTCCTCTCTCTATCC AGATATTAAATATTAAATTTTAAGGTATGAAAAAAAACCTCTTCACCATT TGAAGAATTTGTGATCTTTAATTACAAAATTATATACGATTAAATTATAA TATACAATGATAAATTAAAAATTATACAGTCAAAAACCCTCATTTGATAC CAGATTACAATTTTCTTCAAGTTTTTCCAATGTAAGCAACATTAAAAATG TTTTATGTTGGCCGGGCGCGGTG	A A	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	354	0.0028	-572	c.499 others(16): Show c.499-1140_499-569del	HNRNPR	ENSG00000125944.22	transcript	ENST00000302271.11	protein_coding	5/10			chr1	TogoVar
LILRA6_chr19_54231590_54247790	54233207	CCATGGGC others(565): Show CCATGGGCCCTCCACAGGACCTCCATAAGATCTCAATAGGTTCTCCACAG GTTCTCCATAGGTTGTCCATAGAACCTCCACAGGACCTCCATAGGATCTC AATAGAACCCCCACAAGACCTCTATAGGATCTCAATAGAACCCTCACAGG ACCTCCATAGGATCTCAGTAGAACCCCCACAGGACCTCCATAGGATCTCA ATAGAACCCCCACAGGACCTCCATAGGATCTCAATAGAACCCTCACAGGA CCTCCATAGGATCTCAGTAGAACCCCCACAGGACCTCCATAGGATCTCAA TAGAACCCTCACAGGACCTCCATAGGATCTCAGTAGAACCCCCACAGGAC CTCCATAGGATCTCAATAGAACCCCCACAGGACCTCCATAGGATCTCAAT AGAACCCCCACAGGACCTCCATAGGATCTCAATAGGACATCCACAGGACC TCCATAGAATCTCAATAGAACCCCCACAGGACCTCCATAGGATCTCAATA GAACCCCCACAGGACCTCCATAGGATCTCAATAGAACCCCCACAGGACCT CCATAGGATCTCAATAGAACCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG01074.hp1 others(59): Show HG00280.hp2 HG00323.hp1 HG01074.hp1 HG01109.hp1 HG01175.hp2 HG01243.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01516.hp2 HG01943.hp1 HG02055.hp2 HG02056.hp1 HG02148.hp2 HG02293.hp1 HG02293.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02698.hp2 HG02723.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG03041.hp1 HG03041.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 NA18941.hp2 NA18947.hp2 NA18951.hp2 NA18964.hp2 NA18966.hp1 NA18971.hp1 NA18976.hp2 NA18987.hp1 NA19002.hp1 NA19005.hp2 NA19007.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp1 NA19065.hp2 NA19074.hp2 NA19080.hp2 NA19090.hp2 NA20300.hp2	a0001 a0002 a0003 others(16): Show a0001 a0002 a0003 a0004 a0005 a0007 a0010 a0013 a0015 a0016 a0019 a0023 a0025 a0028 a0029 a0042 a0045 a0051 a0070	a0001c0001 a0002c0002 a0002c0070 others(19): Show a0001c0001 a0002c0002 a0002c0070 a0003c0003 a0004c0004 a0005c0006 a0005c0047 a0007c0007 a0007c0050 a0010c0012 a0013c0015 a0015c0010 a0016c0016 a0019c0018 a0023c0075 a0025c0026 a0028c0044 a0029c0045 a0042c0064 a0045c0071 a0051c0057 a0070c0049	a0001c0001t0028 a0001c0001t0032 a0001c0001t0034 others(34): Show a0001c0001t0028 a0001c0001t0032 a0001c0001t0034 a0001c0001t0040 a0001c0001t0044 a0001c0001t0047 a0002c0002t0007 a0002c0002t0008 a0002c0002t0010 a0002c0070t0010 a0003c0003t0007 a0003c0003t0058 a0003c0003t0063 a0004c0004t0062 a0005c0006t0015 a0005c0006t0021 a0005c0006t0026 a0005c0006t0038 a0005c0006t0042 a0005c0047t0015 a0007c0007t0009 a0007c0050t0009 a0010c0012t0068 a0013c0015t0008 a0013c0015t0056 a0015c0010t0009 a0015c0010t0022 a0016c0016t0008 a0019c0018t0045 a0023c0075t0008 a0025c0026t0010 a0028c0044t0043 a0029c0045t0021 a0042c0064t0067 a0045c0071t0073 a0051c0057t0022 a0070c0049t0009	a0001c0001t0028g0067 a0001c0001t0032g0082 a0001c0001t0034g0059 others(42): Show a0001c0001t0028g0067 a0001c0001t0032g0082 a0001c0001t0034g0059 a0001c0001t0040g0072 a0001c0001t0044g0073 a0001c0001t0047g0080 a0002c0002t0007g0027 a0002c0002t0007g0172 a0002c0002t0007g0175 a0002c0002t0008g0017 a0002c0002t0008g0171 a0002c0002t0010g0029 a0002c0002t0010g0176 a0002c0070t0010g0166 a0003c0003t0007g0010 a0003c0003t0007g0141 a0003c0003t0058g0146 a0003c0003t0063g0144 a0004c0004t0062g0165 a0005c0006t0015g0108 a0005c0006t0015g0111 a0005c0006t0015g0113 a0005c0006t0021g0107 a0005c0006t0026g0114 a0005c0006t0038g0106 a0005c0006t0042g0109 a0005c0047t0015g0115 a0007c0007t0009g0025 a0007c0007t0009g0121 a0007c0050t0009g0127 a0010c0012t0068g0197 a0013c0015t0008g0020 a0013c0015t0056g0184 a0015c0010t0009g0119 a0015c0010t0022g0125 a0016c0016t0008g0162 a0019c0018t0045g0054 a0023c0075t0008g0180 a0025c0026t0010g0042 a0028c0044t0043g0101 a0029c0045t0021g0102 a0042c0064t0067g0190 a0045c0071t0073g0205 a0051c0057t0022g0133 a0070c0049t0009g0126	62	450	0.1378	-572	c.51 others(11): Show c.5174_*5745del	LILRA6	ENSG00000244482.11	transcript	ENST00000396365.7	protein_coding		3382		chr19	TogoVar
NEU4_chr2_241804193_241822413	241806923	CCTCAGCC others(565): Show CCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAG GGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCC ACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCTTCCCTCCCGCCTCAGCCCAGGGACCTC CGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAGC TTCCCTCCCCCCTCACGCCAGGGACCCGGGAAGAGCACCTTCCCTCCCCC CTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGG GACCTCCGCAGGCCACCTTCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	319	0.0031	-572	c.-23 others(11): Show c.-2354_-1783del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2269		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806950	CCTTCCCT others(565): Show CCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCT CAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC CTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCC CTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGG AACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAG GCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCC TCCCGCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGGGACCC GGGAAGAGCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCC CTCAACCCAGGGACCTCCGCAGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	319	0.0031	-572	c.-23 others(11): Show c.-2327_-1756del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2242		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806995	CCCCTCAG others(565): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCT CCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGC CCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC TTCCCTCCCGCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCC CTCAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGG GACCCGGGAAGAGCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCC TCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0138 a0002c0008t0002g0138	1	319	0.0031	-572	c.-22 others(11): Show c.-2282_-1711del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2197		chr2	TogoVar
PARVB_chr22_44019302_44177939	44114394	ATTGTTAC others(565): Show ATTGTTACTAAGGCCCTGCACCAACACAGATACATTGTTACTAAGTAAGG CCCTGCACCAACACAGATACATTGTTACTAACTAAGGCCCTGCACCAGCA CAGATATATTGTTACTAAGGCCCTGTACCAACACAGATACATTGTTACTA ACTAAGGCCCTGCACCAACACAGATATGTTGTTACTAAGGCCCTGCACCA ACACAGATACATTGTTACTAAGGCCCTGCACCAACACAGATACATTGTTA CTAAGTAAGGCCCTGCACCAACACAGATACGTTGTTACTAACTAAGGCCC TGCACCAACACAGATACGTTGTTACTAAGTAAGGCCCTGCACCAACACAG ATACATTGTTACTAAGGCCCTGCACCAACACAGATACATTGTTACTAAGT AAGGCCCTGCACCAACACAGATGCATTGTTACTAACTAAGGCCCTGTACC AACACAGATACATTGTTACTAGCTAAGGCCCTGCACCAACACAGATACAT TGTTACTAAGTAAGGCCCTGTACCAACACAGATATATTGTTACTAACTAA GGCCCTGCACCAACACAGATACG	A A	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG02074.hp1 others(15): Show HG01256.hp2 HG01258.hp1 HG02074.hp1 HG02258.hp2 HG02486.hp2 HG02559.hp1 HG02723.hp1 HG03225.hp1 HG03225.hp2 HG03516.hp1 HG03540.hp1 NA18955.hp1 NA18973.hp2 NA18995.hp2 NA18998.hp1 NA19012.hp2 NA19030.hp2 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0006 others(1): Show a0001c0001 a0001c0002 a0003c0006 a0003c0033	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0013 a0001c0001t0024 a0001c0001t0038 a0001c0001t0050 a0001c0001t0057 a0001c0001t0081 a0001c0002t0009 a0001c0002t0062 a0003c0006t0003 a0003c0006t0046 a0003c0033t0002	a0001c0001t0001g0069 a0001c0001t0001g0316 a0001c0001t0002g0068 others(15): Show a0001c0001t0001g0069 a0001c0001t0001g0316 a0001c0001t0002g0068 a0001c0001t0004g0229 a0001c0001t0007g0238 a0001c0001t0009g0091 a0001c0001t0013g0124 a0001c0001t0013g0184 a0001c0001t0024g0076 a0001c0001t0038g0292 a0001c0001t0050g0218 a0001c0001t0057g0117 a0001c0001t0081g0103 a0001c0002t0009g0138 a0001c0002t0062g0077 a0003c0006t0003g0104 a0003c0006t0046g0318 a0003c0033t0002g0195	18	332	0.0542	-572	c.274 others(17): Show c.274-4632_274-4061del	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
SMOC2_chr6_168436184_168672992	168560546	GCCCTGAG others(565): Show GCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTC CTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTT TCATACCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCAT TTTCATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTGTC ATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCGTTCTTGGAGGAGGTG TCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGG TGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGA GGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCATTCTTGGAG GAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACTGCGTTCTTGG AGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCGTTCTT GGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCATTC TTGGAGGAGGTGTCATTTTCATA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0086 a0001c0001t0003g0086	1	180	0.0056	-572	c.637 others(19): Show c.637+11369_637+11940del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168560936	ATTCTTGG others(565): Show ATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCTCTCACT GCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCA CTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCT CACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACACGAGGCT CTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGG CTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGA GGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCCTGAGACAC GAGGCTCTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGAC ACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAG ACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTG AGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCATACCC TGAGACACGAGGCTCTCACTGCG	A A	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA19088.hp2 NA18944.hp2 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0019 a0001c0002t0002g0020	2	180	0.0111	-572	c.637 others(19): Show c.637+11757_637+12328del	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNTG2_chr2_945849_1372613	1106846	GAGTGGTC others(565): Show GAGTGGTCACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTGCTTGGT AATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTGCTTG GTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCT TGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTG CTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGC TCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGA GCTCCTTGATAATAATGGACACGTGCTGTCACTCGGGTGCAGGGTATGGA GAGCTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATG GAGAGCTCCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTA TGGAGAGCTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGG TATGGAGAGCTGCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAG GGTATGGAGAGCTCCTTGGTAAT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00735.hp2 HG01074.hp2 others(6): Show HG00323.hp2 HG00735.hp2 HG01074.hp2 HG01257.hp2 HG02109.hp2 HG02280.hp1 NA19043.hp2 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0007 a0013 a0016	a0001c0001 a0002c0003 a0003c0008 others(3): Show a0001c0001 a0002c0003 a0003c0008 a0007c0016 a0013c0020 a0016c0034	a0001c0001t0001 a0002c0003t0001 a0003c0008t0001 others(4): Show a0001c0001t0001 a0002c0003t0001 a0003c0008t0001 a0003c0008t0002 a0007c0016t0001 a0013c0020t0001 a0016c0034t0001	a0001c0001t0001g0057 a0002c0003t0001g0098 a0002c0003t0001g0183 others(6): Show a0001c0001t0001g0057 a0002c0003t0001g0098 a0002c0003t0001g0183 a0003c0008t0001g0060 a0003c0008t0002g0072 a0007c0016t0001g0033 a0013c0020t0001g0142 a0013c0020t0001g0143 a0016c0034t0001g0146	9	190	0.0474	-572	c.325 others(17): Show c.325+8442_325+9013del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1107886	TAGTGGAC others(565): Show TAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGT AAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTG GTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCT TGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTC CTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGC TCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGA GCTGCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGA GAGCTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATG GAGAGCTCCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTA TGGAGAGCTCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGG TATGGAGAGCTGCTTGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAG GGTATGGAGAGCTCCTTGGTAAG	T T	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0082 a0005c0006t0001g0082	1	190	0.0053	-572	c.325 others(18): Show c.325+9519_325+10090del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1108416	GTGCTGTC others(565): Show GTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGTAAGAGTGGAC ACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTGCTTGGTAATAGTGG ACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGTAAGAGT GGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTGCTTGGTAATA GTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGTAA GAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTGGT AATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTCCTTG GTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTGCT TGGTAATAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGCTC CTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGAGC TCCTTGGTAAGAGTGGACACGTGCTGTCACTCGGGTGCAGGGTATGGAGA GCTCCTTGGTAAGAGTGGACACA	G G	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	190	0.0053	-572	c.325 others(19): Show c.325+10039_325+10610del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238880217	ATTAGTGT others(565): Show ATTAGTGTTAGTATTTATTAGTATTAGTGTTAGTATTTATTGGTATTAGT GTTAGTACTAGTATTTATTAGTGTTAGTGTTATTGTTAGTGTTAGTGTTG GTATTTATTATTATTAGTGTTAGTGTCAGTATTAGTGTTAGTATTTATTT GTGTTAGCATTAGTATTAATGTTAGTGTTAGTATTTATTAGTGTTAGTGT TGGTAATATTTATTAGCATTAGTGTTAGTGTTAGTATTTATTAGTATTAG TTACTATTTATTAGTGTCAGTGTTAGTGTTAGTGTCAGCATTAGTATTAG TGTGTTAGTATTGGTATTAGTGTTAGTGTTAGTATTTATTAGTATTAGTA TTACTGTTAGTATTAGTATTAGTGTTATGTTAGTATTAGTGTTAGTATTT ATTAGTATTAGTGTTACTGTTAGTCTTAGTGTTAGTGTCAGTATTAGTAT TAGTGTTAGTGTCAGTATTAGTGTATTTATTAGTGTTAGCATTAGTATTA ATGTTAGTATCTATTAGTATTAGTGTTAGTGTTGGTGTTAATATTAGCAT TAGTGTCAGTGTTAGTATTAGTG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp2 HG00642.hp1 others(14): Show HG00140.hp2 HG00438.hp2 HG00642.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG01106.hp2 HG01169.hp2 HG01515.hp2 HG02055.hp2 HG02145.hp1 HG02257.hp1 HG02735.hp1 HG02738.hp2 HG03704.hp1 NA18522.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0085 a0001c0001t0001g0127 a0001c0001t0001g0133 others(14): Show a0001c0001t0001g0085 a0001c0001t0001g0127 a0001c0001t0001g0133 a0001c0001t0001g0170 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0199 a0001c0001t0001g0206 a0001c0001t0001g0213 a0001c0001t0001g0225 a0001c0001t0001g0281 a0001c0001t0002g0103 a0001c0001t0002g0187 a0001c0001t0002g0217 a0001c0001t0003g0254 a0001c0001t0003g0260 a0001c0001t0003g0261	17	338	0.0503	-572	c.36 others(19): Show c.36-29025_*36-28454del	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar

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Search Results (Total: 10000 hits)