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
BMPR1A_chr10_86751619_86932969	86868778	G G	GTTTTTTT others(5): Show GTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02055.hp2 HG02109.hp1 others(11): Show HG01243.hp2 HG02055.hp2 HG02109.hp1 HG02145.hp2 HG02257.hp2 HG02572.hp2 HG02615.hp2 HG02895.hp2 HG03486.hp1 HG03486.hp2 HG03579.hp1 NA18969.hp1 NA20300.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0010 a0001c0002t0033 others(6): Show a0001c0002t0007 a0001c0002t0010 a0001c0002t0033 a0001c0002t0052 a0001c0002t0065 a0001c0002t0080 a0001c0002t0081 a0001c0002t0082 a0001c0002t0083	a0001c0002t0007g0192 a0001c0002t0007g0269 a0001c0002t0010g0028 others(11): Show a0001c0002t0007g0192 a0001c0002t0007g0269 a0001c0002t0010g0028 a0001c0002t0010g0032 a0001c0002t0010g0033 a0001c0002t0010g0170 a0001c0002t0010g0191 a0001c0002t0033g0270 a0001c0002t0052g0195 a0001c0002t0065g0251 a0001c0002t0080g0172 a0001c0002t0081g0169 a0001c0002t0082g0197 a0001c0002t0083g0198	14	278	0.0504	12	c.-15 others(31): Show c.-152-7087_-152-7076dupTTTTTTTTTTTT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86868779	T T	TTTTTTTT others(5): Show TTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0194 a0001c0002t0010g0194	1	278	0.0036	12	c.-15 others(31): Show c.-152-7077_-152-7076insGTTTTTTTTTTT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86906723	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01981.hp1 HG03195.hp1 others(1): Show HG01168.hp1 HG01981.hp1 HG03195.hp1 HG03225.hp1	a0002 a0002	a0002c0001 a0002c0004 a0002c0001 a0002c0004	a0002c0001t0001 a0002c0001t0002 a0002c0001t0012 others(1): Show a0002c0001t0001 a0002c0001t0002 a0002c0001t0012 a0002c0004t0002	a0002c0001t0001g0259 a0002c0001t0002g0247 a0002c0001t0012g0262 others(1): Show a0002c0001t0001g0259 a0002c0001t0002g0247 a0002c0001t0012g0262 a0002c0004t0002g0216	4	278	0.0144	12	c.531 others(29): Show c.531-5489_531-5478dupAAAAAAAAAAAA	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86925721	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00323.hp2 HG00673.hp1 HG00738.hp1 others(9): Show HG00323.hp2 HG00673.hp1 HG00738.hp1 HG01175.hp1 HG01978.hp1 HG02027.hp2 HG02258.hp2 HG02486.hp2 HG02965.hp1 NA19068.hp2 NA19089.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0022 a0001c0002t0036 others(4): Show a0001c0002t0017 a0001c0002t0022 a0001c0002t0036 a0001c0002t0039 a0001c0002t0040 a0001c0002t0045 a0001c0002t0061	a0001c0002t0017g0039 a0001c0002t0017g0090 a0001c0002t0017g0104 others(9): Show a0001c0002t0017g0039 a0001c0002t0017g0090 a0001c0002t0017g0104 a0001c0002t0017g0117 a0001c0002t0022g0265 a0001c0002t0022g0266 a0001c0002t0022g0267 a0001c0002t0036g0070 a0001c0002t0039g0013 a0001c0002t0040g0038 a0001c0002t0045g0111 a0001c0002t0061g0164	12	278	0.0432	12	c.20 others(23): Show c.2008_*2019dupTTTTTTTTTTTT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding	13/13	2020	INFO_REALIGN_3_PRIME	chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86931298	C C	CACACATA others(5): Show CACACATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 HG02523.hp1 HG01361.hp2 HG02523.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0013 a0002c0001t0015 a0002c0001t0013 a0002c0001t0015	a0002c0001t0013g0107 a0002c0001t0015g0044 a0002c0001t0013g0107 a0002c0001t0015g0044	2	278	0.0072	12	c.75 others(23): Show c.7579_*7580insACACATATATAT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding		3330		chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86931298	C C	CACATATA others(5): Show CACATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02559.hp1 HG02622.hp1 others(3): Show HG02280.hp1 HG02559.hp1 HG02622.hp1 HG03710.hp2 NA18989.hp1 NA19089.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0009 a0002c0001t0034 a0002c0001t0068 others(1): Show a0002c0001t0009 a0002c0001t0034 a0002c0001t0068 a0002c0001t0070	a0002c0001t0009g0042 a0002c0001t0009g0046 a0002c0001t0034g0147 others(3): Show a0002c0001t0009g0042 a0002c0001t0009g0046 a0002c0001t0034g0147 a0002c0001t0034g0148 a0002c0001t0068g0146 a0002c0001t0070g0203	6	278	0.0216	12	c.75 others(23): Show c.7579_*7580insACATATATATAT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding		3330		chr10	TogoVar
BMPR1A_chr10_86751619_86932969	86931313	A A	ATATATAT others(5): Show ATATATATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0130 a0001c0002t0006g0130	1	278	0.0036	12	c.75 others(23): Show c.7594_*7595insTATATATATATT	BMPR1A	ENSG00000107779.15	transcript	ENST00000372037.8	protein_coding		3345		chr10	TogoVar
BMPR1B_chr4_94752955_95163448	94844223	T T	TTGTGTGT others(5): Show TTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA19090.hp2 NA18946.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0136 a0001c0001t0005g0110 a0001c0001t0004g0136 a0001c0001t0005g0110	2	226	0.0089	12	c.-18 others(33): Show c.-182-31585_-182-31574dupTGTGTGTGTGTG	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	94882978	A A	ATGTGTGT others(5): Show ATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0223 a0001c0001t0039g0223	1	226	0.0044	12	c.-11 others(31): Show c.-113+7096_-113+7107dupGTGTGTGTGTGT	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	94894438	A A	AAGAGAGA others(5): Show AAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0086 a0001c0001t0044g0086	1	226	0.0044	12	c.-11 others(33): Show c.-113+18550_-113+18561dupGAGAGAGAGAGA	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	94902046	G G	GGTGTGTG others(5): Show GGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01243.hp2 HG02572.hp2 others(1): Show HG01099.hp1 HG01243.hp2 HG02572.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0011 a0001c0001t0012 others(1): Show a0001c0001t0005 a0001c0001t0011 a0001c0001t0012 a0001c0001t0016	a0001c0001t0005g0013 a0001c0001t0011g0106 a0001c0001t0012g0128 others(1): Show a0001c0001t0005g0013 a0001c0001t0011g0106 a0001c0001t0012g0128 a0001c0001t0016g0126	4	226	0.0177	12	c.-11 others(33): Show c.-113+26176_-113+26187dupTGTGTGTGTGTG	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	94902245	C C	CAGAGAGA others(5): Show CAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0201 a0001c0001t0005g0201	1	226	0.0044	12	c.-11 others(33): Show c.-113+26346_-113+26347insGAGAGAGAGAGA	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	94908093	A A	AAAAAAGA others(5): Show AAAAAAGAAAAAG	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	226	0.0044	12	c.-11 others(33): Show c.-113+32197_-113+32198insAGAAAAAGAAAA	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	94937717	C C	CACACACA others(5): Show CACACACACACAG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00738.hp1 HG01069.hp1 others(54): Show HG00280.hp1 HG00738.hp1 HG01069.hp1 HG01071.hp1 HG01106.hp2 HG01123.hp1 HG01243.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01496.hp1 HG01891.hp2 HG01952.hp1 HG01978.hp1 HG02027.hp2 HG02056.hp1 HG02080.hp2 HG02148.hp1 HG02258.hp2 HG02280.hp1 HG02622.hp2 HG02698.hp2 HG02886.hp1 HG02965.hp1 HG02965.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03654.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG04115.hp1 HG04204.hp2 NA18612.hp1 NA18942.hp2 NA18943.hp2 NA18951.hp2 NA18953.hp2 NA18960.hp2 NA18961.hp1 NA18988.hp1 NA18988.hp2 NA18992.hp1 NA19005.hp1 NA19007.hp1 NA19012.hp1 NA19030.hp2 NA19056.hp2 NA19060.hp2 NA19062.hp1 NA19070.hp1 NA20300.hp1 NA20752.hp1 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0025 a0001c0001t0027 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0035 a0001c0001t0040 a0001c0001t0042 a0001c0001t0047 a0003c0006t0034	a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0066 others(54): Show a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0066 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0095 a0001c0001t0001g0116 a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0167 a0001c0001t0001g0174 a0001c0001t0001g0182 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0002g0138 a0001c0001t0002g0156 a0001c0001t0002g0210 a0001c0001t0003g0143 a0001c0001t0003g0195 a0001c0001t0004g0003 a0001c0001t0004g0063 a0001c0001t0004g0211 a0001c0001t0005g0096 a0001c0001t0005g0132 a0001c0001t0005g0151 a0001c0001t0005g0168 a0001c0001t0005g0199 a0001c0001t0005g0201 a0001c0001t0006g0160 a0001c0001t0006g0177 a0001c0001t0006g0181 a0001c0001t0007g0019 a0001c0001t0009g0179 a0001c0001t0015g0203 a0001c0001t0016g0178 a0001c0001t0016g0200 a0001c0001t0018g0030 a0001c0001t0018g0055 a0001c0001t0019g0165 a0001c0001t0025g0074 a0001c0001t0027g0082 a0001c0001t0030g0141 a0001c0001t0032g0175 a0001c0001t0033g0205 a0001c0001t0035g0198 a0001c0001t0040g0142 a0001c0001t0042g0176 a0001c0001t0047g0001 a0003c0006t0034g0140	57	226	0.2522	12	c.-11 others(33): Show c.-112-58322_-112-58321insCACACACACAGA	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	94962072	T T	TTTCCTTC others(5): Show TTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02055.hp1 HG02056.hp1 others(1): Show HG00280.hp2 HG02055.hp1 HG02056.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0009 a0001c0001t0015 others(1): Show a0001c0001t0004 a0001c0001t0009 a0001c0001t0015 a0001c0001t0048	a0001c0001t0004g0211 a0001c0001t0009g0026 a0001c0001t0015g0023 others(1): Show a0001c0001t0004g0211 a0001c0001t0009g0026 a0001c0001t0015g0023 a0001c0001t0048g0103	4	226	0.0177	12	c.-11 others(33): Show c.-112-33928_-112-33917dupCTTCCTTCCTTC	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	94970318	T T	TTCTCTTT others(5): Show TTCTCTTTCTCTC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02258.hp1 HG02615.hp2 others(5): Show HG01884.hp1 HG02258.hp1 HG02615.hp2 HG02647.hp1 HG02976.hp1 HG03041.hp2 HG03486.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0013 a0001c0001t0045 others(1): Show a0001c0001t0011 a0001c0001t0013 a0001c0001t0045 a0001c0001t0046	a0001c0001t0011g0106 a0001c0001t0011g0191 a0001c0001t0011g0222 others(5): Show a0001c0001t0011g0106 a0001c0001t0011g0191 a0001c0001t0011g0222 a0001c0001t0013g0015 a0001c0001t0013g0016 a0001c0001t0013g0202 a0001c0001t0045g0102 a0001c0001t0046g0204	8	226	0.0354	12	c.-11 others(33): Show c.-112-25717_-112-25716insTTCTCTCTCTCT	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	95026098	A A	ATTTCTTT others(5): Show ATTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01167.hp1 HG01175.hp1 others(31): Show HG00323.hp2 HG01167.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01884.hp2 HG01891.hp1 HG01934.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02080.hp1 HG02132.hp1 HG02486.hp1 HG02559.hp2 HG02572.hp2 HG02698.hp1 HG02698.hp2 HG02738.hp2 HG02809.hp2 HG02886.hp2 HG03041.hp2 HG03130.hp1 HG03490.hp1 HG03688.hp1 HG03831.hp2 NA18522.hp1 NA18942.hp1 NA18948.hp2 NA18960.hp1 NA19007.hp2 NA19090.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0023 a0001c0001t0037 a0001c0001t0039 a0001c0001t0046 a0001c0001t0056 a0001c0001t0057	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 others(31): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0080 a0001c0001t0001g0122 a0001c0001t0001g0174 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0002g0187 a0001c0001t0004g0045 a0001c0001t0004g0094 a0001c0001t0005g0013 a0001c0001t0005g0110 a0001c0001t0006g0185 a0001c0001t0007g0025 a0001c0001t0007g0028 a0001c0001t0008g0060 a0001c0001t0009g0026 a0001c0001t0010g0192 a0001c0001t0010g0213 a0001c0001t0011g0012 a0001c0001t0011g0024 a0001c0001t0012g0128 a0001c0001t0012g0171 a0001c0001t0015g0023 a0001c0001t0018g0030 a0001c0001t0018g0226 a0001c0001t0019g0165 a0001c0001t0023g0216 a0001c0001t0037g0129 a0001c0001t0039g0223 a0001c0001t0046g0204 a0001c0001t0056g0053 a0001c0001t0057g0008	34	226	0.1504	12	c.-18 others(31): Show c.-18+30018_-18+30029dupTTCTTTCTTTCT	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	95026099	T T	TTTCTTTC others(5): Show TTTCTTTCTTTCC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01884.hp1 HG02027.hp1 others(9): Show HG01346.hp1 HG01884.hp1 HG02027.hp1 HG02055.hp2 HG02647.hp2 HG02886.hp1 HG03017.hp2 HG03654.hp1 HG03654.hp2 HG03710.hp2 NA18944.hp2 NA18988.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 others(8): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0013 a0001c0001t0018 a0001c0001t0022 a0001c0001t0035 a0001c0001t0041 a0001c0001t0053 a0001c0001t0059 a0003c0006t0034	a0001c0001t0002g0044 a0001c0001t0003g0036 a0001c0001t0003g0164 others(9): Show a0001c0001t0002g0044 a0001c0001t0003g0036 a0001c0001t0003g0164 a0001c0001t0010g0018 a0001c0001t0013g0016 a0001c0001t0018g0055 a0001c0001t0022g0108 a0001c0001t0035g0198 a0001c0001t0041g0118 a0001c0001t0053g0137 a0001c0001t0059g0124 a0003c0006t0034g0140	12	226	0.0531	12	c.-18 others(31): Show c.-18+29976_-18+29977insCTTCTTTCTTTC	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	95026114	C C	CTTTCTTT others(5): Show CTTTCTTTCTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG03041.hp1 HG03688.hp2 others(1): Show HG01071.hp1 HG03041.hp1 HG03688.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0017 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0017 a0001c0001t0025	a0001c0001t0001g0059 a0001c0001t0006g0115 a0001c0001t0017g0039 others(1): Show a0001c0001t0001g0059 a0001c0001t0006g0115 a0001c0001t0017g0039 a0001c0001t0025g0074	4	226	0.0177	12	c.-18 others(31): Show c.-18+29991_-18+29992insTTTTCTTTCTTT	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	95053281	T T	TTGTGTGT others(5): Show TTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00738.hp1 HG01069.hp1 others(9): Show HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01346.hp1 HG01496.hp1 HG01515.hp2 HG02738.hp1 HG02738.hp2 HG02897.hp2 HG03471.hp1 HG03654.hp1 HG03654.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0004 a0003c0006 a0001c0001 a0002c0004 a0003c0006	a0001c0001t0003 a0001c0001t0016 a0001c0001t0018 others(3): Show a0001c0001t0003 a0001c0001t0016 a0001c0001t0018 a0001c0001t0044 a0002c0004t0051 a0003c0006t0034	a0001c0001t0003g0032 a0001c0001t0003g0035 a0001c0001t0003g0036 others(9): Show a0001c0001t0003g0032 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0123 a0001c0001t0003g0143 a0001c0001t0003g0164 a0001c0001t0003g0195 a0001c0001t0016g0178 a0001c0001t0018g0226 a0001c0001t0044g0086 a0002c0004t0051g0135 a0003c0006t0034g0140	12	226	0.0531	12	c.-17 others(31): Show c.-17-51096_-17-51085dupTGTGTGTGTGTG	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	95061160	A A	AACACACA others(5): Show AACACACACACAC	intron_variant intron_variant	MODIFIER	HG01934.hp1 NA19004.hp1 NA19070.hp2 HG01934.hp1 NA19004.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0069 a0001c0001t0002g0068 a0001c0001t0002g0077 a0001c0001t0001g0069 a0001c0001t0002g0068 a0001c0001t0002g0077	3	226	0.0133	12	c.-17 others(31): Show c.-17-43209_-17-43198dupACACACACACAC	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	95071646	G G	GTATATAT others(5): Show GTATATATATATA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03041.hp2 NA20129.hp1 others(1): Show HG02886.hp2 HG03041.hp2 NA20129.hp1 NA20300.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0003 a0001c0001 a0005c0003	a0001c0001t0011 a0001c0001t0015 a0001c0001t0046 others(1): Show a0001c0001t0011 a0001c0001t0015 a0001c0001t0046 a0005c0003t0017	a0001c0001t0011g0024 a0001c0001t0015g0023 a0001c0001t0046g0204 others(1): Show a0001c0001t0011g0024 a0001c0001t0015g0023 a0001c0001t0046g0204 a0005c0003t0017g0131	4	226	0.0177	12	c.-17 others(31): Show c.-17-32761_-17-32760insATATATATATAT	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	95071648	G G	GTATATAT others(5): Show GTATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02647.hp2 HG02055.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0059 a0001c0001t0010 a0001c0001t0059	a0001c0001t0010g0018 a0001c0001t0059g0124 a0001c0001t0010g0018 a0001c0001t0059g0124	2	226	0.0089	12	c.-17 others(31): Show c.-17-32759_-17-32758insATATATATATAT	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	95071650	G G	GTATATAT others(5): Show GTATATATATATA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0161 a0001c0001t0002g0161	1	226	0.0044	12	c.-17 others(31): Show c.-17-32757_-17-32756insATATATATATAT	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	95085989	C C	CTGTGTGT others(5): Show CTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02559.hp1 HG02615.hp2 others(8): Show HG01243.hp2 HG02559.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02809.hp2 HG02886.hp2 HG03041.hp2 HG03516.hp2 HG03579.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0011 a0001c0001t0015 others(3): Show a0001c0001t0005 a0001c0001t0011 a0001c0001t0015 a0001c0001t0045 a0001c0001t0046 a0001c0002t0021	a0001c0001t0005g0013 a0001c0001t0011g0012 a0001c0001t0011g0024 others(8): Show a0001c0001t0005g0013 a0001c0001t0011g0012 a0001c0001t0011g0024 a0001c0001t0011g0106 a0001c0001t0011g0222 a0001c0001t0015g0023 a0001c0001t0015g0197 a0001c0001t0015g0203 a0001c0001t0045g0102 a0001c0001t0046g0204 a0001c0002t0021g0217	11	226	0.0487	12	c.-17 others(31): Show c.-17-18407_-17-18396dupGTGTGTGTGTGT	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	95116421	G G	GCACACAC others(5): Show GCACACACACACA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00642.hp2 HG01243.hp2 others(9): Show HG00323.hp2 HG00642.hp2 HG01243.hp2 HG01358.hp1 HG01361.hp2 HG01496.hp2 HG02109.hp1 HG03209.hp1 HG03471.hp2 HG03688.hp1 NA18951.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0020 a0001c0001t0022	a0001c0001t0001g0069 a0001c0001t0001g0163 a0001c0001t0002g0161 others(9): Show a0001c0001t0001g0069 a0001c0001t0001g0163 a0001c0001t0002g0161 a0001c0001t0002g0187 a0001c0001t0003g0033 a0001c0001t0004g0045 a0001c0001t0004g0091 a0001c0001t0004g0113 a0001c0001t0005g0013 a0001c0001t0005g0186 a0001c0001t0020g0130 a0001c0001t0022g0052	12	226	0.0531	12	c.349 others(27): Show c.349+666_349+677dupACACACACACAC	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	95116421	G G	GCGCACAC others(5): Show GCGCACACACACA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02647.hp2 HG03486.hp1 others(1): Show HG01884.hp1 HG02647.hp2 HG03486.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0013 a0001c0001t0010 a0001c0001t0013	a0001c0001t0010g0018 a0001c0001t0010g0046 a0001c0001t0013g0016 others(1): Show a0001c0001t0010g0018 a0001c0001t0010g0046 a0001c0001t0013g0016 a0001c0001t0013g0202	4	226	0.0177	12	c.349 others(27): Show c.349+635_349+636insGCACACACACAC	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	95116421	G G	GCGCGCGC others(5): Show GCGCGCGCACACA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0039 a0001c0001t0017g0039	1	226	0.0044	12	c.349 others(27): Show c.349+635_349+636insGCGCGCACACAC	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	95120610	T T	TTTCCTTC others(5): Show TTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01255.hp2 HG02056.hp1 others(9): Show HG01106.hp2 HG01255.hp2 HG02056.hp1 HG02809.hp1 HG03834.hp1 HG03834.hp2 NA18948.hp1 NA18951.hp1 NA18962.hp2 NA19000.hp2 NA19060.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0014	a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0163 others(9): Show a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0163 a0001c0001t0002g0062 a0001c0001t0002g0138 a0001c0001t0002g0156 a0001c0001t0003g0047 a0001c0001t0003g0145 a0001c0001t0004g0211 a0001c0001t0006g0105 a0001c0001t0007g0114 a0001c0001t0014g0221	12	226	0.0531	12	c.350 others(29): Show c.350-3169_350-3158dupCCTTCCTTCCTT	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	95127044	C C	CTGTGTGT others(5): Show CTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01346.hp2 others(14): Show HG01069.hp2 HG01071.hp2 HG01346.hp2 HG01496.hp2 HG01934.hp2 HG01981.hp2 HG02040.hp1 HG02056.hp1 HG02080.hp1 HG02559.hp1 HG02698.hp1 HG02738.hp2 HG03579.hp2 HG06807.hp2 NA18522.hp1 NA18992.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0018 others(5): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0018 a0001c0001t0023 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0002t0021	a0001c0001t0002g0117 a0001c0001t0002g0183 a0001c0001t0004g0003 others(14): Show a0001c0001t0002g0117 a0001c0001t0002g0183 a0001c0001t0004g0003 a0001c0001t0004g0054 a0001c0001t0004g0063 a0001c0001t0004g0078 a0001c0001t0004g0091 a0001c0001t0004g0094 a0001c0001t0004g0149 a0001c0001t0004g0150 a0001c0001t0004g0211 a0001c0001t0018g0226 a0001c0001t0023g0216 a0001c0001t0056g0053 a0001c0001t0057g0008 a0001c0001t0058g0184 a0001c0002t0021g0217	17	226	0.0752	12	c.585 others(29): Show c.585+1939_585+1950dupGTGTGTGTGTGT	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMPR1B_chr4_94752955_95163448	95158473	C C	CTTATTTA others(5): Show CTTATTTATTTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02622.hp2 HG02809.hp1 others(2): Show HG02027.hp2 HG02622.hp2 HG02809.hp1 HG03209.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0014 a0001c0001t0019 a0001c0001t0047 others(2): Show a0001c0001t0014 a0001c0001t0019 a0001c0001t0047 a0001c0002t0008 a0001c0002t0021	a0001c0001t0014g0221 a0001c0001t0019g0165 a0001c0001t0047g0001 others(2): Show a0001c0001t0014g0221 a0001c0001t0019g0165 a0001c0001t0047g0001 a0001c0002t0008g0220 a0001c0002t0021g0014	5	226	0.0221	12	c.38 others(23): Show c.3800_*3801insTTATTTATTTAT	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding		26		chr4	TogoVar
BMPR1B_chr4_94752955_95163448	95160537	C C	CCCTCCCT others(5): Show CCCTCCCTCCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0178 a0001c0001t0016g0178	1	226	0.0044	12	c.58 others(23): Show c.5864_*5865insCCTCCCTCCCTT	BMPR1B	ENSG00000138696.11	transcript	ENST00000515059.6	protein_coding		2090		chr4	TogoVar
BMPR2_chr2_202371327_202572749	202373158	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	224	0.0045	12	c.-43 others(23): Show c.-4317_-4316insTTTTTTTTTTTT	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding		3168		chr2	TogoVar
BMPR2_chr2_202371327_202572749	202376511	A A	AGGCGGCG others(5): Show AGGCGGCGGCGGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02273.hp2 HG02896.hp1 HG02897.hp1 others(2): Show HG02273.hp2 HG02896.hp1 HG02897.hp1 HG03831.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0019 a0001c0001t0015 a0001c0001t0019	a0001c0001t0015g0014 a0001c0001t0015g0023 a0001c0001t0015g0028 others(2): Show a0001c0001t0015g0014 a0001c0001t0015g0023 a0001c0001t0015g0028 a0001c0001t0019g0010 a0001c0001t0019g0011	5	224	0.0223	12	c.-93 others(21): Show c.-939_-928dupGGCGGCGGCGGC	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	1/13	927	INFO_REALIGN_3_PRIME	chr2	TogoVar
BMPR2_chr2_202371327_202572749	202379838	T T	TTTTCTTT others(5): Show TTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02055.hp1 HG01358.hp2 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0048 a0001c0001t0003 a0001c0001t0048	a0001c0001t0003g0012 a0001c0001t0048g0013 a0001c0001t0003g0012 a0001c0001t0048g0013	2	224	0.0089	12	c.76+ others(27): Show c.76+2308_76+2319dupCTTTCTTTCTTT	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BMPR2_chr2_202371327_202572749	202393882	C C	CGAGAGAG others(5): Show CGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01169.hp2 HG01192.hp1 others(5): Show HG00738.hp1 HG01169.hp2 HG01192.hp1 HG02132.hp1 HG03704.hp2 HG03710.hp2 HG04228.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0029 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0029 a0001c0001t0035	a0001c0001t0001g0044 a0001c0001t0001g0176 a0001c0001t0001g0181 others(5): Show a0001c0001t0001g0044 a0001c0001t0001g0176 a0001c0001t0001g0181 a0001c0001t0007g0096 a0001c0001t0007g0097 a0001c0001t0007g0121 a0001c0001t0029g0105 a0001c0001t0035g0174	8	224	0.0357	12	c.76+ others(29): Show c.76+16373_76+16384dupGAGAGAGAGAGA	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BMPR2_chr2_202371327_202572749	202435376	C C	CATATATA others(5): Show CATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01070.hp2 HG01106.hp2 others(2): Show HG00735.hp1 HG01070.hp2 HG01106.hp2 HG01433.hp2 HG01517.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0028 a0002c0003t0001 a0001c0001t0001 a0001c0001t0028 a0002c0003t0001	a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0028g0003 others(2): Show a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0028g0003 a0002c0003t0001g0004 a0002c0003t0001g0006	5	224	0.0223	12	c.77- others(29): Show c.77-29412_77-29401dupATATATATATAT	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BMPR2_chr2_202371327_202572749	202485545	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00544.hp1 others(33): Show HG00099.hp1 HG00140.hp2 HG00544.hp1 HG00558.hp1 HG00621.hp1 HG01070.hp1 HG01071.hp2 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01255.hp1 HG01358.hp1 HG01361.hp1 HG02080.hp1 HG02109.hp1 HG02155.hp1 HG02683.hp1 HG02723.hp1 HG02723.hp2 HG02965.hp1 HG03017.hp1 HG03209.hp2 HG03669.hp1 HG03704.hp1 HG03831.hp1 HG03834.hp2 HG04184.hp1 HG04199.hp2 NA18906.hp2 NA18945.hp2 NA18965.hp1 NA18983.hp2 NA18987.hp1 NA19062.hp1 NA19070.hp2 NA20129.hp1	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0001 a0001c0002 a0005c0007 others(1): Show a0001c0001 a0001c0002 a0005c0007 a0007c0004	a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 others(8): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0023 a0001c0002t0002 a0001c0002t0018 a0001c0002t0044 a0001c0002t0046 a0005c0007t0002 a0007c0004t0002	a0001c0001t0005g0141 a0001c0001t0005g0224 a0001c0001t0006g0053 others(33): Show a0001c0001t0005g0141 a0001c0001t0005g0224 a0001c0001t0006g0053 a0001c0001t0006g0063 a0001c0001t0006g0079 a0001c0001t0006g0148 a0001c0001t0008g0202 a0001c0001t0010g0037 a0001c0001t0010g0040 a0001c0001t0010g0041 a0001c0001t0023g0038 a0001c0002t0002g0005 a0001c0002t0002g0035 a0001c0002t0002g0045 a0001c0002t0002g0046 a0001c0002t0002g0048 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0068 a0001c0002t0002g0071 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0134 a0001c0002t0002g0222 a0001c0002t0002g0223 a0001c0002t0018g0069 a0001c0002t0018g0080 a0001c0002t0044g0061 a0001c0002t0046g0074 a0005c0007t0002g0075 a0007c0004t0002g0034	36	224	0.1607	12	c.418 others(31): Show c.418+17864_418+17875dupTTTTTTTTTTTT	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BMS1_chr10_42777795_42839937	42826237	T T	TTGTGTGT others(5): Show TTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0015 a0001c0008t0015	a0001c0008t0015g0166 a0001c0008t0015g0166	1	388	0.0026	12	c.345 others(31): Show c.3456+2485_3456+2496dupGTGTGTGTGTGT	BMS1	ENSG00000165733.8	transcript	ENST00000374518.6	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr10	TogoVar
BMT2_chr7_112814147_112944875	112853224	A A	AGAATTTA others(5): Show AGAATTTACAGCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00438.hp1 others(198): Show HG00099.hp1 HG00099.hp2 HG00438.hp1 HG00438.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18970.hp1 NA18970.hp2 NA19009.hp1 NA19009.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19066.hp1 NA19066.hp2 NA19076.hp1 NA19076.hp2 NA19082.hp1 NA19082.hp2 NA19089.hp1 NA19089.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0002t0003 a0001c0002t0008	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0055 others(191): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0002g0003 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0121 a0001c0001t0002g0188 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0004g0039 a0001c0001t0004g0040 a0001c0001t0004g0041 a0001c0001t0004g0042 a0001c0001t0004g0043 a0001c0001t0004g0044 a0001c0001t0004g0045 a0001c0001t0004g0046 a0001c0001t0004g0047 a0001c0001t0004g0048 a0001c0001t0004g0049 a0001c0001t0004g0050 a0001c0001t0004g0051 a0001c0001t0004g0052 a0001c0001t0004g0053 a0001c0001t0004g0054 a0001c0001t0005g0005 a0001c0001t0005g0006 a0001c0001t0005g0189 a0001c0001t0005g0190 a0001c0001t0005g0191 a0001c0001t0005g0192 a0001c0001t0005g0193 a0001c0001t0005g0194 a0001c0001t0005g0195 a0001c0001t0005g0196 a0001c0001t0005g0197 a0001c0001t0005g0198 a0001c0001t0005g0199 a0001c0001t0006g0059 a0001c0001t0006g0060 a0001c0001t0006g0061 a0001c0001t0006g0062 a0001c0001t0006g0063 a0001c0001t0006g0064 a0001c0001t0006g0085 a0001c0001t0006g0086 a0001c0001t0006g0087 a0001c0001t0007g0007 a0001c0001t0007g0008 a0001c0001t0007g0009 a0001c0001t0007g0010 a0001c0001t0007g0011 a0001c0001t0007g0012 a0001c0001t0009g0088 a0001c0001t0010g0103 a0001c0001t0010g0104 a0001c0001t0010g0105 a0001c0001t0010g0109 a0001c0001t0011g0071 a0001c0001t0011g0072 a0001c0001t0011g0073 a0001c0001t0012g0028 a0001c0001t0013g0038 a0001c0002t0003g0035 a0001c0002t0008g0002 a0001c0002t0008g0034 a0001c0002t0008g0036 a0001c0002t0008g0037	201	206	0.9757	12	c.474 others(31): Show c.474-20550_474-20549insGGCTGTAAATTC	BMT2	ENSG00000164603.12	transcript	ENST00000297145.9	protein_coding	3/4			chr7	TogoVar
BMT2_chr7_112814147_112944875	112892253	G G	GTTCCATT others(5): Show GTTCCATTACTTT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02622.hp1 HG02630.hp1 others(3): Show HG01192.hp2 HG02622.hp1 HG02630.hp1 HG02896.hp2 HG03098.hp2 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0008 a0001c0002t0003 a0001c0002t0008	a0001c0002t0003g0035 a0001c0002t0008g0002 a0001c0002t0008g0034 others(2): Show a0001c0002t0003g0035 a0001c0002t0008g0002 a0001c0002t0008g0034 a0001c0002t0008g0036 a0001c0002t0008g0037	6	206	0.0291	12	c.473 others(29): Show c.473+3315_473+3316insAAAGTAATGGAA	BMT2	ENSG00000164603.12	transcript	ENST00000297145.9	protein_coding	3/4			chr7	TogoVar
BMT2_chr7_112814147_112944875	112899789	G G	GAAAAAAA others(5): Show GAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0035 a0001c0002t0003g0035	1	206	0.0049	12	c.303 others(29): Show c.303-4062_303-4051dupTTTTTTTTTTTT	BMT2	ENSG00000164603.12	transcript	ENST00000297145.9	protein_coding	2/4			chr7	TogoVar
BMT2_chr7_112814147_112944875	112907842	C C	CTTACTTA others(5): Show CTTACTTACTTAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02559.hp1 HG03831.hp1 HG01123.hp1 HG02559.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0093 a0001c0001t0002g0003 a0001c0001t0002g0093	3	206	0.0146	12	c.302 others(29): Show c.302+7463_302+7464insATAAGTAAGTAA	BMT2	ENSG00000164603.12	transcript	ENST00000297145.9	protein_coding	2/4			chr7	TogoVar
BMT2_chr7_112814147_112944875	112907842	C C	CTTACTTA others(5): Show CTTACTTATTTAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01243.hp2 HG02257.hp1 others(1): Show HG00735.hp2 HG01243.hp2 HG02257.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0098 a0001c0001t0002g0117 a0001c0001t0003g0024 others(1): Show a0001c0001t0002g0098 a0001c0001t0002g0117 a0001c0001t0003g0024 a0001c0001t0003g0026	4	206	0.0194	12	c.302 others(29): Show c.302+7463_302+7464insATAAATAAGTAA	BMT2	ENSG00000164603.12	transcript	ENST00000297145.9	protein_coding	2/4			chr7	TogoVar
BMT2_chr7_112814147_112944875	112907842	C C	CTTATTTA others(5): Show CTTATTTATTTAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02723.hp1 HG02809.hp2 others(1): Show HG02109.hp1 HG02723.hp1 HG02809.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0012	a0001c0001t0001g0187 a0001c0001t0002g0069 a0001c0001t0004g0040 others(1): Show a0001c0001t0001g0187 a0001c0001t0002g0069 a0001c0001t0004g0040 a0001c0001t0012g0028	4	206	0.0194	12	c.302 others(29): Show c.302+7452_302+7463dupATAAATAAATAA	BMT2	ENSG00000164603.12	transcript	ENST00000297145.9	protein_coding	2/4			chr7	TogoVar
BMX_chrX_15495807_15561519	15527283	T T	TATATATA others(5): Show TATATATATAGAC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	216	0.0046	12	c.884 others(29): Show c.884+1189_884+1190insTATATATAGACA	BMX	ENSG00000102010.15	transcript	ENST00000348343.11	protein_coding	9/18		INFO_REALIGN_3_PRIME	chrX	TogoVar
BNC1_chr15_83250884_83289664	83285253	G G	GCACACAC others(5): Show GCACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG03453.hp1 HG03471.hp2 others(1): Show HG02622.hp1 HG03453.hp1 HG03471.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0055 a0001c0001t0003g0012 a0001c0001t0003g0044 a0001c0001t0001g0055 a0001c0001t0003g0012 a0001c0001t0003g0044	4	304	0.0132	12	c.-62 others(21): Show c.-626_-625insTGTGTGTGTGTG	BNC1	ENSG00000169594.14	transcript	ENST00000345382.7	protein_coding		590		chr15	TogoVar
BNC2_chr9_16404503_16875670	16412720	G G	GGAGAGAG others(5): Show GGAGAGAGAGAGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01099.hp2 HG01106.hp2 HG01243.hp1 HG01099.hp2 HG01106.hp2 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0048 a0001c0001t0018 a0001c0001t0048	a0001c0001t0018g0095 a0001c0001t0018g0172 a0001c0001t0048g0101 a0001c0001t0018g0095 a0001c0001t0018g0172 a0001c0001t0048g0101	3	176	0.0171	12	c.62 others(23): Show c.6257_*6268dupTCTCTCTCTCTC	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	7/7	6268		chr9	TogoVar
BNC2_chr9_16404503_16875670	16418873	G G	GCACACAC others(5): Show GCACACACACACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00558.hp2 HG01243.hp2 HG01433.hp2 others(11): Show HG00558.hp2 HG01243.hp2 HG01433.hp2 HG02055.hp2 HG02145.hp1 HG02258.hp2 HG02280.hp1 HG02572.hp2 HG02723.hp1 HG03098.hp1 HG03209.hp1 HG03579.hp1 NA19011.hp2 NA21309.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0002 a0003c0008 others(2): Show a0001c0001 a0001c0002 a0003c0008 a0003c0023 a0005c0006	a0001c0001t0028 a0001c0001t0095 a0001c0001t0096 others(8): Show a0001c0001t0028 a0001c0001t0095 a0001c0001t0096 a0001c0001t0097 a0001c0001t0098 a0001c0002t0027 a0001c0002t0029 a0001c0002t0099 a0003c0008t0100 a0003c0023t0027 a0005c0006t0026	a0001c0001t0028g0033 a0001c0001t0028g0114 a0001c0001t0095g0050 others(11): Show a0001c0001t0028g0033 a0001c0001t0028g0114 a0001c0001t0095g0050 a0001c0001t0096g0055 a0001c0001t0097g0080 a0001c0001t0098g0156 a0001c0002t0027g0013 a0001c0002t0029g0057 a0001c0002t0029g0175 a0001c0002t0099g0088 a0003c0008t0100g0072 a0003c0023t0027g0073 a0005c0006t0026g0047 a0005c0006t0026g0049	14	176	0.0796	12	c.10 others(21): Show c.104_*115dupTGTGTGTGTGTG	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	7/7	115		chr9	TogoVar
BNC2_chr9_16404503_16875670	16418873	G G	GCGCACAC others(5): Show GCGCACACACACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0094 a0001c0002t0094	a0001c0002t0094g0168 a0001c0002t0094g0168	1	176	0.0057	12	c.11 others(21): Show c.115_*116insTGTGTGTGTGCG	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	7/7	115		chr9	TogoVar

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