Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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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
PID1_chr2_229018973_229276287	229184013	TATGTATG others(62): Show TATGTATGTATATATCCCATATATATATCCCATATATATATCCCATATAT ATATCCCATATGTATATCCC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG00735.hp1 others(34): Show HG00438.hp1 HG00544.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01081.hp1 HG01123.hp2 HG01167.hp2 HG01257.hp2 HG01258.hp1 HG01358.hp2 HG01934.hp1 HG02015.hp2 HG02109.hp2 HG02129.hp2 HG02809.hp2 HG02896.hp1 HG02897.hp1 HG02970.hp2 HG03491.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03927.hp1 HG04199.hp1 NA18747.hp1 NA18942.hp1 NA18944.hp2 NA18966.hp1 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18983.hp2 NA18999.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0024 a0001c0002t0007 a0001c0002t0021	a0001c0001t0001g0022 a0001c0001t0001g0036 a0001c0001t0001g0085 others(34): Show a0001c0001t0001g0022 a0001c0001t0001g0036 a0001c0001t0001g0085 a0001c0001t0001g0099 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0194 a0001c0001t0001g0239 a0001c0001t0002g0039 a0001c0001t0002g0046 a0001c0001t0002g0058 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0120 a0001c0001t0002g0153 a0001c0001t0002g0155 a0001c0001t0002g0169 a0001c0001t0002g0181 a0001c0001t0002g0186 a0001c0001t0002g0196 a0001c0001t0002g0206 a0001c0001t0002g0228 a0001c0001t0002g0231 a0001c0001t0003g0023 a0001c0001t0003g0053 a0001c0001t0003g0066 a0001c0001t0003g0107 a0001c0001t0003g0125 a0001c0001t0011g0035 a0001c0001t0024g0245 a0001c0002t0007g0098 a0001c0002t0021g0195	37	256	0.1445	-69	c.31- others(86): Show c.31-28118_31-28050delGGGATATACATATGGGATATATATATGG GATATATATATGGGATATATATATGGGATATATACATACAT		PID1	ENSG00000153823.19	transcript	ENST00000392055.8	protein_coding	1/2						chr2	TogoVar
PIR_chrX_15379799_15498333	15433650	AGAGGAAG others(62): Show AGAGGAAGGAGAAAGAAGGAGGAGGAGGAAGGAGAAAGAAGGAGGAGGAG GAAGGAGAAAGAAGGAGGAG	A A	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0129 a0001c0002t0001g0129	1	272	0.0037	-69	c.481 others(86): Show c.481-7729_481-7661delCTCCTCCTTCTTTCTCCTTCCTCCTCCT CCTTCTTTCTCCTTCCTCCTCCTCCTTCTTTCTCCTTCCTC		PIR	ENSG00000087842.11	transcript	ENST00000380420.10	protein_coding	5/9						chrX	TogoVar
PJA2_chr5_109329722_109414974	109333887	TAGAGAAA others(62): Show TAGAGAAATTTGGTGACAATCTTCCAACAATGAAATTCATCCCTTGCAGG GGTGCTGAATGGCTCCATCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0070 a0003c0003t0002g0105 a0003c0003t0002g0106 a0003c0003t0002g0070 a0003c0003t0002g0105 a0003c0003t0002g0106	3	346	0.0087	-69	c.32 others(80): Show c.3275_*3343delGGATGGAGCCATTCAGCACCCCTGCAAGGGATGA ATTTCATTGTTGGAAGATTGTCACCAAATTTCTCT		PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding					834		chr5	TogoVar
PKD1_chr16_2083708_2140898	2091273	GGACGCTG others(62): Show GGACGCTGCCGGGGCGGGGCCCTGCGAGGGGGCGGGACGCTGCGAGGGGG CGGGGCGCTGCGAGGGGTGA	G G	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG04199.hp1 NA18990.hp1 others(1): Show HG01496.hp2 HG04199.hp1 NA18990.hp1 NA19003.hp1	a0001 a0030 a0031 a0001 a0030 a0031	a0001c0011 a0030c0093 a0031c0094 a0001c0011 a0030c0093 a0031c0094	a0001c0011t0001 a0030c0093t0001 a0031c0094t0001 a0001c0011t0001 a0030c0093t0001 a0031c0094t0001	a0001c0011t0001g0072 a0001c0011t0001g0153 a0030c0093t0001g0064 others(1): Show a0001c0011t0001g0072 a0001c0011t0001g0153 a0030c0093t0001g0064 a0031c0094t0001g0162	4	216	0.0185	-69	c.117 others(87): Show c.11712+81_11713-100delTCACCCCTCGCAGCGCCCCGCCCCCTC GCAGCGTCCCGCCCCCTCGCAGGGCCCCGCCCCGGCAGCGTC		PKD1	ENSG00000008710.20	transcript	ENST00000262304.9	protein_coding	42/45						chr16	TogoVar
PKD2L1_chr10_100283149_100335228	100314965	AGGAAGGA others(62): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GGAAGGGAAGGGAAGGGAAG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 NA21309.hp1 HG02630.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0188 a0003c0004t0001g0282 a0001c0001t0001g0188 a0003c0004t0001g0282	2	306	0.0065	-69	c.349 others(88): Show c.349+14177_349+14245delCTTCCCTTCCCTTCCCTTCCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC		PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15						chr10	TogoVar
PKD2L1_chr10_100283149_100335228	100314985	AGGAAGGA others(62): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAAGGGAAGGGAAGGGAAG GGAAGGGAAGGGAAGGGAAG	A A	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0012 a0006c0007t0001g0012	1	306	0.0033	-69	c.349 others(88): Show c.349+14157_349+14225delCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC		PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15						chr10	TogoVar
PLCB3_chr11_64246530_64272923	64271135	CTCACACA others(62): Show CTCACACACACACACACACACACACACACCTGGAGTGGGATCTAGACTAC AGATCCCAGCATGCCCTGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0006 a0001c0004t0002g0006	1	382	0.0026	-69	c.35 others(80): Show c.3580_*3648delTCACACACACACACACACACACACACACCTGGAG TGGGATCTAGACTACAGATCCCAGCATGCCCTGTG		PLCB3	ENSG00000149782.13	transcript	ENST00000279230.12	protein_coding					3213		chr11	TogoVar
PLCXD1_chrX_276381_308356	277785	CAGGGCAC others(62): Show CAGGGCACGTGGGGACAGGAGTGGACACCCCTCAGTGGTCAGGGGACCTG GGATGTGAGGGGAGGGCTCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02559.hp2 HG02723.hp1 others(6): Show HG02280.hp2 HG02559.hp2 HG02723.hp1 HG02896.hp1 HG02922.hp1 HG02976.hp1 HG03130.hp1 NA18993.hp1 NA19074.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0010c0008	a0001c0001t0012 a0001c0001t0015 a0001c0001t0024 others(5): Show a0001c0001t0012 a0001c0001t0015 a0001c0001t0024 a0001c0001t0080 a0001c0001t0114 a0001c0002t0090 a0001c0003t0107 a0010c0008t0077	a0001c0001t0012g0015 a0001c0001t0015g0073 a0001c0001t0015g0074 others(6): Show a0001c0001t0012g0015 a0001c0001t0015g0073 a0001c0001t0015g0074 a0001c0001t0024g0101 a0001c0001t0080g0088 a0001c0001t0114g0013 a0001c0002t0090g0151 a0001c0003t0107g0104 a0010c0008t0077g0072	9	176	0.0511	-69	c.-39 others(80): Show c.-3920_-3852delAGGGCACGTGGGGACAGGAGTGGACACCCCTCAG TGGTCAGGGGACCTGGGATGTGAGGGGAGGGCTCA		PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding					3595		chrX	TogoVar
PLK5_chr19_1519077_1541046	1527655	AGCCAGGT others(62): Show AGCCAGGTGCAGGCAGGGGATGGACAGACGCTGGTGTCCACCAAGCAGGG TCCATGGGACTGCACAGGGT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02615.hp2 HG03225.hp1 others(1): Show HG02258.hp2 HG02615.hp2 HG03225.hp1 HG03540.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0035 a0004c0004t0070 a0004c0004t0074 a0004c0004t0035 a0004c0004t0070 a0004c0004t0074	a0004c0004t0035g0015 a0004c0004t0070g0166 a0004c0004t0074g0047 a0004c0004t0035g0015 a0004c0004t0070g0166 a0004c0004t0074g0047	4	430	0.0093	-69	c.3-2 others(80): Show c.3-233_3-165delGGTCCATGGGACTGCACAGGGTGCCAGGTGCAGG CAGGGGATGGACAGACGCTGGTGTCCACCAAGCAG		PLK5	ENSG00000185988.15	transcript	ENST00000454744.7	protein_coding	6/13					INFO_REALIGN_3_PRIME	chr19	TogoVar
PLPP1_chr5_55419854_55539964	55512479	AAAAAGAA others(62): Show AAAAAGAAAGAAAGAAAGAAAAGAAAAGAAAAGAAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01081.hp2 HG01106.hp1 others(34): Show HG00423.hp2 HG01081.hp2 HG01106.hp1 HG01123.hp2 HG01168.hp1 HG01243.hp1 HG01256.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp2 HG02080.hp2 HG02135.hp2 HG02698.hp1 HG02717.hp1 HG03017.hp1 HG03041.hp1 HG03130.hp2 HG03225.hp1 HG03486.hp1 HG03491.hp1 HG03540.hp1 HG03654.hp1 HG03704.hp1 HG04204.hp2 NA18522.hp1 NA18941.hp2 NA18944.hp2 NA18964.hp2 NA18966.hp2 NA18972.hp1 NA18999.hp2 NA19004.hp1 NA19012.hp2 NA19068.hp1 NA19080.hp2 NA20129.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0004t0001	a0001c0001t0001g0107 a0001c0001t0001g0137 a0001c0001t0001g0138 others(34): Show a0001c0001t0001g0107 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0004g0004 a0001c0001t0004g0005 a0001c0001t0006g0003 a0001c0001t0010g0143 a0001c0004t0001g0141	37	294	0.1259	-69	c.58+ others(86): Show c.58+22024_58+22092delCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTTCTTTTCTTTTCTTTTCTTTCTTTCTTTCTTTT		PLPP1	ENSG00000067113.17	transcript	ENST00000307259.9	protein_coding	1/5						chr5	TogoVar
PODXL_chr7_131495271_131561628	131556665	CCGGCCCC others(62): Show CCGGCCCCCGCCCCCGCCCCCGCCCCTCCCCCTCCCCCAGGAGCCCGCCA GCGGCGGCGGCCGGGCCGGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0013 a0013	a0013c0025 a0013c0025	a0013c0025t0009 a0013c0025t0009	a0013c0025t0009g0098 a0013c0025t0009g0098	1	440	0.0023	-69	c.-37 others(78): Show c.-375_-307delCCCGGCCCGGCCGCCGCCGCTGGCGGGCTCCTGGGG GAGGGGGAGGGGCGGGGGCGGGGGCGGGGGCCG		PODXL	ENSG00000128567.17	transcript	ENST00000378555.8	protein_coding					38		chr7	TogoVar
POLR1A_chr2_86015216_86110886	86108044	TGAGCCCA others(62): Show TGAGCCCAGGAGTTCAAGGGTTCAGTGAGCTATAATTGCACTACTTCACT AAAGGCTAGGCAATGGAGCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0011 a0005c0006t0011	a0005c0006t0011g0111 a0005c0006t0011g0111	1	340	0.0029	-69	c.-23 others(80): Show c.-2337_-2269delTGCTCCATTGCCTAGCCTTTAGTGAAGTAGTGCA ATTATAGCTCACTGAACCCTTGAACTCCTGGGCTC		POLR1A	ENSG00000068654.17	transcript	ENST00000263857.11	protein_coding					2159		chr2	TogoVar
PPIAL4C_chr1_149578848_149589607	149583467	GAAGAAAG others(62): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAAGAAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp1 NA20752.hp1 NA18955.hp1 NA20752.hp1	a0003 a0004 a0003 a0004	a0003c0003 a0004c0004 a0003c0003 a0004c0004	a0003c0003t0002 a0004c0004t0003 a0003c0003t0002 a0004c0004t0003	a0003c0003t0002g0000 a0004c0004t0003g0000 a0003c0003t0002g0000 a0004c0004t0003g0000	2	448	0.0045	-69	c.-43 others(78): Show c.-430_-362delAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGA		PPIAL4C	ENSG00000288867.1	transcript	ENST00000585245.3	protein_coding					380		chr1	TogoVar
PPP2R2D_chr10_131896008_131964834	131949712	GGAACATC others(62): Show GGAACATCTAGAAATGACAAGTATGATACATGACCGCCAAACATGACGTG GAGACTGGAAAGGAGTCAGA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01069.hp2 HG01071.hp2 others(10): Show HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01884.hp1 HG02109.hp1 HG02280.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG03041.hp2 HG03130.hp1 HG03453.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0024 a0001c0001t0066 others(2): Show a0001c0001t0010 a0001c0001t0024 a0001c0001t0066 a0001c0001t0067 a0001c0001t0083	a0001c0001t0010g0004 a0001c0001t0010g0020 a0001c0001t0010g0021 others(6): Show a0001c0001t0010g0004 a0001c0001t0010g0020 a0001c0001t0010g0021 a0001c0001t0010g0168 a0001c0001t0024g0049 a0001c0001t0024g0050 a0001c0001t0066g0172 a0001c0001t0067g0167 a0001c0001t0083g0178	13	394	0.0330	-69	c.108 others(88): Show c.1082+2223_1082+2291delTACATGACCGCCAAACATGACGTGGA GACTGGAAAGGAGTCAGAGAACATCTAGAAATGACAAGTATGA		PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	8/8					INFO_REALIGN_3_PRIME	chr10	TogoVar
PPP2R3B_chrX_328933_391907	339546	GGGGGTGA others(62): Show GGGGGTGAGAGGGGAGGAGCCGGGGGGGGTGAGAGGGGAGGAGCCGGGGG GGGATGAGAGGGGAGGAGCC	G G	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0005 a0002c0004t0002g0005	1	25	0.0400	-69	c.135 others(86): Show c.1352-719_1352-651delGGCTCCTCCCCTCTCATCCCCCCCCGGC TCCTCCCCTCTCACCCCCCCCGGCTCCTCCCCTCTCACCCC		PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	10/12						chrX	TogoVar
PPP5C_chr19_46342087_46395975	46352968	GTGTACTA others(62): Show GTGTACTAAAGCCCTGCATGGCTCTGGTACATCACGGCCCCCAGTGGGGA CAAGCCTCTAAGGCTGTTTA	G G	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0079 a0001c0002t0002g0079	1	394	0.0025	-69	c.122 others(84): Show c.122-779_122-711delTGTACTAAAGCCCTGCATGGCTCTGGTACA TCACGGCCCCCAGTGGGGACAAGCCTCTAAGGCTGTTTA		PPP5C	ENSG00000011485.15	transcript	ENST00000012443.9	protein_coding	1/12						chr19	TogoVar
PPP6R2_chr22_50338327_50450090	50397763	GGGGGCCT others(62): Show GGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAG TGTGACTTGGGATGGGGGCA	G G	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18993.hp2 NA18971.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0054 a0001c0001t0006g0060 a0001c0001t0006g0054 a0001c0001t0006g0060	2	340	0.0059	-69	c.227 others(86): Show c.227+3633_227+3701delCCTGTCCTCACCAGCCTTGTCATCTCTG AGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGG		PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23					INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP6R2_chr22_50338327_50450090	50397861	CTCTGAGC others(62): Show CTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCC TGTCCTCACCAGCCTTGTCA	C C	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp1 HG01515.hp2 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0254 a0001c0001t0012g0266 a0001c0001t0012g0254 a0001c0001t0012g0266	2	340	0.0059	-69	c.227 others(86): Show c.227+3730_227+3798delGAGCTTTTCTCTGAGGAGTGTGACTTGG GATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCT		PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23					INFO_REALIGN_3_PRIME	chr22	TogoVar
PRDM13_chr6_99601833_99620562	99618899	CCCCTGGG others(62): Show CCCCTGGGCTCACAGCCTCGCGCTCCCTGGGCTCACAGCCTCGGGCTCCC TGGACTCACAGCCTCGCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0019 a0001c0001t0003g0019	1	442	0.0023	-69	c.41 others(80): Show c.4141_*4209delCCCTGGGCTCACAGCCTCGCGCTCCCTGGGCTCA CAGCCTCGGGCTCCCTGGACTCACAGCCTCGCCCT		PRDM13	ENSG00000112238.12	transcript	ENST00000369215.5	protein_coding					3338		chr6	TogoVar
PRDM13_chr6_99601833_99620562	99618942	GGCTCCCT others(62): Show GGCTCCCTGGACTCACAGCCTCGCCCTCCCTGGGCTCACAGCCTCGCGCT CCCTGGGCTCACAGCCTCGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00544.hp2 HG00558.hp2 others(47): Show HG00140.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01361.hp2 HG02071.hp1 HG02074.hp1 HG03239.hp1 HG03491.hp2 HG03492.hp1 HG03688.hp2 NA18940.hp2 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18961.hp2 NA18965.hp1 NA18967.hp1 NA18974.hp1 NA18975.hp2 NA18978.hp2 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18988.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp2 NA18998.hp1 NA18999.hp1 NA19003.hp1 NA19004.hp1 NA19006.hp1 NA19010.hp1 NA19057.hp1 NA19076.hp1 NA19076.hp2 NA19078.hp2 NA19082.hp2 NA19084.hp2 NA19086.hp2 NA19091.hp1 NA20129.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0018 a0001c0001 a0009c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0009c0018t0001	a0001c0001t0001g0004 a0001c0001t0001g0026 a0001c0001t0001g0042 others(5): Show a0001c0001t0001g0004 a0001c0001t0001g0026 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0002g0001 a0001c0001t0008g0004 a0009c0018t0001g0004	50	442	0.1131	-69	c.41 others(80): Show c.4184_*4252delGCTCCCTGGACTCACAGCCTCGCCCTCCCTGGGC TCACAGCCTCGCGCTCCCTGGGCTCACAGCCTCGC		PRDM13	ENSG00000112238.12	transcript	ENST00000369215.5	protein_coding					3381		chr6	TogoVar
PRKAG2_chr7_151551127_151882115	151711303	GAGTGCTA others(62): Show GAGTGCTAGGTTTAGAGTACTGAGGGTGCTAGGCTTAGAGTACTGAGGAT GCTAGGCTGAGAGTACTAAT	G G	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA20129.hp1 HG02083.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0018 a0001c0001t0002 a0001c0001t0018	a0001c0001t0002g0114 a0001c0001t0018g0007 a0001c0001t0002g0114 a0001c0001t0018g0007	2	252	0.0079	-69	c.467 others(88): Show c.467-35735_467-35667delATTAGTACTCTCAGCCTAGCATCCTC AGTACTCTAAGCCTAGCACCCTCAGTACTCTAAACCTAGCACT		PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	3/15						chr7	TogoVar
PRKCA_chr17_66297613_66815743	66798453	CGGTGGTG others(62): Show CGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGACGGTGGTGGTGGTG GTGGTGACGGTGGTGACGGT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02809.hp1 NA18943.hp2 HG02257.hp1 HG02809.hp1 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0035 a0001c0001t0079 a0001c0001t0027 a0001c0001t0035 a0001c0001t0079	a0001c0001t0027g0133 a0001c0001t0035g0177 a0001c0001t0079g0121 a0001c0001t0027g0133 a0001c0001t0035g0177 a0001c0001t0079g0121	3	178	0.0169	-69	c.185 others(88): Show c.1855-5412_1855-5344delGTGGTGGTGGTGGTGGTGGTGGTGGT GACGGTGGTGGTGGTGGTGGTGACGGTGGTGACGGTGGTGGTG		PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCA_chr17_66297613_66815743	66799476	TGGTGGTG others(62): Show TGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTAATGGTGGTG GTGATGGTGGTGGTAGTGAC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0168 a0001c0001t0065g0168	1	178	0.0056	-69	c.185 others(88): Show c.1855-4389_1855-4321delATGGTGGTGGTGGTGGTGGTGGTGGT GATGGTAATGGTGGTGGTGATGGTGGTGGTAGTGACGGTGGTG		PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCZ_chr1_2045411_2190395	2123840	TGGTTAGG others(62): Show TGGTTAGGGTTGTGGTGGTTAGGGTCACGGTGGCGGTTAGGGTCACGGCG GCGGTTAGGGTCACGGCGGC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	286	0.0035	-69	c.335 others(88): Show c.335-11412_335-11344delTGTGGTGGTTAGGGTCACGGTGGCGG TTAGGGTCACGGCGGCGGTTAGGGTCACGGCGGCGGTTAGGGT		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKD3_chr2_37245502_37329833	37249574	CACACACA others(62): Show CACACACACACACACACACACACACACACAGAGGGGAGATCGCTCCGTTG CACTGTAGCCTGTGATAGAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 NA20805.hp2 HG02602.hp1 NA20805.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0027 a0001c0009t0054 a0001c0009t0027 a0001c0009t0054	a0001c0009t0027g0376 a0001c0009t0054g0375 a0001c0009t0027g0376 a0001c0009t0054g0375	2	388	0.0052	-69	c.35 others(80): Show c.3534_*3602delCTCTATCACAGGCTACAGTGCAACGGAGCGATCT CCCCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGT		PRKD3	ENSG00000115825.11	transcript	ENST00000234179.8	protein_coding					927		chr2	TogoVar
PRR36_chr19_7863719_7879390	7870899	GTCTCCAG others(62): Show GTCTCCAGATGGGGTGTGGTCAGGGGAGCAGAAGCTGTCTGCAGAGGAGG CGGGGCTAGAGAAGGTAGGT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02809.hp2 NA19043.hp1 HG02809.hp2 NA19043.hp1	a0012 a0012	a0012c0016 a0012c0016	a0012c0016t0001 a0012c0016t0001	a0012c0016t0001g0020 a0012c0016t0001g0020	2	386	0.0052	-69	c.227 others(78): Show c.2276_2344delACCTACCTTCTCTAGCCCCGCCTCCTCTGCAGACAG CTTCTGCTCCCCTGACCACACCCCATCTGGAGA	p.Asn others(13): Show p.Asn759_Glu781del	PRR36	ENSG00000183248.12	transcript	ENST00000618550.5	protein_coding	5/6	2456/4467	2276/4041	759/1346			chr19	TogoVar
PRR36_chr19_7863719_7879390	7870908	TGGGGTGT others(62): Show TGGGGTGTGGTCAGGGGAGCAGAAGCTGTCTGCAGAGGAGGCGGGGCTAG AGAAGGTAGGTTCTCCAGAG	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(223): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp1 HG01070.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02148.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18747.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18947.hp2 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18974.hp2 NA18977.hp2 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19055.hp1 NA19057.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19070.hp2 NA19077.hp1 NA19080.hp1 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19087.hp2 NA19088.hp1 NA19089.hp1 NA19090.hp2 NA20129.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0002 a0003 a0004 others(19): Show a0002 a0003 a0004 a0006 a0007 a0008 a0014 a0016 a0018 a0025 a0026 a0027 a0028 a0029 a0030 a0031 a0032 a0035 a0036 a0037 a0038 a0039	a0002c0002 a0002c0019 a0003c0003 others(21): Show a0002c0002 a0002c0019 a0003c0003 a0004c0005 a0004c0006 a0006c0007 a0007c0010 a0008c0009 a0014c0013 a0016c0049 a0018c0036 a0025c0032 a0026c0034 a0027c0033 a0028c0030 a0029c0028 a0030c0029 a0031c0031 a0032c0027 a0035c0024 a0036c0047 a0037c0022 a0038c0021 a0039c0048	a0002c0002t0001 a0002c0002t0002 a0002c0019t0002 others(25): Show a0002c0002t0001 a0002c0002t0002 a0002c0019t0002 a0003c0003t0001 a0004c0005t0001 a0004c0006t0001 a0004c0006t0002 a0004c0006t0005 a0006c0007t0001 a0007c0010t0003 a0008c0009t0002 a0014c0013t0001 a0014c0013t0006 a0016c0049t0001 a0018c0036t0001 a0025c0032t0001 a0026c0034t0001 a0027c0033t0001 a0028c0030t0002 a0029c0028t0002 a0030c0029t0001 a0031c0031t0001 a0032c0027t0001 a0035c0024t0001 a0036c0047t0001 a0037c0022t0001 a0038c0021t0001 a0039c0048t0001	a0002c0002t0001g0004 a0002c0002t0001g0011 a0002c0002t0001g0061 others(29): Show a0002c0002t0001g0004 a0002c0002t0001g0011 a0002c0002t0001g0061 a0002c0002t0002g0003 a0002c0019t0002g0047 a0003c0003t0001g0002 a0003c0003t0001g0039 a0004c0005t0001g0006 a0004c0006t0001g0009 a0004c0006t0002g0007 a0004c0006t0005g0016 a0006c0007t0001g0008 a0007c0010t0003g0012 a0008c0009t0002g0022 a0008c0009t0002g0027 a0014c0013t0001g0048 a0014c0013t0006g0066 a0016c0049t0001g0038 a0018c0036t0001g0029 a0025c0032t0001g0054 a0026c0034t0001g0056 a0027c0033t0001g0055 a0028c0030t0002g0053 a0029c0028t0002g0052 a0030c0029t0001g0043 a0031c0031t0001g0044 a0032c0027t0001g0051 a0035c0024t0001g0026 a0036c0047t0001g0045 a0037c0022t0001g0042 a0038c0021t0001g0041 a0039c0048t0001g0046	226	386	0.5855	-69	c.226 others(78): Show c.2267_2335delCTCTGGAGAACCTACCTTCTCTAGCCCCGCCTCCTC TGCAGACAGCTTCTGCTCCCCTGACCACACCCC	p.Pro others(13): Show p.Pro756_Pro778del	PRR36	ENSG00000183248.12	transcript	ENST00000618550.5	protein_coding	5/6	2447/4467	2267/4041	756/1346			chr19	TogoVar
PRSS33_chr16_2778953_2792560	2787188	CTCCATCC others(62): Show CTCCATCCTCAGCCCCCTCCTCCTCACTCCCCTCCCTCATCCTCACCCCC TCCCTCATCCTCACCCCTGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01099.hp1 HG01106.hp1 others(6): Show HG00099.hp1 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01496.hp1 HG01981.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0044 a0001c0001t0001g0005 a0001c0001t0001g0044	9	386	0.0233	-69	c.-58 others(84): Show c.-58+276_-58+344delACAGGGGTGAGGATGAGGGAGGGGGTGAGG ATGAGGGAGGGGAGTGAGGAGGAGGGGGCTGAGGATGGA		PRSS33	ENSG00000103355.14	transcript	ENST00000682474.1	protein_coding	1/6						chr16	TogoVar
PSD3_chr8_18522303_19018703	18594271	TATATATT others(62): Show TATATATTATATAATATATATTATATATAATAATATATATTATTATATAT AATATATATTATAATATATA	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0033 a0005c0012t0033	a0005c0012t0033g0194 a0005c0012t0033g0194	1	228	0.0044	-69	c.248 others(88): Show c.2481+6024_2481+6092delTATATATTATAATATATATTATATAT AATAATATATATTATTATATATAATATATATTATATAATATAT		PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	12/15						chr8	TogoVar
PSME4_chr2_53859069_53975993	53868486	TATATATA others(62): Show TATATATATATGATATATATTATAAAATATATTTATAATATATATAATAT ATATTATAAATATATTTATA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00408.hp2 others(132): Show HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00621.hp2 HG00733.hp2 HG00735.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01515.hp1 HG01928.hp2 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02056.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02155.hp1 HG02155.hp2 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp2 HG03195.hp2 HG03239.hp1 HG03471.hp2 HG03490.hp1 HG03579.hp2 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18941.hp1 NA18943.hp2 NA18945.hp2 NA18948.hp1 NA18950.hp2 NA18952.hp2 NA18954.hp1 NA18959.hp1 NA18961.hp1 NA18962.hp2 NA18965.hp2 NA18967.hp1 NA18968.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp2 NA18975.hp1 NA18978.hp1 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18988.hp1 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA18995.hp2 NA18999.hp2 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19003.hp2 NA19006.hp1 NA19011.hp2 NA19043.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19058.hp1 NA19062.hp2 NA19063.hp2 NA19065.hp1 NA19067.hp1 NA19067.hp2 NA19070.hp2 NA19072.hp1 NA19075.hp1 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp2 NA19088.hp2 NA19091.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(4): Show a0001 a0002 a0005 a0006 a0007 a0008 a0016	a0001c0022 a0002c0002 a0002c0003 others(12): Show a0001c0022 a0002c0002 a0002c0003 a0002c0010 a0002c0015 a0002c0020 a0002c0021 a0002c0029 a0002c0032 a0002c0033 a0005c0011 a0006c0013 a0007c0012 a0008c0030 a0016c0014	a0001c0022t0016 a0002c0002t0002 a0002c0002t0004 others(17): Show a0001c0022t0016 a0002c0002t0002 a0002c0002t0004 a0002c0003t0002 a0002c0003t0004 a0002c0003t0008 a0002c0003t0010 a0002c0003t0011 a0002c0010t0002 a0002c0015t0002 a0002c0020t0002 a0002c0021t0002 a0002c0029t0002 a0002c0032t0004 a0002c0033t0002 a0005c0011t0002 a0006c0013t0002 a0007c0012t0002 a0008c0030t0002 a0016c0014t0002	a0001c0022t0016g0111 a0002c0002t0002g0022 a0002c0002t0002g0023 others(132): Show a0001c0022t0016g0111 a0002c0002t0002g0022 a0002c0002t0002g0023 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0047 a0002c0002t0002g0050 a0002c0002t0002g0054 a0002c0002t0002g0063 a0002c0002t0002g0065 a0002c0002t0002g0068 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0115 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0119 a0002c0002t0002g0120 a0002c0002t0002g0122 a0002c0002t0002g0124 a0002c0002t0002g0126 a0002c0002t0002g0129 a0002c0002t0002g0130 a0002c0002t0002g0131 a0002c0002t0002g0140 a0002c0002t0002g0141 a0002c0002t0002g0142 a0002c0002t0002g0143 a0002c0002t0002g0151 a0002c0002t0002g0153 a0002c0002t0002g0154 a0002c0002t0002g0355 a0002c0002t0002g0356 a0002c0002t0002g0357 a0002c0002t0002g0358 a0002c0002t0004g0048 a0002c0002t0004g0064 a0002c0002t0004g0096 a0002c0002t0004g0121 a0002c0002t0004g0123 a0002c0003t0002g0011 a0002c0003t0002g0016 a0002c0003t0002g0019 a0002c0003t0002g0020 a0002c0003t0002g0024 a0002c0003t0002g0049 a0002c0003t0002g0052 a0002c0003t0002g0055 a0002c0003t0002g0057 a0002c0003t0002g0059 a0002c0003t0002g0060 a0002c0003t0002g0061 a0002c0003t0002g0066 a0002c0003t0002g0069 a0002c0003t0002g0070 a0002c0003t0002g0071 a0002c0003t0002g0072 a0002c0003t0002g0074 a0002c0003t0002g0075 a0002c0003t0002g0076 a0002c0003t0002g0077 a0002c0003t0002g0078 a0002c0003t0002g0079 a0002c0003t0002g0081 a0002c0003t0002g0104 a0002c0003t0002g0105 a0002c0003t0002g0106 a0002c0003t0002g0107 a0002c0003t0002g0108 a0002c0003t0002g0109 a0002c0003t0002g0112 a0002c0003t0002g0113 a0002c0003t0002g0114 a0002c0003t0002g0127 a0002c0003t0002g0128 a0002c0003t0002g0132 a0002c0003t0002g0133 a0002c0003t0002g0134 a0002c0003t0002g0135 a0002c0003t0002g0136 a0002c0003t0002g0137 a0002c0003t0002g0138 a0002c0003t0002g0139 a0002c0003t0002g0144 a0002c0003t0002g0145 a0002c0003t0002g0146 a0002c0003t0002g0147 a0002c0003t0002g0148 a0002c0003t0002g0149 a0002c0003t0002g0150 a0002c0003t0002g0152 a0002c0003t0002g0297 a0002c0003t0002g0299 a0002c0003t0004g0340 a0002c0003t0008g0007 a0002c0003t0008g0008 a0002c0003t0010g0006 a0002c0003t0011g0009 a0002c0010t0002g0018 a0002c0010t0002g0051 a0002c0010t0002g0056 a0002c0015t0002g0359 a0002c0020t0002g0222 a0002c0021t0002g0110 a0002c0029t0002g0307 a0002c0032t0004g0374 a0002c0033t0002g0375 a0005c0011t0002g0363 a0006c0013t0002g0046 a0006c0013t0002g0073 a0007c0012t0002g0058 a0007c0012t0002g0062 a0008c0030t0002g0310 a0016c0014t0002g0067	135	384	0.3516	-69	c.526 others(86): Show c.5263+821_5263+889delTATAAATATATTTATAATATATATTATA TATATTATAAATATATTTTATAATATATATCATATATATAT		PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding	44/46						chr2	TogoVar
PTDSS2_chr11_445279_496399	487980	GGGGTGGG others(62): Show GGGGTGGGGGCTGCACGCACCCGTGGGCAGGGCCGGGCGTGGCCTGCGTC CCATACTCTGGCTGCCAGCC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(89): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp1 HG00642.hp1 HG00642.hp2 HG01069.hp2 HG01074.hp1 HG01074.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01255.hp1 HG01257.hp1 HG01261.hp2 HG01516.hp1 HG01517.hp2 HG01891.hp2 HG02015.hp2 HG02040.hp2 HG02056.hp2 HG02074.hp1 HG02109.hp1 HG02132.hp2 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp2 HG03453.hp2 HG03486.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03688.hp2 HG03834.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18945.hp1 NA18946.hp1 NA18951.hp2 NA18964.hp1 NA18967.hp1 NA18967.hp2 NA18978.hp1 NA18978.hp2 NA18984.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp1 NA19009.hp2 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19064.hp2 NA19074.hp1 NA19077.hp1 NA19079.hp1 NA19081.hp1 NA19083.hp2 NA20129.hp2 NA20300.hp1 NA20905.hp1 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0010 a0004c0007 a0001c0001 a0001c0010 a0004c0007	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0016 a0001c0010t0002 a0004c0007t0012	a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 others(84): Show a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0056 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0068 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0086 a0001c0001t0002g0088 a0001c0001t0002g0090 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0118 a0001c0001t0002g0199 a0001c0001t0002g0305 a0001c0001t0003g0007 a0001c0001t0003g0032 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0073 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0087 a0001c0001t0003g0089 a0001c0001t0003g0091 a0001c0001t0003g0112 a0001c0001t0007g0054 a0001c0001t0007g0059 a0001c0001t0007g0061 a0001c0001t0007g0063 a0001c0001t0009g0029 a0001c0001t0009g0055 a0001c0001t0009g0058 a0001c0001t0016g0104 a0001c0010t0002g0080 a0004c0007t0012g0307	92	346	0.2659	-69	c.622 others(84): Show c.622-175_622-107delTGCGTCCCATACTCTGGCTGCCAGCCGGGT GGGGGCTGCACGCACCCGTGGGCAGGGCCGGGCGTGGCC		PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	6/11					INFO_REALIGN_3_PRIME	chr11	TogoVar
PTK6_chr20_63523001_63542376	63535812	CCCCCTCC others(62): Show CCCCCTCCTCACCTGGCCTCCCGCCCCCCCCCTCACCTGGCCTCCCGCCC CCTCCTCACCTGGCCTCCCG	C C	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0059 a0001c0001t0015g0059	1	344	0.0029	-69	c.231 others(84): Show c.231-822_231-754delCGGGAGGCCAGGTGAGGAGGGGGCGGGAGG CCAGGTGAGGGGGGGGGCGGGAGGCCAGGTGAGGAGGGG		PTK6	ENSG00000101213.7	transcript	ENST00000542869.3	protein_coding	1/7						chr20	TogoVar
PTK6_chr20_63523001_63542376	63535835	CCCCCCCC others(62): Show CCCCCCCCCTCACCTGGCCTCCCGCCCCCTCCTCACCTGGCCTCCCGCCC CCTCCTCACCTGGCCTCCCG	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02572.hp2 HG02630.hp1 others(4): Show HG02258.hp1 HG02572.hp2 HG02630.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0004 a0001c0003t0011 a0001c0004t0005 a0001c0003t0004 a0001c0003t0011 a0001c0004t0005	a0001c0003t0004g0015 a0001c0003t0004g0077 a0001c0003t0011g0078 others(3): Show a0001c0003t0004g0015 a0001c0003t0004g0077 a0001c0003t0011g0078 a0001c0004t0005g0206 a0001c0004t0005g0211 a0001c0004t0005g0212	7	344	0.0204	-69	c.231 others(84): Show c.231-845_231-777delCGGGAGGCCAGGTGAGGAGGGGGCGGGAGG CCAGGTGAGGAGGGGGCGGGAGGCCAGGTGAGGGGGGGG		PTK6	ENSG00000101213.7	transcript	ENST00000542869.3	protein_coding	1/7						chr20	TogoVar
RAB14_chr9_121173133_121206869	121205240	AGACATGG others(62): Show AGACATGGGAGGGAAGTCAGCCTTTAGGGAAATTGTAATGTCATGGAAAG AGACGCCTTCTTTCTGTCCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	384	0.0026	-69	c.-36 others(80): Show c.-3678_-3610delGGGACAGAAAGAAGGCGTCTCTTTCCATGACATT ACAATTTCCCTAAAGGCTGACTTCCCTCCCATGTC		RAB14	ENSG00000119396.12	transcript	ENST00000373840.9	protein_coding					3372		chr9	TogoVar
RAB40C_chr16_585066_634268	611746	GGCCTGTA others(62): Show GGCCTGTAGATTCAAGAGCAGGGACAGCCGCCCTGGCCTGTAGAATCAAG AGCAAGGGACAGCCGCCTTC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00673.hp2 HG00741.hp1 others(48): Show HG00280.hp1 HG00673.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01099.hp1 HG01109.hp1 HG01255.hp2 HG01261.hp2 HG01943.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp1 HG02040.hp2 HG02071.hp1 HG02148.hp2 HG02683.hp2 HG02735.hp2 HG03225.hp1 HG03239.hp1 HG03490.hp1 HG03491.hp2 HG03654.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03942.hp1 HG04199.hp2 HG04204.hp2 NA18612.hp1 NA18950.hp1 NA18954.hp1 NA18961.hp1 NA18964.hp1 NA18966.hp2 NA18969.hp2 NA18981.hp1 NA18981.hp2 NA18985.hp2 NA18986.hp2 NA18988.hp1 NA18997.hp2 NA19000.hp1 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19064.hp1 NA19066.hp2 NA19077.hp1 NA19079.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0011 a0001c0001t0002 a0001c0001t0009 a0001c0001t0011	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0015 others(47): Show a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0245 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0256 a0001c0001t0002g0259 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0272 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0303 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0315 a0001c0001t0002g0325 a0001c0001t0009g0317 a0001c0001t0011g0302	51	350	0.1457	-69	c.143 others(86): Show c.143-5452_143-5384delTTCAAGAGCAGGGACAGCCGCCCTGGCC TGTAGAATCAAGAGCAAGGGACAGCCGCCTTCGCCTGTAGA		RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr16	TogoVar
RASA3_chr13_113972783_114137623	114119869	CTCCCTCT others(62): Show CTCCCTCTCTCCAGCCAGGCGTCGATCAGGGCCCCCCTCCCCTCTCCAGC CAGGCGTCGATCAGGGCCCT	C C	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	67	0.0149	-69	c.55+ others(86): Show c.55+12497_55+12565delAGGGCCCTGATCGACGCCTGGCTGGAGA GGGGAGGGGGGCCCTGATCGACGCCTGGCTGGAGAGAGGGA		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23						chr13	TogoVar
RBFOX1_chr16_6014024_7718340	6800189	AAAACAAG others(62): Show AAAACAAGTCTTGCTGTTTTCCTGCCTCATAACCATGTCTGTTTGCCCAA GACTGTCCCAGTTTTAGCAC	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03579.hp2 NA18522.hp2 HG03209.hp1 HG03579.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0026 a0001c0001t0001 a0001c0001t0003 a0001c0001t0026	a0001c0001t0001g0020 a0001c0001t0003g0050 a0001c0001t0026g0051 a0001c0001t0001g0020 a0001c0001t0003g0050 a0001c0001t0026g0051	3	68	0.0441	-69	c.-16 others(90): Show c.-16+145540_-16+145608delAAACAAGTCTTGCTGTTTTCCTGC CTCATAACCATGTCTGTTTGCCCAAGACTGTCCCAGTTTTAGCAC		RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	3/15						chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7504730	TATATATA others(62): Show TATATATATATATATATATATATATTTATATATATATATATTTATATATA TATATATTTATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0060 a0001c0004t0001g0060	1	68	0.0147	-69	c.28- others(86): Show c.28-13416_28-13348delATATATATATATATATATATATATTTAT ATATATATATATTTATATATATATATATTTATATATATATA		RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15						chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7504730	TATATATA others(62): Show TATATATATATATATATATATATATTTATATATATATATATTTATATATA TATATATTTATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03927.hp2 HG02683.hp2 HG03927.hp2	a0001 a0001	a0001c0003 a0001c0033 a0001c0003 a0001c0033	a0001c0003t0004 a0001c0033t0002 a0001c0003t0004 a0001c0033t0002	a0001c0003t0004g0142 a0001c0033t0002g0067 a0001c0003t0004g0142 a0001c0033t0002g0067	2	234	0.0086	-69	c.88- others(86): Show c.88-13416_88-13348delATATATATATATATATATATATATTTAT ATATATATATATTTATATATATATATATTTATATATATATA		RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	1/13						chr16	TogoVar
RIBC2_chr22_45408693_45437509	45421490	TTATTATT others(62): Show TTATTATTATTAATAATAGTATTATTAATAATAATAATAGTATTATTAAT AATATTAATAATAATAATAG	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp2 HG00609.hp1 others(55): Show HG00408.hp1 HG00597.hp2 HG00609.hp1 HG01123.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01928.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG02004.hp2 HG02027.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02132.hp2 HG02155.hp2 HG02165.hp1 HG02280.hp1 HG02451.hp2 HG02602.hp2 HG02698.hp1 HG02738.hp1 HG02818.hp1 HG02976.hp2 HG03017.hp1 HG03130.hp2 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp2 HG06807.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp2 NA18952.hp2 NA18957.hp1 NA18970.hp1 NA18977.hp2 NA18983.hp2 NA19043.hp1 NA19054.hp2 NA19056.hp1 NA19068.hp2 NA19074.hp2 NA19076.hp1 NA19079.hp2 NA20300.hp2 NA20905.hp1	a0001 a0007 a0012 a0001 a0007 a0012	a0001c0001 a0007c0008 a0012c0016 a0001c0001 a0007c0008 a0012c0016	a0001c0001t0001 a0001c0001t0002 a0007c0008t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0007c0008t0001 a0012c0016t0001	a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0021 others(22): Show a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0028 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0002g0071 a0007c0008t0001g0002 a0012c0016t0001g0002	58	424	0.1368	-69	c.557 others(84): Show c.557-791_557-723delTTAATAATAGTATTATTAATAATAATAATA GTATTATTAATAATATTAATAATAATAATAGTATTATTA		RIBC2	ENSG00000128408.9	transcript	ENST00000614167.2	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
RNF150_chr4_140854807_141138469	140999942	AAAGAAGA others(62): Show AAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAAAGAAGAAAAGAAG AAAAGAAGAAGAAGAAGAAG	A A	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18943.hp1 NA18970.hp2 others(1): Show NA18941.hp1 NA18943.hp1 NA18970.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0017 a0001c0001t0027 a0001c0001t0006 a0001c0001t0017 a0001c0001t0027	a0001c0001t0006g0042 a0001c0001t0006g0125 a0001c0001t0017g0087 others(1): Show a0001c0001t0006g0042 a0001c0001t0006g0125 a0001c0001t0017g0087 a0001c0001t0027g0108	4	184	0.0217	-69	c.485 others(88): Show c.485-32138_485-32070delCTTCTTCTTCTTCTTCTTTTCTTCTT TTCTTCTTTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT		RNF150	ENSG00000170153.11	transcript	ENST00000515673.7	protein_coding	1/6						chr4	TogoVar
RNF213_chr17_80255852_80403794	80314329	TGGTGGTG others(62): Show TGGTGGTGGTGGTGGTGGTGGAGGTACTGGAGGTGATGGCGGTCGTGGAG GTGATGGTGGAGGTAATGGA	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01167.hp2 HG01169.hp1	a0032 a0032	a0032c0022 a0032c0022	a0032c0022t0006 a0032c0022t0012 a0032c0022t0006 a0032c0022t0012	a0032c0022t0006g0169 a0032c0022t0012g0170 a0032c0022t0006g0169 a0032c0022t0012g0170	2	292	0.0069	-69	c.281 others(88): Show c.2811+1183_2811+1251delAGGTACTGGAGGTGATGGCGGTCGTG GAGGTGATGGTGGAGGTAATGGAGGTGGTGGTGGTGGTGGTGG		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80314484	CTGGAGGT others(62): Show CTGGAGGTGATGGTGGTGGTGGTGGAGGTAATGGAGGTGATGGTGGTGGT GAAGGTGATGGTGGAGGTAA	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0036 a0036	a0036c0144 a0036c0144	a0036c0144t0003 a0036c0144t0003	a0036c0144t0003g0173 a0036c0144t0003g0173	1	292	0.0034	-69	c.281 others(88): Show c.2811+1342_2811+1410delAGGTAATGGAGGTGATGGTGGTGGTG AAGGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGTGG		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80314906	ACTGGAGG others(62): Show ACTGGAGGTGATGGTGGTGGTGAAGGTGTTGGTGGAGGTACTGGAGGTGA TGGTGGTCGTGTAGGTGATG	A A	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0032 a0032	a0032c0022 a0032c0022	a0032c0022t0006 a0032c0022t0006	a0032c0022t0006g0169 a0032c0022t0006g0169	1	292	0.0034	-69	c.281 others(88): Show c.2811+1740_2811+1808delCTGGAGGTGATGGTGGTGGTGAAGGT GTTGGTGGAGGTACTGGAGGTGATGGTGGTCGTGTAGGTGATG		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67						chr17	TogoVar
RNF213_chr17_80255852_80403794	80315165	ATGGAGGT others(62): Show ATGGAGGTGATGGTGGTGGACGTGATGGTGGAGGTAATGGAGGTGATGGT GGTGGTGGTGGTGGAGGTAC	A A	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0072 a0072	a0072c0067 a0072c0067	a0072c0067t0008 a0072c0067t0008	a0072c0067t0008g0206 a0072c0067t0008g0206	1	292	0.0034	-69	c.281 others(88): Show c.2812-1954_2812-1886delCTGGAGGTGATGGTGGTGGACGTGAT GGTGGAGGTAATGGAGGTGATGGTGGTGGTGGTGGTGGAGGTA		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80315253	ACGTGATG others(62): Show ACGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGTGGTGGAGGTA ATGGAGGTGATGGTGGTGGT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01168.hp2 HG01169.hp1 others(3): Show HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG06807.hp1 NA19030.hp2	a0011 a0032 a0011 a0032	a0011c0036 a0011c0037 a0032c0022 a0011c0036 a0011c0037 a0032c0022	a0011c0036t0042 a0011c0036t0043 a0011c0037t0020 others(2): Show a0011c0036t0042 a0011c0036t0043 a0011c0037t0020 a0032c0022t0006 a0032c0022t0012	a0011c0036t0042g0281 a0011c0036t0043g0280 a0011c0037t0020g0282 others(3): Show a0011c0036t0042g0281 a0011c0036t0043g0280 a0011c0037t0020g0282 a0011c0037t0020g0283 a0032c0022t0006g0169 a0032c0022t0012g0170	6	292	0.0206	-69	c.281 others(88): Show c.2812-1934_2812-1866delCGTGATGGTGGAGGTAATGGAGGTGA TGGTGGTGGTGGTGGTGGAGGTAATGGAGGTGATGGTGGTGGT		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67						chr17	TogoVar
ROBO1_chr3_78592239_79772998	79760749	TAAGAGAT others(62): Show TAAGAGATTATACAGTTTGTCTTAAAAAATGGTCTTTAATTCTGGCTAAA CATAATTACAAATTATGTAA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01243.hp1 HG01243.hp2 others(25): Show HG01109.hp2 HG01243.hp1 HG01243.hp2 HG01884.hp2 HG01978.hp1 HG01978.hp2 HG02055.hp1 HG02055.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02717.hp1 HG02717.hp2 HG02922.hp2 HG03041.hp1 HG03130.hp2 HG03139.hp2 HG03225.hp1 HG03486.hp1 HG03490.hp1 HG03579.hp1 HG03579.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0008 a0002c0004 a0003c0006 a0003c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0013 a0001c0002t0016 a0001c0003t0001 a0001c0003t0006 a0001c0005t0005 a0001c0007t0003 a0001c0008t0015 a0002c0004t0001 a0002c0004t0007 a0003c0006t0006 a0003c0009t0017	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 others(25): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0002g0007 a0001c0001t0005g0005 a0001c0001t0008g0024 a0001c0001t0009g0006 a0001c0001t0014g0041 a0001c0002t0001g0020 a0001c0002t0003g0016 a0001c0002t0004g0001 a0001c0002t0004g0002 a0001c0002t0004g0017 a0001c0002t0004g0021 a0001c0002t0013g0008 a0001c0002t0016g0044 a0001c0003t0001g0023 a0001c0003t0006g0018 a0001c0005t0005g0004 a0001c0007t0003g0003 a0001c0008t0015g0043 a0002c0004t0001g0015 a0002c0004t0007g0009 a0002c0004t0007g0010 a0003c0006t0006g0011 a0003c0009t0017g0042	28	44	0.6364	-69	c.-51 others(86): Show c.-51+6934_-51+7002delTTACATAATTTGTAATTATGTTTAGCCA GAATTAAAGACCATTTTTTAAGACAAACTGTATAATCTCTT		ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	1/30						chr3	TogoVar
ROBO2_chr3_77035099_77654964	77317708	TGCTGCTG others(62): Show TGCTGCTGGGGGGCTGCTAGGGGGGCTGCTGGGGGGGCTGCTGGGGGGCT GCTGGGGGGCTGCTAGGGGC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02486.hp2 HG02896.hp2 others(8): Show HG02109.hp1 HG02486.hp2 HG02896.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA19030.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0005c0013	a0001c0001t0005 a0001c0001t0028 a0001c0002t0002 others(7): Show a0001c0001t0005 a0001c0001t0028 a0001c0002t0002 a0001c0002t0011 a0001c0002t0015 a0001c0002t0024 a0001c0003t0002 a0001c0003t0019 a0001c0008t0001 a0005c0013t0005	a0001c0001t0005g0051 a0001c0001t0028g0084 a0001c0002t0002g0002 others(8): Show a0001c0001t0005g0051 a0001c0001t0028g0084 a0001c0002t0002g0002 a0001c0002t0011g0047 a0001c0002t0015g0012 a0001c0002t0015g0013 a0001c0002t0024g0001 a0001c0003t0002g0104 a0001c0003t0019g0111 a0001c0008t0001g0005 a0005c0013t0005g0106	11	160	0.0688	-69	c.389 others(90): Show c.389-159637_389-159569delCGCTGCTGGGGGGCTGCTAGGGGG GCTGCTGGGGGGGCTGCTGGGGGGCTGCTGGGGGGCTGCTAGGGG		ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27					INFO_REALIGN_3_PRIME	chr3	TogoVar
RORA_chr15_60483284_61234302	60496060	AACTGGTT others(62): Show AACTGGTTCAACATTGTATGCTTCCCTCACCCTCCTATCCATCGTTTTTC AAATATGGAGAGCAACATTC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0020 a0001c0001t0023g0020	1	118	0.0085	-69	c.13 others(80): Show c.1326_*1394delGAATGTTGCTCTCCATATTTGAAAAACGATGGAT AGGAGGGTGAGGGAAGCATACAATGTTGAACCAGT		RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	11/11				1326		chr15	TogoVar
RORA_chr15_60483284_61234302	60597548	CAACATAT others(62): Show CAACATATATATATATATATATATATACACATATATATATATATATACAC ATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0026 a0001c0001t0018g0026	1	118	0.0085	-69	c.197 others(88): Show c.197-65766_197-65698delATATATATATATATATATATGTGTAT ATATATATATATATGTGTATATATATATATATATATATATGTT		RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	2/10						chr15	TogoVar

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