Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RDH13_chr19_55039316_55068148	55064842	A A	ACCTCAGG others(305): Show ACCTCAGGTGATCTACCTGCCTCACCCATCCACAAAATGCTGGGATTACA GACGTGAGCCACCGTGCCACACCAGAAGCCGTTGTTGTTGTTGTTTTTTG AGACGGCAGTCTTACTCTGTCGCCCAGGCTGGAGCGCAGTGGCGTGATCT TGGCTCACCGCAACCTCTGCCTCCCGAATTCAAGCCTTTCTCCTGCCTCA GCCTTCCCGAGTTGCTGGGATTACAGGTGCCCGCCACCAAGCCCAGGTAA TGTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCCAGGCTGGT CTGGAGCTCCTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0005 a0001c0004t0007g0005	1	377	0.0027	312	c.-18 others(323): Show c.-1811_-1810insACAGGAGCTCCAGACCAGCCTGGCCAACATGGTG AAACCTCGTCTCTACTAAAAATACAAACATTACCTGGGCTTGGTGGCGGG CACCTGTAATCCCAGCAACTCGGGAAGGCTGAGGCAGGAGAAAGGCTTGA ATTCGGGAGGCAGAGGTTGCGGTGAGCCAAGATCACGCCACTGCGCTCCA GCCTGGGCGACAGAGTAAGACTGCCGTCTCAAAAAACAACAACAACAACG GCTTCTGGTGTGGCACGGTGGCTCACGTCTGTAATCCCAGCATTTTGTGG ATGGGTGAGGCAGGTAGATCACCTGAGG	RDH13	ENSG00000160439.16	transcript	ENST00000415061.8	protein_coding		1695		chr19	TogoVar
RER1_chr1_2386841_2410436	2401341	T T	TCCTCCCT others(305): Show TCCTCCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTTCTTCCTCCCTCCT CCCTCCCTCCTCCCTCCCTCCTCCTCCCTCCTTCCTCCCTCCTTCCTCCT CCCTCCTTCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCC CTTCTTCCTCCCTCCTCCTCCCTGCTTCCTCCTCCTCCCTCCTCCCCCTC CTCCCTCCCCCCTCCTCCCTCCCTCCTCCCCCCTCCTCCCTCCTTCCTCC CTCCTCCTCCCTCCCTCCTCCTTCCTCCCTCCTCCTTCCTCCCTCCTTCC TCCCTCCTCCTCC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0230 a0001c0001t0023g0230	1	354	0.0028	312	c.365 others(327): Show c.365+407_365+408insCTCCCTCCTCCCTCCTTCCTCCCTCCTCCT CCCTTCTTCCTCCCTCCTCCCTCCCTCCTCCCTCCCTCCTCCTCCCTCCT TCCTCCCTCCTTCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCTCCTC CCTCCTCCTCCCTCCTCCCTTCTTCCTCCCTCCTCCTCCCTGCTTCCTCC TCCTCCCTCCTCCCCCTCCTCCCTCCCCCCTCCTCCCTCCCTCCTCCCCC CTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCCTCCTCCTTCCTCCCTCC TCCTTCCTCCCTCCTTCCTCCCTCCTCCTCCC	RER1	ENSG00000157916.20	transcript	ENST00000605895.6	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RETNLB_chr3_108750638_108762410	108759494	T T	TGTATGTA others(305): Show TGTATGTATGTATGTGTATGCATACATATGTATGTGTATACATACGTATG TATGTATGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTA TGTATGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTATG TATGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTATGTG TATACATACGTATGTATGTGTATACATACATACGTATGTATGTGTATACA TACATACGTATGTATGTGTATACATACGTATGTATGTGTATACATACGTA TGTATGTGTATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	452	0.0022	312	c.-23 others(323): Show c.-2310_-2309insGTATACACATACATACGTATGTATACACATACAT ACGTATGTATACACATACATACGTATGTATGTATACACATACATACGTAT GTATGTATACACATACATACGTATGTATACACATACATACGTATGTATAC ACATACATACATACGTATGTATACACATACATACATACGTATGTATACAC ATACATACATACGTATGTATACACATACATACATACGTATGTATACACAT ACATACATACGTATGTATACACATACATACATACGTATGTATACACATAC ATATGTATGCATACACATACATACATAC	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2085		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759634	C C	CATACGTA others(305): Show CATACGTATGTATGTATGTGTATACATACGTATGTATGTATGTGTATACA TACGTATGTATGTATGTGTATACATACGTATGTGTATACATACATACGTA TGTGTATACATACATACGTATGTATGTGTATACATACATACGTATGTATG TGTATACATACATACGTATGTATGTGTATACATACGTATGTATGTGTATA CATACATACGTATGTATGTGTATACATACATACGTATGTATGTGTATACA TACATACGTATGTATGTGTATACATACGTATGTATGTGTATACATACGTA TGTATGTATGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	452	0.0022	312	c.-24 others(323): Show c.-2450_-2449insACACATACATACATACGTATGTATACACATACAT ACGTATGTATACACATACATACGTATGTATGTATACACATACATACGTAT GTATGTATACACATACATACGTATGTATGTATACACATACATACGTATGT ATACACATACATACGTATGTATGTATACACATACATACGTATGTATGTAT ACACATACATACGTATGTATGTATACACATACGTATGTATGTATACACAT ACGTATGTATACACATACATACATACGTATGTATACACATACATACATAC GTATGTATACACATACATACATACGTAT	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2225		chr3	TogoVar
RFX3_chr9_3213297_3531001	3504655	C C	CATATGGT others(305): Show CATATGGTATATATTGTATATAAAATATATAGTATATGCCATATGGTATA TATTGTATATAAAATATATAGTATATGCCATATGGTATATATTGTATATA AAATATATAGTATATGCCATATGGTATATATTGTATATAAAATATATATT ATATGCCATATGGTATATATTGTATATAAAATATATATTATATGCCATAT GGTATATATTGTATATAAAATATATATTATATGCCATATGGTATATATTG TATATAAAATATATATTATATGCCATATGGTATATATTGTATATAAAATA TATATTATATGCT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03098.hp1 HG02723.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0085 a0001c0001t0017g0086 a0001c0001t0017g0085 a0001c0001t0017g0086	2	196	0.0102	312	c.-9+ others(329): Show c.-9+21091_-9+21092insAGCATATAATATATATTTTATATACAAT ATATACCATATGGCATATAATATATATTTTATATACAATATATACCATAT GGCATATAATATATATTTTATATACAATATATACCATATGGCATATAATA TATATTTTATATACAATATATACCATATGGCATATAATATATATTTTATA TACAATATATACCATATGGCATATACTATATATTTTATATACAATATATA CCATATGGCATATACTATATATTTTATATACAATATATACCATATGGCAT ATACTATATATTTTATATACAATATATACCATAT	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RFX3_chr9_3213297_3531001	3504671	C C	CATATAAA others(305): Show CATATAAAATATATAGTATATGCCATATGGTATATATTGCATATAAAATA TATAGTATATGCCATATGGTATATATTGCATATAAAATATATAGTATATG CCATATGGTATATATTGTATATAAAATATATAGTATATGCCATATGGTAT ATATTGTATATAAAATATATAGTATATGCCATATGGTATATATTGTATAT AAAATATATAGTATATGCCATATGGTATATATTGTATATAAAATATATAG TATATGCCATATGGTATATATTGTATATAAAATATATAGTATATGCTATA TGGTATATATTGT	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0182 a0001c0001t0003g0182	1	196	0.0051	312	c.-9+ others(329): Show c.-9+21075_-9+21076insACAATATATACCATATAGCATATACTAT ATATTTTATATACAATATATACCATATGGCATATACTATATATTTTATAT ACAATATATACCATATGGCATATACTATATATTTTATATACAATATATAC CATATGGCATATACTATATATTTTATATACAATATATACCATATGGCATA TACTATATATTTTATATACAATATATACCATATGGCATATACTATATATT TTATATGCAATATATACCATATGGCATATACTATATATTTTATATGCAAT ATATACCATATGGCATATACTATATATTTTATAT	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RFX3_chr9_3213297_3531001	3504671	C C	CATATAAA others(305): Show CATATAAAATATATAGTATATGCCATATGGTATATATTGTATATAAAATA TATAGTATATGCCATATGGTATATATTGTATATAAAATATATAGTATATG CCATATGGTATATATTGTATATAAAATATATAGTATATGCCATATGGTAT ATATTGTATATAAAATATATAGTATATGCCATATGGTATATATTGTATAT AAAATATATAGTATATGCCATATGGTATATATTGTATATAAAATATATAG TATATGCCATATGGTATATATTGTATATAAAATATATAGTATATGCTATA TGGTATATATTGT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0174 a0001c0001t0063g0174	1	196	0.0051	312	c.-9+ others(329): Show c.-9+21075_-9+21076insACAATATATACCATATAGCATATACTAT ATATTTTATATACAATATATACCATATGGCATATACTATATATTTTATAT ACAATATATACCATATGGCATATACTATATATTTTATATACAATATATAC CATATGGCATATACTATATATTTTATATACAATATATACCATATGGCATA TACTATATATTTTATATACAATATATACCATATGGCATATACTATATATT TTATATACAATATATACCATATGGCATATACTATATATTTTATATACAAT ATATACCATATGGCATATACTATATATTTTATAT	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RNF17_chr13_24759169_24884921	24881962	C C	CTAGATAG others(305): Show CTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGAT AGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATAT ATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGAT ACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCT AGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAG ATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATAT AGATACATCTAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 NA18946.hp1 HG02809.hp1 NA18946.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0036 a0001c0002t0001g0047 a0001c0002t0001g0036 a0001c0002t0001g0047	2	426	0.0047	312	c.22 others(323): Show c.2236_*2237insTAGATAGATATATAGATACATCTAGATAGATATA TAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATA CATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTA GATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGA TATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATA GATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACA TCTAGATAGATATATAGATACATCTAGA	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2042		chr13	TogoVar
ROCK2_chr2_11174759_11349636	11213565	T T	TAAAATAT others(305): Show TAAAATATTTATTACCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGAGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01884.hp2 HG02896.hp2 others(3): Show HG01175.hp1 HG01884.hp2 HG02896.hp2 HG02897.hp1 HG02976.hp2 HG03195.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0112 a0002c0002t0011g0113 a0002c0002t0011g0114 others(3): Show a0002c0002t0011g0112 a0002c0002t0011g0113 a0002c0002t0011g0114 a0002c0002t0011g0115 a0002c0002t0011g0116 a0002c0002t0011g0117	6	320	0.0188	312	c.204 others(329): Show c.2043+791_2043+792insTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCTCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCTGGTAATAAATATTTT	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	17/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11213565	T T	TAAAATAT others(305): Show TAAAATATTTATTACCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(101): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp2 HG00597.hp2 HG00609.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG01069.hp1 HG01081.hp1 HG01099.hp2 HG01192.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01928.hp2 HG01934.hp1 HG01978.hp2 HG02015.hp2 HG02040.hp2 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02155.hp1 HG02165.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02622.hp1 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02922.hp2 HG03041.hp2 HG03098.hp2 HG03225.hp2 HG03490.hp2 HG03491.hp2 HG03669.hp1 HG03688.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04184.hp1 HG04204.hp1 HG04228.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18941.hp1 NA18942.hp2 NA18944.hp1 NA18949.hp2 NA18951.hp1 NA18954.hp2 NA18957.hp1 NA18959.hp1 NA18960.hp2 NA18965.hp1 NA18969.hp2 NA18971.hp2 NA18979.hp1 NA18985.hp2 NA18986.hp2 NA18989.hp1 NA18990.hp2 NA18991.hp2 NA19002.hp2 NA19004.hp1 NA19005.hp2 NA19006.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19043.hp1 NA19060.hp2 NA19062.hp1 NA19064.hp1 NA19066.hp1 NA19070.hp2 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp2 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA20300.hp1 NA20752.hp1 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0006 a0007	a0001c0001 a0002c0002 a0002c0004 others(3): Show a0001c0001 a0002c0002 a0002c0004 a0005c0010 a0006c0008 a0007c0009	a0001c0001t0002 a0001c0001t0003 a0001c0001t0042 others(24): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0042 a0002c0002t0002 a0002c0002t0003 a0002c0002t0014 a0002c0002t0015 a0002c0002t0017 a0002c0002t0018 a0002c0002t0032 a0002c0002t0034 a0002c0002t0035 a0002c0002t0036 a0002c0002t0037 a0002c0002t0039 a0002c0002t0040 a0002c0002t0043 a0002c0002t0044 a0002c0002t0045 a0002c0002t0046 a0002c0002t0047 a0002c0002t0075 a0002c0002t0077 a0002c0004t0002 a0005c0010t0014 a0006c0008t0038 a0007c0009t0002	a0001c0001t0002g0065 a0001c0001t0002g0106 a0001c0001t0003g0040 others(101): Show a0001c0001t0002g0065 a0001c0001t0002g0106 a0001c0001t0003g0040 a0001c0001t0042g0071 a0002c0002t0002g0008 a0002c0002t0002g0009 a0002c0002t0002g0010 a0002c0002t0002g0011 a0002c0002t0002g0012 a0002c0002t0002g0015 a0002c0002t0002g0016 a0002c0002t0002g0020 a0002c0002t0002g0022 a0002c0002t0002g0023 a0002c0002t0002g0026 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0038 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0050 a0002c0002t0002g0053 a0002c0002t0002g0056 a0002c0002t0002g0058 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0080 a0002c0002t0002g0082 a0002c0002t0002g0087 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0105 a0002c0002t0002g0107 a0002c0002t0003g0013 a0002c0002t0003g0014 a0002c0002t0003g0017 a0002c0002t0003g0028 a0002c0002t0003g0031 a0002c0002t0003g0036 a0002c0002t0003g0037 a0002c0002t0003g0051 a0002c0002t0003g0054 a0002c0002t0003g0055 a0002c0002t0003g0078 a0002c0002t0003g0086 a0002c0002t0003g0088 a0002c0002t0003g0093 a0002c0002t0003g0094 a0002c0002t0003g0095 a0002c0002t0003g0096 a0002c0002t0003g0097 a0002c0002t0003g0100 a0002c0002t0003g0108 a0002c0002t0014g0052 a0002c0002t0014g0066 a0002c0002t0015g0005 a0002c0002t0015g0006 a0002c0002t0015g0049 a0002c0002t0017g0224 a0002c0002t0017g0225 a0002c0002t0017g0270 a0002c0002t0018g0027 a0002c0002t0018g0081 a0002c0002t0032g0070 a0002c0002t0034g0085 a0002c0002t0035g0059 a0002c0002t0036g0043 a0002c0002t0037g0030 a0002c0002t0039g0057 a0002c0002t0040g0042 a0002c0002t0043g0104 a0002c0002t0044g0035 a0002c0002t0045g0044 a0002c0002t0046g0019 a0002c0002t0047g0025 a0002c0002t0075g0226 a0002c0002t0077g0317 a0002c0004t0002g0021 a0002c0004t0002g0039 a0002c0004t0002g0041 a0002c0004t0002g0045 a0002c0004t0002g0060 a0002c0004t0002g0061 a0002c0004t0002g0092 a0005c0010t0014g0079 a0006c0008t0038g0091 a0007c0009t0002g0083	104	320	0.3250	312	c.204 others(329): Show c.2043+791_2043+792insTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCTGGTAATAAATATTTT	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	17/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11213565	T T	TAAAATAT others(305): Show TAAAATATTTATTACCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01258.hp2 HG01255.hp2 HG01258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0041 a0002c0002t0002 a0002c0002t0041	a0002c0002t0002g0024 a0002c0002t0041g0084 a0002c0002t0002g0024 a0002c0002t0041g0084	2	320	0.0063	312	c.204 others(329): Show c.2043+791_2043+792insTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCTGGTAATAAATATTTT	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	17/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11286234	T T	TTAAGCAG others(305): Show TTAAGCAGATGTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCTGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02622.hp2 NA18906.hp2 others(2): Show HG02145.hp1 HG02622.hp2 NA18906.hp2 NA18990.hp2 NA19007.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0001c0001t0033 a0002c0002t0002 others(1): Show a0001c0001t0004 a0001c0001t0033 a0002c0002t0002 a0002c0002t0003	a0001c0001t0004g0207 a0001c0001t0004g0210 a0001c0001t0033g0007 others(2): Show a0001c0001t0004g0207 a0001c0001t0004g0210 a0001c0001t0033g0007 a0002c0002t0002g0046 a0002c0002t0003g0013	5	320	0.0156	312	c.324 others(327): Show c.324+304_324+305insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAACATCTGCTTA	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	3/32			chr2	TogoVar
RORA_chr15_60483284_61234302	60816082	G G	GTATACTG others(305): Show GTATACTGTAAACAGTATATGTATTTATATACTGTAAACAGTATATGTAT TTATATACTGTAAACAGTATATGTATTTATATACTGTAAACAGTATATGT ATTTATATACTGTAAACAGTATATGTATTTATATACTGTAAACAGTATAT GTATTTATATACTGTAAACAGTATATGTATTTATATACTGTAAACAGTAT ATGTATTTATATACTGTAAACAGTATATGTATTTATATACTGTAAACAGT ATATGTATTTATATACTGTAAACAGTATATGTATTTATATACTGTAAACA GTATATGTATTTA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	118	0.0085	312	c.167 others(333): Show c.167-137708_167-137397dupTAAATACATATACTGTTTACAGTA TATAAATACATATACTGTTTACAGTATATAAATACATATACTGTTTACAG TATATAAATACATATACTGTTTACAGTATATAAATACATATACTGTTTAC AGTATATAAATACATATACTGTTTACAGTATATAAATACATATACTGTTT ACAGTATATAAATACATATACTGTTTACAGTATATAAATACATATACTGT TTACAGTATATAAATACATATACTGTTTACAGTATATAAATACATATACT GTTTACAGTATATAAATACATATACTGTTTACAGTATA	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RPH3AL_chr17_207389_357807	356559	T T	TCACAGTC others(305): Show TCACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCC TCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGA CCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCAC ACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACA GTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCAC AGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCG CACCACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG03540.hp2 HG02572.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0119 a0001c0001t0005g0132 a0001c0001t0001g0119 a0001c0001t0005g0132	2	133	0.0150	312	c.-40 others(323): Show c.-4061_-4060insTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGA CTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTG TGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCG GTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGG AGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTG TGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGG TGCGCGGTCGCCTGTGGAGGCGACTGTG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		3753		chr17	TogoVar
RPS6KC1_chr1_213046241_213279774	213092711	T T	TCCAAGAT others(305): Show TCCAAGATATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0273 a0004c0004t0005g0273	1	330	0.0030	312	c.263 others(331): Show c.263-11728_263-11727insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGC GGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCC CGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCC GGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCG GGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGCCAAGATATGTTTTT	RPS6KC1	ENSG00000136643.12	transcript	ENST00000366960.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
RSU1_chr10_16585611_16822424	16748873	T T	TCCCAGAG others(305): Show TCCCAGAGCTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTG TCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCG CCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGG ACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACAGGGTTTCACCGTGTTAGCCAGGAGGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0004 a0001c0002t0019g0004	1	190	0.0053	312	c.598 others(329): Show c.598+3665_598+3666insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCCTCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCCGGA GGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGA GCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAGAGCTCTGGG	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	7/8			chr10	TogoVar
RSU1_chr10_16585611_16822424	16748873	T T	TCCCAGAG others(305): Show TCCCAGAGCTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTG TCGCCCATGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCG CCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGG ACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACAGGGTTTCACCGTGTTAGCCAGGAGGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA20129.hp2 HG02809.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0036 a0001c0001t0004 a0001c0001t0036	a0001c0001t0004g0076 a0001c0001t0036g0002 a0001c0001t0004g0076 a0001c0001t0036g0002	2	190	0.0105	312	c.598 others(329): Show c.598+3665_598+3666insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCCTCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCCGGA GGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGA GCCGAGATTGCGCCACTGCACTCCAGCATGGGCGACAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAGAGCTCTGGG	RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	7/8			chr10	TogoVar
RTF1_chr15_41412095_41488563	41430010	T T	TTTTTTTT others(305): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAA GCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCTT ATTTTTTCTTTTC	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0178 a0001c0001t0004g0178	1	226	0.0044	312	c.199 others(329): Show c.199-8311_199-8310insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGG CGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTC CTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCC CGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCC AGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCA AAGTGCTGGGATTACAGGCTTATTTTTTCTTTTC	RTF1	ENSG00000137815.15	transcript	ENST00000389629.9	protein_coding	1/17			chr15	TogoVar
RUNDC3B_chr7_87623398_87837296	87626335	C C	CATATATA others(305): Show CATATATATGTGTCATATATGTGTCATATATATGTGTCATATATATGTGT CATATATATGTGTCATATATATGTGTCATATATATGTGTCATATATATGT GTCATATATATGTGTCATATATATGTGTCATATATATGTGTCATATATAT GTGTCATATATATGTGTCATATATATGTGTCATATATATGTGTCATATAT ATGTGTCATATATATGTGTCATATATATGTGTCATATATATGTGTCATAT ATATGTGTCATATATATGTGTCATATATATGTGTCATATATATGTGTCAT ATATATGTGTCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	202	0.0050	312	c.-24 others(323): Show c.-2489_-2488insATATATATGTGTCATATATGTGTCATATATATGT GTCATATATATGTGTCATATATATGTGTCATATATATGTGTCATATATAT GTGTCATATATATGTGTCATATATATGTGTCATATATATGTGTCATATAT ATGTGTCATATATATGTGTCATATATATGTGTCATATATATGTGTCATAT ATATGTGTCATATATATGTGTCATATATATGTGTCATATATATGTGTCAT ATATATGTGTCATATATATGTGTCATATATATGTGTCATATATATGTGTC ATATATATGTGTCATATATATGTGTCAT	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		2062		chr7	TogoVar
RUVBL1_chr3_128075810_128128812	128118241	T T	TAAAAAAC others(305): Show TAAAAAACTGTTCACAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGACGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0077 a0001c0001t0006g0077	1	360	0.0028	312	c.228 others(329): Show c.228+1086_228+1087insTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCTGTGAACAGTTTTTT	RUVBL1	ENSG00000175792.12	transcript	ENST00000322623.10	protein_coding	2/10			chr3	TogoVar
RXFP1_chr4_158516882_158658372	158628943	T T	TAAGGCCG others(305): Show TAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGC CGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGGCCATCCCAGCTAAAA CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAG TGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATG GCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGC ACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18994.hp1 NA19011.hp2 others(1): Show NA18947.hp2 NA18994.hp1 NA19011.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0038 a0001c0001t0001g0194 a0001c0001t0001g0001 a0001c0001t0001g0038 a0001c0001t0001g0194	4	210	0.0191	312	c.899 others(327): Show c.899+236_899+237insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GGCCATCCCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RXYLT1_chr12_63774909_63814562	63797302	T T	TAAGAATA others(305): Show TAAGAATATGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGACCATCCC GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCC GGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA18906.hp1 HG02622.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0189 a0001c0001t0002g0190	2	372	0.0054	312	c.429 others(329): Show c.429-4779_429-4778insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAGAATATGC	RXYLT1	ENSG00000118600.13	transcript	ENST00000261234.11	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
RYR2_chr1_237037184_237838988	237405894	T T	TGAAAAAA others(305): Show TGAAAAAACTTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0060 a0001c0003t0004g0060	1	100	0.0100	312	c.774 others(331): Show c.774-11141_774-11140insTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCGAAAAAACTTTCTT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	10/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
S1PR4_chr19_3173769_3185332	3177856	A A	ATCGGGCT others(305): Show ATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTC TGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGT TTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTG CAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGG GCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGC CTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCC CTTCTGCAACGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	418	0.0024	312	c.-93 others(321): Show c.-937_-936insTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAAC GCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTC TCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCA GTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTC TGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTC GGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGG GCCTCAGTTTCCCCTTCTGCAACGCC	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		912		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3177973	A A	ATCGGGCT others(305): Show ATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTC TGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGT TTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTG CAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGG GCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGC CTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCC CTTCTGCAACGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	418	0.0024	312	c.-82 others(321): Show c.-820_-819insTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAAC GCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTC TCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCA GTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTC TGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTC GGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGG GCCTCAGTTTCCCCTTCTGCAACGCC	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		795		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3178182	G G	GCCTCAGT others(305): Show GCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTC CCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAA CGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCT CTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTC AGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTT CTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCAT CGGGCTCTCTGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02630.hp2 HG02647.hp2 others(5): Show HG02257.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp2 HG02818.hp1 HG02976.hp1 HG03098.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0002t0001g0000 a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0002t0001g0000	8	418	0.0191	312	c.-61 others(321): Show c.-611_-610insCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCT GGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTT TCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGC AACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGG CTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCC TCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCC TTCTGCAACGCATCGGGCTCTCTGGC	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		586		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3178207	A A	ATCGGGCT others(305): Show ATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTC TGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGT TTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTG CAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGG GCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGC CTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGCCCTCAGTTTCCC CTTCTGCAACGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	418	0.0024	312	c.-58 others(321): Show c.-586_-585insTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAAC GCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTC TCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCA GTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTC TGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATC GGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGG CCCTCAGTTTCCCCTTCTGCAACGCC	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		561		chr19	TogoVar
SATL1_chrX_85087284_85248779	85135735	G G	GCTCGAGT others(305): Show GCTCGAGTAATTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0040	1	232	0.0043	312	c.-31 others(333): Show c.-312-26456_-312-26455insGCCGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG ATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAATTACTCGAG	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding	2/7			chrX	TogoVar
SCFD2_chr4_52867982_53371061	52985668	T T	TAAAAAAT others(305): Show TAAAAAATTAGTCCAGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCATTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02004.hp1 HG03492.hp2 others(2): Show HG00140.hp1 HG02004.hp1 HG03492.hp2 HG03669.hp2 NA18981.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0002 a0001c0004 a0002c0002	a0001c0004t0003 a0001c0004t0006 a0001c0004t0007 others(1): Show a0001c0004t0003 a0001c0004t0006 a0001c0004t0007 a0002c0002t0001	a0001c0004t0003g0051 a0001c0004t0006g0155 a0001c0004t0007g0150 others(2): Show a0001c0004t0003g0051 a0001c0004t0006g0155 a0001c0004t0007g0150 a0002c0002t0001g0032 a0002c0002t0001g0100	5	162	0.0309	312	c.156 others(333): Show c.1562-64799_1562-64798insTTTTTTTTTTTTTTGAGACAGAGT CTCGCTCTGTCGCCCAGGCTGGAATGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCTCCTGGACTAATTTTTT	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	5/8			chr4	TogoVar
SCNN1D_chr1_1275436_1297025	1288347	C C	CCGTGTCT others(305): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCC CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCG TCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGT GTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0254 a0001c0001t0002g0254	1	290	0.0035	312	c.166 others(329): Show c.1662+311_1662+312insGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCG TCCCCCGAGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCC GTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288383	T T	TCCCCCGT others(305): Show TCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCCGTGTCCCTGCCCCGTCCCCCGTGTCTCTGCCCCGTC CCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGC TCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01358.hp1 HG01255.hp2 HG01358.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0021 a0002c0003t0002g0024 a0002c0003t0002g0021 a0002c0003t0002g0024	2	290	0.0069	312	c.166 others(329): Show c.1662+349_1662+350insCCGTGTCTCTGCCCCGTCCCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCCCCGTCCC CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCC GTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCC CGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288419	T T	TCCCCCGT others(305): Show TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCC CTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTC CGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0104 a0002c0003t0002g0104	1	290	0.0035	312	c.166 others(329): Show c.1662+385_1662+386insCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCCCGTGTCCCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288507	C C	CCCGTCCC others(305): Show CCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCC GTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCT GCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC CCGTGTCTCTGCT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0044 a0002c0003t0001g0044	1	290	0.0035	312	c.166 others(329): Show c.1662+513_1662+514insGTGTCTCTGCCCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGT CCCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGT GTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288813	C C	CCGTGTCT others(305): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCCCCGTCCCCCGTGTCTGCTCCGTCCCCCGTGTCCCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGT GTCCCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	290	0.0035	312	c.166 others(329): Show c.1662+777_1662+778insGTGTCTCTGCTCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTGCTC CGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCC CTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCC GAGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289035	C C	CCGTGTCT others(305): Show CCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTC CGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCC CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCC GTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCT GCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGT GTCCCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG01256.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	290	0.0069	312	c.166 others(330): Show c.1662+999_1662+1000insGTGTCTCTGCTCCGTCCCGTGTCCCTG CTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTC TCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCT CCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTC CCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCG TGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCTR_chr2_119434843_119529483	119444506	T T	TATATATA others(305): Show TATATATATACACATATATACGTACGTATATATATACACATATATACGTA CGAATATATATACACATATATACGTACGAATATATATACACATATATACG TACGAATATATATACACATATATACGTACGAATATATATACACATATATA CGTACGAATATATATACACATATATACGTACGAATATATATACACATATA TACGTACGAATATATATACACATATATACGTACGAATATATATACACATA TATACGTACGAATATATATACACATATATACGTACGAATATATATACACA TATATACGTACGA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0254 a0001c0002t0001g0254	1	290	0.0035	312	c.114 others(331): Show c.1140+2252_1140+2253insTCGTACGTATATATGTGTATATATAT TCGTACGTATATATGTGTATATATATTCGTACGTATATATGTGTATATAT ATTCGTACGTATATATGTGTATATATATTCGTACGTATATATGTGTATAT ATATTCGTACGTATATATGTGTATATATATTCGTACGTATATATGTGTAT ATATATTCGTACGTATATATGTGTATATATATTCGTACGTATATATGTGT ATATATATTCGTACGTATATATGTGTATATATATTCGTACGTATATATGT GTATATATATACGTACGTATATATGTGTATATATAT	SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	11/12			chr2	TogoVar
SCYGR2_chr2_227593893_227604255	227601500	T T	TAGATTTG others(305): Show TAGATTTGACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCCGGACTGCGGACTGCAG TGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCAGGTTCACGCCATT CTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGC GCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTA GCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTC CCAAAGTGCTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0000 a0005c0005t0001g0000	1	469	0.0021	312	c.22 others(323): Show c.2245_*2246insAGATTTGACTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCCG GACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCC CAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCC ACCCGCCTCGGCCTCCCAAAGTGCTGGG	SCYGR2	ENSG00000284643.1	transcript	ENST00000641394.1	protein_coding		2246		chr2	TogoVar
SEC11C_chr18_59134884_59163832	59152232	G G	GCAGGACT others(305): Show GCAGGACTTTTTTTTTTTTTTTTTTTTTGTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	444	0.0023	312	c.198 others(327): Show c.198-291_198-290insTTTTTTTTTTTTTTGTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCAGGACTTTTTTT	SEC11C	ENSG00000166562.9	transcript	ENST00000587834.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
SEPTIN9_chr17_77276499_77505593	77485004	G G	GGGTGATG others(305): Show GGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGCGATTGTG GTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGT GATTGTGATGGTGGTGATGGGGTGATGGTGGTGATGGGGCGATGGTGGTG ATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGGTGAT GGTGATGGTGGTGATTGGTGTGGTGATGTGGGTGGTGGTGGTGATGTGGG TGGTGGTGGTGATTGTGATGGGGTGATGGTAATGTGGGTGATGGTGATTG TGGTGGTAGTGGT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	150	0.0067	312	c.914 others(329): Show c.914-2410_914-2409insATTGTGATGGTGGTGAAGGGGGTGATGG TGGCGATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAG GGGGTGATGGTGATTGTGATGGTGGTGATGGGGTGATGGTGGTGATGGGG CGATGGTGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTG ATGGTGGTGATGGTGATGGTGGTGATTGGTGTGGTGATGTGGGTGGTGGT GGTGATGTGGGTGGTGGTGGTGATTGTGATGGGGTGATGGTAATGTGGGT GATGGTGATTGTGGTGGTAGTGGTGGTGATGGTG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77276499_77505593	77485015	G G	GTGATTGT others(305): Show GTGATTGTGATGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGG GGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGATGG TGGTGATGGGGTGATGGTGGTGATGGGGCGATGGTGGTGATTGTGATGGT GGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGGTGATGGTGATGGTGG TGATTGGTGTGGTGATGTGGGTGGTGGTGGTGATGTGGGTGGTGGTGGTG ATTGTGATGGGGTGATGGTAATGTGGGTGATGGTGATTGTGGTGGTAGTG GTGGTGATGGTGA	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0052 a0001c0001t0003g0052	1	150	0.0067	312	c.914 others(329): Show c.914-2395_914-2394insAAGGGGGTGATGGTGATTGTGATGGTGG TGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGATT GTGATGGTGGTGATGGGGTGATGGTGGTGATGGGGCGATGGTGGTGATTG TGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGGTGATGGTG ATGGTGGTGATTGGTGTGGTGATGTGGGTGGTGGTGGTGATGTGGGTGGT GGTGGTGATTGTGATGGGGTGATGGTAATGTGGGTGATGGTGATTGTGGT GGTAGTGGTGGTGATGGTGATGATTGTGATGGTG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SERPINB6_chr6_2943159_2976567	2972360	C C	CAAGAAAC others(305): Show CAAGAAACTCAAACAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCAGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACAGTGAAACCCCGCCTCTACTAAAAATACAAAAAAAA TTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00609.hp2 HG00642.hp2 others(20): Show HG00280.hp2 HG00609.hp2 HG00642.hp2 HG00738.hp2 HG01070.hp2 HG01346.hp2 HG01358.hp2 HG01515.hp1 HG01517.hp2 HG03017.hp2 HG03704.hp2 HG03927.hp2 NA18941.hp1 NA18955.hp2 NA18961.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18978.hp1 NA18985.hp1 NA19076.hp2 NA19084.hp2 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0072 a0002c0003t0001g0002 a0002c0003t0001g0009 others(8): Show a0001c0001t0001g0072 a0002c0003t0001g0002 a0002c0003t0001g0009 a0002c0003t0001g0016 a0002c0003t0001g0022 a0002c0003t0001g0024 a0002c0003t0001g0048 a0002c0003t0001g0051 a0002c0003t0001g0076 a0002c0003t0001g0079 a0002c0003t0001g0213	23	384	0.0599	312	c.-83 others(321): Show c.-839_-838insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAG GCGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATG ATCCGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCCTTGTTTGAGTTTCTT	SERPINB6	ENSG00000124570.21	transcript	ENST00000380539.7	protein_coding		794		chr6	TogoVar
SETBP1_chr18_44675888_45073510	44721942	C C	CAAATCTT others(305): Show CAAATCTTTGTGGCTTCTGATAATTTGCATATTGTCACTTGTTTGCCAAC TAGAGGGTATCTGGACATGTGTATGTGAGAGGGCATCTGCGTGGACATGC ATGTGAAATCTTTGTGGCTTCTGATAATTTGCATATTGTCACTTGTTTGC CAACTAGAGGGTATCTGGACATGTGTATGTGAGAGGGCATCTGCGTGGAC ATGCATGTGAAATCTTTGTGGCTTCTGATAATTTGCATATTGTCACTTGT TTGCCAACTAGAGGGTATCTGGACATGTGTATGTGAGAGGGCATCTGCGT GGACATGCATGTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	140	0.0071	312	c.486 others(331): Show c.486+20318_486+20319insAAATCTTTGTGGCTTCTGATAATTTG CATATTGTCACTTGTTTGCCAACTAGAGGGTATCTGGACATGTGTATGTG AGAGGGCATCTGCGTGGACATGCATGTGAAATCTTTGTGGCTTCTGATAA TTTGCATATTGTCACTTGTTTGCCAACTAGAGGGTATCTGGACATGTGTA TGTGAGAGGGCATCTGCGTGGACATGCATGTGAAATCTTTGTGGCTTCTG ATAATTTGCATATTGTCACTTGTTTGCCAACTAGAGGGTATCTGGACATG TGTATGTGAGAGGGCATCTGCGTGGACATGCATGTG	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
SH3YL1_chr2_213144_269032	214424	T T	TGGGCTGC others(305): Show TGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCG GGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCGAACAGGCACCGGG CTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCCAACAGACACCGGGCT GCCCCTGCCAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGC CCCTGCCAACAGGCACCGGGCTGCCCCTGCGAACAGGCACCGGGCTGCCC CTGCCAACAGGCACCGGGCTGCCCCTGCCAACAGACACCGGGCTGCCCCT GCCAACAGGCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 NA19043.hp1 HG02109.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0082 a0001c0001t0005g0091 a0001c0001t0005g0082 a0001c0001t0005g0091	2	360	0.0056	312	c.43 others(323): Show c.4386_*4387insGGTGCCTGTTGGCAGGGGCAGCCCGGTGTCTGTT GGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTCG CAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTGGCA GGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGTCTGTTGGCAGG GGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTCGCAGGGG CAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCA GCCCGGTGCCTGTTGGCAGGGGCAGCCC	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding		3719		chr2	TogoVar
SH3YL1_chr2_213144_269032	214424	T T	TGGGCTGC others(305): Show TGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCG GGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCGAACAGGCACCGGG CTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCCAACAGACACCGGGCT GCCCCTGCCAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGC CCCTGCGAACAGGCACCGGGCTGCCCCTGCGAACAGGCACCGGGCTGCCC CTGCCAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCT GCCAACAGGCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	360	0.0028	312	c.43 others(323): Show c.4386_*4387insGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCTGTT GGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTCG CAGGGGCAGCCCGGTGCCTGTTCGCAGGGGCAGCCCGGTGCCTGTTGGCA GGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGTCTGTTGGCAGG GGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTCGCAGGGG CAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCA GCCCGGTGCCTGTTGGCAGGGGCAGCCC	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding		3719		chr2	TogoVar
SH3YL1_chr2_213144_269032	214424	T T	TGGGCTGC others(305): Show TGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCG GGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCGAACAGGCACCGGG CTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCCAACAGACACCGGGCT GCCTCTGCCAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGC CCCTGCCAACAGGCACCGGGCTGCCCCTGCGAACAGGCACCGGGCTGCCC CTGCCAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCT GCCAACAGGCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	360	0.0028	312	c.43 others(323): Show c.4386_*4387insGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCTGTT GGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTCG CAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTGGCA GGGGCAGCCCGGTGCCTGTTGGCAGAGGCAGCCCGGTGTCTGTTGGCAGG GGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTCGCAGGGG CAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCA GCCCGGTGCCTGTTGGCAGGGGCAGCCC	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding		3719		chr2	TogoVar
SH3YL1_chr2_213144_269032	214457	C C	CCTGCCAA others(305): Show CCTGCCAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCC TGCGAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTG CCAACAGACACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCC AACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCGAA CAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCCAACA GACACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCTCTGCCAACAGG CACCGGGCTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 HG01517.hp2 HG03491.hp1 HG01516.hp2 HG01517.hp2 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0001 a0001c0001t0001 a0001c0008t0001	a0001c0001t0001g0105 a0001c0001t0001g0117 a0001c0008t0001g0106 a0001c0001t0001g0105 a0001c0001t0001g0117 a0001c0008t0001g0106	3	360	0.0083	312	c.43 others(323): Show c.4353_*4354insAGGCAGCCCGGTGCCTGTTGGCAGAGGCAGCCCG GTGCCTGTTGGCAGGGGCAGCCCGGTGTCTGTTGGCAGGGGCAGCCCGGT GCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTCGCAGGGGCAGCCCGGTGC CTGTTGGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCT GTTGGCAGGGGCAGCCCGGTGTCTGTTGGCAGGGGCAGCCCGGTGCCTGT TGGCAGGGGCAGCCCGGTGCCTGTTCGCAGGGGCAGCCCGGTGCCTGTTG GCAGGGGCAGCCCGGTGCCTGTTGGCAG	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding		3686		chr2	TogoVar
SH3YL1_chr2_213144_269032	214457	C C	CCTGCCAA others(305): Show CCTGCCAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCC TGCGAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTG CCAACAGACACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCC AACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCGAA CAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCCAACA GACACCGGGCTGCCTCTGCCAACAGGCACCGGGCTGCCTCTGCCAACAGG CACCGGGCTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01099.hp1 HG02818.hp1 others(1): Show HG01074.hp2 HG01099.hp1 HG02818.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0118 a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0118	4	360	0.0111	312	c.43 others(323): Show c.4353_*4354insAGGCAGCCCGGTGCCTGTTGGCAGAGGCAGCCCG GTGCCTGTTGGCAGAGGCAGCCCGGTGTCTGTTGGCAGGGGCAGCCCGGT GCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTCGCAGGGGCAGCCCGGTGC CTGTTGGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCT GTTGGCAGGGGCAGCCCGGTGTCTGTTGGCAGGGGCAGCCCGGTGCCTGT TGGCAGGGGCAGCCCGGTGCCTGTTCGCAGGGGCAGCCCGGTGCCTGTTG GCAGGGGCAGCCCGGTGCCTGTTGGCAG	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding		3686		chr2	TogoVar
SH3YL1_chr2_213144_269032	214457	C C	CCTGCCAA others(305): Show CCTGCCAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCC TGCGAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTG CCAACAGACACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCC AACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCGAA CAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCCAACA GGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCCAACAGG CACCGGGCTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	360	0.0028	312	c.43 others(323): Show c.4353_*4354insAGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCG GTGCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGT GCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTCGCAGGGGCAGCCCGGTGC CTGTTGGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCT GTTGGCAGGGGCAGCCCGGTGTCTGTTGGCAGGGGCAGCCCGGTGCCTGT TGGCAGGGGCAGCCCGGTGCCTGTTCGCAGGGGCAGCCCGGTGCCTGTTG GCAGGGGCAGCCCGGTGCCTGTTGGCAG	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding		3686		chr2	TogoVar
SH3YL1_chr2_213144_269032	214457	C C	CCTGCCAA others(305): Show CCTGCCAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCC TGCGAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTG CCAACAGACACCGGGCTGCCTCTGCCAACAGGCACCGGGCTGCCCCTGCC AACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCGAA CAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCCAACA GACACCGGGCTGCCTCTGCCAACAGGCACCGGGCTGCCTCTGCCAACAGG CACCGGGCTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	360	0.0028	312	c.43 others(323): Show c.4353_*4354insAGGCAGCCCGGTGCCTGTTGGCAGAGGCAGCCCG GTGCCTGTTGGCAGAGGCAGCCCGGTGTCTGTTGGCAGGGGCAGCCCGGT GCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTCGCAGGGGCAGCCCGGTGC CTGTTGGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCT GTTGGCAGAGGCAGCCCGGTGTCTGTTGGCAGGGGCAGCCCGGTGCCTGT TGGCAGGGGCAGCCCGGTGCCTGTTCGCAGGGGCAGCCCGGTGCCTGTTG GCAGGGGCAGCCCGGTGCCTGTTGGCAG	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding		3686		chr2	TogoVar
SH3YL1_chr2_213144_269032	214457	C C	CCTGCCAA others(305): Show CCTGCCAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCC TGCGAACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTG CCAACAGACACCGGGCTGCCTCTGCCAACAGGCACCGGGCTGCCCCTGCC AACAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCGAA CAGGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCCAACA GGCACCGGGCTGCCCCTGCCAACAGGCACCGGGCTGCCCCTGCCAACAGG CACCGGGCTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 NA20905.hp2 HG00609.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0086 a0001c0001t0001g0087	2	360	0.0056	312	c.43 others(323): Show c.4353_*4354insAGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCG GTGCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGT GCCTGTTGGCAGGGGCAGCCCGGTGCCTGTTCGCAGGGGCAGCCCGGTGC CTGTTGGCAGGGGCAGCCCGGTGCCTGTTGGCAGGGGCAGCCCGGTGCCT GTTGGCAGAGGCAGCCCGGTGTCTGTTGGCAGGGGCAGCCCGGTGCCTGT TGGCAGGGGCAGCCCGGTGCCTGTTCGCAGGGGCAGCCCGGTGCCTGTTG GCAGGGGCAGCCCGGTGCCTGTTGGCAG	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding		3686		chr2	TogoVar

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