Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
RBM47_chr4_40418280_40634864	40528949	A A	ATAAATAA others(2): Show ATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00558.hp2 others(12): Show HG00099.hp2 HG00140.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG01099.hp2 HG01346.hp1 HG02602.hp2 HG03579.hp1 HG03834.hp1 HG04204.hp2 HG04228.hp2 NA18944.hp1 NA18947.hp1 NA18975.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0008 a0001c0001t0012 others(8): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0012 a0001c0001t0022 a0001c0001t0052 a0001c0003t0004 a0001c0003t0010 a0001c0004t0012 a0002c0002t0002 a0002c0002t0012 a0002c0002t0050	a0001c0001t0001g0195 a0001c0001t0008g0203 a0001c0001t0012g0245 others(12): Show a0001c0001t0001g0195 a0001c0001t0008g0203 a0001c0001t0012g0245 a0001c0001t0012g0252 a0001c0001t0022g0184 a0001c0001t0052g0198 a0001c0003t0004g0065 a0001c0003t0004g0215 a0001c0003t0010g0122 a0001c0004t0012g0223 a0002c0002t0002g0059 a0002c0002t0002g0146 a0002c0002t0002g0175 a0002c0002t0012g0266 a0002c0002t0050g0193	15	218	0.0688	9	c.-15 others(30): Show c.-155+15472_-155+15473insATTTATTTA	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	2/6			chr4	TogoVar
RBM47_chr4_40418280_40634864	40604714	T T	TTTGTTGT others(2): Show TTTGTTGTTG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02257.hp2 HG02486.hp2 others(10): Show HG01891.hp2 HG02257.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp2 HG02895.hp2 HG03130.hp1 HG03486.hp2 HG03579.hp2 NA19079.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(5): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0002c0002 a0002c0007 a0002c0015 a0002c0025	a0001c0001t0011 a0001c0001t0021 a0001c0003t0011 others(8): Show a0001c0001t0011 a0001c0001t0021 a0001c0003t0011 a0001c0004t0033 a0001c0006t0013 a0001c0006t0041 a0002c0002t0002 a0002c0002t0004 a0002c0007t0020 a0002c0015t0014 a0002c0025t0049	a0001c0001t0011g0073 a0001c0001t0021g0067 a0001c0003t0011g0082 others(10): Show a0001c0001t0011g0073 a0001c0001t0021g0067 a0001c0003t0011g0082 a0001c0004t0033g0001 a0001c0006t0013g0070 a0001c0006t0041g0068 a0002c0002t0002g0035 a0002c0002t0004g0054 a0002c0007t0020g0072 a0002c0007t0020g0074 a0002c0007t0020g0075 a0002c0015t0014g0081 a0002c0025t0049g0202	13	181	0.0718	9	c.-24 others(30): Show c.-240+24673_-240+24681dupCAACAACAA	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	1/6			chr4	TogoVar
RBMS2_chr12_56516820_56601193	56533408	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02615.hp2 HG03225.hp1 others(4): Show HG01361.hp1 HG02615.hp2 HG03225.hp1 HG03927.hp2 NA18960.hp2 NA19009.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0012 a0001c0001t0070 a0001c0002t0002	a0001c0001t0001g0121 a0001c0001t0003g0163 a0001c0001t0003g0164 others(4): Show a0001c0001t0001g0121 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0007g0162 a0001c0001t0012g0114 a0001c0001t0070g0192 a0001c0002t0002g0211	7	74	0.0946	9	c.66+ others(26): Show c.66+11336_66+11344dupTTTTTTTTT	RBMS2	ENSG00000076067.14	transcript	ENST00000262031.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
RBMS2_chr12_56516820_56601193	56577456	A A	AATTATTA others(2): Show AATTATTATT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02572.hp1 HG03195.hp1 others(2): Show HG02257.hp2 HG02572.hp1 HG03195.hp1 HG03471.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0006 a0001c0001t0019 a0001c0002t0002 others(2): Show a0001c0001t0006 a0001c0001t0019 a0001c0002t0002 a0001c0002t0006 a0001c0003t0072	a0001c0001t0006g0180 a0001c0001t0019g0112 a0001c0002t0002g0084 others(2): Show a0001c0001t0006g0180 a0001c0001t0019g0112 a0001c0002t0002g0084 a0001c0002t0006g0092 a0001c0003t0072g0094	5	191	0.0262	9	c.543 others(26): Show c.543-3700_543-3692dupATTATTATT	RBMS2	ENSG00000076067.14	transcript	ENST00000262031.10	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
RBMS3_chr3_29276071_30015386	29384417	C C	CAATAATA others(2): Show CAATAATAAT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG02257.hp1 HG03017.hp1 others(2): Show HG01071.hp1 HG02257.hp1 HG03017.hp1 HG03453.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0011 a0001c0001t0014 others(2): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0014 a0001c0002t0006 a0001c0002t0046	a0001c0001t0001g0046 a0001c0001t0011g0035 a0001c0001t0014g0073 others(2): Show a0001c0001t0001g0046 a0001c0001t0011g0035 a0001c0001t0014g0073 a0001c0002t0006g0064 a0001c0002t0046g0107	5	79	0.0633	9	c.76- others(26): Show c.76-50314_76-50306dupTAATAATAA	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMS3_chr3_29276071_30015386	29384435	T T	TAATAAGA others(2): Show TAATAAGAAG	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02155.hp1 NA18944.hp1 HG01934.hp2 HG02155.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0026 a0001c0001t0029 a0001c0001t0001 a0001c0001t0026 a0001c0001t0029	a0001c0001t0001g0041 a0001c0001t0026g0113 a0001c0001t0029g0116 a0001c0001t0001g0041 a0001c0001t0026g0113 a0001c0001t0029g0116	3	43	0.0698	9	c.76- others(26): Show c.76-50306_76-50305insTAAGAAGAA	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMS3_chr3_29276071_30015386	29384435	T T	TAATAATA others(2): Show TAATAATAAG	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01515.hp2 HG02922.hp2 others(2): Show HG01169.hp1 HG01515.hp2 HG02922.hp2 HG02965.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0021 a0001c0001t0063 a0001c0001t0075 others(2): Show a0001c0001t0021 a0001c0001t0063 a0001c0001t0075 a0001c0002t0001 a0001c0003t0009	a0001c0001t0021g0108 a0001c0001t0063g0068 a0001c0001t0075g0059 others(2): Show a0001c0001t0021g0108 a0001c0001t0063g0068 a0001c0001t0075g0059 a0001c0002t0001g0015 a0001c0003t0009g0039	5	45	0.1111	9	c.76- others(26): Show c.76-50306_76-50305insTAATAAGAA	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMS3_chr3_29276071_30015386	29569976	A A	AGTTGCAT others(2): Show AGTTGCATGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(108): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG01071.hp1 HG01071.hp2 HG01106.hp1 HG01106.hp2 HG01169.hp1 HG01169.hp2 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02083.hp1 HG02083.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18944.hp1 NA18944.hp2 NA18957.hp1 NA18957.hp2 NA18982.hp1 NA18982.hp2 NA18994.hp1 NA18994.hp2 NA19009.hp1 NA19009.hp2 NA19240.hp1 NA19240.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(86): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0040 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0048 a0001c0001t0049 a0001c0001t0051 a0001c0001t0052 a0001c0001t0054 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0082 a0001c0001t0083 a0001c0001t0085 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0010 a0001c0002t0018 a0001c0002t0031 a0001c0002t0034 a0001c0002t0039 a0001c0002t0041 a0001c0002t0046 a0001c0002t0047 a0001c0002t0050 a0001c0002t0053 a0001c0002t0081 a0001c0002t0086 a0001c0003t0009 a0001c0003t0064 a0001c0004t0059 a0002c0005t0055	a0001c0001t0001g0041 a0001c0001t0001g0046 a0001c0001t0002g0028 others(108): Show a0001c0001t0001g0041 a0001c0001t0001g0046 a0001c0001t0002g0028 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0057 a0001c0001t0003g0025 a0001c0001t0003g0065 a0001c0001t0003g0089 a0001c0001t0004g0099 a0001c0001t0004g0100 a0001c0001t0005g0003 a0001c0001t0005g0008 a0001c0001t0006g0052 a0001c0001t0007g0070 a0001c0001t0007g0080 a0001c0001t0008g0078 a0001c0001t0008g0082 a0001c0001t0010g0097 a0001c0001t0011g0033 a0001c0001t0011g0035 a0001c0001t0012g0004 a0001c0001t0012g0034 a0001c0001t0013g0005 a0001c0001t0013g0020 a0001c0001t0014g0073 a0001c0001t0014g0077 a0001c0001t0015g0027 a0001c0001t0015g0050 a0001c0001t0016g0063 a0001c0001t0016g0075 a0001c0001t0017g0076 a0001c0001t0017g0081 a0001c0001t0019g0054 a0001c0001t0019g0055 a0001c0001t0020g0110 a0001c0001t0020g0112 a0001c0001t0021g0032 a0001c0001t0021g0108 a0001c0001t0022g0012 a0001c0001t0022g0093 a0001c0001t0023g0053 a0001c0001t0024g0019 a0001c0001t0025g0009 a0001c0001t0026g0113 a0001c0001t0027g0090 a0001c0001t0028g0038 a0001c0001t0029g0116 a0001c0001t0030g0044 a0001c0001t0032g0115 a0001c0001t0033g0042 a0001c0001t0035g0105 a0001c0001t0036g0047 a0001c0001t0037g0103 a0001c0001t0038g0094 a0001c0001t0040g0102 a0001c0001t0042g0095 a0001c0001t0043g0101 a0001c0001t0044g0061 a0001c0001t0045g0010 a0001c0001t0048g0084 a0001c0001t0049g0007 a0001c0001t0051g0083 a0001c0001t0052g0022 a0001c0001t0054g0018 a0001c0001t0056g0024 a0001c0001t0057g0045 a0001c0001t0058g0021 a0001c0001t0060g0013 a0001c0001t0061g0002 a0001c0001t0062g0086 a0001c0001t0063g0068 a0001c0001t0065g0051 a0001c0001t0066g0098 a0001c0001t0067g0106 a0001c0001t0068g0109 a0001c0001t0069g0001 a0001c0001t0070g0074 a0001c0001t0071g0079 a0001c0001t0072g0072 a0001c0001t0074g0029 a0001c0001t0075g0059 a0001c0001t0076g0087 a0001c0001t0077g0056 a0001c0001t0078g0066 a0001c0001t0079g0111 a0001c0001t0080g0031 a0001c0001t0082g0030 a0001c0001t0083g0017 a0001c0001t0085g0014 a0001c0002t0001g0015 a0001c0002t0001g0043 a0001c0002t0004g0092 a0001c0002t0005g0006 a0001c0002t0006g0064 a0001c0002t0010g0096 a0001c0002t0018g0058 a0001c0002t0031g0037 a0001c0002t0034g0114 a0001c0002t0039g0091 a0001c0002t0041g0104 a0001c0002t0046g0107 a0001c0002t0047g0036 a0001c0002t0050g0023 a0001c0002t0053g0011 a0001c0002t0081g0016 a0001c0002t0086g0067 a0001c0003t0009g0039 a0001c0003t0064g0071 a0001c0004t0059g0026 a0002c0005t0055g0085	111	114	0.9737	9	c.308 others(28): Show c.308-17133_308-17132insATGTGTTGC	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMS3_chr3_29276071_30015386	29817192	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01891.hp2 HG02451.hp1 others(3): Show HG01517.hp2 HG01891.hp2 HG02451.hp1 HG02896.hp2 NA18522.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0001t0008 a0001c0001t0033 others(3): Show a0001c0001t0007 a0001c0001t0008 a0001c0001t0033 a0001c0001t0037 a0001c0001t0067 a0001c0002t0086	a0001c0001t0007g0080 a0001c0001t0008g0078 a0001c0001t0033g0042 others(3): Show a0001c0001t0007g0080 a0001c0001t0008g0078 a0001c0001t0033g0042 a0001c0001t0037g0103 a0001c0001t0067g0106 a0001c0002t0086g0067	6	48	0.1250	9	c.638 others(28): Show c.638-51661_638-51653dupTTTTTTTTT	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBMS3_chr3_29276071_30015386	29884470	C C	CTCTCTCT others(2): Show CTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG04228.hp2 HG02895.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0022 a0001c0002t0039 a0001c0001t0022 a0001c0002t0039	a0001c0001t0022g0093 a0001c0002t0039g0091 a0001c0001t0022g0093 a0001c0002t0039g0091	2	108	0.0185	9	c.791 others(24): Show c.791+262_791+263insTCTCTCTCT	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	8/14			chr3	TogoVar
RBMS3_chr3_29276071_30015386	29930109	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01928.hp1 HG02257.hp2 others(4): Show HG00140.hp2 HG01928.hp1 HG02257.hp2 HG03195.hp1 HG03710.hp2 HG04228.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0020 a0001c0001t0040 others(4): Show a0001c0001t0001 a0001c0001t0020 a0001c0001t0040 a0001c0001t0058 a0001c0001t0060 a0001c0002t0039 a0001c0002t0086	a0001c0001t0001g0046 a0001c0001t0020g0112 a0001c0001t0040g0102 others(4): Show a0001c0001t0001g0046 a0001c0001t0020g0112 a0001c0001t0040g0102 a0001c0001t0058g0021 a0001c0001t0060g0013 a0001c0002t0039g0091 a0001c0002t0086g0067	7	24	0.2917	9	c.940 others(26): Show c.940-5965_940-5957dupTTTTTTTTT	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBPJL_chr20_45301840_45322824	45305805	C C	CTTTTTTT others(2): Show CTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp2 HG01167.hp2 others(8): Show HG00741.hp1 HG00741.hp2 HG01167.hp2 HG01258.hp2 HG02258.hp1 HG02486.hp1 HG02486.hp2 HG02818.hp1 HG03471.hp2 NA18906.hp1 NA19010.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0002c0004 others(1): Show a0001c0001 a0001c0002 a0002c0004 a0006c0009	a0001c0001t0001 a0001c0002t0001 a0002c0004t0004 others(1): Show a0001c0001t0001 a0001c0002t0001 a0002c0004t0004 a0006c0009t0001	a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0002t0001g0001 others(3): Show a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0002t0001g0001 a0002c0004t0004g0018 a0002c0004t0004g0070 a0006c0009t0001g0026	11	20	0.5500	9	c.-11 others(20): Show c.-1118_-1117insTTTTTTTTT	RBPJL	ENSG00000124232.11	transcript	ENST00000343694.8	protein_coding		1034		chr20	TogoVar
RBPMS_chr8_30379541_30577256	30401615	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01070.hp1 HG01071.hp1 others(12): Show HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01123.hp1 HG01433.hp2 HG01515.hp2 HG01978.hp1 HG02572.hp2 HG02615.hp1 HG04204.hp2 NA18946.hp1 NA19009.hp2 NA19081.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0024 a0002c0002t0002	a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0026 others(12): Show a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0026 a0001c0001t0001g0037 a0001c0001t0001g0165 a0001c0001t0004g0023 a0001c0001t0004g0213 a0001c0001t0005g0080 a0001c0001t0005g0081 a0001c0001t0005g0082 a0001c0001t0005g0294 a0001c0001t0005g0295 a0001c0001t0008g0296 a0001c0001t0024g0012 a0002c0002t0002g0303	15	110	0.1364	9	c.66+ others(26): Show c.66+16471_66+16479dupTTTTTTTTT	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30518687	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01069.hp2 HG01071.hp1 others(11): Show HG00099.hp2 HG01069.hp2 HG01071.hp1 HG01192.hp2 HG01433.hp1 HG01517.hp1 HG02129.hp1 HG02258.hp2 HG03098.hp2 HG03491.hp1 HG03492.hp2 NA18522.hp2 NA18966.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0168 others(11): Show a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0230 a0001c0001t0002g0059 a0001c0001t0003g0071 a0001c0001t0003g0137 a0001c0001t0003g0139 a0001c0001t0003g0241 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0249 a0001c0001t0003g0252 a0001c0001t0003g0292	14	29	0.4828	9	c.397 others(28): Show c.397+14271_397+14279dupTTTTTTTTT	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30549796	C C	CTCTCTCT others(2): Show CTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01496.hp2 HG02074.hp2 others(12): Show HG01243.hp2 HG01496.hp2 HG02074.hp2 HG02630.hp1 HG02738.hp1 NA18747.hp2 NA18946.hp1 NA18955.hp1 NA18979.hp2 NA19003.hp1 NA19005.hp1 NA19009.hp2 NA19081.hp1 NA19084.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0024	a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0003g0153 others(12): Show a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0003g0153 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0182 a0001c0001t0003g0225 a0001c0001t0004g0023 a0001c0001t0004g0213 a0001c0001t0005g0300 a0001c0001t0006g0068 a0001c0001t0007g0160 a0001c0001t0012g0146 a0001c0001t0024g0012	15	190	0.0789	9	c.528 others(26): Show c.528+5172_528+5173insTCTCTCTCT	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	6/8			chr8	TogoVar
RBSN_chr3_15065073_15104148	15091210	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01952.hp1 HG02451.hp2 others(3): Show HG01358.hp2 HG01952.hp1 HG02451.hp2 HG02683.hp1 HG03831.hp1 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0002g0105 others(3): Show a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0002g0105 a0001c0001t0002g0226 a0001c0001t0005g0094 a0001c0001t0005g0095	6	14	0.4286	9	c.149 others(24): Show c.149-680_149-672dupTTTTTTTTT	RBSN	ENSG00000131381.12	transcript	ENST00000253699.7	protein_coding	4/13			chr3	TogoVar
RC3H1_chr1_173926084_174027357	173929804	A A	ATTTTTTT others(2): Show ATTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG01123.hp1 HG01192.hp2 others(13): Show HG00323.hp2 HG01123.hp1 HG01192.hp2 HG02293.hp2 HG02602.hp1 HG02698.hp1 HG02735.hp1 HG02965.hp2 HG03041.hp2 HG03540.hp2 NA18945.hp2 NA18953.hp2 NA19043.hp1 NA19084.hp2 NA19086.hp2 NA20805.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0001c0005 a0001c0007 others(1): Show a0001c0001 a0001c0005 a0001c0007 a0010c0012	a0001c0001t0002 a0001c0001t0009 a0001c0001t0013 others(3): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0013 a0001c0005t0048 a0001c0007t0026 a0010c0012t0002	a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0253 others(13): Show a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0253 a0001c0001t0002g0255 a0001c0001t0002g0263 a0001c0001t0002g0267 a0001c0001t0002g0269 a0001c0001t0002g0272 a0001c0001t0002g0278 a0001c0001t0009g0298 a0001c0001t0009g0300 a0001c0001t0013g0247 a0001c0005t0048g0070 a0001c0007t0026g0079 a0001c0007t0026g0080 a0010c0012t0002g0249	16	159	0.1006	9	c.89 others(20): Show c.8916_*8917insAAAAAAAAA	RC3H1	ENSG00000135870.12	transcript	ENST00000367696.7	protein_coding		1279		chr1	TogoVar
RC3H1_chr1_173926084_174027357	173942428	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp2 HG02486.hp2 others(6): Show HG02109.hp1 HG02109.hp2 HG02486.hp2 HG02615.hp1 HG02622.hp1 HG02976.hp2 HG03041.hp1 HG03139.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0023 a0001c0001t0063 a0001c0001t0097 others(3): Show a0001c0001t0023 a0001c0001t0063 a0001c0001t0097 a0001c0002t0014 a0001c0002t0028 a0001c0002t0098	a0001c0001t0023g0095 a0001c0001t0023g0096 a0001c0001t0063g0081 others(6): Show a0001c0001t0023g0095 a0001c0001t0023g0096 a0001c0001t0063g0081 a0001c0001t0097g0304 a0001c0002t0014g0086 a0001c0002t0014g0090 a0001c0002t0028g0085 a0001c0002t0028g0089 a0001c0002t0098g0305	9	117	0.0769	9	c.313 others(28): Show c.3135+1005_3135+1013dupTTTTTTTTT	RC3H1	ENSG00000135870.12	transcript	ENST00000367696.7	protein_coding	18/19			chr1	TogoVar
RC3H1_chr1_173926084_174027357	174017783	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00609.hp1 HG00673.hp1 others(15): Show HG00544.hp1 HG00609.hp1 HG00673.hp1 HG02015.hp1 HG02055.hp2 HG02056.hp2 HG02523.hp1 HG02602.hp2 HG02895.hp2 HG03492.hp2 HG03927.hp1 HG04199.hp1 NA18522.hp2 NA18947.hp1 NA18956.hp1 NA18975.hp2 NA19063.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 others(5): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 a0001c0001t0016 a0001c0001t0019 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036	a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0033 others(15): Show a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0033 a0001c0001t0003g0063 a0001c0001t0006g0283 a0001c0001t0006g0284 a0001c0001t0011g0029 a0001c0001t0011g0031 a0001c0001t0011g0035 a0001c0001t0016g0038 a0001c0001t0016g0039 a0001c0001t0019g0030 a0001c0001t0034g0032 a0001c0001t0034g0040 a0001c0001t0035g0037 a0001c0001t0035g0041 a0001c0001t0036g0034 a0001c0001t0036g0036	18	76	0.2368	9	c.-15 others(28): Show c.-151+4304_-151+4312dupTTTTTTTTT	RC3H1	ENSG00000135870.12	transcript	ENST00000367696.7	protein_coding	1/19			chr1	TogoVar
RC3H2_chr9_122839556_122910359	122859252	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01175.hp2 HG02155.hp1 others(13): Show HG01099.hp2 HG01175.hp2 HG02155.hp1 HG02451.hp1 HG02559.hp1 HG02622.hp2 HG02818.hp2 NA18945.hp1 NA18962.hp2 NA18963.hp2 NA18971.hp1 NA19004.hp2 NA19067.hp2 NA19068.hp2 NA19085.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0002c0003	a0001c0001t0010 a0001c0002t0002 a0001c0004t0004 others(3): Show a0001c0001t0010 a0001c0002t0002 a0001c0004t0004 a0001c0005t0004 a0002c0003t0002 a0002c0003t0012	a0001c0001t0010g0195 a0001c0001t0010g0231 a0001c0002t0002g0070 others(13): Show a0001c0001t0010g0195 a0001c0001t0010g0231 a0001c0002t0002g0070 a0001c0002t0002g0084 a0001c0002t0002g0133 a0001c0004t0004g0013 a0001c0004t0004g0117 a0001c0005t0004g0047 a0001c0005t0004g0091 a0001c0005t0004g0122 a0002c0003t0002g0016 a0002c0003t0002g0017 a0002c0003t0002g0018 a0002c0003t0002g0021 a0002c0003t0002g0022 a0002c0003t0012g0020	16	28	0.5714	9	c.185 others(26): Show c.1850-159_1850-151dupAAAAAAAAA	RC3H2	ENSG00000056586.16	transcript	ENST00000357244.7	protein_coding	11/20			chr9	TogoVar
RCAN1_chr21_34511442_34620113	34556429	A A	AAATAATA others(2): Show AAATAATAAT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02622.hp2 HG02630.hp1 others(10): Show HG02027.hp1 HG02622.hp2 HG02630.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03471.hp2 NA18951.hp1 NA18952.hp2 NA18986.hp2 NA19009.hp2 NA19011.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0022 a0001c0001t0001g0108 a0001c0001t0001g0132 others(10): Show a0001c0001t0001g0022 a0001c0001t0001g0108 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0256 a0001c0001t0001g0273 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0002g0053 a0001c0001t0004g0364	13	23	0.5652	9	c.253 others(28): Show c.253-32728_253-32720dupATTATTATT	RCAN1	ENSG00000159200.18	transcript	ENST00000313806.9	protein_coding	1/3			chr21	TogoVar
RCBTB1_chr13_49526946_49590558	49547263	G G	GCACCCTT others(2): Show GCACCCTTGC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01106.hp1 HG06807.hp1 HG01070.hp1 HG01106.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0330 a0001c0001t0009g0331 a0001c0001t0009g0375 a0001c0001t0009g0330 a0001c0001t0009g0331 a0001c0001t0009g0375	3	416	0.0072	9	c.104 others(28): Show c.1045+2194_1045+2195insGCAAGGGTG	RCBTB1	ENSG00000136144.12	transcript	ENST00000378302.7	protein_coding	9/12			chr13	TogoVar
RCBTB2_chr13_48483963_48538080	48493262	C C	CACACACA others(2): Show CACACACACA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02896.hp1 HG02970.hp2 HG02257.hp2 HG02896.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041	3	300	0.0100	9	c.151 others(28): Show c.1515+2928_1515+2929insTGTGTGTGT	RCBTB2	ENSG00000136161.13	transcript	ENST00000344532.8	protein_coding	14/14			chr13	TogoVar
RCBTB2_chr13_48483963_48538080	48527356	T T	TATATATA others(2): Show TATATATATG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp1 HG02145.hp2 others(8): Show HG01884.hp1 HG02055.hp1 HG02145.hp2 HG02922.hp1 HG02965.hp1 HG03041.hp2 HG03130.hp1 HG03471.hp1 NA18906.hp1 NA19240.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0004t0004 a0001c0001t0001 a0001c0001t0002 a0001c0004t0004	a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 others(7): Show a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0002g0244 a0001c0004t0004g0021 a0001c0004t0004g0216 a0001c0004t0004g0217 a0001c0004t0004g0218	11	278	0.0396	9	c.-21 others(28): Show c.-218-2600_-218-2599insCATATATAT	RCBTB2	ENSG00000136161.13	transcript	ENST00000344532.8	protein_coding	1/14			chr13	TogoVar
RCHY1_chr4_75474033_75519403	75487630	A A	ATATATAT others(2): Show ATATATATTC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01261.hp1 HG01891.hp2 others(6): Show HG00621.hp1 HG01261.hp1 HG01891.hp2 HG02132.hp2 HG02922.hp1 HG03130.hp1 HG04204.hp2 NA18940.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0030 a0001c0001t0001 a0001c0001t0005 a0001c0001t0030	a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 others(6): Show a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0005g0158 a0001c0001t0030g0153	9	293	0.0307	9	c.657 others(26): Show c.657+2950_657+2951insGAATATATA	RCHY1	ENSG00000163743.14	transcript	ENST00000324439.10	protein_coding	8/8			chr4	TogoVar
RCL1_chr9_4787944_4866066	4851885	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01081.hp2 HG01109.hp1 others(10): Show HG00735.hp1 HG01081.hp2 HG01109.hp1 HG01433.hp2 HG01934.hp2 HG01975.hp2 NA18612.hp1 NA18979.hp2 NA19007.hp2 NA19010.hp2 NA19011.hp2 NA19072.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0007 a0001c0003t0002 a0001c0001t0003 a0001c0001t0007 a0001c0003t0002	a0001c0001t0003g0054 a0001c0001t0003g0059 a0001c0001t0003g0119 others(10): Show a0001c0001t0003g0054 a0001c0001t0003g0059 a0001c0001t0003g0119 a0001c0001t0003g0137 a0001c0001t0007g0040 a0001c0001t0007g0043 a0001c0001t0007g0044 a0001c0001t0007g0045 a0001c0001t0007g0047 a0001c0001t0007g0048 a0001c0001t0007g0049 a0001c0001t0007g0334 a0001c0003t0002g0145	13	44	0.2955	9	c.971 others(26): Show c.971+2340_971+2348dupTTTTTTTTT	RCL1	ENSG00000120158.12	transcript	ENST00000381750.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
RCL1_chr9_4787944_4866066	4857931	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00735.hp1 HG01081.hp2 others(30): Show HG00621.hp2 HG00735.hp1 HG01081.hp2 HG01433.hp2 HG01928.hp1 HG01934.hp2 HG01975.hp2 HG02056.hp2 HG02145.hp1 HG02293.hp1 HG03041.hp2 HG03688.hp1 HG03831.hp2 HG04184.hp1 HG06807.hp2 NA18612.hp1 NA18956.hp1 NA18959.hp2 NA18977.hp1 NA18985.hp1 NA18991.hp1 NA18993.hp1 NA18994.hp1 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19072.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0018 a0001c0001t0033 a0001c0003t0002	a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0112 others(30): Show a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0117 a0001c0001t0001g0123 a0001c0001t0001g0134 a0001c0001t0001g0164 a0001c0001t0001g0172 a0001c0001t0001g0176 a0001c0001t0001g0263 a0001c0001t0002g0110 a0001c0001t0003g0054 a0001c0001t0003g0062 a0001c0001t0003g0072 a0001c0001t0003g0091 a0001c0001t0003g0119 a0001c0001t0003g0130 a0001c0001t0003g0137 a0001c0001t0003g0139 a0001c0001t0004g0158 a0001c0001t0007g0040 a0001c0001t0007g0043 a0001c0001t0007g0044 a0001c0001t0007g0045 a0001c0001t0007g0047 a0001c0001t0007g0049 a0001c0001t0007g0334 a0001c0001t0009g0171 a0001c0001t0011g0060 a0001c0001t0013g0366 a0001c0001t0018g0294 a0001c0001t0033g0184 a0001c0003t0002g0145	33	77	0.4286	9	c.972 others(26): Show c.972-2183_972-2175dupTTTTTTTTT	RCL1	ENSG00000120158.12	transcript	ENST00000381750.9	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
RCOR1_chr14_102587649_102735561	102632680	T T	TTTCCTTT others(2): Show TTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02055.hp1 NA19074.hp2 HG01175.hp1 HG02055.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0011 a0001c0001t0003 a0001c0001t0007 a0001c0001t0011	a0001c0001t0003g0106 a0001c0001t0007g0034 a0001c0001t0011g0047 a0001c0001t0003g0106 a0001c0001t0007g0034 a0001c0001t0011g0047	3	281	0.0107	9	c.361 others(28): Show c.361+39357_361+39358insCCTTTCCTT	RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
RCOR1_chr14_102587649_102735561	102706114	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01192.hp1 HG01361.hp2 others(21): Show HG00639.hp2 HG01192.hp1 HG01361.hp2 HG01433.hp1 HG01934.hp1 HG01952.hp2 HG02040.hp2 HG02155.hp1 HG02293.hp1 HG02738.hp2 HG02965.hp1 HG03942.hp1 NA18954.hp1 NA18967.hp2 NA18972.hp2 NA18980.hp2 NA18990.hp2 NA19010.hp2 NA19011.hp2 NA19056.hp1 NA19070.hp2 NA19079.hp1 NA19080.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0013 a0001c0001t0016 a0001c0001t0048	a0001c0001t0002g0162 a0001c0001t0002g0170 a0001c0001t0002g0218 others(21): Show a0001c0001t0002g0162 a0001c0001t0002g0170 a0001c0001t0002g0218 a0001c0001t0002g0221 a0001c0001t0002g0225 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0238 a0001c0001t0002g0241 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0249 a0001c0001t0002g0288 a0001c0001t0004g0167 a0001c0001t0005g0132 a0001c0001t0007g0219 a0001c0001t0007g0234 a0001c0001t0013g0292 a0001c0001t0016g0281 a0001c0001t0016g0282 a0001c0001t0048g0179	24	93	0.2581	9	c.499 others(26): Show c.499-1217_499-1209dupAAAAAAAAA	RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
RCOR3_chr1_211254366_211321385	211261923	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00642.hp1 HG00738.hp2 others(84): Show HG00597.hp2 HG00642.hp1 HG00738.hp2 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01516.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG02027.hp2 HG02055.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02257.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02630.hp1 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03669.hp1 HG03688.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04184.hp1 HG04228.hp2 HG06807.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18943.hp1 NA18943.hp2 NA18946.hp2 NA18950.hp1 NA18952.hp1 NA18965.hp1 NA18965.hp2 NA18969.hp1 NA18973.hp1 NA18977.hp1 NA18977.hp2 NA18990.hp1 NA18990.hp2 NA18995.hp1 NA18999.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp2 NA19010.hp1 NA19012.hp1 NA19030.hp1 NA19054.hp1 NA19060.hp1 NA19060.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19077.hp2 NA19081.hp2 NA19082.hp2 NA19083.hp1 NA19084.hp2 NA19088.hp1 NA19089.hp1 NA19089.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0012 a0001c0002t0001 a0001c0002t0006 a0001c0002t0017 a0001c0003t0001	a0001c0001t0001g0007 a0001c0001t0001g0020 a0001c0001t0001g0023 others(81): Show a0001c0001t0001g0007 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0144 a0001c0001t0001g0243 a0001c0001t0001g0254 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0026 a0001c0001t0002g0082 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0004g0255 a0001c0001t0004g0256 a0001c0001t0004g0293 a0001c0001t0010g0097 a0001c0001t0010g0103 a0001c0001t0012g0117 a0001c0002t0001g0027 a0001c0002t0001g0127 a0001c0002t0001g0131 a0001c0002t0001g0133 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0006g0126 a0001c0002t0006g0135 a0001c0002t0017g0128 a0001c0003t0001g0129 a0001c0003t0001g0130 a0001c0003t0001g0132 a0001c0003t0001g0134 a0001c0003t0001g0136 a0001c0003t0001g0137 a0001c0003t0001g0141	87	123	0.7073	9	c.223 others(26): Show c.223+1769_223+1777dupAAAAAAAAA	RCOR3	ENSG00000117625.14	transcript	ENST00000419091.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
RCOR3_chr1_211254366_211321385	211318493	C C	CTTTTTTT others(2): Show CTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00597.hp1 HG00738.hp1 others(35): Show HG00099.hp2 HG00597.hp1 HG00738.hp1 HG01081.hp1 HG01168.hp1 HG01169.hp1 HG01243.hp1 HG01934.hp1 HG02165.hp2 HG02257.hp1 HG02280.hp1 HG02602.hp2 HG02886.hp1 HG02970.hp1 HG02976.hp1 HG03098.hp1 HG03195.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03688.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18747.hp2 NA18942.hp2 NA18949.hp2 NA18950.hp2 NA18952.hp2 NA18986.hp2 NA19005.hp1 NA19011.hp2 NA19089.hp1 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0016 a0001c0003t0001	a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0001g0031 others(31): Show a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0062 a0001c0001t0001g0144 a0001c0001t0001g0222 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0002g0001 a0001c0001t0002g0158 a0001c0001t0002g0190 a0001c0001t0003g0003 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0232 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0009g0016 a0001c0001t0009g0228 a0001c0001t0016g0231 a0001c0003t0001g0129	38	83	0.4578	9	c.47 others(20): Show c.4725_*4726insTTTTTTTTT	RCOR3	ENSG00000117625.14	transcript	ENST00000419091.7	protein_coding		2109		chr1	TogoVar
REC114_chr15_73438164_73565013	73539282	A A	ATTTTTTT others(2): Show ATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03130.hp2 HG03209.hp2 others(2): Show HG02280.hp2 HG03130.hp2 HG03209.hp2 NA18981.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0161 a0001c0001t0002g0172 a0001c0001t0002g0177 others(2): Show a0001c0001t0002g0161 a0001c0001t0002g0172 a0001c0001t0002g0177 a0002c0002t0002g0156 a0002c0002t0002g0158	5	49	0.1020	9	c.250 others(26): Show c.250-1185_250-1177dupTTTTTTTTT	REC114	ENSG00000183324.11	transcript	ENST00000331090.11	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
RECK_chr9_36031913_36129455	36099224	T T	TCAACAAC others(2): Show TCAACAACAA	intron_variant intron_variant	MODIFIER	HG03834.hp1 NA18960.hp1 NA19086.hp1 HG03834.hp1 NA18960.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0147 a0001c0001t0001g0159 a0001c0001t0001g0160	3	123	0.0244	9	c.108 others(28): Show c.1086-1068_1086-1060dupACAACAACA	RECK	ENSG00000122707.12	transcript	ENST00000377966.4	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
RECK_chr9_36031913_36129455	36115315	A A	AAATAATA others(2): Show AAATAATAAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02572.hp1 HG02630.hp2 others(3): Show HG01243.hp1 HG02572.hp1 HG02630.hp2 HG02647.hp1 HG02896.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 others(3): Show a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0004t0001g0376 a0001c0004t0001g0378 a0001c0004t0001g0379	6	377	0.0159	9	c.206 others(28): Show c.2061-1651_2061-1643dupAATAATAAT	RECK	ENSG00000122707.12	transcript	ENST00000377966.4	protein_coding	16/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
REEP1_chr2_86208993_86342626	86217666	A A	ATTTTTTT others(2): Show ATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp2 HG02559.hp1 others(4): Show HG02055.hp2 HG02109.hp2 HG02559.hp1 HG02717.hp2 HG02723.hp1 HG02886.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0022 a0001c0001t0007 a0001c0001t0022	a0001c0001t0007g0007 a0001c0001t0007g0008 a0001c0001t0007g0009 others(4): Show a0001c0001t0007g0007 a0001c0001t0007g0008 a0001c0001t0007g0009 a0001c0001t0007g0010 a0001c0001t0007g0015 a0001c0001t0022g0048 a0001c0001t0022g0058	7	142	0.0493	9	c.784 others(24): Show c.784-565_784-557dupAAAAAAAAA	REEP1	ENSG00000068615.20	transcript	ENST00000538924.7	protein_coding	8/8			chr2	TogoVar
REEP1_chr2_86208993_86342626	86217684	T T	TTTTTTTT others(2): Show TTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp1 HG00558.hp1 others(25): Show HG00323.hp2 HG00423.hp1 HG00558.hp1 HG00597.hp1 HG00733.hp2 HG01070.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01257.hp2 HG01346.hp2 HG02135.hp2 HG03490.hp1 HG04204.hp2 HG04228.hp1 NA18953.hp2 NA18954.hp2 NA18970.hp2 NA18971.hp2 NA18975.hp1 NA18981.hp1 NA18982.hp2 NA18983.hp2 NA19011.hp2 NA19058.hp2 NA19067.hp2 NA19075.hp1 NA19079.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0012 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0012 a0001c0002t0001 a0001c0002t0042 a0001c0002t0043 a0002c0003t0001	a0001c0001t0001g0061 a0001c0001t0001g0167 a0001c0001t0012g0088 others(25): Show a0001c0001t0001g0061 a0001c0001t0001g0167 a0001c0001t0012g0088 a0001c0002t0001g0076 a0001c0002t0001g0160 a0001c0002t0001g0163 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0191 a0001c0002t0001g0195 a0001c0002t0001g0198 a0001c0002t0001g0207 a0001c0002t0001g0209 a0001c0002t0001g0222 a0001c0002t0001g0237 a0001c0002t0001g0265 a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0042g0214 a0001c0002t0043g0233 a0002c0003t0001g0188 a0002c0003t0001g0196 a0002c0003t0001g0225 a0002c0003t0001g0257	28	245	0.1143	9	c.784 others(24): Show c.784-575_784-574insGAAAAAAAA	REEP1	ENSG00000068615.20	transcript	ENST00000538924.7	protein_coding	8/8			chr2	TogoVar
REEP1_chr2_86208993_86342626	86226075	T T	TCACCACC others(2): Show TCACCACCAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp1 HG00558.hp1 others(86): Show HG00099.hp2 HG00423.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01928.hp1 HG01981.hp2 HG01993.hp1 HG02015.hp1 HG02071.hp2 HG02135.hp2 HG02165.hp2 HG02683.hp2 HG02698.hp1 HG02735.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp2 HG03490.hp1 HG03492.hp1 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG04115.hp2 HG04184.hp2 HG04204.hp2 HG04228.hp1 NA18946.hp2 NA18953.hp2 NA18954.hp2 NA18960.hp2 NA18963.hp2 NA18966.hp1 NA18967.hp2 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp2 NA18986.hp2 NA18990.hp2 NA19002.hp2 NA19003.hp2 NA19011.hp2 NA19062.hp2 NA19067.hp2 NA19068.hp1 NA19074.hp2 NA19077.hp1 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19084.hp2 NA19085.hp1 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 a0001c0001t0019 a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 a0001c0002t0012 a0001c0002t0040 a0001c0002t0041 a0001c0002t0042 a0001c0002t0043 a0002c0003t0001	a0001c0001t0001g0061 a0001c0001t0001g0067 a0001c0001t0001g0167 others(85): Show a0001c0001t0001g0061 a0001c0001t0001g0067 a0001c0001t0001g0167 a0001c0001t0002g0055 a0001c0001t0002g0083 a0001c0001t0002g0095 a0001c0001t0002g0110 a0001c0001t0002g0259 a0001c0001t0003g0084 a0001c0001t0003g0096 a0001c0001t0003g0315 a0001c0001t0008g0049 a0001c0001t0010g0082 a0001c0001t0019g0101 a0001c0002t0001g0004 a0001c0002t0001g0022 a0001c0002t0001g0026 a0001c0002t0001g0042 a0001c0002t0001g0045 a0001c0002t0001g0076 a0001c0002t0001g0078 a0001c0002t0001g0126 a0001c0002t0001g0138 a0001c0002t0001g0140 a0001c0002t0001g0160 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0165 a0001c0002t0001g0172 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0224 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0230 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0001g0270 a0001c0002t0001g0271 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0002g0173 a0001c0002t0002g0174 a0001c0002t0010g0079 a0001c0002t0010g0161 a0001c0002t0010g0215 a0001c0002t0012g0108 a0001c0002t0012g0210 a0001c0002t0040g0231 a0001c0002t0041g0213 a0001c0002t0042g0214 a0001c0002t0043g0233 a0002c0003t0001g0186 a0002c0003t0001g0188 a0002c0003t0001g0196 a0002c0003t0001g0225 a0002c0003t0001g0257	89	190	0.4684	9	c.631 others(26): Show c.631+1279_631+1287dupGTGGTGGTG	REEP1	ENSG00000068615.20	transcript	ENST00000538924.7	protein_coding	7/8			chr2	TogoVar
REEP3_chr10_63516401_63630128	63622705	C C	CTTTTTTT others(2): Show CTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00544.hp2 HG00621.hp2 HG00735.hp2 others(5): Show HG00544.hp2 HG00621.hp2 HG00735.hp2 HG02027.hp2 NA18985.hp1 NA19001.hp2 NA19006.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0031 a0001c0001t0006g0062 a0001c0001t0006g0234 others(5): Show a0001c0001t0006g0031 a0001c0001t0006g0062 a0001c0001t0006g0234 a0001c0001t0006g0242 a0001c0001t0006g0250 a0001c0001t0006g0254 a0001c0001t0006g0264 a0001c0001t0006g0266	8	170	0.0471	9	c.18 others(20): Show c.1848_*1856dupTTTTTTTTT	REEP3	ENSG00000165476.14	transcript	ENST00000373758.5	protein_coding	8/8	1857	INFO_REALIGN_3_PRIME	chr10	TogoVar
REEP3_chr10_63516401_63630128	63628352	A A	AAAAAATA others(2): Show AAAAAATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00733.hp1 HG01070.hp2 others(8): Show HG00140.hp2 HG00733.hp1 HG01070.hp2 HG01109.hp2 HG01891.hp2 HG02055.hp1 HG03453.hp1 HG06807.hp2 NA18906.hp2 NA18977.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0023 a0001c0001t0039 others(1): Show a0001c0001t0008 a0001c0001t0023 a0001c0001t0039 a0001c0001t0051	a0001c0001t0008g0020 a0001c0001t0008g0095 a0001c0001t0008g0109 others(8): Show a0001c0001t0008g0020 a0001c0001t0008g0095 a0001c0001t0008g0109 a0001c0001t0008g0110 a0001c0001t0008g0111 a0001c0001t0008g0112 a0001c0001t0008g0117 a0001c0001t0023g0091 a0001c0001t0023g0106 a0001c0001t0039g0080 a0001c0001t0051g0228	11	282	0.0390	9	c.74 others(20): Show c.7483_*7484insAAAAATAAT	REEP3	ENSG00000165476.14	transcript	ENST00000373758.5	protein_coding		3225		chr10	TogoVar
REEP5_chr5_112871385_112927227	112895237	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00609.hp1 others(32): Show HG00408.hp1 HG00423.hp2 HG00609.hp1 HG01074.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp1 HG02071.hp2 HG02155.hp1 HG02451.hp1 HG02523.hp1 HG02630.hp1 HG02698.hp1 HG03195.hp1 HG03486.hp1 HG06807.hp2 NA18612.hp1 NA18942.hp1 NA18951.hp1 NA18968.hp1 NA18969.hp1 NA18971.hp1 NA18972.hp2 NA18974.hp2 NA18983.hp2 NA18987.hp2 NA19004.hp2 NA19011.hp1 NA19030.hp2 NA19043.hp2 NA19060.hp2 NA19065.hp2 NA19077.hp1 NA19085.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 others(1): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0001t0015	a0001c0001t0003g0002 a0001c0001t0003g0005 a0001c0001t0003g0018 others(23): Show a0001c0001t0003g0002 a0001c0001t0003g0005 a0001c0001t0003g0018 a0001c0001t0003g0245 a0001c0001t0003g0276 a0001c0001t0003g0277 a0001c0001t0003g0278 a0001c0001t0003g0279 a0001c0001t0003g0281 a0001c0001t0003g0282 a0001c0001t0003g0283 a0001c0001t0003g0284 a0001c0001t0003g0285 a0001c0001t0003g0286 a0001c0001t0003g0290 a0001c0001t0003g0291 a0001c0001t0003g0292 a0001c0001t0003g0293 a0001c0001t0003g0294 a0001c0001t0003g0299 a0001c0001t0008g0012 a0001c0001t0008g0013 a0001c0001t0008g0125 a0001c0001t0008g0154 a0001c0001t0009g0234 a0001c0001t0015g0023	35	53	0.6604	9	c.351 others(26): Show c.351+7134_351+7142dupTTTTTTTTT	REEP5	ENSG00000129625.13	transcript	ENST00000379638.9	protein_coding	3/4			chr5	TogoVar
REG3G_chr2_79020702_79033501	79022101	T T	TAAGCATG others(2): Show TAAGCATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG01891.hp2 HG02145.hp2 others(6): Show HG01099.hp1 HG01891.hp2 HG02145.hp2 HG02280.hp1 HG02572.hp2 HG02818.hp1 HG03139.hp2 HG03195.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0003 a0001c0002t0003g0003	9	462	0.0195	9	c.-37 others(20): Show c.-3784_-3783insAAGCATGTG	REG3G	ENSG00000143954.13	transcript	ENST00000272324.10	protein_coding		3600		chr2	TogoVar
RELB_chr19_44996464_45043192	45017449	T T	TAAAAAAA others(2): Show TAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02145.hp2 HG04228.hp2 others(9): Show HG01243.hp1 HG02145.hp2 HG04228.hp2 NA18974.hp2 NA18989.hp1 NA18993.hp1 NA19000.hp2 NA19009.hp1 NA19054.hp2 NA19055.hp1 NA19070.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0027 a0001c0001t0001g0197 a0001c0001t0001g0208 others(9): Show a0001c0001t0001g0027 a0001c0001t0001g0197 a0001c0001t0001g0208 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0255 a0001c0001t0001g0266 a0001c0001t0001g0278 a0001c0001t0001g0298 a0001c0001t0001g0303 a0001c0001t0001g0369 a0001c0001t0002g0117	12	114	0.1053	9	c.505 others(26): Show c.505-4598_505-4590dupAAAAAAAAA	RELB	ENSG00000104856.15	transcript	ENST00000221452.13	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
RELCH_chr18_62182255_62315249	62260193	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00673.hp2 others(32): Show HG00408.hp1 HG00438.hp2 HG00673.hp2 HG01069.hp2 HG01256.hp2 HG01496.hp2 HG02040.hp1 HG02056.hp2 HG02132.hp1 HG02165.hp1 HG02976.hp2 HG04184.hp1 NA18946.hp1 NA18951.hp2 NA18953.hp2 NA18957.hp1 NA18961.hp2 NA18966.hp2 NA18970.hp1 NA18974.hp2 NA18986.hp1 NA18990.hp2 NA18991.hp1 NA18995.hp2 NA18999.hp1 NA19005.hp1 NA19010.hp2 NA19012.hp1 NA19056.hp1 NA19081.hp1 NA19082.hp1 NA19084.hp1 NA19086.hp1 NA19088.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 a0001c0002 a0001c0003 a0001c0004	a0001c0002t0004 a0001c0002t0042 a0001c0003t0005 others(6): Show a0001c0002t0004 a0001c0002t0042 a0001c0003t0005 a0001c0004t0011 a0001c0004t0015 a0001c0004t0039 a0001c0004t0040 a0001c0004t0041 a0001c0004t0043	a0001c0002t0004g0004 a0001c0002t0004g0016 a0001c0002t0004g0017 others(31): Show a0001c0002t0004g0004 a0001c0002t0004g0016 a0001c0002t0004g0017 a0001c0002t0004g0019 a0001c0002t0004g0020 a0001c0002t0004g0021 a0001c0002t0004g0022 a0001c0002t0004g0023 a0001c0002t0004g0025 a0001c0002t0004g0028 a0001c0002t0004g0029 a0001c0002t0004g0030 a0001c0002t0004g0032 a0001c0002t0004g0033 a0001c0002t0004g0034 a0001c0002t0004g0035 a0001c0002t0004g0036 a0001c0002t0004g0037 a0001c0002t0004g0038 a0001c0002t0042g0024 a0001c0003t0005g0314 a0001c0003t0005g0316 a0001c0004t0011g0041 a0001c0004t0011g0042 a0001c0004t0011g0043 a0001c0004t0011g0045 a0001c0004t0011g0047 a0001c0004t0011g0049 a0001c0004t0015g0044 a0001c0004t0015g0048 a0001c0004t0039g0040 a0001c0004t0040g0050 a0001c0004t0041g0039 a0001c0004t0043g0046	35	102	0.3431	9	c.220 others(28): Show c.2203-1314_2203-1306dupAAAAAAAAA	RELCH	ENSG00000134444.15	transcript	ENST00000644646.2	protein_coding	15/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
RELN_chr7_103466789_103994658	103694467	A A	AGATGATG others(2): Show AGATGATGAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00558.hp1 others(30): Show HG00438.hp1 HG00438.hp2 HG00558.hp1 HG01070.hp1 HG01928.hp1 HG02071.hp1 HG02083.hp1 HG02258.hp1 HG02273.hp2 HG02293.hp1 HG02523.hp2 HG02615.hp1 HG02622.hp2 HG02683.hp1 HG02735.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03540.hp2 NA18940.hp2 NA18952.hp1 NA18998.hp2 NA19030.hp2 NA19060.hp1 NA19064.hp2 NA19076.hp1 NA19080.hp1 NA19085.hp1 NA19091.hp1 NA19240.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0007 a0010 a0015 a0016 a0029 a0033	a0001c0001 a0001c0002 a0001c0003 others(19): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0022 a0001c0024 a0001c0036 a0001c0046 a0001c0064 a0002c0014 a0003c0016 a0003c0028 a0003c0075 a0007c0012 a0010c0061 a0015c0068 a0016c0060 a0029c0074 a0033c0077	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(25): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0002t0005 a0001c0003t0003 a0001c0005t0001 a0001c0005t0007 a0001c0006t0001 a0001c0006t0003 a0001c0007t0001 a0001c0007t0004 a0001c0008t0002 a0001c0008t0008 a0001c0022t0001 a0001c0024t0001 a0001c0036t0005 a0001c0046t0002 a0001c0064t0002 a0002c0014t0001 a0003c0016t0001 a0003c0028t0001 a0003c0075t0005 a0007c0012t0002 a0010c0061t0001 a0015c0068t0001 a0016c0060t0002 a0029c0074t0001 a0033c0077t0001	a0001c0001t0001g0073 a0001c0001t0001g0129 a0001c0001t0004g0160 others(30): Show a0001c0001t0001g0073 a0001c0001t0001g0129 a0001c0001t0004g0160 a0001c0002t0001g0094 a0001c0002t0005g0183 a0001c0003t0003g0171 a0001c0005t0001g0037 a0001c0005t0001g0145 a0001c0005t0007g0109 a0001c0006t0001g0082 a0001c0006t0001g0141 a0001c0006t0003g0174 a0001c0007t0001g0071 a0001c0007t0001g0080 a0001c0007t0004g0158 a0001c0008t0002g0034 a0001c0008t0008g0001 a0001c0022t0001g0062 a0001c0024t0001g0110 a0001c0024t0001g0134 a0001c0036t0005g0182 a0001c0046t0002g0024 a0001c0064t0002g0009 a0002c0014t0001g0064 a0003c0016t0001g0053 a0003c0028t0001g0095 a0003c0075t0005g0181 a0007c0012t0002g0007 a0010c0061t0001g0063 a0015c0068t0001g0108 a0016c0060t0002g0030 a0029c0074t0001g0048 a0033c0077t0001g0155	33	69	0.4783	9	c.114 others(28): Show c.1143+3377_1143+3385dupATCATCATC	RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	10/64			chr7	TogoVar
RELN_chr7_103466789_103994658	103708464	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02258.hp1 HG02615.hp1 others(8): Show HG01106.hp1 HG02258.hp1 HG02615.hp1 HG02922.hp1 HG03098.hp2 NA18941.hp2 NA18969.hp2 NA18998.hp2 NA19030.hp2 NA19076.hp1 NA19240.hp2	a0001 a0015 a0029 others(1): Show a0001 a0015 a0029 a0033	a0001c0002 a0001c0005 a0001c0007 others(8): Show a0001c0002 a0001c0005 a0001c0007 a0001c0008 a0001c0023 a0001c0024 a0001c0064 a0001c0067 a0015c0068 a0029c0074 a0033c0077	a0001c0002t0005 a0001c0005t0007 a0001c0007t0001 others(8): Show a0001c0002t0005 a0001c0005t0007 a0001c0007t0001 a0001c0008t0002 a0001c0023t0001 a0001c0024t0001 a0001c0064t0002 a0001c0067t0018 a0015c0068t0001 a0029c0074t0001 a0033c0077t0001	a0001c0002t0005g0183 a0001c0005t0007g0109 a0001c0007t0001g0049 others(8): Show a0001c0002t0005g0183 a0001c0005t0007g0109 a0001c0007t0001g0049 a0001c0008t0002g0034 a0001c0023t0001g0102 a0001c0024t0001g0110 a0001c0064t0002g0009 a0001c0067t0018g0025 a0015c0068t0001g0108 a0029c0074t0001g0048 a0033c0077t0001g0155	11	104	0.1058	9	c.806 others(26): Show c.806-7467_806-7459dupAAAAAAAAA	RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	8/64			chr7	TogoVar
RELN_chr7_103466789_103994658	103920593	T T	TTTTTTTT others(2): Show TTTTTTTTGA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02922.hp1 HG03098.hp1 others(5): Show HG01243.hp2 HG02922.hp1 HG03098.hp1 NA18952.hp2 NA18965.hp2 NA19009.hp2 NA19080.hp2 NA19088.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0028	a0001c0020 a0001c0064 a0002c0009 others(4): Show a0001c0020 a0001c0064 a0002c0009 a0002c0015 a0003c0016 a0004c0063 a0028c0059	a0001c0020t0001 a0001c0064t0002 a0002c0009t0001 others(4): Show a0001c0020t0001 a0001c0064t0002 a0002c0009t0001 a0002c0015t0001 a0003c0016t0001 a0004c0063t0001 a0028c0059t0001	a0001c0020t0001g0068 a0001c0064t0002g0009 a0002c0009t0001g0056 others(5): Show a0001c0020t0001g0068 a0001c0064t0002g0009 a0002c0009t0001g0056 a0002c0009t0001g0057 a0002c0015t0001g0055 a0003c0016t0001g0098 a0004c0063t0001g0147 a0028c0059t0001g0060	8	33	0.2424	9	c.227 others(26): Show c.227-3409_227-3408insTCAAAAAAA	RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	1/64			chr7	TogoVar
RELN_chr7_103466789_103994658	103963134	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00609.hp1 HG01070.hp2 others(27): Show HG00558.hp2 HG00609.hp1 HG01070.hp2 HG01071.hp2 HG01255.hp2 HG01891.hp1 HG02083.hp1 HG02109.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02683.hp2 HG02922.hp2 HG03041.hp1 HG03130.hp2 HG03453.hp2 HG03669.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp2 NA18942.hp1 NA18957.hp2 NA19030.hp1 NA19043.hp2 NA19068.hp2 NA19076.hp1 NA19086.hp2 NA19091.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0005 a0006 a0008 a0012 a0026 a0032	a0001c0001 a0001c0002 a0001c0003 others(18): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0036 a0001c0041 a0002c0015 a0002c0021 a0003c0028 a0003c0075 a0005c0078 a0005c0081 a0006c0013 a0008c0055 a0012c0053 a0026c0039 a0032c0082	a0001c0001t0001 a0001c0001t0003 a0001c0002t0005 others(24): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0005 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0005 a0001c0004t0005 a0001c0005t0001 a0001c0005t0002 a0001c0005t0007 a0001c0006t0003 a0001c0007t0003 a0001c0008t0001 a0001c0036t0005 a0001c0041t0017 a0002c0015t0003 a0002c0021t0001 a0003c0028t0001 a0003c0075t0005 a0005c0078t0001 a0005c0081t0001 a0006c0013t0002 a0008c0055t0002 a0012c0053t0002 a0026c0039t0001 a0032c0082t0006	a0001c0001t0001g0111 a0001c0001t0003g0169 a0001c0001t0003g0170 others(27): Show a0001c0001t0001g0111 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0002t0005g0183 a0001c0003t0001g0117 a0001c0003t0002g0018 a0001c0003t0003g0175 a0001c0003t0005g0180 a0001c0004t0005g0179 a0001c0005t0001g0037 a0001c0005t0001g0144 a0001c0005t0001g0145 a0001c0005t0002g0006 a0001c0005t0007g0118 a0001c0006t0003g0174 a0001c0007t0003g0172 a0001c0008t0001g0114 a0001c0036t0005g0182 a0001c0041t0017g0035 a0002c0015t0003g0173 a0002c0021t0001g0113 a0003c0028t0001g0146 a0003c0075t0005g0181 a0005c0078t0001g0157 a0005c0081t0001g0153 a0006c0013t0002g0023 a0008c0055t0002g0021 a0012c0053t0002g0022 a0026c0039t0001g0116 a0032c0082t0006g0151	30	91	0.3297	9	c.226 others(28): Show c.226+25988_226+25996dupAAAAAAAAA	RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	1/64			chr7	TogoVar
RELT_chr11_73371399_73402474	73401080	T T	TTTATTAT others(2): Show TTTATTATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02970.hp2 NA19043.hp1 others(1): Show HG02572.hp2 HG02970.hp2 NA19043.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0002 a0001c0001t0005 a0001c0002t0002	a0001c0001t0005g0038 a0001c0002t0002g0023 a0001c0002t0002g0139 a0001c0001t0005g0038 a0001c0002t0002g0023 a0001c0002t0002g0139	4	209	0.0191	9	c.55 others(20): Show c.5589_*5590insTTATTATTA	RELT	ENSG00000054967.13	transcript	ENST00000064780.7	protein_coding		3607		chr11	TogoVar
REL_chr2_60876574_60936612	60906913	A A	ATATATAT others(2): Show ATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01257.hp2 HG01258.hp2 others(2): Show HG00323.hp2 HG01257.hp2 HG01258.hp2 HG02280.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0023 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0023 a0001c0001t0051	a0001c0001t0003g0187 a0001c0001t0004g0204 a0001c0001t0004g0205 others(2): Show a0001c0001t0003g0187 a0001c0001t0004g0204 a0001c0001t0004g0205 a0001c0001t0023g0128 a0001c0001t0051g0028	5	143	0.0350	9	c.394 others(26): Show c.394+5831_394+5832insATATATATT	REL	ENSG00000162924.16	transcript	ENST00000394479.4	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
REM2_chr14_22878222_22892678	22888841	C C	CTAAAAAA others(2): Show CTAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01175.hp2 HG01993.hp2 others(20): Show HG01069.hp2 HG01175.hp2 HG01993.hp2 HG02071.hp2 HG02132.hp1 HG02148.hp1 HG02735.hp2 HG03834.hp2 NA18939.hp2 NA18949.hp2 NA18960.hp2 NA18964.hp2 NA18982.hp2 NA18986.hp1 NA18998.hp1 NA18998.hp2 NA19030.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp2 NA19080.hp2 NA19088.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0023 others(2): Show a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0023 a0001c0001t0003g0003 a0001c0001t0003g0010	23	27	0.8519	9	c.19 others(20): Show c.1932_*1933insTAAAAAAAA	REM2	ENSG00000139890.10	transcript	ENST00000267396.9	protein_coding		1164		chr14	TogoVar

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