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
NPIPB4_chr16_21829582_21862756	21834805	GTCACCGA others(80): Show GTCACCGACCCTCCGCCTCTTGGGTTCGGGTGATGATGGTTCCACGTCAG CGGCCCTCCGCCTCTTGGGTTTGCGTGACGGTTCCACA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01074.hp1 HG01175.hp2 HG01243.hp2 others(3): Show HG01074.hp1 HG01175.hp2 HG01243.hp2 HG03492.hp2 HG03927.hp2 HG04115.hp2	a0011 a0055 a0065 a0011 a0055 a0065	a0011c0012 a0055c0057 a0065c0054 a0011c0012 a0055c0057 a0065c0054	a0011c0012t0001 a0055c0057t0001 a0065c0054t0001 a0011c0012t0001 a0055c0057t0001 a0065c0054t0001	a0011c0012t0001g0100 a0011c0012t0001g0102 a0011c0012t0001g0103 others(3): Show a0011c0012t0001g0100 a0011c0012t0001g0102 a0011c0012t0001g0103 a0011c0012t0001g0168 a0055c0057t0001g0130 a0065c0054t0001g0165	6	204	0.0294	-87	c.349 others(96): Show c.3495_3581delTGTGGAACCGTCACGCAAACCCAAGAGGCGGAGGGC CGCTGACGTGGAACCATCATCACCCGAACCCAAGAGGCGGAGGGTCGGTG A	p.Val others(15): Show p.Val1166_Asp1194del	NPIPB4	ENSG00000185864.19	transcript	ENST00000682606.1	protein_coding	8/8	3796/4020	3495/3669	1165/1222			chr16	TogoVar
NPIPB5_chr16_22505891_22541535	22536267	CACCCGAA others(80): Show CACCCGAACCCAAGAGGCGGAGGGTCGGTGACGTGGAACCGTCACGCAAA CCCAAGAGGCGGAGGGCCGCTGACGTGGAACCATCATT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00621.hp1 HG00621.hp1	a0029 a0029	a0029c0003 a0029c0003	a0029c0003t0010 a0029c0003t0010	a0029c0003t0010g0043 a0029c0003t0010g0043	1	47	0.0213	-87	c.330 others(96): Show c.3307_3393delGTCGGTGACGTGGAACCGTCACGCAAACCCAAGAGG CGGAGGGCCGCTGACGTGGAACCATCATTACCCGAACCCAAGAGGCGGAG G	p.Val others(15): Show p.Val1103_Arg1131del	NPIPB5	ENSG00000243716.12	transcript	ENST00000424340.7	protein_coding	7/7	6218/6463	3307/3402	1103/1133		INFO_REALIGN_3_PRIME	chr16	TogoVar
NRIP3_chr11_8975576_9009001	8978624	GTGGGGGG others(80): Show GTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGG TGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCATC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp1 HG02155.hp2 HG02280.hp1 others(12): Show HG02080.hp1 HG02155.hp2 HG02280.hp1 HG02280.hp2 HG02738.hp2 NA18940.hp2 NA18943.hp1 NA18975.hp1 NA18979.hp2 NA18983.hp1 NA18994.hp1 NA19058.hp2 NA19080.hp2 NA19086.hp2 NA19087.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0003 a0001c0001t0004 a0001c0001t0015 others(3): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0015 a0001c0002t0003 a0001c0002t0026 a0003c0004t0028	a0001c0001t0003g0004 a0001c0001t0003g0013 a0001c0001t0003g0136 others(10): Show a0001c0001t0003g0004 a0001c0001t0003g0013 a0001c0001t0003g0136 a0001c0001t0003g0271 a0001c0001t0004g0230 a0001c0001t0015g0051 a0001c0001t0015g0267 a0001c0002t0003g0007 a0001c0002t0003g0031 a0001c0002t0003g0265 a0001c0002t0003g0279 a0001c0002t0026g0278 a0003c0004t0028g0052	15	406	0.0370	-87	c.48 others(98): Show c.4834_*4920delGATGGGGCGGCTGGCCGGGCGGAGGGCTGACCCC CCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCA		NRIP3	ENSG00000175352.12	transcript	ENST00000309166.8	protein_coding					1951		chr11	TogoVar
NSMF_chr9_137442570_137464334	137451123	ATCTCCCG others(80): Show ATCTCCCGCGCCACACGCCTCTTCCCCTTGTTCTGCCCTCCACGCCTCTT CCCCTTGGTCTTCCCCACCACACGCCTCTTCCCCTTGG	A A	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02698.hp1 NA18966.hp1 others(1): Show HG01070.hp2 HG02698.hp1 NA18966.hp1 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0070 a0001c0001t0001g0093 a0001c0001t0003g0129 others(1): Show a0001c0001t0001g0070 a0001c0001t0001g0093 a0001c0001t0003g0129 a0001c0001t0003g0135	4	414	0.0097	-87	c.123 others(104): Show c.1237-955_1237-869delCCAAGGGGAAGAGGCGTGTGGTGGGGAA GACCAAGGGGAAGAGGCGTGGAGGGCAGAACAAGGGGAAGAGGCGTGTGG CGCGGGAGA		NSMF	ENSG00000165802.23	transcript	ENST00000371475.9	protein_coding	12/15						chr9	TogoVar
NSRP1_chr17_30111816_30191475	30139098	TAGTAGAG others(80): Show TAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCAATCTCCTG ACCTCCTGATCCAACCGCCTCAGCCTCCCAAAGTGCTG	T T	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0137 a0001c0002t0001g0137	1	282	0.0036	-87	c.114 others(106): Show c.114+20926_114+21012delAGTAGAGACGGGGTTTCACTGTGTTA GCCAGGATGGTCTCAATCTCCTGACCTCCTGATCCAACCGCCTCAGCCTC CCAAAGTGCTG		NSRP1	ENSG00000126653.18	transcript	ENST00000247026.10	protein_coding	2/6						chr17	TogoVar
NTN4_chr12_95652807_95795764	95751177	TCAAACCC others(80): Show TCAAACCCCACAACAGGATTTAATTAACCTCGCCTTCAAGGTGTACAATA ATAGAAAAAAGTTGCAATTCCTTGCCTCCACTGTGAGA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02615.hp2 HG02622.hp1 others(7): Show HG02258.hp1 HG02615.hp2 HG02622.hp1 HG02886.hp2 HG02922.hp1 HG02965.hp1 HG03098.hp1 HG03579.hp1 HG03579.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0007 a0001c0001 a0001c0005 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0005t0002 a0001c0007t0001 a0001c0007t0005	a0001c0001t0001g0066 a0001c0001t0001g0231 a0001c0001t0002g0122 others(7): Show a0001c0001t0001g0066 a0001c0001t0001g0231 a0001c0001t0002g0122 a0001c0001t0004g0015 a0001c0001t0004g0016 a0001c0001t0005g0020 a0001c0005t0002g0226 a0001c0007t0001g0142 a0001c0007t0001g0214 a0001c0007t0005g0057	10	324	0.0309	-87	c.586 others(106): Show c.586-13120_586-13034delTCTCACAGTGGAGGCAAGGAATTGCA ACTTTTTTCTATTATTGTACACCTTGAAGGCGAGGTTAATTAAATCCTGT TGTGGGGTTTG		NTN4	ENSG00000074527.13	transcript	ENST00000343702.9	protein_coding	2/9						chr12	TogoVar
OR2T12_chr1_248285139_248308424	248306452	CCCCTGAG others(80): Show CCCCTGAGGACAGGAGCCGCCTGAGGACTGGAGCCCCCTGAGGACTGGAG CCGCCCTGAGGACTGGAGCCGCCTGAGGACTGGAGCCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0003 a0003c0003t0003g0003	1	406	0.0025	-87	c.-33 others(98): Show c.-3383_-3297delCGGCTCCAGTCCTCAGGCGGCTCCAGTCCTCAGG GCGGCTCCAGTCCTCAGGGGGCTCCAGTCCTCAGGCGGCTCCTGTCCTCA GGG		OR2T12	ENSG00000177201.3	transcript	ENST00000641276.1	protein_coding					3029		chr1	TogoVar
OR2V2_chr5_181142586_181164285	181160724	GTCACTGG others(80): Show GTCACTGGGGGTGGGGCCAGGACGAGCATCGTCACTGGGGGTGGGGCCAG GACGAGCATCGTCACTGGGGGTGGGGCCAGGACGAGCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00741.hp1 HG01074.hp1 others(21): Show HG00558.hp2 HG00741.hp1 HG01074.hp1 HG01256.hp2 HG01433.hp1 HG02040.hp2 HG03831.hp2 NA18944.hp2 NA18954.hp2 NA18955.hp2 NA18977.hp2 NA18981.hp2 NA18994.hp2 NA19002.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp2 NA19057.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19079.hp2 NA19082.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(10): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0013 a0001c0001t0017 a0001c0001t0024 a0001c0001t0030 a0001c0001t0064 a0001c0001t0065 a0001c0001t0069 a0001c0001t0070 a0001c0001t0085 a0002c0002t0001	a0001c0001t0002g0001 a0001c0001t0002g0064 a0001c0001t0003g0001 others(15): Show a0001c0001t0002g0001 a0001c0001t0002g0064 a0001c0001t0003g0001 a0001c0001t0007g0001 a0001c0001t0013g0004 a0001c0001t0013g0069 a0001c0001t0013g0073 a0001c0001t0017g0004 a0001c0001t0017g0068 a0001c0001t0024g0008 a0001c0001t0030g0004 a0001c0001t0030g0075 a0001c0001t0064g0074 a0001c0001t0065g0004 a0001c0001t0069g0004 a0001c0001t0070g0004 a0001c0001t0085g0051 a0002c0002t0001g0002	24	424	0.0566	-87	c.48 others(98): Show c.4835_*4921delTCACTGGGGGTGGGGCCAGGACGAGCATCGTCAC TGGGGGTGGGGCCAGGACGAGCATCGTCACTGGGGGTGGGGCCAGGACGA GCA		OR2V2	ENSG00000182613.3	transcript	ENST00000641492.1	protein_coding					1440		chr5	TogoVar
OR2V2_chr5_181142586_181164285	181160754	GTCACTGG others(80): Show GTCACTGGGGGTGGGGCCAGGACGAGCATCGTCACTGGGGGTGGGGCCAG GACGAGCATCGTCACTGGGGGTGGGGCCAGGACGAGCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0080 a0001c0001t0022g0080	1	424	0.0024	-87	c.48 others(98): Show c.4865_*4951delTCACTGGGGGTGGGGCCAGGACGAGCATCGTCAC TGGGGGTGGGGCCAGGACGAGCATCGTCACTGGGGGTGGGGCCAGGACGA GCA		OR2V2	ENSG00000182613.3	transcript	ENST00000641492.1	protein_coding					1470		chr5	TogoVar
OR6J1_chr14_22625929_22649352	22636282	CTCTCCCT others(80): Show CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT	C C	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	362	0.0028	-87	c.-27 others(104): Show c.-27-1531_-27-1445delAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGA		OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1						chr14	TogoVar
OTUD7A_chr15_31470398_31875673	31511191	CACATATG others(80): Show CACATATGTATATCTATATGTAACACACATACATATGTATATCTATATGT AACACACATACATATGTATATCTATATGTAACACACAT	C C	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0069 a0002c0003t0003g0069	1	244	0.0041	-87	c.894 others(104): Show c.894-7460_894-7374delATGTGTGTTACATATAGATATACATATG TATGTGTGTTACATATAGATATACATATGTATGTGTGTTACATATAGATA TACATATGT		OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12						chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31511392	TATATATG others(80): Show TATATATGTATATCTATATGTAACACACACATATATGTATATCTATATGT AACACACACATATATGTATATCTATATGTAACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03041.hp1 HG02280.hp2 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0009 a0001c0002 a0001c0009	a0001c0002t0021 a0001c0009t0019 a0001c0002t0021 a0001c0009t0019	a0001c0002t0021g0200 a0001c0009t0019g0074 a0001c0002t0021g0200 a0001c0009t0019g0074	2	244	0.0082	-87	c.894 others(104): Show c.894-7661_894-7575delGTGTGTGTTACATATAGATATACATATA TGTGTGTGTTACATATAGATATACATATATGTGTGTGTTACATATAGATA TACATATAT		OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12						chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31511624	CATATATG others(80): Show CATATATGTATATCTATATGTAACACACACATATATGTATATCTATATGT AACACACACATATATGTATATCTATATGTAACACACAT	C C	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0008 a0002c0007t0008	a0002c0007t0008g0042 a0002c0007t0008g0042	1	244	0.0041	-87	c.894 others(104): Show c.894-7893_894-7807delATGTGTGTTACATATAGATATACATATA TGTGTGTGTTACATATAGATATACATATATGTGTGTGTTACATATAGATA TACATATAT		OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12						chr15	TogoVar
OTUD7A_chr15_31470398_31875673	31511653	CATATATG others(80): Show CATATATGTATATCTATATGTAACACACACATATATGTATATCTATATGT AACACACATATATATGTATATCTATATGTAACACACAT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0094 a0001c0002t0022g0094	1	244	0.0041	-87	c.894 others(104): Show c.894-7922_894-7836delATGTGTGTTACATATAGATATACATATA TATGTGTGTTACATATAGATATACATATATGTGTGTGTTACATATAGATA TACATATAT		OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12						chr15	TogoVar
OXSR1_chr3_38160537_38260484	38162011	ATTTCATA others(80): Show ATTTCATATATTATGTATATTTCATATACATATTTCATATATTATGTAAT TTCATATACATATTTCATATATTATGTATATTTCATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01891.hp2 others(6): Show HG01167.hp1 HG01169.hp2 HG01891.hp2 HG02622.hp1 HG02976.hp1 HG03225.hp1 HG03540.hp2 NA18522.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0200 a0002c0002t0002g0203 a0002c0002t0002g0204 others(6): Show a0002c0002t0002g0200 a0002c0002t0002g0203 a0002c0002t0002g0204 a0002c0002t0002g0206 a0002c0002t0002g0208 a0002c0002t0002g0209 a0002c0002t0002g0210 a0002c0002t0002g0211 a0002c0002t0002g0236	9	248	0.0363	-87	c.-38 others(98): Show c.-3865_-3779delTTTCATATATTATGTATATTTCATATACATATTT CATATATTATGTAATTTCATATACATATTTCATATATTATGTATATTTCA TAT		OXSR1	ENSG00000172939.9	transcript	ENST00000311806.8	protein_coding					3525		chr3	TogoVar
PDZRN4_chr12_41183320_41579745	41402132	TATATATA others(80): Show TATATATATACACACACTGAGTATATATATATATATACACACTGAGTATA TATATATATACACACACACTGAGTATACATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03471.hp1 HG02451.hp1 HG03471.hp1	a0001 a0013 a0001 a0013	a0001c0032 a0013c0062 a0001c0032 a0013c0062	a0001c0032t0007 a0013c0062t0001 a0001c0032t0007 a0013c0062t0001	a0001c0032t0007g0206 a0013c0062t0001g0202 a0001c0032t0007g0206 a0013c0062t0001g0202	2	206	0.0097	-87	c.844 others(108): Show c.844-104322_844-104236delTATATATACACACACTGAGTATAT ATATATATATACACACTGAGTATATATATATATACACACACACTGAGTAT ACATATATATACA		PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
PEX5_chr12_7184686_7216459	7197165	AATGTAAT others(80): Show AATGTAATTATATATGTCATATATAATGTAATTATATATGTCATATATAA TGTAATTATATATGTCATATGTAATAATTATATGTCAT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp2 HG02630.hp1 others(4): Show HG02109.hp2 HG02145.hp2 HG02630.hp1 HG02723.hp2 HG02965.hp2 HG03225.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0004 a0001c0001t0008g0226 a0001c0001t0008g0004 a0001c0001t0008g0226	7	428	0.0164	-87	c.449 others(104): Show c.449-1838_449-1752delTATATATGTCATATATAATGTAATTATA TATGTCATATATAATGTAATTATATATGTCATATGTAATAATTATATGTC ATATGTAAT		PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
PITPNA_chr17_1512718_1567792	1551930	GCTGCTCT others(80): Show GCTGCTCTCCTCGCACCCCGGTACTGAGGTCCTGGACCCTCTGGCGAGGA GACTGGGTGATGGTGAGGTTCCTCCCCACTGCACAGCA	G G	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA19077.hp2 NA18951.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0074 a0001c0001t0001g0056 a0001c0001t0001g0074	2	368	0.0054	-87	c.197 others(103): Show c.197+987_197+1073delTGCTGTGCAGTGGGGAGGAACCTCACCAT CACCCAGTCTCCTCGCCAGAGGGTCCAGGACCTCAGTACCGGGGTGCGAG GAGAGCAG		PITPNA	ENSG00000174238.16	transcript	ENST00000313486.12	protein_coding	3/11						chr17	TogoVar
PKP3_chr11_389209_409908	398430	GTCACCTC others(80): Show GTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCAC ACACCTCTGTCACCTCCCTACCCCCGCACACACCTGCA	G G	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0180 a0001c0004t0001g0180	1	216	0.0046	-87	c.106 others(104): Show c.1069-553_1069-467delCTACCCCCGCACACACCTGCGTCACCTC CGTACCCCCGCACACACCTCTGTCACCTCCCTACCCCCGCACACACCTGC ATCACCTCC		PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12					INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	398439	CTACCCCC others(80): Show CTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTCTG TCACCTCCCTACCCCCGCACACACCTGCATCACCTCCG	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01943.hp1 HG02717.hp2 HG01891.hp1 HG01943.hp1 HG02717.hp2	a0001 a0010 a0001 a0010	a0001c0002 a0001c0004 a0010c0033 a0001c0002 a0001c0004 a0010c0033	a0001c0002t0001 a0001c0004t0001 a0010c0033t0001 a0001c0002t0001 a0001c0004t0001 a0010c0033t0001	a0001c0002t0001g0125 a0001c0004t0001g0201 a0010c0033t0001g0124 a0001c0002t0001g0125 a0001c0004t0001g0201 a0010c0033t0001g0124	3	216	0.0139	-87	c.106 others(104): Show c.1069-506_1069-420delCTGTCACCTCCCTACCCCCGCACACACC TGCATCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCG CACACACCT		PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12					INFO_REALIGN_3_PRIME	chr11	TogoVar
PLCB3_chr11_64246530_64272923	64270898	GAGACACA others(80): Show GAGACACACACACACACACACACACACACACACACGCCTGGAGTGGGATC TAGACTACAGATCCCAGCATGCCCTGTGACACACACAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0002 a0001c0003t0001g0002	1	382	0.0026	-87	c.33 others(98): Show c.3343_*3429delAGACACACACACACACACACACACACACACACAC GCCTGGAGTGGGATCTAGACTACAGATCCCAGCATGCCCTGTGACACACA CAC		PLCB3	ENSG00000149782.13	transcript	ENST00000279230.12	protein_coding					2976		chr11	TogoVar
PLCL1_chr2_197799593_198154863	197866108	CTATATAT others(80): Show CTATATATATATATAAACTATATATATATATAAACTATATATATATATAA ACTATATATATATATAAACTATATATATATATAAACTA	C C	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0084 a0002c0002t0001g0084	1	204	0.0049	-87	c.240 others(106): Show c.240+60784_240+60870delAACTATATATATATATAAACTATATA TATATATAAACTATATATATATATAAACTATATATATATATAAACTATAT ATATATATATA		PLCL1	ENSG00000115896.17	transcript	ENST00000428675.6	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr2	TogoVar
PLCXD1_chrX_276381_308356	287468	TATACTAT others(80): Show TATACTATATATGTTTATATATAGATATAGATACTATATATGTTTATATA TAGATATAGATACTATATATGTTTATATATAGATATAG	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02280.hp1 HG02622.hp1 others(4): Show HG01891.hp2 HG02280.hp1 HG02622.hp1 HG02622.hp2 HG03195.hp1 HG03486.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0018 a0001c0001t0086 a0001c0003t0054 others(3): Show a0001c0001t0018 a0001c0001t0086 a0001c0003t0054 a0001c0003t0056 a0001c0003t0058 a0001c0003t0104	a0001c0001t0018g0099 a0001c0001t0018g0100 a0001c0001t0086g0061 others(4): Show a0001c0001t0018g0099 a0001c0001t0018g0100 a0001c0001t0086g0061 a0001c0003t0054g0094 a0001c0003t0056g0092 a0001c0003t0058g0103 a0001c0003t0104g0093	7	176	0.0398	-87	c.128 others(104): Show c.128-1160_128-1074delATATAGATATAGATACTATATATGTTTA TATATAGATATAGATACTATATATGTTTATATATAGATATAGATACTATA TATGTTTAT		PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	2/6					INFO_REALIGN_3_PRIME	chrX	TogoVar
PLGLB2_chr2_87743087_87764476	87753731	GAAGGCGC others(80): Show GAAGGCGCTATGGTGTTGTAAAATTGAATTCTGAGTTAGGACAGGATTTG ATTACTAACTAACCATGTCAGCTTGAGTATATTACTTC	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02818.hp1 HG02109.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	2	313	0.0064	-87	c.1+ others(99): Show c.1+99_*1+185delAGGCGCTATGGTGTTGTAAAATTGAATTCTGAG TTAGGACAGGATTTGATTACTAACTAACCATGTCAGCTTGAGTATATTAC TTCA		PLGLB2	ENSG00000125551.19	transcript	ENST00000359481.9	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr2	TogoVar
PPP2R5C_chr14_101756709_101932977	101885451	TCCCTCTG others(80): Show TCCCTCTGCAGTCATTAGGGCCCACAGCCCCGGCCTCTCCCATCCCGTGC CGGCTTGCACAGCCTGCGTCAGGAGCACCCTGCCTTTC	T T	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0018 a0001c0003t0018	a0001c0003t0018g0089 a0001c0003t0018g0089	1	138	0.0073	-87	c.794 others(104): Show c.794+1904_794+1990delTAGGGCCCACAGCCCCGGCCTCTCCCAT CCCGTGCCGGCTTGCACAGCCTGCGTCAGGAGCACCCTGCCTTTCCCCTC TGCAGTCAT		PPP2R5C	ENSG00000078304.20	transcript	ENST00000694906.1	protein_coding	7/15					INFO_REALIGN_3_PRIME	chr14	TogoVar
PRDM15_chr21_41793225_41884344	41806033	TCACCACC others(80): Show TCACCACCACCATCACCACCACCACCATCACCATCACCACCACCATCACC ACCACCACCATCACCACCACCATCACCACCACCACCAC	T T	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0017 a0001c0006t0017	a0001c0006t0017g0136 a0001c0006t0017g0136	1	406	0.0025	-87	c.265 others(106): Show c.2653-1506_2653-1420delGTGGTGGTGGTGGTGATGGTGGTGGT GATGGTGGTGGTGGTGATGGTGGTGGTGATGGTGATGGTGGTGGTGGTGA TGGTGGTGGTG		PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	21/23						chr21	TogoVar
PRKCZ_chr1_2045411_2190395	2122825	TCGTGGCG others(80): Show TCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTC ACGGTGGTGGTTAGGGTCACGGTGGTAGTTAGGGTCAC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0021 a0001c0003t0002g0021	1	286	0.0035	-87	c.335 others(106): Show c.335-12436_335-12350delCGTGGCGGTGGTTAGGGTTGTGGTGG TTAGGGTTGTGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCACGGTGGTA GTTAGGGTCAC		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17						chr1	TogoVar
PRKX_chrX_3599340_3718649	3639458	GGGGTGGA others(80): Show GGGGTGGATGGATGAAGGGGTAGGGGGTGGGGGAGTGGGTACATGGATGG ATGAAGGAGTGGGTGGGTGGATGGATGACGGGGTGGGT	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00738.hp1 HG01496.hp1 others(3): Show HG00735.hp1 HG00738.hp1 HG01496.hp1 HG02735.hp1 HG03491.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004	a0001c0001t0022 a0001c0002t0015 a0002c0003t0011 others(3): Show a0001c0001t0022 a0001c0002t0015 a0002c0003t0011 a0002c0003t0116 a0002c0003t0127 a0002c0004t0128	a0001c0001t0022g0154 a0001c0002t0015g0120 a0002c0003t0011g0216 others(3): Show a0001c0001t0022g0154 a0001c0002t0015g0120 a0002c0003t0011g0216 a0002c0003t0116g0195 a0002c0003t0127g0185 a0002c0004t0128g0200	6	227	0.0264	-87	c.719 others(104): Show c.719+2307_719+2393delACCCACCCCGTCATCCATCCACCCACCC ACTCCTTCATCCATCCATGTACCCACTCCCCCACCCCCTACCCCTTCATC CATCCACCC		PRKX	ENSG00000183943.6	transcript	ENST00000262848.6	protein_coding	4/8						chrX	TogoVar
PRUNE2_chr9_76606376_76911114	76791208	TATACTGC others(80): Show TATACTGCACCAATTATCATTGGTACAATAATACTGCACCAATTATCATT GGTACAATAATACTGCACCAATTATCATTGGTACAATA	T T	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02027.hp2 HG02155.hp2 others(3): Show HG00597.hp1 HG02027.hp2 HG02155.hp2 HG02523.hp1 NA18943.hp2 NA19030.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0028 a0002c0002 others(1): Show a0001c0001 a0001c0028 a0002c0002 a0006c0009	a0001c0001t0007 a0001c0001t0030 a0001c0028t0007 others(2): Show a0001c0001t0007 a0001c0001t0030 a0001c0028t0007 a0002c0002t0001 a0006c0009t0009	a0001c0001t0007g0213 a0001c0001t0007g0228 a0001c0001t0030g0082 others(3): Show a0001c0001t0007g0213 a0001c0001t0007g0228 a0001c0001t0030g0082 a0001c0028t0007g0053 a0002c0002t0001g0081 a0006c0009t0009g0033	6	240	0.0250	-87	c.756 others(106): Show c.756+32337_756+32423delTATTGTACCAATGATAATTGGTGCAG TATTATTGTACCAATGATAATTGGTGCAGTATTATTGTACCAATGATAAT TGGTGCAGTAT		PRUNE2	ENSG00000106772.19	transcript	ENST00000376718.8	protein_coding	6/18						chr9	TogoVar
RAB7A_chr3_128721183_128819798	128773436	CCCGCCCG others(80): Show CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTCAGCCCCCG CCCAGCAAGCCGACCCGTCCGGGAGGTGGGGGGCACCT	C C	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	314	0.0032	-87	c.-8- others(104): Show c.-8-21922_-8-21836delCGCCCGGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGTCAGCCCCCGCCCAGCAAGCCGACCCGTCCGGGAGGTGGG GGGCACCTC		RAB7A	ENSG00000075785.14	transcript	ENST00000265062.8	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr3	TogoVar
RBFOX3_chr17_79084345_79616051	79484476	GGGGGCCT others(80): Show GGGGGCCTGGGTGCAGGGGCCTGGGTGCAGGGGGCCTGGGTGCAGGGGGC CTGGGTGCAGGGGCCTGGGTGCAGGGGGCCTGGGTGCA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02258.hp1 HG02145.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0152 a0001c0001t0006g0125 a0001c0001t0004g0152 a0001c0001t0006g0125	2	154	0.0130	-87	c.-31 others(106): Show c.-319-1965_-319-1879delTGCACCCAGGCCCCCTGCACCCAGGC CCCTGCACCCAGGCCCCCTGCACCCAGGCCCCCTGCACCCAGGCCCCTGC ACCCAGGCCCC		RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14						chr17	TogoVar
RFX2_chr19_5988164_6115500	6024716	AGTGAGGA others(80): Show AGTGAGGACGGGAGTGAGGACGGGATCACGGTGAGGACGGGAGTGAGGAC GGGATCACGGTGAGGACGGGAGTGAGGACGGGATCACG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01884.hp2 HG01891.hp2 others(13): Show HG00741.hp2 HG01884.hp2 HG01891.hp2 HG02027.hp1 HG02155.hp1 HG02896.hp2 HG03041.hp2 HG03209.hp2 NA18612.hp1 NA18953.hp1 NA18973.hp2 NA18983.hp2 NA19000.hp1 NA19066.hp2 NA19077.hp1 NA19085.hp2	a0001 a0003 a0009 a0001 a0003 a0009	a0001c0001 a0001c0004 a0003c0005 others(1): Show a0001c0001 a0001c0004 a0003c0005 a0009c0010	a0001c0001t0001 a0001c0004t0001 a0003c0005t0001 others(2): Show a0001c0001t0001 a0001c0004t0001 a0003c0005t0001 a0003c0005t0003 a0009c0010t0001	a0001c0001t0001g0240 a0001c0001t0001g0252 a0001c0001t0001g0254 others(13): Show a0001c0001t0001g0240 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0004t0001g0292 a0001c0004t0001g0293 a0001c0004t0001g0294 a0003c0005t0001g0045 a0003c0005t0001g0046 a0003c0005t0001g0048 a0003c0005t0001g0049 a0003c0005t0001g0050 a0003c0005t0001g0051 a0003c0005t0001g0052 a0003c0005t0001g0197 a0003c0005t0003g0020 a0009c0010t0001g0047	16	308	0.0520	-87	c.597 others(104): Show c.597+1360_597+1446delCGTGATCCCGTCCTCACTCCCGTCCTCA CCGTGATCCCGTCCTCACTCCCGTCCTCACCGTGATCCCGTCCTCACTCC CGTCCTCAC		RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	6/17						chr19	TogoVar
RGPD2_chr2_87750960_87830796	87753731	GAAGGCGC others(80): Show GAAGGCGCTATGGTGTTGTAAAATTGAATTCTGAGTTAGGACAGGATTTG ATTACTAACTAACCATGTCAGCTTGAGTATATTACTTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	176	0.0057	-87	c.35 others(98): Show c.3574_*3660delGAAGTAATATACTCAAGCTGACATGGTTAGTTAG TAATCAAATCCTGTCCTAACTCAGAATTCAATTTTACAACACCATAGCGC CTT		RGPD2	ENSG00000185304.16	transcript	ENST00000398146.5	protein_coding					2228		chr2	TogoVar
RNF139_chr8_124469880_124493618	124483026	TAAATATA others(80): Show TAAATATATATATATTTAAAAATATATCTATTAAAAATATATATATATTA TTTAAATATATATATATTTAAAAATATATATATTAAAA	T T	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0175 a0001c0002t0002g0175	1	408	0.0025	-87	c.182 others(104): Show c.182-2803_182-2717delAATATATATATATTTAAAAATATATCTA TTAAAAATATATATATATTATTTAAATATATATATATTTAAAAATATATA TATTAAAAA		RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr8	TogoVar
RNF149_chr2_101270601_101313701	101303643	CATACCTC others(80): Show CATACCTCTTTGTAACCTCCCCTGGAGAGTTCAGGGATTTCTTTTTTAAT TTTATTCTTATACCTCTTATCAATAGGAGGGATTTCTT	C C	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0213 a0002c0002t0003g0213	1	378	0.0027	-87	c.460 others(104): Show c.460+4399_460+4485delAAGAAATCCCTCCTATTGATAAGAGGTA TAAGAATAAAATTAAAAAAGAAATCCCTGAACTCTCCAGGGGAGGTTACA AAGAGGTAT		RNF149	ENSG00000163162.9	transcript	ENST00000295317.4	protein_coding	1/6						chr2	TogoVar
RNF149_chr2_101270601_101313701	101303710	TATCAATA others(80): Show TATCAATAGGAGGGATTTCTTATACCTCTTTGTAACCTCCCCTGGAGAGT TCAGGGATTTCTTTTTTAATTTTATTCTTATACCTCTA	T T	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0188 a0002c0002t0001g0188	1	378	0.0027	-87	c.460 others(104): Show c.460+4332_460+4418delTAGAGGTATAAGAATAAAATTAAAAAAG AAATCCCTGAACTCTCCAGGGGAGGTTACAAAGAGGTATAAGAAATCCCT CCTATTGAT		RNF149	ENSG00000163162.9	transcript	ENST00000295317.4	protein_coding	1/6						chr2	TogoVar
RNF213_chr17_80255852_80403794	80260507	CGCGGGGC others(80): Show CGCGGGGCCGGCGGCGGCGGCGGGCAGGGCGGGGCCGGCGGCGGCGGCGG CGGGCAGGGCGGGGCCGGCGGCGGCGGCGGCGGGCAGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp1 NA18979.hp1 HG03688.hp1 NA18979.hp1	a0001 a0045 a0001 a0045	a0001c0053 a0045c0096 a0001c0053 a0045c0096	a0001c0053t0029 a0045c0096t0010 a0001c0053t0029 a0045c0096t0010	a0001c0053t0029g0205 a0045c0096t0010g0203 a0001c0053t0029g0205 a0045c0096t0010g0203	2	292	0.0069	-87	c.-50 others(96): Show c.-503_-417delGCGGGGCCGGCGGCGGCGGCGGGCAGGGCGGGGCCG GCGGCGGCGGCGGCGGGCAGGGCGGGGCCGGCGGCGGCGGCGGCGGGCAG G		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding					344		chr17	TogoVar
RNF213_chr17_80255852_80403794	80312392	AGCATGAT others(80): Show AGCATGATGGGAGCACAGTGGGAAGGGGACCCAGGTTTACCTCCGGGTCA GGAGCCTGGCTGTGGTCTGGCATGGAGGCAGGGGGAGG	A A	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0076 a0001c0076	a0001c0076t0011 a0001c0076t0011	a0001c0076t0011g0216 a0001c0076t0011g0216	1	292	0.0034	-87	c.265 others(104): Show c.2656-470_2656-384delGGTCTGGCATGGAGGCAGGGGGAGGGCA TGATGGGAGCACAGTGGGAAGGGGACCCAGGTTTACCTCCGGGTCAGGAG CCTGGCTGT		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	14/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80313974	CTGGAGGT others(80): Show CTGGAGGTGATGGTGGTGGTGAAGGTGATGGTGGAGGTAATGGAGGTGAT GGTGGTGGTGGTGGTGATGGTGGAGGTGGTGGAGGTAA	C C	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0155 a0002c0002t0004g0155	1	292	0.0034	-87	c.281 others(104): Show c.2811+828_2811+914delAAGGTGATGGTGGAGGTAATGGAGGTGA TGGTGGTGGTGGTGGTGATGGTGGAGGTGGTGGAGGTAATGGAGGTGATG GTGGTGGTG		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80314941	AGGTACTG others(80): Show AGGTACTGGAGGTGATGGTGGTCGTGTAGGTGATGGTGGAGGTGATGGTG GTGGTGAAGGTGATGGTGGAGGTACTGGAGGTGATGGT	A A	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0043 a0043	a0043c0101 a0043c0101	a0043c0101t0003 a0043c0101t0003	a0043c0101t0003g0061 a0043c0101t0003g0061	1	292	0.0034	-87	c.281 others(106): Show c.2811+1778_2811+1864delACTGGAGGTGATGGTGGTCGTGTAGG TGATGGTGGAGGTGATGGTGGTGGTGAAGGTGATGGTGGAGGTACTGGAG GTGATGGTGGT		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80314988	GTGGTGGT others(80): Show GTGGTGGTGAAGGTGATGGTGGAGGTACTGGAGGTGATGGTGGTGGTGAA GGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0161 a0001c0006t0005g0161	1	292	0.0034	-87	c.281 others(106): Show c.2811+1822_2811+1908delTGGTGGTGAAGGTGATGGTGGAGGTA CTGGAGGTGATGGTGGTGGTGAAGGTGATGGTGGAGGTAATGGAGGTGAT GGTGGTGGTGA		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67						chr17	TogoVar
RPH3AL_chr17_207389_357807	242780	ACCTTCCT others(80): Show ACCTTCCTCTAATGACTACCTTCCTCTATTGATTACCTTCCTCTATTGAT TACCCTTCCTCTATTGATTACCTTCCTCTATTGATTAC	A A	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0058 a0001c0001t0037g0058	1	133	0.0075	-87	c.613 others(104): Show c.613+4244_613+4330delGTAATCAATAGAGGAAGGTAATCAATAG AGGAAGGGTAATCAATAGAGGAAGGTAATCAATAGAGGAAGGTAGTCATT AGAGGAAGG		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9						chr17	TogoVar
RPL37_chr5_40820262_40840222	40820963	AGCTGGGG others(80): Show AGCTGGGGCTACAAGTATGTGCTATGATGCCTGGCTAAATTTTGTATTTT TTGTGGAGATGGGGTTTCGCCATGTTGTCCAGGCTGGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0012 a0001c0001t0011g0012	1	440	0.0023	-87	c.11 others(100): Show c.11454_*11540delACCAGCCTGGACAACATGGCGAAACCCCATCT CCACAAAAAATACAAAATTTAGCCAGGCATCATAGCACATACTTGTAGCC CCAGC		RPL37	ENSG00000145592.14	transcript	ENST00000274242.10	protein_coding					4298		chr5	TogoVar
RPS6KA3_chrX_20144911_20271909	20220461	CGCCTAAC others(80): Show CGCCTAACACAGAATGGCAGTCTGAACATGAGGTGGCTCTTGAGACTATG TCAGGAAAAAGCATCATCTTTACTGCACAACTCATGAA	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02630.hp1 HG02922.hp1 others(3): Show HG01106.hp1 HG02630.hp1 HG02922.hp1 HG03195.hp2 HG03453.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0006 a0001c0002t0016 a0001c0004t0015 a0001c0002t0006 a0001c0002t0016 a0001c0004t0015	a0001c0002t0006g0018 a0001c0002t0006g0020 a0001c0002t0006g0021 others(3): Show a0001c0002t0006g0018 a0001c0002t0006g0020 a0001c0002t0006g0021 a0001c0002t0006g0037 a0001c0002t0016g0036 a0001c0004t0015g0019	6	212	0.0283	-87	c.127 others(106): Show c.127-11144_127-11058delTTCATGAGTTGTGCAGTAAAGATGAT GCTTTTTCCTGACATAGTCTCAAGAGCCACCTCATGTTCAGACTGCCATT CTGTGTTAGGC		RPS6KA3	ENSG00000177189.14	transcript	ENST00000379565.9	protein_coding	2/21						chrX	TogoVar
RPTOR_chr17_80539838_80971368	80960730	TGGGCACT others(80): Show TGGGCACTGCCTCCACTGAGCACCCCTGTGGGCAGGTGCTGTCCATGTCT GGCAGGGGACAGGGCACACGCGTGGGCACAGCAGCCCC	T T	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0054 a0001c0054	a0001c0054t0034 a0001c0054t0034	a0001c0054t0034g0056 a0001c0054t0034g0056	1	196	0.0051	-87	c.360 others(104): Show c.3605+538_3606-565delCACTGAGCACCCCTGTGGGCAGGTGCTG TCCATGTCTGGCAGGGGACAGGGCACACGCGTGGGCACAGCAGCCCCGGG CACTGCCTC		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	30/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80960744	ACTGAGCA others(80): Show ACTGAGCACCCCTGTGGGCAGGTGCTGTCCATGTCTGGCAGGGGACAGGG CACACGCGTGGGCACAGCAGCCCCGGGCACTGCCTCTG	A A	intron_variant intron_variant	MODIFIER	HG01258.hp2 NA20805.hp2 HG01258.hp2 NA20805.hp2	a0001 a0001	a0001c0032 a0001c0033 a0001c0032 a0001c0033	a0001c0032t0097 a0001c0033t0098 a0001c0032t0097 a0001c0033t0098	a0001c0032t0097g0053 a0001c0033t0098g0026 a0001c0032t0097g0053 a0001c0033t0098g0026	2	196	0.0102	-87	c.360 others(104): Show c.3605+551_3606-552delTGTGGGCAGGTGCTGTCCATGTCTGGCA GGGGACAGGGCACACGCGTGGGCACAGCAGCCCCGGGCACTGCCTCTGCT GAGCACCCC		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	30/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RYR1_chr19_38428691_38592564	38540324	AAATCATA others(80): Show AAATCATATACTACAGTATAATAAACCTCCAATCATATACTACAGTATAA TAAACCTCCAATCATATACTACAGTATAATAAACCTCC	A A	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0001 a0001c0023t0001	a0001c0023t0001g0110 a0001c0023t0001g0110	1	218	0.0046	-87	c.116 others(108): Show c.11689+2468_11689+2554delATAATAAACCTCCAATCATATACT ACAGTATAATAAACCTCCAATCATATACTACAGTATAATAAACCTCCAAT CATATACTACAGT		RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	84/105					INFO_REALIGN_3_PRIME	chr19	TogoVar
RYR1_chr19_38428691_38592564	38540494	CCTCCAAT others(80): Show CCTCCAATCATATACTACAGTGTAATAAACCTCCAATCATATACTACAGT GTAATAAACCTCCAATCATATACTACAGTGTAATAAAT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA19043.hp1 HG02630.hp1 NA19043.hp1	a0004 a0017 a0004 a0017	a0004c0115 a0017c0041 a0004c0115 a0017c0041	a0004c0115t0004 a0017c0041t0001 a0004c0115t0004 a0017c0041t0001	a0004c0115t0004g0216 a0017c0041t0001g0117 a0004c0115t0004g0216 a0017c0041t0001g0117	2	218	0.0092	-87	c.116 others(108): Show c.11689+2621_11690-2680delTCTCCAATCATATACTACAGTGTA ATAAACCTCCAATCATATACTACAGTGTAATAAACCTCCAATCATATACT ACAGTGTAATAAA		RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	84/105					INFO_REALIGN_3_PRIME	chr19	TogoVar
SAMD11_chr1_918923_949574	934178	GGGAGGCG others(80): Show GGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTCCGTTACAGGT GGGCAGGGGAGGCGGCTCCGTTACAGGTGGGCAGGGGA	G G	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01358.hp1 HG01496.hp2 others(4): Show HG01255.hp2 HG01358.hp1 HG01496.hp2 HG01981.hp2 HG02004.hp1 HG02273.hp1 NA19010.hp2	a0002 a0014 a0002 a0014	a0002c0003 a0014c0027 a0002c0003 a0014c0027	a0002c0003t0004 a0002c0003t0024 a0014c0027t0004 a0002c0003t0004 a0002c0003t0024 a0014c0027t0004	a0002c0003t0004g0011 a0002c0003t0004g0022 a0002c0003t0024g0233 others(1): Show a0002c0003t0004g0011 a0002c0003t0004g0022 a0002c0003t0024g0233 a0014c0027t0004g0232	7	434	0.0161	-87	c.843 others(104): Show c.843-1591_843-1505delAGGCGGCTGCGTTACAGGTGGGCAGGGG AGGCGGCTCCGTTACAGGTGGGCAGGGGAGGCGGCTCCGTTACAGGTGGG CAGGGGAGG		SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
SATL1_chrX_85087284_85248779	85227573	TCTGAATG others(80): Show TCTGAATGAGGAATTACAGAGAACAGAAGAACATGTTGAAAGTCACCAAG GGGATGCAATCGCAAAATACAGACTGTGGGGGACTCTA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01168.hp1 HG01934.hp1 others(25): Show HG00280.hp1 HG01168.hp1 HG01934.hp1 HG02055.hp1 HG02080.hp2 HG02109.hp1 HG02145.hp1 HG02451.hp1 HG02559.hp2 HG02723.hp1 HG03669.hp1 HG03834.hp2 HG03942.hp1 NA18941.hp1 NA18950.hp1 NA18960.hp1 NA18984.hp1 NA18987.hp2 NA18989.hp1 NA19000.hp1 NA19001.hp2 NA19005.hp1 NA19060.hp1 NA19063.hp1 NA19076.hp1 NA19077.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0002c0002 a0004c0004 others(1): Show a0001c0001 a0002c0002 a0004c0004 a0005c0005	a0001c0001t0002 a0001c0001t0004 a0002c0002t0002 others(2): Show a0001c0001t0002 a0001c0001t0004 a0002c0002t0002 a0004c0004t0002 a0005c0005t0002	a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0022 others(25): Show a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0026 a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0046 a0001c0001t0004g0047 a0002c0002t0002g0025 a0002c0002t0002g0027 a0002c0002t0002g0029 a0004c0004t0002g0042 a0005c0005t0002g0043 a0005c0005t0002g0044 a0005c0005t0002g0045	28	232	0.1207	-87	c.-43 others(106): Show c.-434-3334_-434-3248delTAGAGTCCCCCACAGTCTGTATTTTG CGATTGCATCCCCTTGGTGACTTTCAACATGTTCTTCTGTTCTCTGTAAT TCCTCATTCAG		SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding	1/7						chrX	TogoVar

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