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 haplotype class

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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RBM5_chr3_50083919_50124021	50084908	G G	GCTGGACG others(43): Show GCTGGACGGGGTGGCTGGCCGGGCGGGGGGGCTGATCCCCCCACCTCCCT C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	284	0.0035	50	c.-41 others(61): Show c.-4175_-4174insCTGGACGGGGTGGCTGGCCGGGCGGGGGGGCTGA TCCCCCCACCTCCCTC	RBM5	ENSG00000003756.17	transcript	ENST00000347869.8	protein_coding		4010		chr3	TogoVar
RBM5_chr3_50083919_50124021	50084941	A A	ATCCCCCC others(43): Show ATCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCTGA C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG03927.hp2 HG04184.hp1 HG00597.hp2 HG03927.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0075 a0001c0001t0001g0086 a0001c0001t0001g0069 a0001c0001t0001g0075 a0001c0001t0001g0086	3	284	0.0106	50	c.-41 others(61): Show c.-4142_-4141insTCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGC CAGGCGGGGGGCTGAC	RBM5	ENSG00000003756.17	transcript	ENST00000347869.8	protein_coding		3977		chr3	TogoVar
RBMS3_chr3_29276071_30015386	29472992	G G	GACACAAA others(43): Show GACACAAAAGTTCTCCACCTCCCCACCAGATTAGCTAGATACAGAGTGTC C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00673.hp1 others(47): Show HG00408.hp1 HG00408.hp2 HG00673.hp1 HG00673.hp2 HG01071.hp1 HG01071.hp2 HG01106.hp2 HG01169.hp1 HG01261.hp1 HG01361.hp1 HG01361.hp2 HG01515.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01981.hp1 HG01993.hp2 HG02040.hp1 HG02083.hp1 HG02155.hp1 HG02258.hp2 HG02451.hp2 HG02559.hp1 HG02622.hp2 HG02630.hp1 HG02895.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18944.hp1 NA18944.hp2 NA18957.hp1 NA18982.hp2 NA18994.hp2 NA19009.hp2 NA19240.hp1 NA19240.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(43): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0017 a0001c0001t0022 a0001c0001t0023 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0032 a0001c0001t0033 a0001c0001t0035 a0001c0001t0036 a0001c0001t0042 a0001c0001t0052 a0001c0001t0069 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0077 a0001c0001t0079 a0001c0001t0082 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0002t0010 a0001c0002t0031 a0001c0002t0039 a0001c0002t0041 a0001c0002t0046 a0001c0002t0047 a0001c0002t0050 a0001c0002t0053 a0001c0002t0081 a0001c0002t0084 a0001c0002t0086 a0001c0003t0009	a0001c0001t0001g0042 a0001c0001t0002g0049 a0001c0001t0002g0050 others(47): Show a0001c0001t0001g0042 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0003g0089 a0001c0001t0004g0099 a0001c0001t0004g0100 a0001c0001t0005g0003 a0001c0001t0006g0063 a0001c0001t0010g0097 a0001c0001t0011g0037 a0001c0001t0012g0004 a0001c0001t0012g0036 a0001c0001t0015g0029 a0001c0001t0015g0051 a0001c0001t0017g0077 a0001c0001t0022g0093 a0001c0001t0023g0054 a0001c0001t0026g0113 a0001c0001t0028g0040 a0001c0001t0029g0116 a0001c0001t0032g0115 a0001c0001t0033g0043 a0001c0001t0035g0105 a0001c0001t0036g0048 a0001c0001t0042g0096 a0001c0001t0052g0024 a0001c0001t0069g0001 a0001c0001t0071g0080 a0001c0001t0072g0073 a0001c0001t0073g0070 a0001c0001t0074g0031 a0001c0001t0075g0060 a0001c0001t0077g0057 a0001c0001t0079g0111 a0001c0001t0082g0032 a0001c0002t0001g0044 a0001c0002t0004g0092 a0001c0002t0005g0007 a0001c0002t0010g0095 a0001c0002t0031g0039 a0001c0002t0039g0091 a0001c0002t0041g0104 a0001c0002t0046g0107 a0001c0002t0047g0038 a0001c0002t0050g0025 a0001c0002t0053g0011 a0001c0002t0081g0017 a0001c0002t0084g0018 a0001c0002t0086g0068 a0001c0003t0009g0041	50	116	0.4310	50	c.249 others(69): Show c.249-15442_249-15441insAGTTCTCCACCTCCCCACCAGATTAG CTAGATACAGAGTGTCCACACAAA	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMS3_chr3_29276071_30015386	29472992	G G	GACACAAA others(43): Show GACACAAAGGTTCTCCACGTCCCCATCAGATTAGTTAGATACAGAGTGTC C	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0064 a0001c0001t0016g0064	1	116	0.0086	50	c.249 others(69): Show c.249-15420_249-15419insTTAGTTAGATACAGAGTGTCCACACA AAGGTTCTCCACGTCCCCATCAGA	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RCBTB2_chr13_48483963_48538080	48527356	T T	TCATATAT others(43): Show TCATATATATATATATATATGATATATATATATATGATATATATATATAT G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0054	1	320	0.0031	50	c.-21 others(69): Show c.-218-2600_-218-2599insCATATATATATATATCATATATATAT ATATCATATATATATATATATATG	RCBTB2	ENSG00000136161.13	transcript	ENST00000344532.8	protein_coding	1/14			chr13	TogoVar
RCHY1_chr4_75474033_75519403	75487617	T T	TATATATA others(43): Show TATATATATTCATATATATTCATAATATATATATTCATAATATATATATT C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02895.hp1 HG02896.hp1 others(1): Show HG02145.hp1 HG02895.hp1 HG02896.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0020 a0001c0001t0007g0241 a0001c0001t0007g0020 a0001c0001t0007g0241	4	406	0.0099	50	c.657 others(67): Show c.657+2963_657+2964insGAATATATATATTATGAATATATATATT ATGAATATATATGAATATATAT	RCHY1	ENSG00000163743.14	transcript	ENST00000324439.10	protein_coding	8/8			chr4	TogoVar
RCHY1_chr4_75474033_75519403	75487682	T T	TATATATT others(43): Show TATATATTCATATATATATATTCATAATATATATTCATATATATATTCAT A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02258.hp1 HG02965.hp1 others(1): Show HG01243.hp1 HG02258.hp1 HG02965.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0074 a0001c0001t0003g0081 a0001c0001t0003g0121 others(1): Show a0001c0001t0003g0074 a0001c0001t0003g0081 a0001c0001t0003g0121 a0001c0001t0003g0136	4	406	0.0099	50	c.657 others(67): Show c.657+2898_657+2899insTATGAATATATATATGAATATATATTAT GAATATATATATATGAATATAT	RCHY1	ENSG00000163743.14	transcript	ENST00000324439.10	protein_coding	8/8			chr4	TogoVar
REM1_chr20_31470288_31489895	31470649	C C	CGGGGGGC others(43): Show CGGGGGGCTGACCCCCCCCACCTCCCTCCTGGACAGGGCGGCTGGCCGGG T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0038 a0002c0002t0003g0038	1	344	0.0029	50	c.-49 others(61): Show c.-4937_-4936insGGGGGGCTGACCCCCCCCACCTCCCTCCTGGACA GGGCGGCTGGCCGGGT	REM1	ENSG00000088320.4	transcript	ENST00000201979.3	protein_coding		4638		chr20	TogoVar
REM1_chr20_31470288_31489895	31471355	C C	CGGGGGGC others(43): Show CGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0007 a0002c0003t0001g0007	1	344	0.0029	50	c.-42 others(61): Show c.-4231_-4230insGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCG	REM1	ENSG00000088320.4	transcript	ENST00000201979.3	protein_coding		3932		chr20	TogoVar
REPS2_chrX_16941658_17158272	17050196	T T	TTCTTTCT others(43): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT C	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0097 a0001c0001t0002g0097	1	166	0.0060	50	c.908 others(67): Show c.908-2185_908-2184insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCT	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
RERE_chr1_8347404_8822640	8501386	G G	GGTCAGCC others(43): Show GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG A	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0123 a0001c0004t0005g0123	1	204	0.0049	50	c.880 others(67): Show c.880-3858_880-3857insTCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCTGAC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	8/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8501386	G G	GTCAGCCC others(43): Show GTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG A	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0021 a0001c0003t0004g0021	1	204	0.0049	50	c.880 others(67): Show c.880-3858_880-3857insTCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGGCTGA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	8/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8501881	C C	CAGGTGGG others(43): Show CAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGG G	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG02280.hp2 HG03669.hp2 HG01515.hp2 HG02280.hp2 HG03669.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0002t0035 a0001c0003t0015 a0001c0002t0002 a0001c0002t0035 a0001c0003t0015	a0001c0002t0002g0171 a0001c0002t0035g0160 a0001c0003t0015g0147 a0001c0002t0002g0171 a0001c0002t0035g0160 a0001c0003t0015g0147	3	204	0.0147	50	c.880 others(67): Show c.880-4402_880-4353dupCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCCACCT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	8/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8501886	G G	GGGGGGGG others(43): Show GGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGG T	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0010 a0001c0004t0010	a0001c0004t0010g0142 a0001c0004t0010g0142	1	204	0.0049	50	c.880 others(67): Show c.880-4358_880-4357insACCTCCCTCCCGGATGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	8/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8501886	G G	GGGGGGGG others(43): Show GGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG T	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01496.hp2 HG03654.hp1 others(3): Show HG01192.hp2 HG01496.hp2 HG03654.hp1 HG04199.hp2 NA18944.hp1 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0002t0002 a0001c0001t0001 a0001c0001t0006 a0001c0002t0002	a0001c0001t0001g0013 a0001c0001t0001g0055 a0001c0001t0001g0062 others(3): Show a0001c0001t0001g0013 a0001c0001t0001g0055 a0001c0001t0001g0062 a0001c0001t0006g0184 a0001c0002t0002g0158 a0001c0002t0002g0176	6	204	0.0294	50	c.880 others(67): Show c.880-4358_880-4357insACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	8/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8501935	T T	TGGGGGGG others(43): Show TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT G	intron_variant intron_variant	MODIFIER	HG03831.hp2 NA18967.hp1 HG03831.hp2 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0075 a0001c0001t0001g0067 a0001c0001t0001g0075	2	204	0.0098	50	c.880 others(67): Show c.880-4407_880-4406insCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	8/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8502161	T T	TGGGGGGG others(43): Show TGGGGGGGGCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGT G	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0009 a0001c0015t0001g0009	1	204	0.0049	50	c.880 others(67): Show c.880-4633_880-4632insCACCTCCCTCCCGGATGGGGCGGCTGGC CGGGCGGGGGGCTGCCCCCCCC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	8/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8502161	T T	TGGGGGGG others(43): Show TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGT G	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG06807.hp2 NA20129.hp2 HG03130.hp2 HG06807.hp2 NA20129.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0016 a0001c0003 a0001c0005 a0001c0016	a0001c0003t0011 a0001c0005t0019 a0001c0016t0020 a0001c0003t0011 a0001c0005t0019 a0001c0016t0020	a0001c0003t0011g0108 a0001c0005t0019g0030 a0001c0016t0020g0001 a0001c0003t0011g0108 a0001c0005t0019g0030 a0001c0016t0020g0001	3	204	0.0147	50	c.880 others(67): Show c.880-4633_880-4632insCACCTCCCTCCCGGATGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	8/22			chr1	TogoVar
REST_chr4_56902900_56940844	56905347	T T	TATATATA others(43): Show TATATATATATATATATATATATATATATATATATATATATATATATATA A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00438.hp2 others(18): Show HG00423.hp1 HG00423.hp2 HG00438.hp2 HG01168.hp2 HG01255.hp1 HG02129.hp2 HG02970.hp2 HG03209.hp1 HG03579.hp2 NA18944.hp1 NA18945.hp1 NA18952.hp1 NA18954.hp1 NA18957.hp1 NA18960.hp1 NA18961.hp1 NA18973.hp1 NA18999.hp2 NA19009.hp2 NA19062.hp2 NA19081.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0002 a0001c0001t0004 a0002c0002t0001 others(3): Show a0001c0001t0002 a0001c0001t0004 a0002c0002t0001 a0002c0002t0007 a0002c0002t0012 a0003c0003t0002	a0001c0001t0002g0110 a0001c0001t0004g0079 a0002c0002t0001g0010 others(18): Show a0001c0001t0002g0110 a0001c0001t0004g0079 a0002c0002t0001g0010 a0002c0002t0001g0012 a0002c0002t0001g0240 a0002c0002t0001g0243 a0002c0002t0001g0257 a0002c0002t0001g0282 a0002c0002t0001g0289 a0002c0002t0001g0303 a0002c0002t0001g0306 a0002c0002t0001g0307 a0002c0002t0007g0011 a0002c0002t0007g0271 a0002c0002t0012g0260 a0003c0003t0002g0001 a0003c0003t0002g0008 a0003c0003t0002g0031 a0003c0003t0002g0112 a0003c0003t0002g0116 a0003c0003t0002g0124	21	408	0.0515	50	c.-28 others(61): Show c.-2876_-2875insATATATATATATATATATATATATATATATATAT ATATATATATATATAA	REST	ENSG00000084093.19	transcript	ENST00000309042.12	protein_coding		2552		chr4	TogoVar
REV3L_chr6_111294033_111488218	111422613	C C	CATATATA others(43): Show CATATATATATATATACACATATATATATATATACACATATATATATATA T	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0001 a0010c0012t0001	a0010c0012t0001g0036 a0010c0012t0001g0036	1	288	0.0035	50	c.140 others(67): Show c.140-6142_140-6141insATATATATATATATGTGTATATATATAT ATATGTGTATATATATATATAT	REV3L	ENSG00000009413.17	transcript	ENST00000368802.8	protein_coding	1/31			chr6	TogoVar
RFC3_chr13_33813149_33842500	33831572	T T	TAATGATA others(43): Show TAATGATATTACATGTAAATGATATTACATGTAAATGATATTACATGTAA A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00609.hp1 others(147): Show HG00408.hp2 HG00423.hp2 HG00609.hp1 HG00621.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp2 HG01069.hp1 HG01070.hp1 HG01074.hp2 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp2 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02056.hp1 HG02071.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18942.hp2 NA18943.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp2 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp2 NA18967.hp2 NA18968.hp1 NA18971.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp2 NA18989.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18993.hp2 NA18999.hp1 NA19000.hp1 NA19001.hp2 NA19004.hp2 NA19006.hp2 NA19010.hp1 NA19012.hp2 NA19054.hp2 NA19055.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19066.hp1 NA19068.hp2 NA19070.hp2 NA19072.hp2 NA19078.hp2 NA19082.hp1 NA19084.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp2 NA20129.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010	a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0014 others(80): Show a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0117 a0001c0001t0002g0158 a0001c0001t0005g0042 a0001c0001t0005g0082 a0001c0001t0008g0122 a0001c0001t0010g0016	150	416	0.3606	50	c.809 others(65): Show c.809+218_809+219insAATGATATTACATGTAAATGATATTACATG TAAATGATATTACATGTAAA	RFC3	ENSG00000133119.13	transcript	ENST00000380071.8	protein_coding	7/8			chr13	TogoVar
RFLNA_chr12_124290093_124321024	124296072	T T	TTTTCTTT others(43): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTT C	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0049 a0001c0001t0011g0049	1	388	0.0026	50	c.207 others(65): Show c.207+469_207+470insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFLNA_chr12_124290093_124321024	124296124	C C	CTTTCTTT others(43): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCT T	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG03669.hp2 NA18969.hp2 others(1): Show HG02083.hp2 HG03669.hp2 NA18969.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0003 a0001c0001t0006 a0001c0002t0003	a0001c0001t0006g0202 a0001c0002t0003g0203 a0001c0002t0003g0204 others(1): Show a0001c0001t0006g0202 a0001c0002t0003g0203 a0001c0002t0003g0204 a0001c0002t0003g0205	4	388	0.0103	50	c.207 others(65): Show c.207+489_207+490insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTCTCTCTCTCTCTTT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFLNA_chr12_124290093_124321024	124296124	C C	CTTTCTTT others(43): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT T	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA18948.hp1 NA20905.hp2 HG02818.hp2 NA18948.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0024 a0001c0002t0020 a0001c0001t0001 a0001c0001t0024 a0001c0002t0020	a0001c0001t0001g0211 a0001c0001t0024g0209 a0001c0002t0020g0208 a0001c0001t0001g0211 a0001c0001t0024g0209 a0001c0002t0020g0208	3	388	0.0077	50	c.207 others(65): Show c.207+489_207+490insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFLNA_chr12_124290093_124321024	124296124	C C	CTTTCTTT others(43): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTCTCTCTCTCT T	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03098.hp2 NA19043.hp1 HG02818.hp1 HG03098.hp2 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0014 a0001c0002t0002 a0001c0003t0014	a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0003t0014g0071 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0003t0014g0071	3	388	0.0077	50	c.207 others(65): Show c.207+489_207+490insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT TTCTTTCTCTCTCTCTCTTT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFLNA_chr12_124290093_124321024	124296190	T T	TTTCCTTT others(43): Show TTTCCTTTCCTTTCCTTTCCTTTCCTTTTCCTTTCCTTTCCTTTCCTTTC C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0024 a0001c0002t0007g0024	1	388	0.0026	50	c.207 others(65): Show c.207+556_207+557insCCTTTCCTTTCCTTTCCTTTCCTTTTCCTT TCCTTTCCTTTCCTTTCCTT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFTN1_chr3_16310845_16518699	16404379	T T	TTTCATAT others(43): Show TTTCATATATAATATATAATATATAATATATAATATATATAATATATATA C	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA19004.hp1 NA18983.hp1 NA19004.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0002 a0001c0005t0001 a0001c0002t0002 a0001c0005t0001	a0001c0002t0002g0212 a0001c0005t0001g0196 a0001c0002t0002g0212 a0001c0005t0001g0196	2	268	0.0075	50	c.441 others(67): Show c.441+4995_441+4996insGTATATATATTATATATATTATATATTA TATATTATATATTATATATGAA	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	4/9			chr3	TogoVar
RFTN1_chr3_16310845_16518699	16415430	T T	TATATATA others(43): Show TATATATATATATATATACACACACACACACACACACACACACACACACA C	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	268	0.0037	50	c.333 others(67): Show c.333-5948_333-5947insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTATATATATATATATAT	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	3/9			chr3	TogoVar
RFTN1_chr3_16310845_16518699	16415430	T T	TATATATA others(43): Show TATATATATATATATATATACACACACACACACACACACACACACACACA C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0198 a0001c0002t0002g0198	1	268	0.0037	50	c.333 others(67): Show c.333-5948_333-5947insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTATATATATATATATATAT	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	3/9			chr3	TogoVar
RFTN1_chr3_16310845_16518699	16415430	T T	TATATATA others(43): Show TATATATATATATATATATATACACACACACACACACACACACACACACA C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01106.hp2 HG01928.hp1 others(12): Show HG00438.hp1 HG01106.hp2 HG01928.hp1 HG01928.hp2 HG01993.hp2 HG02074.hp1 HG02273.hp1 HG03490.hp2 HG04228.hp2 NA18946.hp2 NA18952.hp2 NA19004.hp2 NA19007.hp2 NA19082.hp1 NA19091.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0001c0002 a0009c0014 a0001c0001 a0001c0002 a0009c0014	a0001c0001t0001 a0001c0002t0002 a0009c0014t0001 a0001c0001t0001 a0001c0002t0002 a0009c0014t0001	a0001c0001t0001g0013 a0001c0001t0001g0065 a0001c0001t0001g0079 others(12): Show a0001c0001t0001g0013 a0001c0001t0001g0065 a0001c0001t0001g0079 a0001c0001t0001g0126 a0001c0001t0001g0136 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0221 a0001c0001t0001g0230 a0001c0002t0002g0033 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0199 a0001c0002t0002g0266 a0009c0014t0001g0157	15	268	0.0560	50	c.333 others(67): Show c.333-5948_333-5947insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTATATATATATATATATATAT	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	3/9			chr3	TogoVar
RFTN1_chr3_16310845_16518699	16415430	T T	TATATATA others(43): Show TATATATATATATATATATATATACACACACACACACACACACACACACA C	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01943.hp2 HG01981.hp1 HG01361.hp2 HG01943.hp2 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0002t0002g0131 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0002t0002g0131	3	268	0.0112	50	c.333 others(67): Show c.333-5948_333-5947insGTGTGTGTGTGTGTGTGTGTGTGTGTGT ATATATATATATATATATATAT	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	3/9			chr3	TogoVar
RFTN1_chr3_16310845_16518699	16415430	T T	TATATATA others(43): Show TATATATATATATATATATATATATACACACACACACACACACACACACA C	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0170 a0002c0003t0004g0170	1	268	0.0037	50	c.333 others(67): Show c.333-5948_333-5947insGTGTGTGTGTGTGTGTGTGTGTGTGTAT ATATATATATATATATATATAT	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	3/9			chr3	TogoVar
RFX7_chr15_56082280_56248879	56141656	A A	AATATATA others(43): Show AATATATATATATATATATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG01123.hp2 NA19085.hp2 HG01123.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0004 a0001c0001t0001 a0001c0003t0004	a0001c0001t0001g0335 a0001c0003t0004g0279 a0001c0001t0001g0335 a0001c0003t0004g0279	2	360	0.0056	50	c.401 others(67): Show c.401+1121_401+1122insATATATATATATATATATATATATATAT ATATATATATATATATATATAT	RFX7	ENSG00000181827.16	transcript	ENST00000559447.8	protein_coding	5/9			chr15	TogoVar
RGCC_chr13_41452550_41475871	41467194	C C	CTCTCATG others(43): Show CTCTCATGTGATGTAATCAAGACTGTGCAAATGACAGTGTTTCTTAGGAG T	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	448	0.0022	50	c.343 others(65): Show c.343+265_343+314dupTCTCATGTGATGTAATCAAGACTGTGCAAA TGACAGTGTTTCTTAGGAGT	RGCC	ENSG00000102760.13	transcript	ENST00000379359.4	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr13	TogoVar
RGL3_chr19_11389060_11424314	11414503	A A	ATATATAT others(43): Show ATATATATATATACACCTTCATATATATATATATATATATATATATATAC C	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0072 a0002c0007t0002g0072	1	402	0.0025	50	c.637 others(67): Show c.637+1433_637+1434insGGTATATATATATATATATATATATATA TATGAAGGTGTATATATATATA	RGL3	ENSG00000205517.13	transcript	ENST00000380456.8	protein_coding	5/18			chr19	TogoVar
RGL3_chr19_11389060_11424314	11414504	T T	TATATATA others(43): Show TATATATATATATACACCTTCATATATATATATATATATATATACACCTT C	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18984.hp2 NA18965.hp1 NA18984.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0061 a0001c0003t0002g0062 a0001c0003t0002g0061 a0001c0003t0002g0062	2	402	0.0050	50	c.637 others(67): Show c.637+1432_637+1433insGAAGGTGTATATATATATATATATATAT ATGAAGGTGTATATATATATAT	RGL3	ENSG00000205517.13	transcript	ENST00000380456.8	protein_coding	5/18			chr19	TogoVar
RGL3_chr19_11389060_11424314	11414505	A A	ATATATAT others(43): Show ATATATATATACACCTTCATATATATATATATATATATATATATATACAC C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0132 a0002c0007t0001g0132	1	402	0.0025	50	c.637 others(67): Show c.637+1431_637+1432insGGTGTATATATATATATATATATATATA TATATGAAGGTGTATATATATA	RGL3	ENSG00000205517.13	transcript	ENST00000380456.8	protein_coding	5/18			chr19	TogoVar
RGL3_chr19_11389060_11424314	11414505	A A	ATATATAT others(43): Show ATATATATATACACCTTCATATATATATATATATATATATATATATATAC C	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA18949.hp2 NA18959.hp1 others(7): Show HG00423.hp1 NA18949.hp2 NA18959.hp1 NA18972.hp2 NA18992.hp2 NA18998.hp2 NA18999.hp1 NA19065.hp2 NA19070.hp1 NA19088.hp2	a0002 a0003 a0006 a0002 a0003 a0006	a0002c0007 a0003c0008 a0006c0009 a0002c0007 a0003c0008 a0006c0009	a0002c0007t0001 a0003c0008t0001 a0003c0008t0002 others(2): Show a0002c0007t0001 a0003c0008t0001 a0003c0008t0002 a0003c0008t0005 a0006c0009t0001	a0002c0007t0001g0215 a0002c0007t0001g0216 a0003c0008t0001g0165 others(7): Show a0002c0007t0001g0215 a0002c0007t0001g0216 a0003c0008t0001g0165 a0003c0008t0001g0380 a0003c0008t0001g0381 a0003c0008t0001g0383 a0003c0008t0002g0033 a0003c0008t0002g0088 a0003c0008t0005g0382 a0006c0009t0001g0229	10	402	0.0249	50	c.637 others(67): Show c.637+1431_637+1432insGGTATATATATATATATATATATATATA TATATGAAGGTGTATATATATA	RGL3	ENSG00000205517.13	transcript	ENST00000380456.8	protein_coding	5/18			chr19	TogoVar
RGPD2_chr2_87750960_87830796	87825448	C C	CAGGCCGA others(43): Show CAGGCCGAGGCCGAGGCCGAGGCCGCCGTCGCCGCCGCCGCCGCCCGGCC G	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02293.hp2 HG01167.hp2 HG02293.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0029 a0004c0005t0001g0057 a0004c0005t0001g0029 a0004c0005t0001g0057	2	176	0.0114	50	c.72+ others(63): Show c.72+160_72+209dupCGGCCGGGCGGCGGCGGCGGCGACGGCGGCCT CGGCCTCGGCCTCGGCCT	RGPD2	ENSG00000185304.16	transcript	ENST00000398146.5	protein_coding	1/22			chr2	TogoVar
RGPD4_chr2_107821892_107897544	107827878	A A	AGCGGCCT others(43): Show AGCGGCCTCGACCTGGCCGGGCGGCGGCGGCCTCGACCTGGCCGGGCGGC G	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0004 a0005c0005t0004	a0005c0005t0004g0353 a0005c0005t0004g0353	1	374	0.0027	50	c.72+ others(63): Show c.72+835_72+836insGGGCGGCGGCGGCCTCGACCTGGCCGGGCGGC GGCGGCCTCGACCTGGCC	RGPD4	ENSG00000196862.10	transcript	ENST00000408999.4	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RGPD5_chr2_109789305_109862705	109823546	C C	CCTTTTCT others(43): Show CCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG03209.hp2 HG03453.hp1 HG00639.hp1 HG03209.hp2 HG03453.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0001c0009 a0002c0002 a0001c0005 a0001c0009 a0002c0002	a0001c0005t0001 a0001c0009t0003 a0002c0002t0003 a0001c0005t0001 a0001c0009t0003 a0002c0002t0003	a0001c0005t0001g0039 a0001c0009t0003g0040 a0002c0002t0003g0003 a0001c0005t0001g0039 a0001c0009t0003g0040 a0002c0002t0003g0003	3	40	0.0750	50	c.127 others(67): Show c.1277-648_1277-647insTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTT	RGPD5	ENSG00000015568.13	transcript	ENST00000016946.8	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RGS12_chr4_3288021_3444913	3309607	C C	CTTGGGAA others(43): Show CTTGGGAATGGCAGGTGTCTGCTGAGAACTGGGTGGGAGAGGAGCTGGGA T	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01928.hp2 HG02280.hp1 others(7): Show HG01515.hp1 HG01928.hp2 HG02280.hp1 HG02486.hp2 HG02723.hp2 HG03239.hp1 HG03471.hp2 HG03491.hp2 HG03492.hp1 NA19064.hp2	a0001 a0014 a0001 a0014	a0001c0002 a0001c0003 a0001c0005 others(2): Show a0001c0002 a0001c0003 a0001c0005 a0001c0021 a0014c0033	a0001c0002t0001 a0001c0003t0001 a0001c0005t0001 others(2): Show a0001c0002t0001 a0001c0003t0001 a0001c0005t0001 a0001c0021t0001 a0014c0033t0001	a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0192 others(7): Show a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0192 a0001c0002t0001g0249 a0001c0003t0001g0273 a0001c0005t0001g0123 a0001c0005t0001g0124 a0001c0005t0001g0125 a0001c0021t0001g0004 a0014c0033t0001g0271	10	312	0.0321	50	c.-10 others(69): Show c.-101-6463_-101-6462insTTGGGAATGGCAGGTGTCTGCTGAGA ACTGGGTGGGAGAGGAGCTGGGAT	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	1/17			chr4	TogoVar
RGS4_chr1_163064361_163081802	163071873	C C	CCCCCCCC others(43): Show CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC A	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0103 a0001c0001t0016g0103	1	450	0.0022	50	c.45- others(63): Show c.45-522_45-521insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCCCCCA	RGS4	ENSG00000117152.14	transcript	ENST00000367909.11	protein_coding	1/4			chr1	TogoVar
RGS6_chr14_71927429_72571530	72542843	G G	GAGGGATT others(43): Show GAGGGATTATCTGTTAAGACCACATATGCCCCCTTTTCCATGAGATCCTA A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp2 HG02559.hp2 HG01884.hp1 HG01884.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0012 a0001c0001t0030 a0001c0002t0012 a0001c0001t0012 a0001c0001t0030 a0001c0002t0012	a0001c0001t0012g0105 a0001c0001t0030g0013 a0001c0002t0012g0125 a0001c0001t0012g0105 a0001c0001t0030g0013 a0001c0002t0012g0125	3	130	0.0231	50	c.142 others(69): Show c.1422+2750_1422+2799dupAGGGATTATCTGTTAAGACCACATAT GCCCCCTTTTCCATGAGATCCTAA	RGS6	ENSG00000182732.18	transcript	ENST00000553525.6	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
RGS7_chr1_240770514_241362205	241068238	G G	GTGTGTGT others(43): Show GTGTGTGTGTGTGTGTGTATATATATATATATATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	112	0.0089	50	c.175 others(69): Show c.175+30427_175+30428insTATATATATATATATATATATATATA TATATATACACACACACACACACA	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	3/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241221014	G G	GAAGGAAG others(43): Show GAAGGAAGGAAGGAAGGAAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAG A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	112	0.0089	50	c.79- others(69): Show c.79-122253_79-122252insTCTCTCTCTCTCTCTTTCTTTCTTTC TTTCTTTTCCTTCCTTCCTTCCTT	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	2/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241259667	A A	AAAAAAAA others(43): Show AAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	112	0.0089	50	c.78+ others(67): Show c.78+96031_78+96032insATATATATATATATATATATATATATAT TTTTTTTTTTTTTTTTTTTTTT	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	2/18			chr1	TogoVar
RHBDL2_chr1_38880807_38946830	38882338	A A	ATATATAT others(43): Show ATATATATAAATATATATATATATATATATATATATTTACATATATATAT T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	364	0.0028	50	c.41 others(61): Show c.4165_*4166insAATATATATATGTAAATATATATATATATATATA TATATATTTATATATA	RHBDL2	ENSG00000158315.11	transcript	ENST00000372990.6	protein_coding		3468		chr1	TogoVar
RHCG_chr15_89466407_89501583	89479122	C C	CAAAACAA others(43): Show CAAAACAAAAAACAAGATAAAGAATTCTCAAAAACAAAACAAAACAAAAC A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01884.hp1 HG02622.hp1 others(4): Show HG01106.hp1 HG01884.hp1 HG02622.hp1 HG02965.hp1 HG02976.hp1 HG03195.hp2 HG06807.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0012 a0008c0011 a0001c0001 a0001c0012 a0008c0011	a0001c0001t0003 a0001c0012t0003 a0008c0011t0003 a0001c0001t0003 a0001c0012t0003 a0008c0011t0003	a0001c0001t0003g0055 a0001c0001t0003g0058 a0001c0001t0003g0106 others(4): Show a0001c0001t0003g0055 a0001c0001t0003g0058 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0289 a0001c0012t0003g0056 a0008c0011t0003g0057	7	360	0.0194	50	c.837 others(65): Show c.837+199_837+200insTGTTTTGTTTTGTTTTGTTTTTGAGAATTC TTTATCTTGTTTTTTGTTTT	RHCG	ENSG00000140519.14	transcript	ENST00000268122.9	protein_coding	5/10			chr15	TogoVar
RICTOR_chr5_38932920_39079399	38990727	C C	CATATCTG others(43): Show CATATCTGATATATATCATATATATGATATATCAGATATATATCAGATAT G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03209.hp2 NA19043.hp1 HG02280.hp2 HG03209.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0021 a0001c0001t0002 a0001c0001t0021	a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0021g0171 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0021g0171	3	338	0.0089	50	c.583 others(65): Show c.583+221_583+222insCATATCTGATATATATCTGATATATCATAT ATATGATATATATCAGATAT	RICTOR	ENSG00000164327.14	transcript	ENST00000357387.8	protein_coding	7/37			chr5	TogoVar

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