JoGo: Joint Open Genome and Omics Platform

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
PAH_chr12_102831889_102922244	102835610	T T	TGTACATA others(23): Show TGTACATATGCATATACATATATGTGCATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0295 a0001c0001t0004g0295	1	312	0.0032	30	c.35 others(41): Show c.3564_*3565insGTATGCACATATATGTATATGCATATGTAC	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding		1278		chr12	TogoVar
PAH_chr12_102831889_102922244	102835616	T T	TATGCACA others(23): Show TATGCACATACATATATGTGCATACGTACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0026 a0001c0004t0026	a0001c0004t0026g0304 a0001c0004t0026g0304	1	312	0.0032	30	c.35 others(41): Show c.3558_*3559insGTGTACGTATGCACATATATGTATGTGCAT	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding		1272		chr12	TogoVar
PAH_chr12_102831889_102922244	102835622	C C	CATACATA others(23): Show CATACATATATGTGCATACGTACATATGCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0005 a0001c0009t0005	a0001c0009t0005g0235 a0001c0009t0005g0235	1	312	0.0032	30	c.35 others(41): Show c.3552_*3553insATGCATATGTACGTATGCACATATATGTAT	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding		1266		chr12	TogoVar
PAH_chr12_102831889_102922244	102835652	C C	CATACATA others(23): Show CATACATATATGTGCATACGTACATATGCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG02257.hp1 others(10): Show HG01256.hp2 HG01258.hp1 HG02257.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02809.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp2 NA19054.hp2 NA20129.hp1 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0001c0009 a0003c0013	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0003t0014 a0001c0004t0007 a0001c0009t0005 a0003c0013t0005	a0001c0001t0002g0004 a0001c0001t0002g0105 a0001c0001t0002g0106 others(9): Show a0001c0001t0002g0004 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0157 a0001c0001t0002g0210 a0001c0001t0004g0285 a0001c0001t0004g0286 a0001c0001t0007g0015 a0001c0003t0014g0278 a0001c0004t0007g0145 a0001c0009t0005g0236 a0003c0013t0005g0237	13	312	0.0417	30	c.35 others(41): Show c.3522_*3523insATGCATATGTACGTATGCACATATATGTAT	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding		1236		chr12	TogoVar
PAH_chr12_102831889_102922244	102867850	T T	TATGTATA others(23): Show TATGTATATACATATATAGATGTATATATAC	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02559.hp2 HG04204.hp2 others(4): Show HG02523.hp2 HG02559.hp2 HG04204.hp2 NA18942.hp2 NA19067.hp1 NA19070.hp1 NA19089.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0005 a0001c0003 a0002c0005	a0001c0003t0001 a0001c0003t0003 a0001c0003t0005 others(1): Show a0001c0003t0001 a0001c0003t0003 a0001c0003t0005 a0002c0005t0003	a0001c0003t0001g0048 a0001c0003t0001g0049 a0001c0003t0001g0050 others(4): Show a0001c0003t0001g0048 a0001c0003t0001g0049 a0001c0003t0001g0050 a0001c0003t0001g0115 a0001c0003t0003g0276 a0001c0003t0005g0260 a0002c0005t0003g0254	7	312	0.0224	30	c.442 others(47): Show c.442-1217_442-1188dupGTATATATACATCTATATATGTATATAC AT	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	4/12			chr12	TogoVar
PAH_chr12_102831889_102922244	102867898	G G	GATGTATA others(23): Show GATGTATATATACATGTATATACATATATAC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01081.hp1 HG01256.hp2 others(9): Show HG00741.hp1 HG01081.hp1 HG01256.hp2 HG01258.hp1 HG01515.hp1 HG02258.hp2 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03225.hp1 NA20129.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0011t0002	a0001c0001t0001g0018 a0001c0001t0002g0004 a0001c0001t0002g0013 others(8): Show a0001c0001t0001g0018 a0001c0001t0002g0004 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0157 a0001c0001t0007g0015 a0001c0001t0007g0016 a0001c0001t0007g0017 a0001c0011t0002g0069	12	312	0.0385	30	c.442 others(47): Show c.442-1236_442-1235insGTATATATGTATATACATGTATATATAC AT	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	4/12			chr12	TogoVar
PAH_chr12_102831889_102922244	102867924	T T	TATAGATG others(23): Show TATAGATGTATATATACATGTATATACATAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02970.hp1 HG01167.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0009 a0001c0001t0002g0010	2	312	0.0064	30	c.442 others(47): Show c.442-1262_442-1261insTTATGTATATACATGTATATATACATCT AT	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	4/12			chr12	TogoVar
PAH_chr12_102831889_102922244	102867971	A A	ATGTATAT others(23): Show ATGTATATACATATATAGATGTATATATACG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00639.hp2 others(74): Show HG00140.hp2 HG00323.hp1 HG00639.hp2 HG00642.hp2 HG01069.hp2 HG01074.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp2 HG01168.hp1 HG01169.hp2 HG01255.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01928.hp1 HG01943.hp1 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp2 HG02109.hp2 HG02148.hp1 HG02257.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02895.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03710.hp1 HG03834.hp1 HG03942.hp1 HG04204.hp1 HG06807.hp1 NA18522.hp1 NA18942.hp1 NA18992.hp1 NA19004.hp2 NA19007.hp2 NA19012.hp1 NA19240.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0012 a0001c0007t0002 a0001c0007t0010 a0001c0007t0017	a0001c0001t0001g0026 a0001c0001t0001g0044 a0001c0001t0001g0045 others(73): Show a0001c0001t0001g0026 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0179 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0155 a0001c0001t0002g0161 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0180 a0001c0001t0002g0183 a0001c0001t0002g0188 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0205 a0001c0001t0002g0212 a0001c0001t0002g0217 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0003g0233 a0001c0001t0003g0255 a0001c0001t0004g0262 a0001c0001t0004g0294 a0001c0001t0006g0226 a0001c0001t0006g0227 a0001c0001t0006g0229 a0001c0001t0006g0230 a0001c0001t0009g0299 a0001c0001t0012g0146 a0001c0001t0012g0190 a0001c0007t0002g0040 a0001c0007t0002g0178 a0001c0007t0010g0031 a0001c0007t0010g0032 a0001c0007t0010g0033 a0001c0007t0017g0043	77	312	0.2468	30	c.442 others(47): Show c.442-1309_442-1308insCGTATATATACATCTATATATGTATATA CA	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	4/12			chr12	TogoVar
PAH_chr12_102831889_102922244	102867971	A A	ATGTATAT others(23): Show ATGTATATACATATATAGATGTATATTTACG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01175.hp1 HG00738.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0011 a0001c0001t0001 a0001c0002t0011	a0001c0001t0001g0020 a0001c0002t0011g0030 a0001c0001t0001g0020 a0001c0002t0011g0030	2	312	0.0064	30	c.442 others(47): Show c.442-1309_442-1308insCGTAAATATACATCTATATATGTATATA CA	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	4/12			chr12	TogoVar
PAH_chr12_102831889_102922244	102899858	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01978.hp2 HG01106.hp1 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0205 a0001c0001t0002g0225 a0001c0001t0002g0205 a0001c0001t0002g0225	2	312	0.0064	30	c.169 others(47): Show c.169-4941_169-4940insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	2/12			chr12	TogoVar
PAIP1_chr5_43521267_43562077	43531656	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	350	0.0029	30	c.125 others(49): Show c.1253-1778_1253-1777insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	PAIP1	ENSG00000172239.14	transcript	ENST00000306846.8	protein_coding	9/10			chr5	TogoVar
PAIP2_chr5_139336854_139374717	139352488	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	344	0.0029	30	c.-27 others(49): Show c.-27+10518_-27+10519insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	PAIP2	ENSG00000120727.13	transcript	ENST00000265192.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PAK2_chr3_196734857_196837647	196751674	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02895.hp1 HG02897.hp1 others(1): Show HG02615.hp1 HG02895.hp1 HG02897.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0011 a0001c0001t0055 a0001c0002t0005 others(1): Show a0001c0001t0011 a0001c0001t0055 a0001c0002t0005 a0001c0002t0013	a0001c0001t0011g0154 a0001c0001t0055g0157 a0001c0002t0005g0155 others(1): Show a0001c0001t0011g0154 a0001c0001t0055g0157 a0001c0002t0005g0155 a0001c0002t0013g0156	4	178	0.0225	30	c.-22 others(49): Show c.-22+11538_-22+11539insTATATATATATATATATATATATATA TATA	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PAK2_chr3_196734857_196837647	196751695	A A	ATATATAT others(23): Show ATATATATATATATATATATATAAAAATTAC	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA18945.hp1 NA19088.hp2 HG02135.hp1 NA18945.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0090 a0001c0001t0002g0106 a0001c0001t0002g0070 a0001c0001t0002g0090 a0001c0001t0002g0106	3	178	0.0169	30	c.-22 others(49): Show c.-22+11538_-22+11539insTATATATATATATATATATATAAAAA TTAC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	1/14			chr3	TogoVar
PAK2_chr3_196734857_196837647	196751695	A A	ATATATAT others(23): Show ATATATATATATATATATATATATAAATTAC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 NA18906.hp1 others(1): Show HG01070.hp1 HG01071.hp2 NA18906.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0016 a0001c0001t0017 a0001c0001t0002 a0001c0001t0016 a0001c0001t0017	a0001c0001t0002g0095 a0001c0001t0016g0075 a0001c0001t0016g0110 others(1): Show a0001c0001t0002g0095 a0001c0001t0016g0075 a0001c0001t0016g0110 a0001c0001t0017g0101	4	178	0.0225	30	c.-22 others(49): Show c.-22+11538_-22+11539insTATATATATATATATATATATATAAA TTAC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	1/14			chr3	TogoVar
PAK2_chr3_196734857_196837647	196808557	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0053 a0001c0001t0037g0053	1	178	0.0056	30	c.709 others(45): Show c.709+661_709+662insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PAK2_chr3_196734857_196837647	196810128	T T	TCAAACTT others(23): Show TCAAACTTACCTATTAATAGATATATTCAAA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0102 a0001c0001t0061g0102	1	178	0.0056	30	c.710 others(45): Show c.710-461_710-432dupCAAACTTACCTATTAATAGATATATTCAAA	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PAK2_chr3_196734857_196837647	196833491	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATTTATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG03225.hp1 HG02976.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0041 a0001c0001t0038 a0001c0001t0041	a0001c0001t0038g0060 a0001c0001t0041g0046 a0001c0001t0038g0060 a0001c0001t0041g0046	2	178	0.0112	30	c.50 others(41): Show c.5086_*5087insTATATATATATATATATATATATATTTATT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding		845		chr3	TogoVar
PAK2_chr3_196734857_196837647	196834252	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0158 a0001c0001t0011g0158	1	178	0.0056	30	c.58 others(41): Show c.5847_*5848insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding		1606		chr3	TogoVar
PAK3_chrX_111091191_111232361	111207104	A A	ACATATAT others(23): Show ACATATATACATATACATATATGTATGTGTG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0110 a0001c0001t0010g0110	1	195	0.0051	30	c.140 others(49): Show c.1408-9317_1408-9316insCATATATACATATACATATATGTATG TGTG	PAK3	ENSG00000077264.17	transcript	ENST00000372007.10	protein_coding	16/17			chrX	TogoVar
PAK5_chr20_9532370_9844076	9802910	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01261.hp1 HG01069.hp1 HG01261.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0002 a0002c0001t0016 a0001c0002t0002 a0002c0001t0016	a0001c0002t0002g0016 a0002c0001t0016g0207 a0001c0002t0002g0016 a0002c0001t0016g0207	2	208	0.0096	30	c.-16 others(51): Show c.-162+35851_-162+35852insTATATATATATATATATATATATA TATATA	PAK5	ENSG00000101349.17	transcript	ENST00000353224.10	protein_coding	1/9			chr20	TogoVar
PAK5_chr20_9532370_9844076	9802910	G G	GTGTGTAT others(23): Show GTGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0015 a0001c0004t0015	a0001c0004t0015g0098 a0001c0004t0015g0098	1	208	0.0048	30	c.-16 others(51): Show c.-162+35851_-162+35852insTATATATATATATATATATATATA TACACA	PAK5	ENSG00000101349.17	transcript	ENST00000353224.10	protein_coding	1/9			chr20	TogoVar
PAK5_chr20_9532370_9844076	9802910	G G	GTGTGTGT others(23): Show GTGTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0166 a0001c0002t0003g0166	1	208	0.0048	30	c.-16 others(51): Show c.-162+35851_-162+35852insTATATATATATATATATATATATA CACACA	PAK5	ENSG00000101349.17	transcript	ENST00000353224.10	protein_coding	1/9			chr20	TogoVar
PALB2_chr16_23598165_23646310	23645137	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	326	0.0031	30	c.-39 others(41): Show c.-3981_-3980insAATATATATATATATATATATATATATATA	PALB2	ENSG00000083093.11	transcript	ENST00000261584.9	protein_coding		3828		chr16	TogoVar
PALD1_chr10_70473767_70573450	70508843	C C	CTGTGTGT others(23): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01123.hp1 HG01243.hp1 others(27): Show HG00280.hp1 HG01123.hp1 HG01243.hp1 HG01433.hp2 HG01884.hp2 HG01891.hp1 HG01943.hp2 HG02055.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02293.hp1 HG02451.hp2 HG02647.hp2 HG02717.hp2 HG02895.hp1 HG03041.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03516.hp2 HG03654.hp1 HG04199.hp1 NA18906.hp1 NA19043.hp1 NA19064.hp1 NA19087.hp2 NA20805.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0010	a0001c0001 a0001c0004 a0001c0026 others(5): Show a0001c0001 a0001c0004 a0001c0026 a0002c0002 a0003c0003 a0003c0036 a0005c0015 a0010c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0017 a0001c0001t0026 a0001c0001t0031 a0001c0001t0035 a0001c0001t0037 a0001c0001t0048 a0001c0004t0010 a0001c0004t0018 a0001c0026t0011 a0002c0002t0001 a0003c0003t0003 a0003c0003t0020 a0003c0036t0003 a0005c0015t0042 a0010c0017t0002	a0001c0001t0001g0165 a0001c0001t0001g0183 a0001c0001t0002g0090 others(27): Show a0001c0001t0001g0165 a0001c0001t0001g0183 a0001c0001t0002g0090 a0001c0001t0002g0291 a0001c0001t0005g0295 a0001c0001t0006g0193 a0001c0001t0006g0298 a0001c0001t0008g0221 a0001c0001t0009g0217 a0001c0001t0009g0218 a0001c0001t0017g0254 a0001c0001t0026g0208 a0001c0001t0031g0301 a0001c0001t0035g0216 a0001c0001t0037g0299 a0001c0001t0048g0227 a0001c0004t0010g0204 a0001c0004t0010g0294 a0001c0004t0010g0296 a0001c0004t0018g0241 a0001c0004t0018g0242 a0001c0026t0011g0259 a0002c0002t0001g0093 a0003c0003t0003g0092 a0003c0003t0003g0137 a0003c0003t0020g0109 a0003c0036t0003g0151 a0005c0015t0042g0264 a0010c0017t0002g0184 a0010c0017t0002g0300	30	308	0.0974	30	c.-29 others(49): Show c.-29-17066_-29-17065insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTG	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PALD1_chr10_70473767_70573450	70556306	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTGTCTCTGTCTCTG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0305 a0001c0001t0038g0305	1	308	0.0033	30	c.226 others(49): Show c.2263-8057_2263-8056insCTCTCTCTCTCTCTCTGTCTCTGTCT CTGT	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PALLD_chr4_168492052_168933441	168625502	G G	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0093 a0001c0002t0010g0093	1	156	0.0064	30	c.909 others(49): Show c.909-42672_909-42671insATATATATATATATATATATATATAT ATAT	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168785846	G G	GAGATATA others(23): Show GAGATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0004 a0002c0007t0004	a0002c0007t0004g0027 a0002c0007t0004g0027	1	156	0.0064	30	c.196 others(51): Show c.1964+73924_1964+73925insGATATATATATATATATATATATA TATATA	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168785846	G G	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01071.hp1 HG00642.hp1 HG01071.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0015 a0001c0001 a0002c0015	a0001c0001t0002 a0002c0015t0016 a0001c0001t0002 a0002c0015t0016	a0001c0001t0002g0111 a0002c0015t0016g0035 a0001c0001t0002g0111 a0002c0015t0016g0035	2	156	0.0128	30	c.196 others(51): Show c.1964+73925_1964+73954dupTATATATATATATATATATATATA TATATA	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110035788	G G	GGATATGT others(23): Show GGATATGTTGTATGTTATATGTAACATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0164 a0003c0003t0001g0164	1	222	0.0045	30	c.582 others(49): Show c.582+19759_582+19760insATGTTATATGTAACATATATGATATG TTGT	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110035808	G G	GTAACATA others(23): Show GTAACATATATGATATGTTGTGTGTTATATA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0156 a0002c0002t0003g0156	1	222	0.0045	30	c.582 others(49): Show c.582+19779_582+19780insGATATGTTGTGTGTTATATATAACAT ATAT	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110076492	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01516.hp1 NA19043.hp1 NA19060.hp2 HG01516.hp1 NA19043.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0001 a0001c0001t0002 a0001c0001t0010	a0001c0001t0001g0039 a0001c0001t0002g0036 a0001c0001t0010g0015 a0001c0001t0001g0039 a0001c0001t0002g0036 a0001c0001t0010g0015	3	222	0.0135	30	c.583 others(49): Show c.583-59616_583-59615insTATATATATATATATATATATATATA TATA	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110135164	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	222	0.0045	30	c.583 others(45): Show c.583-962_583-961insAAAAAAAAAAAATATATATATATATATATA	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PALMD_chr1_99641113_99699535	99652694	G G	GGAAAAGA others(23): Show GGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	380	0.0026	30	c.45+ others(45): Show c.45+6352_45+6381dupAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA	PALMD	ENSG00000099260.12	transcript	ENST00000263174.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
PALMD_chr1_99641113_99699535	99652694	G G	GGAAAGGA others(23): Show GGAAAGGAAAGGAAAAGAAAAGAAAAGAAAA	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	380	0.0026	30	c.45+ others(45): Show c.45+6336_45+6337insGGAAAGGAAAAGAAAAGAAAAGAAAAGAAA	PALMD	ENSG00000099260.12	transcript	ENST00000263174.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
PALM_chr19_703935_753329	735244	C C	CCAGGTGC others(23): Show CCAGGTGCTTGTCTGGATGTCTGGGGGCCCA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(147): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00544.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp2 HG01168.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01261.hp1 HG01361.hp2 HG01516.hp2 HG01891.hp2 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02148.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02723.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18949.hp1 NA18949.hp2 NA18954.hp1 NA18956.hp2 NA18959.hp1 NA18963.hp2 NA18964.hp2 NA18966.hp2 NA18973.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18995.hp2 NA18998.hp1 NA19000.hp2 NA19007.hp1 NA19009.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19055.hp1 NA19056.hp1 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19085.hp1 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA21309.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0002 a0001c0003 a0001c0004 others(5): Show a0001c0002 a0001c0003 a0001c0004 a0002c0001 a0002c0005 a0002c0006 a0004c0012 a0005c0011	a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 others(25): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0010 a0001c0002t0012 a0001c0002t0013 a0001c0002t0026 a0001c0002t0031 a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 a0001c0003t0014 a0001c0003t0017 a0001c0003t0022 a0001c0004t0003 a0002c0001t0001 a0002c0001t0004 a0002c0001t0009 a0002c0001t0012 a0002c0001t0020 a0002c0005t0003 a0002c0005t0029 a0002c0006t0006 a0004c0012t0001 a0005c0011t0001	a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0045 others(140): Show a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0045 a0001c0002t0001g0060 a0001c0002t0001g0110 a0001c0002t0001g0115 a0001c0002t0001g0149 a0001c0002t0001g0198 a0001c0002t0001g0200 a0001c0002t0001g0205 a0001c0002t0001g0219 a0001c0002t0001g0256 a0001c0002t0001g0260 a0001c0002t0001g0265 a0001c0002t0001g0302 a0001c0002t0001g0318 a0001c0002t0001g0337 a0001c0002t0001g0357 a0001c0002t0002g0005 a0001c0002t0002g0014 a0001c0002t0002g0015 a0001c0002t0002g0027 a0001c0002t0002g0059 a0001c0002t0002g0097 a0001c0002t0002g0100 a0001c0002t0002g0103 a0001c0002t0002g0107 a0001c0002t0002g0112 a0001c0002t0002g0183 a0001c0002t0002g0201 a0001c0002t0002g0225 a0001c0002t0002g0250 a0001c0002t0002g0257 a0001c0002t0002g0331 a0001c0002t0002g0347 a0001c0002t0002g0351 a0001c0002t0002g0353 a0001c0002t0002g0360 a0001c0002t0002g0362 a0001c0002t0002g0363 a0001c0002t0002g0367 a0001c0002t0002g0368 a0001c0002t0004g0013 a0001c0002t0004g0017 a0001c0002t0004g0018 a0001c0002t0004g0019 a0001c0002t0004g0053 a0001c0002t0004g0136 a0001c0002t0004g0144 a0001c0002t0004g0164 a0001c0002t0004g0251 a0001c0002t0004g0253 a0001c0002t0004g0254 a0001c0002t0004g0255 a0001c0002t0004g0259 a0001c0002t0004g0286 a0001c0002t0004g0340 a0001c0002t0005g0087 a0001c0002t0005g0220 a0001c0002t0005g0237 a0001c0002t0005g0326 a0001c0002t0006g0029 a0001c0002t0007g0274 a0001c0002t0010g0030 a0001c0002t0010g0261 a0001c0002t0012g0074 a0001c0002t0013g0379 a0001c0002t0026g0263 a0001c0002t0031g0258 a0001c0003t0001g0026 a0001c0003t0001g0031 a0001c0003t0001g0039 a0001c0003t0001g0075 a0001c0003t0001g0079 a0001c0003t0001g0109 a0001c0003t0001g0122 a0001c0003t0001g0123 a0001c0003t0001g0127 a0001c0003t0001g0145 a0001c0003t0001g0180 a0001c0003t0001g0211 a0001c0003t0001g0214 a0001c0003t0001g0215 a0001c0003t0001g0217 a0001c0003t0001g0218 a0001c0003t0001g0236 a0001c0003t0001g0239 a0001c0003t0001g0252 a0001c0003t0001g0266 a0001c0003t0001g0289 a0001c0003t0001g0358 a0001c0003t0001g0370 a0001c0003t0001g0372 a0001c0003t0001g0378 a0001c0003t0001g0381 a0001c0003t0002g0043 a0001c0003t0002g0108 a0001c0003t0006g0346 a0001c0003t0006g0373 a0001c0003t0014g0275 a0001c0003t0014g0278 a0001c0003t0017g0350 a0001c0003t0022g0037 a0001c0004t0003g0306 a0002c0001t0001g0012 a0002c0001t0001g0044 a0002c0001t0001g0050 a0002c0001t0001g0068 a0002c0001t0001g0099 a0002c0001t0001g0202 a0002c0001t0001g0283 a0002c0001t0001g0303 a0002c0001t0001g0309 a0002c0001t0001g0314 a0002c0001t0001g0319 a0002c0001t0001g0333 a0002c0001t0001g0348 a0002c0001t0004g0124 a0002c0001t0004g0284 a0002c0001t0004g0377 a0002c0001t0009g0313 a0002c0001t0012g0249 a0002c0001t0020g0332 a0002c0005t0003g0071 a0002c0005t0003g0072 a0002c0005t0003g0120 a0002c0005t0003g0121 a0002c0005t0003g0166 a0002c0005t0003g0194 a0002c0005t0003g0195 a0002c0005t0003g0232 a0002c0005t0003g0235 a0002c0005t0003g0301 a0002c0005t0003g0304 a0002c0005t0003g0310 a0002c0005t0003g0311 a0002c0005t0003g0316 a0002c0005t0003g0345 a0002c0005t0029g0315 a0002c0006t0006g0279 a0002c0006t0006g0280 a0004c0012t0001g0364 a0005c0011t0001g0308	150	404	0.3713	30	c.443 others(45): Show c.443-768_443-767insTTGTCTGGATGTCTGGGGGCCCACAGGTGC	PALM	ENSG00000099864.18	transcript	ENST00000338448.10	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
PALS1_chr14_67236435_67341061	67284429	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA19055.hp2 HG02922.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0177 a0001c0001t0005g0275 a0001c0001t0005g0177 a0001c0001t0005g0275	2	290	0.0069	30	c.367 others(47): Show c.367+4907_367+4908insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	PALS1	ENSG00000072415.10	transcript	ENST00000261681.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
PALS2_chr7_24568452_24699193	24573297	T T	TGGAGGAG others(23): Show TGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0032 a0001c0003t0032	a0001c0003t0032g0167 a0001c0003t0032g0167	1	378	0.0027	30	c.-29 others(39): Show c.-299_-298insGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA	PALS2	ENSG00000105926.16	transcript	ENST00000222644.10	protein_coding		154		chr7	TogoVar
PALS2_chr7_24568452_24699193	24638322	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0026 a0001c0002t0026	a0001c0002t0026g0324 a0001c0002t0026g0324	1	378	0.0027	30	c.118 others(47): Show c.118-3368_118-3367insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	PALS2	ENSG00000105926.16	transcript	ENST00000222644.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
PAM_chr5_102750305_103034716	102779918	T T	TATATATA others(23): Show TATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0087 a0001c0001t0002g0087	1	188	0.0053	30	c.-37 others(51): Show c.-374+24571_-374+24572insTATATATATATATATATATATACA CACACA	PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PAM_chr5_102750305_103034716	102842205	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA19030.hp1 HG02922.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0043 a0001c0001t0009g0117 a0001c0001t0001g0043 a0001c0001t0009g0117	2	188	0.0106	30	c.-37 others(51): Show c.-373-23596_-373-23595insATATATATATATATATATATATAT ATATAT	PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PAM_chr5_102750305_103034716	102885094	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA18945.hp1 NA20129.hp1 HG03540.hp1 NA18945.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0113 a0001c0002t0002g0008 a0001c0002t0002g0141 a0001c0001t0002g0113 a0001c0002t0002g0008 a0001c0002t0002g0141	3	188	0.0160	30	c.211 others(49): Show c.211-16261_211-16260insTATATATATATATATATATATATATA TAAA	PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	3/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PANK3_chr5_168543495_168584368	168565864	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0268	1	416	0.0024	30	c.635 others(45): Show c.635+148_635+149insATATATATATATATATATATATATATATAT	PANK3	ENSG00000120137.7	transcript	ENST00000239231.7	protein_coding	3/6			chr5	TogoVar
PANK3_chr5_168543495_168584368	168565868	A A	AAAAAAAA others(23): Show AAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0313 a0001c0001t0001g0313	1	416	0.0024	30	c.635 others(45): Show c.635+144_635+145insATATATATATATATATATATATTTTTTTTT	PANK3	ENSG00000120137.7	transcript	ENST00000239231.7	protein_coding	3/6			chr5	TogoVar
PANK3_chr5_168543495_168584368	168565868	A A	AAAAAATA others(23): Show AAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0306 a0001c0001t0001g0306	1	416	0.0024	30	c.635 others(45): Show c.635+144_635+145insATATATATATATATATATATATATATTTTT	PANK3	ENSG00000120137.7	transcript	ENST00000239231.7	protein_coding	3/6			chr5	TogoVar
PANK3_chr5_168543495_168584368	168565868	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0325 a0001c0001t0001g0325	1	416	0.0024	30	c.635 others(45): Show c.635+144_635+145insATATATATATATATATATATATATATATAT	PANK3	ENSG00000120137.7	transcript	ENST00000239231.7	protein_coding	3/6			chr5	TogoVar
PAOX_chr10_133374262_133396694	133379037	T T	TTCCCCGC others(23): Show TTCCCCGCGCCTCCCCGCCCCTCCCCGCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp2 NA19043.hp1 NA18944.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0083 a0001c0001t0001g0052 a0001c0001t0001g0083	2	346	0.0058	30	c.-28 others(39): Show c.-280_-279insTCCCCGCGCCTCCCCGCCCCTCCCCGCCCC	PAOX	ENSG00000148832.16	transcript	ENST00000278060.10	protein_coding		224		chr10	TogoVar
PAOX_chr10_133374262_133396694	133379145	G G	GCCTCCCC others(23): Show GCCTCCCCGCCCCTCCCCGCGCCTCCCCGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG03209.hp1 HG03540.hp1 HG02615.hp2 HG03209.hp1 HG03540.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0025 a0005c0006t0001g0025	3	346	0.0087	30	c.-17 others(39): Show c.-172_-171insCCTCCCCGCCCCTCCCCGCGCCTCCCCGCC	PAOX	ENSG00000148832.16	transcript	ENST00000278060.10	protein_coding		116		chr10	TogoVar
PAPPA2_chr1_176458175_176850601	176623747	T T	TTTCTTTC others(23): Show TTTCTTTCTCTCTCTTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0109 a0001c0001t0005g0109	1	118	0.0085	30	c.199 others(51): Show c.1991+28155_1991+28156insTTTCTCTCTCTTTCCTTCCTTCCT TCCTTC	PAPPA2	ENSG00000116183.11	transcript	ENST00000367662.5	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAPPA_chr9_116148791_116407321	116156306	G G	GTATATAT others(23): Show GTATATATATGTGTGTATATATATATGTGTA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02630.hp2 HG02717.hp1 others(6): Show HG02451.hp2 HG02630.hp2 HG02717.hp1 HG02818.hp1 HG03139.hp1 HG03579.hp2 NA18906.hp2 NA19030.hp2 NA19240.hp2	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0021	a0001c0002 a0002c0003 a0002c0004 others(2): Show a0001c0002 a0002c0003 a0002c0004 a0008c0027 a0021c0028	a0001c0002t0017 a0002c0003t0003 a0002c0003t0006 others(6): Show a0001c0002t0017 a0002c0003t0003 a0002c0003t0006 a0002c0003t0027 a0002c0004t0016 a0002c0004t0017 a0002c0004t0052 a0008c0027t0002 a0021c0028t0004	a0001c0002t0017g0042 a0002c0003t0003g0041 a0002c0003t0006g0082 others(6): Show a0001c0002t0017g0042 a0002c0003t0003g0041 a0002c0003t0006g0082 a0002c0003t0027g0038 a0002c0004t0016g0081 a0002c0004t0017g0040 a0002c0004t0052g0039 a0008c0027t0002g0224 a0021c0028t0004g0223	9	234	0.0385	30	c.415 others(47): Show c.415+1729_415+1758dupGTGTGTATATATATATGTGTATATATAT AT	PAPPA	ENSG00000182752.10	transcript	ENST00000328252.4	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr9	TogoVar

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