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
PPP1R12B_chr1_202343699_202597702	202391570	TTGAAGAT others(173): Show TTGAAGATAAATGAATTATCTTCAGGTGTACTGAAGATAAATGAATTATC TTCAGGTGTACTGAAGATAAATGAATTATCTTCAGGTGTACTGAAGATAA ATGAATTATCTTCAGGTGTACTGAAGATAAATGAATTATCTTCAGGTGTA CTGAAGATAAATGAATTATCTTCAGGTGTAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00733.hp1 HG01192.hp1 others(7): Show HG00099.hp1 HG00733.hp1 HG01192.hp1 HG01433.hp1 HG02717.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG03041.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0027 others(4): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0027 a0001c0001t0037 a0001c0001t0040 a0001c0001t0062 a0001c0001t0063	a0001c0001t0002g0235 a0001c0001t0006g0207 a0001c0001t0006g0236 others(7): Show a0001c0001t0002g0235 a0001c0001t0006g0207 a0001c0001t0006g0236 a0001c0001t0006g0237 a0001c0001t0027g0129 a0001c0001t0027g0130 a0001c0001t0037g0006 a0001c0001t0040g0247 a0001c0001t0062g0131 a0001c0001t0063g0159	10	254	0.0394	-180	c.292 others(19): Show c.292-24812_292-24633del		PPP1R12B	ENSG00000077157.23	transcript	ENST00000608999.6	protein_coding	1/23					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM15_chr21_41793225_41884344	41806042	CCATCACC others(173): Show CCATCACCACCACCACCATCACCATCACCACCACCATCACCACCACCACC ATCACCACCACCATCACCACCACCACCACCACCATCACCACCACCATCAC CACCACCACCACCATCACCATCACCACCACCATCACCACCACCACCATCA CCACCACCACCATCACCATCACCATCACCAT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0010 a0001c0011t0010	a0001c0011t0010g0020 a0001c0011t0010g0020	1	406	0.0025	-180	c.265 others(19): Show c.2653-1608_2653-1429del		PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	21/23						chr21	TogoVar
PRKAG2_chr7_151551127_151882115	151874345	TATGTATA others(173): Show TATGTATATGATGTATATGTATATGTATATGATGTATATGTATATGATGT ATATGTATATGTATATGATGTATATGTATATGTATATGATGTATATGTAT ATGTATATGATGTATATGTATATGTATATGATGTATATGTATATGATGTA TATGTATATGATGTATATGTATATGTATATG	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0231 a0001c0001t0004g0231	1	252	0.0040	-180	c.114 others(17): Show c.114+1982_114+2161del		PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15						chr7	TogoVar
PRKD1_chr14_29571479_29932847	29826312	ATATATAC others(173): Show ATATATACATATATATGATGGAATATATATATACATATATATGATGGAAT ATATATATACATATATATGATGGAATATATATATACATATATATGATGGA ATATATATATACATATATGATGGAATATATATATACATATATATGATGGA ATATATATACATATATATGATGGAATATATG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00738.hp1 HG01071.hp1 others(31): Show HG00408.hp1 HG00738.hp1 HG01071.hp1 HG01106.hp1 HG01109.hp1 HG01167.hp2 HG01255.hp2 HG01358.hp2 HG01433.hp1 HG01928.hp2 HG01981.hp1 HG02056.hp2 HG02486.hp1 HG02602.hp2 HG03130.hp2 HG03209.hp1 HG03239.hp1 HG03453.hp1 HG03486.hp2 HG03654.hp2 HG03942.hp2 NA18747.hp1 NA18747.hp2 NA18946.hp2 NA18954.hp1 NA18971.hp1 NA18983.hp2 NA18987.hp2 NA18999.hp2 NA19012.hp2 NA19064.hp1 NA19079.hp1 NA20752.hp1 NA20752.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0002 a0001c0016 others(4): Show a0001c0001 a0001c0002 a0001c0016 a0002c0004 a0002c0005 a0004c0008 a0005c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0009 a0001c0016t0001 a0002c0004t0001 a0002c0005t0002 a0004c0008t0001 a0005c0014t0003	a0001c0001t0001g0018 a0001c0001t0001g0037 a0001c0001t0001g0061 others(31): Show a0001c0001t0001g0018 a0001c0001t0001g0037 a0001c0001t0001g0061 a0001c0001t0001g0076 a0001c0001t0001g0104 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0002g0074 a0001c0001t0002g0122 a0001c0001t0003g0142 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0149 a0001c0001t0004g0144 a0001c0001t0005g0005 a0001c0001t0008g0007 a0001c0002t0001g0023 a0001c0002t0001g0028 a0001c0002t0001g0035 a0001c0002t0001g0042 a0001c0002t0001g0058 a0001c0002t0001g0085 a0001c0002t0001g0087 a0001c0002t0001g0108 a0001c0002t0002g0027 a0001c0002t0004g0155 a0001c0002t0004g0156 a0001c0002t0009g0008 a0001c0016t0001g0068 a0002c0004t0001g0130 a0002c0005t0002g0129 a0004c0008t0001g0016 a0004c0008t0001g0017 a0005c0014t0003g0148	34	156	0.2180	-180	c.264 others(21): Show c.264+100757_265-100639del		PRKD1	ENSG00000184304.17	transcript	ENST00000331968.11	protein_coding	1/17						chr14	TogoVar
PRPF8_chr17_1645629_1689867	1689388	GCTTCCCA others(173): Show GCTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCCATCTCCCTCCCGGA CGGGGCGGCTGGCCAGGCGAGGGGCTGACCCCCCCACCTCCCTCCCGGAT GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0227 a0001c0002t0001g0227	1	291	0.0034	-180	c.-48 others(11): Show c.-4800_-4621del		PRPF8	ENSG00000174231.18	transcript	ENST00000304992.11	protein_coding					4522		chr17	TogoVar
PTGES3L_chr17_42963103_42985080	42967175	TATATAAT others(173): Show TATATAATATAATATATAAAATATATATTATATAATATATAATATAATAT ATAAAATATATATTATATAATATATAATATAATATATAAAATATATATTA TATAATATATAATATAATATATAAAATATATATTATATAATATATAATAT AATATATAAAATATATATTATATAATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0191 a0005c0006t0001g0191	1	336	0.0030	-180	c.17 others(11): Show c.1793_*1972del		PTGES3L	ENSG00000267060.7	transcript	ENST00000591916.7	protein_coding					927		chr17	TogoVar
RGPD4_chr2_107821892_107897544	107827191	CGGCGCTG others(173): Show CGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGCGGCGGCCTCGACCCGGCC CGGCGGCGGCCTCGATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCT CCCTGGCGCGCTCTGTTGAGGCGGCGGCCTCGACCCGGCCCGGCGGCGGC CTCGATGGCTCAGGCGTCATGCCTCCCGACG	C C	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0045 a0045	a0045c0038 a0045c0038	a0045c0038t0001 a0045c0038t0001	a0045c0038t0001g0212 a0045c0038t0001g0212	1	374	0.0027	-180	c.72+ others(13): Show c.72+160_72+339del		RGPD4	ENSG00000196862.10	transcript	ENST00000408999.4	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
RGPD4_chr2_107821892_107897544	107827416	CGGCCCGG others(173): Show CGGCCCGGCCGCGGCCGCGATGGCTCAGGCGTCATGGCTCCCGACGGGCG CTGCTCCCTGGCGCGCTCTGTTGAGGCGGAGGCCTCGACCCGGCCCGGTG GCGGCCTCGATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCCCTG GCGCGCTCTGTTGAGGCGGCGGCCTCGACCT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02257.hp2 HG02451.hp1 others(7): Show HG01081.hp2 HG02257.hp2 HG02451.hp1 HG02717.hp1 HG02886.hp2 HG02895.hp1 HG02970.hp2 HG03041.hp1 HG03139.hp1 HG03471.hp1	a0006 a0006	a0006c0007 a0006c0008 a0006c0077 a0006c0007 a0006c0008 a0006c0077	a0006c0007t0005 a0006c0008t0005 a0006c0008t0012 others(1): Show a0006c0007t0005 a0006c0008t0005 a0006c0008t0012 a0006c0077t0030	a0006c0007t0005g0196 a0006c0008t0005g0204 a0006c0008t0005g0205 others(7): Show a0006c0007t0005g0196 a0006c0008t0005g0204 a0006c0008t0005g0205 a0006c0008t0005g0206 a0006c0008t0005g0207 a0006c0008t0005g0208 a0006c0008t0012g0202 a0006c0008t0012g0203 a0006c0008t0012g0209 a0006c0077t0030g0201	10	374	0.0267	-180	c.72+ others(13): Show c.72+340_72+519del		RGPD4	ENSG00000196862.10	transcript	ENST00000408999.4	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
RGPD4_chr2_107821892_107897544	107828266	ATCATGGC others(173): Show ATCATGGCTCCCGACGGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGCGGC GGCCTCGACCCGGCCCGGCGGCGGCCTCGATGGCTCAGGCGTCATGGCTC CCGACCGGCGCTGCTCCCTGGCGTGCTCTGTTGAGGCGGCGGCCTCGACC CGGCCCCGCGGCGGCCTCGATGGCTCAGGCG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0314 a0001c0001t0001g0314	1	374	0.0027	-180	c.72+ others(15): Show c.72+1286_72+1465del		RGPD4	ENSG00000196862.10	transcript	ENST00000408999.4	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
RGPD4_chr2_107821892_107897544	107829276	CGGCCCGG others(173): Show CGGCCCGGCGGCGGCCTGGATGGCTCAGGCGTCATGGCTCCCGATGGGCG CTGCTCCCTGGCGCGCTCTGTTGAGGCGGCGGCCTCTACCTGGCCCGGCG GCGGCCTCGATGGCTCAGGCGTCATGGCTACCGACGGGCGCTGCTCCCTG GCGCGCTCTGTTGAGGCGGCGGCCTCTACCT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 NA18960.hp2 NA19064.hp1 others(1): Show HG00323.hp1 NA18960.hp2 NA19064.hp1 NA19077.hp1	a0002 a0004 a0002 a0004	a0002c0003 a0004c0004 a0002c0003 a0004c0004	a0002c0003t0002 a0004c0004t0002 a0002c0003t0002 a0004c0004t0002	a0002c0003t0002g0136 a0002c0003t0002g0137 a0002c0003t0002g0138 others(1): Show a0002c0003t0002g0136 a0002c0003t0002g0137 a0002c0003t0002g0138 a0004c0004t0002g0087	4	374	0.0107	-180	c.72+ others(15): Show c.72+2208_72+2387del		RGPD4	ENSG00000196862.10	transcript	ENST00000408999.4	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
RIMBP2_chr12_130391133_130721299	130646142	ACCACCTG others(173): Show ACCACCTGCCTCTCCACCTCCCTCACCACCTGCCTCTCCACCTCCCTCAC CACTTCCCTCTCCACCTCCCTCTCCACCTCCCTCACCACCTGCCTCTCCA CCTCCCTCACCACTTCCCTCTCCACCTGCCTCACCACCTCCCTCACCACC TGCCTCTCCACCTCCCTCACCACTTCCCTCT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0063 a0001c0002t0001g0063	1	180	0.0056	-180	c.-35 others(21): Show c.-351-17866_-351-17687del		RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22						chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130646173	GCCTCTCC others(173): Show GCCTCTCCACCTCCCTCACCACTTCCCTCTCCACCTCCCTCTCCACCTCC CTCACCACCTGCCTCTCCACCTCCCTCACCACTTCCCTCTCCACCTGCCT CACCACCTCCCTCACCACCTGCCTCTCCACCTCCCTCACCACTTCCCTCT CCACCTGCCTCACCACCTCCCTCACCACCTC	G G	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01256.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0003t0001 a0001c0001t0005 a0001c0003t0001	a0001c0001t0005g0078 a0001c0003t0001g0077 a0001c0001t0005g0078 a0001c0003t0001g0077	2	180	0.0111	-180	c.-35 others(21): Show c.-351-17897_-351-17718del		RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22						chr12	TogoVar
RNF223_chr1_1065967_1079306	1076525	TGGCTGAG others(173): Show TGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACT CCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGC TACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGG AGGCTGAGGCTACGGGGACTCCGTGGGGGGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG03486.hp2 HG06807.hp1 others(1): Show HG01891.hp2 HG03486.hp2 HG06807.hp1 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0001 a0002c0003t0002 a0002c0003t0015 a0002c0002t0001 a0002c0003t0002 a0002c0003t0015	a0002c0002t0001g0003 a0002c0003t0002g0004 a0002c0003t0015g0023 a0002c0002t0001g0003 a0002c0003t0002g0004 a0002c0003t0015g0023	4	324	0.0124	-180	c.-26 others(11): Show c.-2699_-2520del		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					2220		chr1	TogoVar
RNF223_chr1_1065967_1079306	1077301	CGGGAGGC others(173): Show CGGGAGGCTGAGTCTATGGGGACTCTGTGCCGGGAGGCTGAGGCTACGGG GACTCCGTGCCGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTG AGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGG GGGGAGGCTGAGGCTATGGGGACTCCGTGGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0017 a0001c0001t0011g0017	1	324	0.0031	-180	c.-34 others(11): Show c.-3475_-3296del		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					2996		chr1	TogoVar
RNF223_chr1_1065967_1079306	1079105	AGGCTGAG others(173): Show AGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACT CCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGC TATGGGGACTCCGTGGGGGGTGGCTGAGGCTATGGGGACTCCGTGGGGGG AGGCTGAGGCTATGGGGACTCCGTGGGGGGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG03041.hp2 NA21309.hp2 HG02922.hp2 HG03041.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0017 a0001c0001t0011g0017	3	324	0.0093	-180	c.-52 others(11): Show c.-5279_-5100del		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					4800		chr1	TogoVar
RPH3AL_chr17_207389_357807	221332	GTGAGACA others(173): Show GTGAGACAATAGACCCAAGCACAACAGCTCTGAGGGCTCCACTCACTGAG ACAACAGACCCAAGAACAACAGCTCTGAGGCCTCCACTCACTGAGACAAT AGACCCAAGCACATCAGCTCTGAGGCCTCCACTCACTGAGACAATAGACC CAAGCACATCAGCTCTGAGGCCTCCACTCAC	G G	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0084 a0001c0001t0003g0084	1	133	0.0075	-180	c.614 others(17): Show c.614-1776_614-1597del		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9						chr17	TogoVar
RPH3AL_chr17_207389_357807	221602	GTGAGACA others(173): Show GTGAGACAATAGACCCAAGCACAACAGCTCTGAGGGCTCCACTCACTGAG ACAATAGACCCAAGTGCATCAGCTCTGAGGGCTCCACTCACTGAGACAAT AGACCCAAGCACATCAGCTCTGAGGCCTCCACTCACTGAGACAATAGACC CAAGAACAACAGCTCTGAGGCCTCCACTCAC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(3): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00323.hp2 HG01258.hp2 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0016	a0001c0001t0001g0040 a0001c0001t0001g0065 a0001c0001t0001g0086 others(3): Show a0001c0001t0001g0040 a0001c0001t0001g0065 a0001c0001t0001g0086 a0001c0001t0002g0116 a0001c0001t0003g0098 a0001c0001t0016g0082	6	133	0.0451	-180	c.614 others(17): Show c.614-2046_614-1867del		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9						chr17	TogoVar
RPS6KA6_chrX_84053350_84193199	84191603	CATATATA others(173): Show CATATATATATCCATATATATATATCCATATATATATATCCATATATATA TATCCATATATATATATCCATATATATATATCCATATATATATATCCATA TATATATATCCATATATATATATCCATATATATATATCCATATATATATC CATATATATATATCCATATATATATATCCAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0234 a0001c0001t0012g0234	1	272	0.0037	-180	c.-38 others(11): Show c.-3884_-3705del		RPS6KA6	ENSG00000072133.12	transcript	ENST00000262752.5	protein_coding					3405		chrX	TogoVar
RPTOR_chr17_80539838_80971368	80744289	TCCTGGCT others(173): Show TCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGC ACAGCCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGTTAC GAGCACTGTCCTGGCTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGG CTACTAGCACTGTCCTGGTTACTAGCACAGC	T T	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0043 a0001c0026t0043	a0001c0026t0043g0096 a0001c0026t0043g0096	1	196	0.0051	-180	c.655 others(17): Show c.655-9715_655-9536del		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744685	CCCTGGCT others(173): Show CCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGCTACTAGC ACTGTCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGCTAC TAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGG TTACTAGCACTGTCCTGGCTACTAGCACTGT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02897.hp1 HG02886.hp1 HG02897.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0030 a0001c0007t0030	a0001c0007t0030g0018 a0001c0007t0030g0020 a0001c0007t0030g0018 a0001c0007t0030g0020	2	196	0.0102	-180	c.655 others(17): Show c.655-9319_655-9140del		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RTN4RL1_chr17_1929677_2030334	2013540	GCTGGAAC others(173): Show GCTGGAACATAAATACCCCTGCTCCCTCACCCTGGAACATAAATACCCCA GCTCCCTCACCCTGGAACATAAATACCCCAGCTCCCTCACCCTGGAACAT AAATACCCCAGCTCTCTCACCCTGGAACATAAATACCCCAGCTGTCTCAC CCTGGAACATAAATACGCCAGCTCCCTCACC	G G	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA18522.hp2 HG03453.hp1 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0009 a0001c0002 a0001c0009	a0001c0002t0038 a0001c0009t0134 a0001c0002t0038 a0001c0009t0134	a0001c0002t0038g0088 a0001c0009t0134g0301 a0001c0002t0038g0088 a0001c0009t0134g0301	2	384	0.0052	-180	c.13+ others(17): Show c.13+11133_13+11312del		RTN4RL1	ENSG00000185924.7	transcript	ENST00000331238.7	protein_coding	1/1						chr17	TogoVar
RTN4RL1_chr17_1929677_2030334	2013559	TGCTCCCT others(173): Show TGCTCCCTCACCCTGGAACATAAATACCCCAGCTCCCTCACCCTGGAACA TAAATACCCCAGCTCCCTCACCCTGGAACATAAATACCCCAGCTCTCTCA CCCTGGAACATAAATACCCCAGCTGTCTCACCCTGGAACATAAATACGCC AGCTCCCTCACCCTGGAACATAAATACCCCA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02559.hp1 HG03098.hp2 HG00408.hp1 HG02559.hp1 HG03098.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0008 a0001c0001 a0003c0008	a0001c0001t0005 a0001c0001t0084 a0003c0008t0114 a0001c0001t0005 a0001c0001t0084 a0003c0008t0114	a0001c0001t0005g0258 a0001c0001t0084g0111 a0003c0008t0114g0181 a0001c0001t0005g0258 a0001c0001t0084g0111 a0003c0008t0114g0181	3	384	0.0078	-180	c.13+ others(17): Show c.13+11114_13+11293del		RTN4RL1	ENSG00000185924.7	transcript	ENST00000331238.7	protein_coding	1/1						chr17	TogoVar
SEMG1_chr20_45202033_45214768	45208176	AGAAGAAA others(173): Show AGAAGAAAGACGACTCCACTATGGAGAAAATGGTGTGCAGAAAGATGTAT CCCAAAGCAGTATTTATAGCCAAACTGAAGAGAAAGCACAGGGCAAGTCT CAAAAACAGATAACAATTCCCAGTCAAGAGCAAGAGCATAGCCAAAAGGC AAATAAAATATCATACCAATCTTCAAGTACG	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01070.hp2 HG01071.hp1 HG01192.hp1 others(7): Show HG01070.hp2 HG01071.hp1 HG01192.hp1 HG01346.hp2 HG01516.hp1 HG02109.hp1 HG03654.hp1 HG04228.hp2 NA18989.hp2 NA20752.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0001 a0003c0004t0001g0001	10	408	0.0245	-180	c.934 others(8): Show c.934_1113del	p.Ser others(13): Show p.Ser312_Gln371del	SEMG1	ENSG00000124233.12	transcript	ENST00000372781.4	protein_coding	2/3	955/1622	934/1389	312/462		INFO_REALIGN_3_PRIME	chr20	TogoVar
SERPINF2_chr17_1737871_1760265	1740213	AGCCTGAT others(173): Show AGCCTGATGCAGGGAGTGAGGCACAGGACAGTGAGGGTGGGAAGTGGCCT GATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGC AGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGA GTGAGGCGCAGGACAGTGAGGGTGGGAAGGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG03139.hp1 HG02451.hp2 HG03139.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0013 a0003c0003t0001g0026 a0003c0003t0001g0013 a0003c0003t0001g0026	2	445	0.0045	-180	c.-26 others(11): Show c.-2699_-2520del		SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding					2657		chr17	TogoVar
SHOX_chrX_625791_656584	636543	AAAAATAT others(173): Show AAAAATATATATAAACATATATACATATAAAGAAATATATATAAACATAT ATACATATAAAATATACATATATAAACATATATATACATATAAAGAAATA TATATAAACATATATACATATAAAATATACATATATAAACATATATATAC ATAAAATATATATATAAACATATATATACAT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02630.hp2 HG02109.hp1 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0096 a0001c0001t0180 a0001c0001t0096 a0001c0001t0180	a0001c0001t0096g0121 a0001c0001t0180g0200 a0001c0001t0096g0121 a0001c0001t0180g0200	2	220	0.0091	-180	c.486 others(17): Show c.486+1730_486+1909del		SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding	2/4					INFO_REALIGN_3_PRIME	chrX	TogoVar
SKI_chr1_2223319_2315213	2269784	ACCTGTGG others(173): Show ACCTGTGGCTGGCGTGGGTCTGGCGGGTCTGGTGGTGCCTGTGGCTGGCG TGGGTCTGGCGGGTCTGGTGGTGCCTGTGGCTGGCGTGGGTCTGGCGGGT CTCGTGGTGCCTGTGGCTGGCGTGGGTCTGGCGGGTCTGGTGGTGCCTGT GGCTGGCGTGGGTCTGGCGGGTCTCGTGGTG	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0261 a0001c0001t0035g0261	1	330	0.0030	-180	c.970 others(19): Show c.970-33126_970-32947del		SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC2A13_chr12_39750025_40111081	39817260	TGCTCATT others(173): Show TGCTCATTTTAGGGTGGTCCATGTGGTGTGCTAGGGTGGGATGCAGGAGG TCATTAGACAAGGTTACACTGCTGTTACAAGTCACAGGCAAATCCACAGA ATGATCAGTTCCATTACTGTTTCCATTTAGGATGGGGTGTGCTGGCTTCT AGTTGTGGGTCATCTGCTCCACAGATTTAGG	T T	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0165 a0001c0001t0003g0165	1	214	0.0047	-180	c.144 others(21): Show c.1445+12663_1445+12842del		SLC2A13	ENSG00000151229.13	transcript	ENST00000280871.9	protein_coding	7/9						chr12	TogoVar
SLC7A1_chr13_29504414_29600688	29559191	GGGGGAGA others(173): Show GGGGGAGAGAATGTGAGTGAGGGGGAGTGAATGTGAGTGACGGGGAGTGA ATGTGAGTGAGGGGGGAGAGAATGTGAGTGAGGGGGAGTGAATGTGAGTG AGGGGGAGAGAATGTGAGTGAGGGGGAGAGAATGTGAGTGAGGGGGAGTG AATGTGAGTGAGGGGGAGTGAATGTGAGTGA	G G	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0016 a0001c0002t0007g0016	1	330	0.0030	-180	c.-11 others(19): Show c.-114-5511_-114-5332del		SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12						chr13	TogoVar
SPAG16_chr2_213279464_214415501	213980200	ATATATAT others(173): Show ATATATATATAGAATATATGTGTGTATATATATTCTCTATATATATAGAA TATATGTGTGTATATATATTCTCTATATATATAGAATATATGTGTGTATA TATATTCTCTATATATATAGAATATATGTGTGTATATATATTCTCTATAT ATATAGAATATATGTGTGTATATATATTCTC	A A	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG03098.hp2 HG03579.hp2 others(3): Show HG02293.hp1 HG03098.hp2 HG03579.hp2 HG06807.hp1 NA18522.hp2 NA19043.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0006 a0001c0001 a0002c0002 a0006c0006	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0006c0006t0001	a0001c0001t0001g0039 a0001c0001t0002g0009 a0002c0002t0001g0003 others(3): Show a0001c0001t0001g0039 a0001c0001t0002g0009 a0002c0002t0001g0003 a0002c0002t0001g0010 a0002c0002t0002g0073 a0006c0006t0001g0024	6	86	0.0698	-180	c.140 others(21): Show c.1401-33715_1401-33536del		SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
STAT3_chr17_42308324_42393442	42337901	TGACCTGA others(173): Show TGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT TGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTG	T T	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	302	0.0033	-180	c.551 others(14): Show c.551-224_551-45del		STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23						chr17	TogoVar
STAT3_chr17_42308324_42393442	42338201	GGACCTGA others(173): Show GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTT	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0075	1	302	0.0033	-180	c.550 others(15): Show c.550+350_551-345del		STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23						chr17	TogoVar
STAT3_chr17_42308324_42393442	42338341	GGACCTGA others(173): Show GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTTGACCTGAGGGAATACTCCTT	G G	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	302	0.0033	-180	c.550 others(15): Show c.550+210_550+389del		STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23						chr17	TogoVar
SYNPR_chr3_63273308_63621924	63313874	CATATATA others(173): Show CATATATATATCCATATATATATATCCATATATATATCCATATATATATA TATCCATATATATATATATCCATATATATATATATCCATATATATATATC CATATATATATATATCCATATATATATATATCCATATATATATATCCATA TATATATATATCCATATATATATATATCCAT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02896.hp1 HG02895.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0218 a0001c0001t0003g0219	2	246	0.0081	-180	c.84+ others(17): Show c.84+35143_84+35322del		SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr3	TogoVar
TAFA1_chr3_67999247_68550621	68077729	AAGTCAGG others(173): Show AAGTCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTTTGGCTTAGGATAGA CTTGGCGATGCGGGCTCTTTTTTGGTTCCATATGAACTTTAAAGTAGTTT TTTTCCAATTCTGTGAAGAAAGGCATTGGTAGCTTGATGGGGATGGCATT GAATCTGTAAATTACCTTGGGCAGTATGGAC	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0008 a0001c0001t0008g0008	1	156	0.0064	-180	c.118 others(19): Show c.118+70987_118+71166del		TAFA1	ENSG00000183662.12	transcript	ENST00000478136.6	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr3	TogoVar
TFDP1_chr13_113579753_113646473	113625473	TGTTTCTC others(173): Show TGTTTCTCAGGTGTCTCTCACGTGTTCTCAGGTGTCTCTCACGTGTCCTC AGGTGTTTCTCAGGTGTCTCTCACGTGTCCTCAGGTGTCTCTCACGTGTC CTCAGGTGTTTCTCAGGTGTCTCTCACGTGTCTTCAGGCGTCTCTCACGT GTCCTCAGGCGTCTCTCACGTGTCCTCAGGC	T T	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	348	0.0029	-180	c.186 others(17): Show c.186+2190_186+2369del		TFDP1	ENSG00000198176.13	transcript	ENST00000375370.10	protein_coding	4/11					INFO_REALIGN_3_PRIME	chr13	TogoVar
THSD4_chr15_71110471_71788383	71724879	GTACCATT others(173): Show GTACCATTTACTGAGATAAGAAACACTGAGGCCGGGGTTGGGTTCAGCCT TAGACAAGACATCTGACTAAAGCTGGCAAGGAGGTAATTAAATAAGATTT GATGACGGGTTAGATTTGGGGGGATAGGAAGAGAGGAGGTATCCAGGATG ATTCCTGGGTTTCTGATTACATGGATGGTGA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03486.hp2 NA20129.hp2 HG02257.hp2 HG03486.hp2 NA20129.hp2	a0001 a0001	a0001c0004 a0001c0007 a0001c0004 a0001c0007	a0001c0004t0005 a0001c0004t0008 a0001c0007t0007 a0001c0004t0005 a0001c0004t0008 a0001c0007t0007	a0001c0004t0005g0109 a0001c0004t0008g0051 a0001c0007t0007g0070 a0001c0004t0005g0109 a0001c0004t0008g0051 a0001c0007t0007g0070	3	116	0.0259	-180	c.135 others(19): Show c.1358-3490_1358-3311del		THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	8/17					INFO_REALIGN_3_PRIME	chr15	TogoVar
TICAM1_chr19_4810932_4836712	4830000	AGGGTTTC others(173): Show AGGGTTTCGCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTG ATCTGCCTGGGATTACAGGCGTGAGCCACCTGCCCAGCCCCATTTCATTT TTTTTAGAGACAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTAGTG GGATCACGGCTCACTGCAGCCTTGAACTCCC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA19030.hp2 HG01884.hp1 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0041 a0001c0002t0001g0042	2	412	0.0049	-180	c.-14 others(19): Show c.-140+1434_-140+1613del		TICAM1	ENSG00000127666.11	transcript	ENST00000248244.6	protein_coding	1/1						chr19	TogoVar
TNC_chr9_115014575_115123157	115095448	ATATATAT others(173): Show ATATATATATGTATATATATATGTATATATATGTATATATATATGTATAT ATATGTATATATATATGTATATATATGTATATATATATGTATATATATGT ATATATATGTATATATATGTATATATATGTATATATATGTATATATATGT ATATATATATGTATATATGTATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00642.hp1 HG01192.hp2 others(2): Show HG00280.hp1 HG00642.hp1 HG01192.hp2 HG02723.hp2 HG03704.hp1	a0002 a0008 a0002 a0008	a0002c0001 a0002c0093 a0008c0005 a0002c0001 a0002c0093 a0008c0005	a0002c0001t0002 a0002c0093t0004 a0008c0005t0002 a0002c0001t0002 a0002c0093t0004 a0008c0005t0002	a0002c0001t0002g0169 a0002c0001t0002g0184 a0002c0001t0002g0185 others(2): Show a0002c0001t0002g0169 a0002c0001t0002g0184 a0002c0001t0002g0185 a0002c0093t0004g0122 a0008c0005t0002g0187	5	366	0.0137	-180	c.-13 others(19): Show c.-136-4474_-136-4295del		TNC	ENSG00000041982.17	transcript	ENST00000350763.9	protein_coding	1/27						chr9	TogoVar
TRAPPC9_chr8_139722725_140462744	139748295	TCCTGGGG others(173): Show TCCTGGGGTCAGAGCAGGTGGGAGGTGTGCAGGGATCAGAGAAGATGCAG GGGGTACACACAGCAGGAGTCAGAGCAGGTAGGGGGGCGTACAGGGGTCA GAGCAGGTGTGGGGGCTGTGCAGGGGTCAGAGCAGGTGGGGAGGTGTGCA GGGATCAGAGAAGATGCAGGGGGTACACACA	T T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG03041.hp1 others(1): Show HG02895.hp2 HG02897.hp2 HG03041.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0008 a0001c0003t0005 a0001c0005t0008 a0001c0001t0008 a0001c0003t0005 a0001c0005t0008	a0001c0001t0008g0083 a0001c0003t0005g0013 a0001c0005t0008g0065 others(1): Show a0001c0001t0008g0083 a0001c0003t0005g0013 a0001c0005t0008g0065 a0001c0005t0008g0076	4	98	0.0408	-180	c.305 others(21): Show c.3056-16273_3056-16094del		TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	21/22						chr8	TogoVar
TTLL8_chr22_50013575_50063298	50043237	GGATAGAT others(173): Show GGATAGATAGATAAACAGTGGTGCCGAGACGTCCTTCGGTAGATGGATAG ATAGATAAACAGTGGTGCCGACATGTTCTTCGGTAGATGGATGGATAGAT AAACAGTGGTACCGAGACACCCTTCGGTAGATGGATAGATAAATAAACAG TGGTGCCGAGACGTCCTTCGGTAGATGGATA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03471.hp2 HG02717.hp1 HG03471.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0020 a0002c0002t0001g0153 a0002c0002t0001g0020 a0002c0002t0001g0153	2	224	0.0089	-180	c.752 others(17): Show c.752-1610_752-1431del		TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	8/13						chr22	TogoVar
TUBGCP2_chr10_133273635_133313872	133292101	CTCCGTGT others(173): Show CTCCGTGTCCCCCATGTCCCCCATGTCCCCGTGTCCCGGGGAGCCCTACC TGTACGGGAGAGGGCAGCATGCACACTCCGTGTCCCCCGTGTCCCTCCGT GTCCCCCATGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGC AGCATGCACACTCCGTGTCCCCCGTGTCCCT	C C	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA18995.hp2 NA19009.hp2 others(2): Show HG02523.hp1 NA18995.hp2 NA19009.hp2 NA19065.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0003 a0001c0006t0003 a0001c0002t0003 a0001c0006t0003	a0001c0002t0003g0032 a0001c0002t0003g0046 a0001c0002t0003g0055 others(2): Show a0001c0002t0003g0032 a0001c0002t0003g0046 a0001c0002t0003g0055 a0001c0002t0003g0068 a0001c0006t0003g0187	5	284	0.0176	-180	c.121 others(17): Show c.1214+218_1214+397del		TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17						chr10	TogoVar
TUBGCP2_chr10_133273635_133313872	133292186	CCCGTGTC others(173): Show CCCGTGTCCCTCCGTGTCCCCCATGTCCCCGTGTCCCGGGGAGCCCTACC TGTACGGGAGAGGGCAGCATGCACACTCCGTGTCCCCCGTGTCCCTCCGT GTCCCCCATGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGC AGCATGCACACTCCGTGTCCCCCGTGTCCCT	C C	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0010 a0010	a0010c0025 a0010c0025	a0010c0025t0001 a0010c0025t0001	a0010c0025t0001g0227 a0010c0025t0001g0227	1	284	0.0035	-180	c.121 others(17): Show c.1214+133_1214+312del		TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17						chr10	TogoVar
TYMS_chr18_652653_678578	666915	TGATGGAG others(173): Show TGATGGAGATGGTGATGGTGATGGAGATGGTGATGGTGATGGAGATGGAG ATGGTGATGGAGATGGAGATGGTGATGGTGATGGAGATGGTGATGGTGAT GGAGATGGAGATGGTGATGGAGATGGTGATGGTGATGGAGATGGAGATGG TGATGGTGATGGAGATGGTGATGGTGATGGA	T T	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01257.hp1 HG01361.hp2 others(6): Show HG01175.hp2 HG01257.hp1 HG01361.hp2 HG01934.hp1 HG01952.hp1 HG01993.hp2 HG02004.hp2 HG02148.hp1 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0216 a0001c0001t0002g0313 others(5): Show a0001c0001t0002g0024 a0001c0001t0002g0216 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318	9	482	0.0187	-180	c.455 others(17): Show c.455-2145_455-1966del		TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr18	TogoVar
UMODL1_chr21_42066317_42147996	42131398	ACAGGAGG others(173): Show ACAGGAGGAGGGAGGTCTCGGCCATGAAGCTGGGGAACAGGAGGAGGGAG GTCTCAGCCATGAAGCTGGGGAACAGGAGGAGGGAGGTCTCAGCCATGAA GCTGGGGAACAGGAGGAGGGAGGTCTCGGCCATGAAGCTGGGGAACAGGA GGAGGGAGGTCTCGGCCATGAAGCTGGGGAG	A A	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18998.hp1 NA19079.hp1 NA18953.hp2 NA18998.hp1 NA19079.hp1	a0006 a0006	a0006c0007 a0006c0038 a0006c0007 a0006c0038	a0006c0007t0004 a0006c0038t0001 a0006c0038t0038 a0006c0007t0004 a0006c0038t0001 a0006c0038t0038	a0006c0007t0004g0045 a0006c0038t0001g0237 a0006c0038t0038g0064 a0006c0007t0004g0045 a0006c0038t0001g0237 a0006c0038t0038g0064	3	400	0.0075	-180	c.377 others(19): Show c.3775+1655_3775+1834del		UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	21/22					INFO_REALIGN_3_PRIME	chr21	TogoVar
UNC5A_chr5_176805559_176885898	176859164	TCCTTGCT others(173): Show TCCTTGCTAGAGGGCATGGCTGCTAGAATGCCCTTGCTAGAGGGCATAGC TGCTAGAATGTCCTTGCTAGAGGGCATAGCTGCTAGAATGCCCTTGCTAG AGGGCATAGCTGCTACAATGTCCTTGCTAGAGGGCATGGCTGCTAGAATG CCCTTGCTAGAGGGCATAGCTGCTAGAATGC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01106.hp1 HG02300.hp2 others(1): Show HG01081.hp2 HG01106.hp1 HG02300.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0062 a0001c0001t0002g0063 others(1): Show a0001c0001t0002g0058 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0087	4	268	0.0149	-180	c.71- others(15): Show c.71-3370_71-3191del		UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr5	TogoVar
USP40_chr2_233470526_233571782	233567612	CTATATAA others(173): Show CTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGATTAT AGCTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGATT ATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGA TTATAGTTATATAACCTTATATAAGATTAGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0159 a0003c0003t0002g0159	1	324	0.0031	-180	c.-11 others(10): Show c.-1128_-949del		USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding					831		chr2	TogoVar
USP40_chr2_233470526_233571782	233567638	CTATATAA others(173): Show CTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGATTAT AGCTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGATT ATAGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGA TTAGTTATATAACCTTATATAAGATTATAGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG01975.hp1 NA18942.hp1 others(2): Show HG00609.hp1 HG01975.hp1 NA18942.hp1 NA19055.hp1 NA19065.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0003c0003t0002 a0001c0001t0001 a0001c0001t0002 a0003c0003t0002	a0001c0001t0001g0165 a0001c0001t0002g0166 a0003c0003t0002g0003 others(2): Show a0001c0001t0001g0165 a0001c0001t0002g0166 a0003c0003t0002g0003 a0003c0003t0002g0169 a0003c0003t0002g0285	5	324	0.0154	-180	c.-11 others(10): Show c.-1154_-975del		USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding					857		chr2	TogoVar
USP40_chr2_233470526_233571782	233567664	CTATATAA others(173): Show CTATATAACCTTATATAAGATTATAGCTATATAACCTTATATAAGATTAT AGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGATT ATAGTTATATAACCTTATATAAGATTAGTTATATAACCTTATATAAGATT ATAGTTATATAACCTTATATAAGATTATAGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0146 a0003c0003t0002g0146	1	324	0.0031	-180	c.-11 others(11): Show c.-1180_-1001del		USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding					883		chr2	TogoVar
USP40_chr2_233470526_233571782	233567690	CTATATAA others(173): Show CTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGATTAT AGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGATT AGTTATATAACCTTATATAAGATTATAGTTATATAACCTTATATAAGATT ATAGTTATATAACCTTATATAAGATTATAGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG03139.hp1 NA18966.hp1 others(1): Show HG00323.hp2 HG03139.hp1 NA18966.hp1 NA18972.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0003 a0004c0004 a0001c0001 a0003c0003 a0004c0004	a0001c0001t0001 a0003c0003t0002 a0004c0004t0003 a0001c0001t0001 a0003c0003t0002 a0004c0004t0003	a0001c0001t0001g0094 a0003c0003t0002g0164 a0004c0004t0003g0055 others(1): Show a0001c0001t0001g0094 a0003c0003t0002g0164 a0004c0004t0003g0055 a0004c0004t0003g0061	4	324	0.0124	-180	c.-12 others(11): Show c.-1206_-1027del		USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding					909		chr2	TogoVar
VCX3B_chrX_8459830_8471510	8466150	GTGGAAGA others(173): Show GTGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCA GGAGAGCGAGGTGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAAC CACTGAGTCAGGAGAGCGAGATGGAAGAACCACTGAGTCAGGAGAGCCAG GTGGAGGAACCACTGAGTCAGGAGAGCGAGA	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00408.hp2 HG00544.hp2 HG00639.hp1 others(26): Show HG00408.hp2 HG00544.hp2 HG00639.hp1 HG00733.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01109.hp1 HG01346.hp2 HG01433.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01978.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp1 HG02148.hp1 HG02148.hp2 HG02622.hp2 HG02922.hp2 NA18940.hp1 NA18949.hp2 NA18967.hp1 NA18974.hp1 NA18999.hp1 NA19010.hp1	a0000 a0004 a0009 others(5): Show a0000 a0004 a0009 a0030 a0032 a0059 a0061 a0079	a0000c0096 a0004c0004 a0004c0033 others(7): Show a0000c0096 a0004c0004 a0004c0033 a0009c0009 a0030c0076 a0030c0087 a0032c0035 a0059c0095 a0061c0073 a0079c0068	a0000c0096t0004 a0004c0004t0004 a0004c0004t0013 others(10): Show a0000c0096t0004 a0004c0004t0004 a0004c0004t0013 a0004c0033t0004 a0009c0009t0003 a0009c0009t0007 a0009c0009t0024 a0030c0076t0011 a0030c0087t0001 a0032c0035t0026 a0059c0095t0004 a0061c0073t0007 a0079c0068t0013	a0000c0096t0004g0002 a0004c0004t0004g0002 a0004c0004t0004g0020 others(11): Show a0000c0096t0004g0002 a0004c0004t0004g0002 a0004c0004t0004g0020 a0004c0004t0013g0002 a0004c0033t0004g0002 a0009c0009t0003g0044 a0009c0009t0007g0008 a0009c0009t0024g0008 a0030c0076t0011g0018 a0030c0087t0001g0001 a0032c0035t0026g0034 a0059c0095t0004g0049 a0061c0073t0007g0008 a0079c0068t0013g0002	29	271	0.1070	-180	c.535 others(7): Show c.535_714del	p.Gln others(13): Show p.Gln179_Ser238del	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding	3/3	842/1175	535/741	179/246		INFO_REALIGN_3_PRIME	chrX	TogoVar

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